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Everything you need to know about Multiple Hereditary Exostoses…

A resource for MHE patients, their families, and their health care providers

Updated and Revised October 1, 2005

Contributors: Harish Hosalkar, M.D. and John Dormans, M.D., Chief of

Orthopedic Surgery, Children’s Hospital of Philadelphia; Sandra A. Darilek, MS, Department of Molecular and Human Genetics, Baylor College of Medicine and

Jacqueline T. Hecht, PhD, Department of Pediatrics, University of Texas-Houston Medical School; Dror Paley, MD, Director, Rubin Institute for Advanced

Orthopedics, Co-Director, International Center for Limb Lengthening, Sinai Hospital of Baltimore; Wim Wuyts, PhD, Supervisor DNA Diagnostics, Department of Medical Genetics, University and University Hospital of Antwerp, Belgium; Elena

McKeogh Spearing, MA, PT, DPT, PCS, Physical Therapy Manager, Children’s Hospital of Philadelphia; Richard B. Patt, MD, President and Chief Medical Officer of the Patt Center for Cancer Pain & Wellness, Houston, TX; Ronni

Michelson, MSW, LSW; Elizabeth Munroz; Sarah Ziegler, Susan Wynn and Chele Zelina, The MHE Coalition

The MHE Coalition

8838 Holly Lane Olmsted Falls, OH 44138

440-235-6325 www.mhecoalition.com

http://www.mhecoalition.com/

Table of Contents

Chapter One: Orthopedics

Section One

ABC’s of MHE: Diagnostic Tools and How MHE Can Affect Each Part of the Body Contributors: Harish Hosalkar, MD, John Dormans, MD, Children’s Hospital of Philadelphia; Sarah Ziegler, Susan Wynn, Chele Zelina, The MHE Coalition

Section Two

Multiple Exostoses and the Lower Limb Reprinted from The MHE Coalition Newsletter No. 14, June 1, 2003 Contributor: Dror Paley, MD, Director, Rubin Institute for Advanced Orthopedics; Co-Director, International Center for Limb Lengthening; Professor, University of Maryland School of Medicine

Section Three

Multiple Exostoses of the Forearm Contributor: Dror Paley, MD, Director, Rubin Institute for Advanced Orthopedics; Co-Director, International Center for Limb Lengthening; Sinai Hospital of Baltimore

Chapter Two: Genetics

Section One The Genetics of Hereditary Multiple Exostosis (HME) Contributors: Sandra A. Darilek, MS, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jacqueline T. Hecht, PhD, Department of Pediatrics, University of Texas-Houston Medical Center, Houston, TX

Section Two

The Genetics of Multiple Hereditary Exostoses - A Simplified Explanation Contributor: Wim Wuyts, Ph.D., Supervisor, DNA Diagnostics, Department of Medical Genetics, University and University Hospital of Antwerp, Belgium

Section Three

Genetic Testing: Laboratories and Forms

Chapter Three: Living with MHE

Section One The Emotional Implications of Chronic Illness on MHE Patients and Their Families Reprinted from The MHE Coalition Newsletter No. 5, March 1, 2001 Contributors: Ronni Michelson, MSW, LSW; Susan Wynn, The MHE Coalition; Cathy Lloyd

Section Two

Physical Therapy for Patients with Multiple Hereditary Exostoses Contributor: Elena McKeogh Spearing, MA, PT, DPT, PCS, Physical Therapy Manager, Children’s Hospital of Philadelphia

Section Three

Products and ideas to help make living with MHE a little easier… Reprinted from The MHE Coalition Newsletter No. 17, December 2004 Contributor: Susan Wynn

Section Four

Preparing for your Next Medical Appointment Reprinted from The MHE Coalition Newsletter No. 16, June 2004

Section Five

MHE Surgery: Some helpful tips and advice from families who have been through it Reprinted from The MHE Coalition Newsletter No. 10, June 1, 2002

Chapter Four: MHE and Pain

Section One

Hereditary Multiple Exostoses and Pain, Abstract of Study Published in Journal of Pediatric Orthopaedics Contributors: Sandra Darilek, MS, Catherline Wicklund, MS, Diane Novy, PhD, Allison Scott, MD, Michael Gambello, MD, PhD, and Jacqueline Hecht, PhD

Section Two

American Pain Foundation – Pain Action Guide Reprinted with permission of The American Pain Foundation; Appeared in The MHE Coalition Newsletter 7, September 1, 2001

Section Three

Evolving Views on Opioid Therapy for the Management of Chronic Pain. Pain Killers (Analgesics): Panacea, Poison or Somewhere in Between Reprinted from The MHE Coalition Newsletter No. 8, December 1, 2001 Contributor: Richard B. Patt, MD

Section Four

Reflex Sympathetic Dystrophy Syndrome: An Overview Reprinted from The MHE Coalition Newsletter No. 9, March 2002 Contributor: Susan Wynn

Chapter Five: MHE AND CHILDREN

Section One

The Bumpy Bone Survival Guide Reprinted from MHE and Me, www.mheandme.com

Section Two

The MHE and Me Handbook: A Guide for Family Friends, Teachers and Classmates Reprinted from MHE and Me, www.mheandme.com

http://www.mheandme.com/


Section Three

Common School Concerns for Students with MHE School Needs Checklist for Kids with MHE Reprinted from MHE and Me, www.mheandme.com

Chapter Six: Chondrosarcoma

Section One

A Patient’s Guide to Chondrosarcoma Reprinted with permission from www.geocities.com/chondrosarcomaContributor: Elizabeth Munroz, Author and Webmaster of "A Patient's Guide to Chondrosarcoma Website); " (www.geocities.com/chondrosarcoma) Moderator, Yahoo Chondrosarcoma Support Group; Founder and Webmaster of website outlining her personal story of MHE and Chondrosarcoma. Reprinted with permission of the author.


http://www.geocities.com/chondrosarcoma

http://www.geocities.com/chondrosarcoma


Section One

ABC’s of MHE: DiagnosticTools and How MHE Can Affect Each Part of the Body

Contributors: Harish Hosalkar, MD, John Dormans, MD, Children’s

Hospital of Philadelphia; Sarah Ziegler, Susan Wynn, Chele Zelina, The MHE Coalition

Chapter One Section One 1

The ABC’s of MHE Harish Hosalkar, MD., John Dormans, MD.

Diagnostic Tools Important features of orthopedic exam: It is important to follow each step of the exam

during every office assessment of MHE patients.

• Patient should be comfortable with adequate exposure and well-lit surroundings (lest some important

physical finding is missed).

• It is important to assess how the patient moves about in the room before and during the examination

as well as during various maneuvers. Balance, posture and gait pattern should also be checked.

• General exam findings should look for any lumps and bumps that can be felt on any anatomical sites

that can be easily palpated. Chest wall, abdominal and deep pelvic exam should be performed in all

cases. Sessile or pedunculated nature of the bumps should be ascertained if possible.

• General body habitus, including developmental milestones should be noted

• It is important to note any obvious spinal asymmetry, deformities, trunk decompensation, and

evidence of para-spinal muscle spasm or elevation suggestive of spinal lesions.

• The patient’s height should be measured and monitored on subsequent visits. Individuals with MHE

are frequently of short stature, with most having heights 0.5 to 1.0 SD below the mean. (The lesions

tend to enlarge while the physes are open proportionate to the overall growth of the patient, and the

growth of the osteochondromas usually ceases at skeletal maturity).

• It is essential to perform and document a thorough neurologic exam. Asymmetric abdominal reflex is

a subtle sign of spinal pathology and may be associated with spinal cord compression. Motor, sensory

and reflex testing should be performed and recorded.

• Any discrepancies in limb lengths should be noted and evaluated as femoral, tibial or both.

• Arm, forearm, thigh and leg girths should be recorded especially so when an obvious difference is

noted on clinical exam.

• Any deformities should be noted and recorded. The most common deformities seen in MHE include

short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the

pectoral and pelvic girdles, bowing of the radius with ulnar deviation of the wrist, and subluxation of

the radial head.

• The range of motion of all joints, their stability, and any evidence of hyperlaxity, should also be

noted in all cases.

• Distal vascular and neurological status (motor, sensory and reflex) should be evaluated and recorded.

This includes checking of pulse in hands and feet as well as sensations.


Frequency of Follow-up

Children should be followed up at 6-9 month intervals and sooner if there are any

red flags in terms of sudden increase in size of the bump, pain, tingling, numbness, weakness, visible and progressive limp, limb deformities and length discrepancies

It is important to keep a regular follow-up of all cases even after skeletal maturity.

Most patients have increased awareness of all the red flags to be watched for by this time and hence can keep a personal lookout for the same. A thorough exam can be performed by the clinician (including measurements) during the office visit. Radiographs should be repeated only when the bumps are symptomatic or growing.

Note: Your child’s orthopaedist may recommend follow-up at different intervals, sometimes every 3 months, sometimes a year or more, and can explain why that time frame is indicated.

Characterization of Lesions:

Location: Whether the tumor is located in the limb bones, chest wall or ribs, skull, or any

other sites in the body.

1. Pain: Is the lesion associated with pain? If yes: • Intensity: Can be assessed and documented in a lot of ways.

i. On a pain scale of 1 to 10. ii. The MHE and Me Website now features the Bumpy Bone Tracker, Pain Tracker, Pain Tracker for Little Kids, and a Pain Diary, all of which can be used as a tool to discuss pain with a child during an examination

• Quality: i. Do you experience pain on and off (intermittently) throughout the day,

or all the time (constantly)? ii. Does the pain occur at specific times, or with specific activities (ex.

Upon waking in the morning, when walking, etc.) iii. Is pain interfering with your general activities? iv. Do you need to use special accommodations at work or school? v. Is pain affecting your mood? vi. Do you take medications for pain, or use other treatments (i.e. heat,

ice, rest). If so, are these treatments effective? vii. Tumor pain is often unrelenting, progressive, and often present during

the night. viii. Is there any shooting pain? (Suggestive of nerve compression)

• Radiation: Pain radiating to upper or lower extremities or complaints of numbness, tingling or weakness suggest neurologic compression and requires appropriate workup.


2. Onset: • How was the tumor noticed? • Was there any history of trauma? • When did the pain actually start?

3. Duration: • What has been the duration of this new lesion? • How long have the other lesions been around?

5. Progress: Whether the exostosis has remained the same, grown larger, or gotten smaller? 6. Associated symptomatology:

a. Gait and posture disturbances (especially during follow-up of skull or spinal lesions and in cases of limb-length discrepancies and deformities).

b. Any specific history of backpain. If yes, its complete characterization. c. Change in bladder or bowel habits (for evidence of spinal lesions causing

cord compression) d. Gynecologic function alterations in girls with pelvic lesions. e. Scoliosis may be associated with spinal lesions and may need to be

monitored. f. Night pain if present is a worrisome symptom and needs complete

evaluation. Night pain is different than chronic pain in that the pain is not constant and characteristically wakes the patient from sound sleep. Chronic pain on the other hand is persistent and would interfere with the sleep pattern by making the patient restless. Chronic night pain is especially common in MHE cases where the location of the bump may cause pressure on the exostoses when lying down. Soft beds, air cushions, lateral positioning and frequent turning may prove to be helpful in these cases.

g. Neurologic symptoms may be associated spinal or skull lesions. More commonly, local compression of peripheral nerves due to expanding lesions is encountered in arms and legs. In addition, several cases of Reflex Sympathetic Dystrophy (RSD) following MHE surgeries to knees and wrists have been noted. Many patients also experience other nerve-related symptoms following surgery, including long-lasting pain and sensitivity around surgical sites long after incisions have healed.

h. Bursa formation and resulting bursitis may occur as a result of the exostoses and should be recorded. A bursa is a fibrous sac lined with synovial membrane and filled with synovial fluid and is found. The function of a bursa is to decrease friction between two surfaces that move in different directions. Therefore, you tend to find bursae at points where muscles, ligaments, and tendons glide over bones. These bursae can be either anatomical (present normally) or may be developmental (when the situation demands). The bursae can be thought of as a zip lock bag with a small amount of oil and no air inside. In the normal state, this would provide a slippery surface that would have almost no friction. A problem arises when a bursa becomes inflamed. It loses its gliding capabilities, and becomes more and more irritated when it is moved. Bursitis can either result from a repetitive movement or due to prolonged or excessive pressure.


Note from The MHE Coalition: Children who have been experiencing MHE-related pain may be hesitant to share this information with their doctors, fearing that the doctor will recommend surgery. It is not unusual for children to try to minimize their symptoms. We advise families to use the pain tracker tools available to keep an ongoing record between check-ups. It is also important for both parents and physicians to let children know that pain does not necessarily mean surgery, but that it is important to let the doctor know about symptoms they have been experiencing.

Diagnostic work-up

Physical examination.

A thorough physical examination of the patient is extremely important in the assessment of MHE patients. Radiographs

High quality plain radiographs (X-rays) (anteroposterior and lateral views) should be ordered in cases presenting with exostoses. Standing postero-anterior and lateral views of the entire spine on a three-foot cassette should be ordered when spinal lesions are suspected. Special views like tangential views of the scapula may need to be ordered in some cases. Plain films help to localize the lesion and give a fairly good idea about its size and dimensions in 2 planes. Also scanograms help to assess the extent of limb-length discrepancy and its localization. Oblique views of the spine and special skull views may be ordered in suspected cases. Advanced Imaging

Radionucleide bone scan is sensitive to pathologies causing increased bone activities within the skeleton. In combination with SPECT (single photon emission computed tomography), it gives excellent localization of the area of increased uptake. This is extremely useful in MHE to locate multiple lesions, especially those that are situated in deeper areas not amenable to clinical palpation. Further imaging if required, can then be focused. Thallium and PET (positron emission Tomography) scans are also modalities that can help define the tumor metastasis especially in those rare cases of malignant degeneration.

Computed Tomography (CT) CT scans are useful in visualizing the bony architecture particularly as an adjunct to plain radiographs or bone scans. Thin slice CT cuts may be necessary in small lesions. Two and three-dimensional reconstructions are possible and add to the information. Rarely the CT may be combined with the myelogram to effectively delineate the size of the lesion especially for intraspinal lesions.


Magnetic Resonance Imaging (MRI)

This is an excellent modality for defining the spinal cord, nerve roots, soft tissue structures and cartilage. Cortical bone is not seen as well as compared with CT. Cartilage caps of the exostoses and their compression effects on soft-tissues, nerves and adjacent vessels can be very well delineated. It is a study of choice in suspected cases of malignant transformation. MRI studies must be reserved for those cases in which clinical signs and symptoms deem them appropriate. Clinicians must make a point to communicate clinical information and suspected differential diagnosis to the radiologists. Other Diagnostic Tools Ultrasound

May be necessary to diagnose compression of arteries. The principle for ultrasound, or ultrasonography, is the same as for underwater sonar or echo sounding. An apparatus sends an ultrasonic wave through the body at a speed of about 1,500 meters per second. At the interface between two types of tissue, the wave will be refracted or ‘broken up’, and part of the wave will be reflected back and detected by the apparatus. The rest of the ultrasonic wave continues deeper into the body, and is reflected as an echo from the surface of tissues lying further inside the body. How much is reflected depends on the densities of the respective tissues, and thus the speed of the sound wave as it passes through them. The time taken for the reflected wave to return indicates how deep the tissue lies within the body. In this way, one obtains a picture of the relative locations of the tissues in the body, in the same way that one may visualize the contours of a school of fish with sonar. An ultrasound can help ascertain the status of the blood flow through the arteries as well and is therefore important for assessment of suspected compression. EMG (Electromyography, myogram) May be necessary in cases of suspected nerve damage

What is EMG Electromyography is a test that measures muscle response to nervous stimulation (electrical activity within muscle fibers). How the test is performed A needle electrode is inserted through the skin into the muscle. The electrical activity detected by this electrode is displayed on a monitor (and may be heard audibly through a speaker). Several electrodes may need to be placed at various locations to obtain an accurate study.After placement of the electrode(s), you may be asked to contract the muscle (for example, by bending your arm). The presence, size, and shape of the wave form (the action potential) produced on the monitor provide information about the ability of the muscle to respond when the nerves are stimulated. Each muscle fiber that contracts will produce an action potential, and the size of the muscle fiber affects the rate (frequency) and size (amplitude) of the action potentials. A nerve conduction velocity test is often done at the same time as an EMG.


Why the test is performed EMG is most often used when people have symptoms of weakness and examination shows impaired muscle strength. It can help to differentiate primary muscle conditions from muscle weakness caused by neurologic disorders. EMG can be used to differentiate between true weakness and reduced use due to pain or lack of motivation. Histology

Clinical examination and Imaging findings can help establishing the diagnosis in most cases. Biopsy should be performed when a malignant change is suspected. Laboratory evaluation Genetic linkages to MHE have been documented which form the basis of genetic testing. Test methods:

Sequence analysis of the EXT1 and EXT2 genes are offered as separate tests. Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), testing of EXT1 proceeds by bi-directional sequence analysis of all 11 coding exons. The EXT2 gene consists of 15 exons, and all coding exons (2-15) are sequenced in the analysis. Test sensitivity: In patients with MHE, mutations are found in approximately 80% of individuals. Of those in whom mutations are identified, 70% of the mutations are found in the EXT1 gene and the remaining 30% in the EXT2 gene. Thus, the method used to screen the EXT1 is expected to identify approximately 60% of mutations in MHE. In individuals who are found to be negative on analysis of the EXT1 gene, screening of the EXT2 gene will identify the molecular basis of the disease in a further 25% of affected individuals. To date, there are no known distinguishing features within the clinical diagnosis of MHE known to predict which gene is more likely to have a mutation. Multiple exostoses can be associated with contiguous deletion syndromes, which are not detected with these methods.

How MHE Can Affect Each Part of the Body MHE usually manifests during early childhood more commonly with several knobby, hard, subcutaneous protuberances near the joints. The likelihood of involvement of various anatomical sites as observed in a large series is as follows:

Anatomical location Percentage involvement

Distal femur 70 Proximal tibia 70 Proximal fibula 30 Proximal Humerus 50 Scapula 40 Ribs 40 Distal radius and ulna 30 Proximal femur 30 Phalanges 30 Distal fibula 25 Distal tibia 20 Bones of the foot 10-25

The Skull

Lesions in the skull, although reported are extremely rare. Mandibular osteochondromas, typically of the condyle, skull wall lesions and even intracranial lesions have been reported. Affects of MHE on Skull Exostoses can cause problems if they compress or entrap cranial nerves or cause extrinsic compression on the brain. Effects can range from bumpy external lesions that cause cosmetic problems, compression of adjacent structures, cranial nerve involvement and even focal neurological deficits due to compression. Even seizures are likely due to intracranial lesions. Diagnostic Procedures The orthopedist will manually feel for exostoses along the outer table of the skull, check movements of the mandible and also of the upper cervical spine. The orthopedist will also check cranial nerve function and perform a thorough neurological evaluation. X-rays or other imaging tests including CT and MRI may be ordered. Possible Treatment Options

Minor lesions on the outer table of the skull that are flat can sometimes be closely observed.


Bigger lesions on the skull, mandibular lesions causing TM joint instability, and intracranial lesions causing pressure signs may need to be removed by neurosurgical intervention.

Upper cervical spinal tumors, especially of the atlanto-occipital region may be dealt with by orthopedists. Decompression and or stabilization may be performed as required. What Parents Should Watch Out For

Pain. Is your child experiencing pain from exostoses? Visible lumps on the face or skull. Any symptoms of tingling, numbness, weakness in the hands or legs suggestive of

focal deficits. Episodes of seizures or findings of cranial nerve involvement like altered smell,

taste, ringing in ears etc. Problems in chewing, restricted motion of the jawbone or instability of the mandible. Parents can ask dentists and orthodontists to be on the lookout for signs suggestive of

jawbone instability or joint involvement during their office visits especially in symptomatic cases. Spine The spine extends from the base of the skull to the tailbone. Spinal exostoses are rare (Figure 1). Spinal cord impingement is also a rare, but documented, complication of MHE. Cervical, thoracic or lumbar region can be affected. Scoliosis secondary to spinal osteochondromas and instability has been reported.

Affects of MHE on the Spine: This section of the body is not commonly involved with MHE. Involvement of isolated vertebrae has been noted. Affects can range from instability to neural root or cord compression that can manifest as tingling, numbness or weakness in the involved roots or even major neurological deficits like paraparesis or quadriparesis in untreated cases. Rarely compression effects in the form of dysphagia, intestinal obstruction or urinary symptoms may occur. Diagnostic Procedures: With any of the red flags mentioned earlier, the orthopedist will perform a thorough spinal and neurological evaluation. Plain x-rays of the spine and if required, advanced imaging may be performed. The presences and extent of the lesion are best delineated with CT, while MRI of the spinal cord demonstrates the area of spinal cord impingement.



In rare cases of peripheral nerve compression electromyography may be performed to check status of the nerve. Possible Treatment Options:

Minor lesions not causing compressive symptoms or neurologic manifestations may be kept under close observation.

Progressive scoliosis and spinal instability may need to be treated with surgical stabilization involving spinal fusion. What Parents Should Watch Out For:

Any red flags in terms of tingling, numbness, weakness, night pain or bladder and bowel changes and get them evaluated.

Any deformity in the spine or evidence of shoulder or pelvic imbalance. Gait or posture disturbances. Remember that gait and posture disturbances can be

caused by hip or leg exostoses as well (due to either limb-length discrepancy or deformity) and do not necessarily mean tumors in the spine. In any case evaluation by a clinician is important. Ribs and Sternum

Affects of MHE on the ribs and sternum The typically flat bones of the ribs are prone to effects of MHE, with approximately 40% of MHE patients having rib involvement. Prominent chest wall lesions are common although intrathoracic lesions including rare presentations like spontaneous hemothorax (build-up of blood and fluid in the chest cavity) as a result of rib exostoses have been described. Typically, these lesions create issues of cosmesis due to their obvious visibility. Other symptoms may include shortness of breath and other breathing difficulties, pain when taking a deep breath, when walking or exercising, or pain from exostoses “catching”. Diagnostic Procedures The orthopedist will probably manually feel for exostoses along the chest wall and the ribcage. Size and extent of the lesions are noted. A thorough pulmonary evaluation is warranted in all cases when specific symptoms of cough, chest pain or breathing problems are encountered. X-rays or other imaging tests may be ordered. Possible Treatment Options:

Minor bumps can sometimes be kept under observation. Cosmetic problems, rapid increase in size, large size, and signs of compression are

some indications for early removal. Consult may be required with specialists:

Pulmonary: when there are severe breathing difficulties with increasing chest pain. Thoracic surgeons: when intrathoracic (within the chest wall) exostoses may need to be excised. What Parents Should Watch Out For:

Breathing difficulties, shortness of breath Pain when taking deep breath.


Shoulder girdle The scapula is a fairly common site (40%) of involvement in MHE. The lesions may be located on the anterior or posterior aspect of the scapula. Anterior scapular lesions may lead to discomfort during scapulothoracic motion. Winging of the scapula due to exostoses has been described. Clavicle (collar bone) involvement has also been described (5% cases). What is winging? The scapula (also known as shoulder blade) is a triangular flat bone that is located in the upper back and takes part in forming the shoulder joint. The scapula usually lies flat on the chest wall without any prominence. Winging of the scapula is a phenomenon when a part of the scapula including the inferior angle becomes prominent either at rest or during movements. The two most common causes for this are 1. Exostosis on the inner (chest wall) aspect of the scapula. 2. Damage to the nerve (long thoracic) causing weakness or paralysis of muscles (serratus anterior) attached to the scapula. Diagnostic Procedures The orthopedist will probably manually feel for exostoses along the outer aspect of the shoulder blade. Some limited areas of the inner aspect are amenable to clinical examination. Range and feel of the scapulothoracic motion is helpful in clinical assessment. It is important to check individual groups of scapular muscles to rule out nerve compression leading to winging of scapula. X-rays (including special tangential views of the scapula) or other imaging tests may be ordered. Possible Treatment Options

Both outer aspect lesions and inner ones may need excision in symptomatic cases. Smaller lesions on outer aspect amenable to clinical palpation may be observed with regular clinical follow-up. What Parents Should Watch Out For:

Crunching or crackling sound when moving that area Pain Tingling, numbness

Note from The MHE Coalition: Exostoses in the shoulder girdle (collarbone (clavicle) and shoulder blade can impact a child’s ability to raise his/her arm in class, write on a blackboard, participate in certain sports, or wear a backpack. In addition, adolescent girls (and women) may be unable to wear a bra because of pressure not only on shoulder girdle exostoses but also on rib exostoses.

Arms

Upper Arm (Humerus)

Elbow

Forearm (Radius and Ulna)

Wrists

The arm bone is called the humerus while the forearm bones are the radius (curved bone) and the ulna (straighter bone of the two). Osteochondromas of the arm are often readily felt but rarely cause neurologic dysfunction (Figure 2). Osteochondromas of the upper extremities frequently cause forearm deformities. The prevalence of such deformities has been reported to be as high as 40-60%. Disproportionate ulnar shortening with relative radial overgrowth has been frequently described and may result in radial bowing. Subluxation or dislocation of the radial head is well-described sequelae in the context of these deformities. The length of forearm bones inversely correlates with the size of the exostoses. Thus, the larger the exostoses and the greater the number of exostoses, the shorter the involved bone. Moreover, lesions with sessile rather than pedunculated morphology have been associated with more significant shortening and deformity. Thus, the skeletal growth disturbance observed in MHE is a local effect of benign growth. Exostoses in the forearm are known to involve both the radius and the ulna. Since movements of the forearm (pronation and supination) are dependant on the radius moving in an arc of motion around the ulna, mobility may be restricted depending upon the severity of presentation. Also the lower end radius exostoses can lead to compression of the median nerve (in a closed space at the level of the wrist called the carpal tunnel) and present with weakness, tingling and numbness in the hand. Exostoses in the carpal bones can seriously hamper the wrist motion and cause pain. Complete dislocation of the radial head is a serious progression of forearm deformity and can result in pain, instability, and decreased motion at the elbow. Surgical intervention should be considered to prevent this from occurring. When symptomatic, this can be treated in older patients with resection of the radial head. Diagnostic Procedures: The orthopedist will clinically feel for exostoses along the arm, elbow and forearm, and check range of motion (“ROM”) by moving the arm in different directions. The orthopedist will also check measurements on each arm and forearm to see if there is a difference. X-rays or other imaging tests may be ordered. Possible Treatment Options: Indications for surgical treatment include painful lesions, an increasing radial articular angle, progressive ulnar shortening, excessive carpal slip, loss of pronation, and increased radial bowing with subluxation or dislocation of the radial head



Minor lesions can sometimes be observed with careful follow up. Bowing and some length discrepancies and be treated with a surgical procedure

called “stapling,” where surgical staples are inserted into the growth plate of the bone growing faster than the other. This will hopefully give the slower growing bone the chance to “catch up” and the forearm will straighten over time.

Limb Lengthening with a fixator. (See Section on Fixators) Resection of the radial head Excision of exostoses Osteotomy Epiphysiodesis Non-surgical measures for treatment of soft-tissue compression, irritation or

inflammation (anti-inflammatories, heat, rest, etc.) Adaptive devices to aid those with shortened forearms, such as grippers, long-

handled sock aides, etc. What Parents Should Watch Out For:

Any red flags in terms of sudden increase in size of swelling, pain, nerve compression, tingling, numbness, or weakness.

Possibility of exostoses irritating or catching on overlying tissue, such as muscles, tendons, ligaments, or compressing nerves.

Loss of range of motion Pain Difficulty and/or pain when raising arm(s), lifting, carrying

Hands and Fingers Hand involvement in MHE is common. Fogel et al. observed metacarpal involvement and phalangeal involvement in 69% and 68%, respectively, in their series of 51 patients. In their series of 63 patients, Cates and Burgess found that patients with MHE fall into two groups: those with no hand involvement and those with substantial hand involvement averaging 11.6 lesions per hand. They documented involvement of the ulnar metacarpals and proximal phalanges most commonly with the thumb and distal phalanges being affected less frequently. While exostoses of the hand resulted in shortening of the metacarpals and phalanges, brachydactyly was also observed in the absence of exostoses. Diagnostic Procedures: The orthopedist will manually feel for exostoses in the hands and check range of motion (“ROM”) in different directions. X-rays or other imaging tests may be ordered. Possible Treatment Options:

Isolated lesions growing rapidly, or interfering with the smooth motion of tendons or joint motion may need to be excised. Multiple surgeries for small, insignificant lesions is usually not advocated.

Occupational therapy, physical therapy Use of pencil grips, laptop computers, and other adaptive devices

What Parents Should Watch Out For:

Complaints of pain when writing

Some children will not complain of pain, but will have poor penmanship, write slowly, avoid writing, etc. Parents should also observe how the child holds writing and eating utensils.

Difficulty in rotating hand(s), Pelvic Girdle (Hips and Pelvis)

Osteochondromas of the proximal femur (Figure 3) may lead to progressive hip dysplasia. There have been reported cases of acetabular dysplasia with subluxation of the hip in patients with MHE. This results from exostoses located within or about the acetabulum that may interfere with normal articulation.

Pelvic lesions (Figures 4 and 5) may be found on both the inner as well as outer aspect of the pelvic blades. Large lesions may cause signs of compression, both vascular and neurological. There have also been reports of exostoses interfering with normal pregnancy and leading to a higher rate of Cesarean sections. Diagnostic Procedures Manual palpation is sometimes very difficult in these deep lesions. The orthopedist will check range of motion (“ROM”) by manipulating (moving) the leg in different directions. The orthopedist will also check measurements on each leg to see if there is a difference in limb lengths. X-rays or other imaging tests may be ordered. Possible Treatment Options

Minor length discrepancies can sometimes be effectively treated with the use of orthotics (specially made shoes or lifts that will equalize leg length).


Bowing and some limb length discrepancies can be treated with a surgical procedure called “stapling,” where surgical staples are inserted into the growth plate of the leg bone growing faster than the other. This will hopefully give the slower growing bone the chance to “catch up” and the limb will straighten over time.

Limb Lengthening with a Fixator. (See Section on Fixators) Pelvic lesions of concern may need to be surgically excised. Osteotomies. Hip replacement.

What Parents Should Watch Out For

Limping Pain in hips, back, legs Pain, discomfort, difficulty in sitting Inability to sit “tailor” style Stiffness in hips and/or legs after sitting Pain and fatigue from walking

Legs and Knees

Femur

Knees

Lower Leg (Tibia and Fibula)

The likelihood of involvement near the knee (figures 6 & 7) in at least one of the three locations is approximately 94%. A clinically significant inequality of 2cm or greater has been reported with a prevalence ranging from 10-50%. Shortening can occur in the femur and/or the tibia; the femur is affected approximately twice as commonly as the tibia. Surgical treatment with appropriately timed epiphysiodesis has been satisfactorily employed in growing patients. In addition to limb-length discrepancies, a number of lower extremity deformities have been documented. Since the disorder involves the most rapidly growing ends of the long bones, the distal femur is among the most commonly involved sites and 70-98% of patients with MHE have lesions. Coxa valga has been reported in up to 25%; lesions of the proximal femur have been reported in 30-90% of patients with MHE. Femoral anteversion and valgus have been associated with exostoses located in proximity to the lesser trochanter. Genu Valgum or Knock-knee deformities are found in 8-33% of patients with MHE. Genu valgum is defined as a mechanical malalignment of the lower limb when the knees knock


against each other and the legs are pointed away from the body. Although distal femoral involvement is common, the majority of cases of angular limb deformities are due mostly to lesions of the tibia and fibula (Figures 8,9 & 10), which occur in 70-98% and 30-97% of cases, respectively. The fibula has been found by Nawata et al. to be shortened disproportionately as compared to the tibia, and this is likely responsible for the consistent valgus direction of the deformity. Genu varum or Bowlegs may also occur in some cases. This is defined as a mechanical malalignment of the lower limb when the knees drift away from the body and the legs are bowed and close together.

Diagnostic Procedures The orthopedist will probably manually feel for exostoses along the leg, and check range of motion (“ROM”) by manipulating (moving) the leg in different directions. The orthopedist will also check measurements on each leg to see if there is a difference. X-rays or other imaging tests may be ordered. Possible Treatment Options


Bowing and some limb length discrepancies and be treated with a surgical procedure called “stapling,” where surgical staples are inserted into the growth plate of the leg bone growing faster than the other. This will hopefully give the slower growing bone the chance to “catch up” and the limb will straighten over time.

Limb Lengthening with a Fixator. (See Section on Fixators) Excision of exostoses Osteotomy

What Parents Should Watch Out For

Any red flags in terms of sudden increase in size of swelling, pain, nerve compression, tingling, numbness, or weakness.

Possibility of exostoses irritating or catching on overlying tissue, such as muscles, tendons, ligaments, or compressing nerves.

Leg cramps, bluish color, difference in skin temperature may indicate compression of an artery (most often the popliteal artery, located behind the knee).

Compression of the peroneal nerve, which runs along the outside of the leg, can cause a condition known as “drop foot”, in which the foot cannot voluntarily be flexed up. Compression can be caused by exostoses growth, or as a complication of surgery.

Limping, pain when walking Bowing of leg(s) Exostoses on inside of legs bumping into each other Exostoses interfering with normal movements, either by blocking movement or by

causing pain (bending, sitting, walking up or down stairs) Pain and fatigue when walking Gait problems (awkwardness, limping, slow movements, etc.)



Notes from The MHE Coalition: A good way to track possible bowing in your child’s legs is to take a photo of your child dressed in shorts, standing straight with back to wall, legs together. Every few months take another photo of your child in the same position, and date and keep these photos to show your child’s doctor. You can even have your child hold a sign with the date you take the picture (written dark enough to be picked up by the camera!).

Ankles Valgus deformity of the ankle is also common in patients with MHE and is observed in 45-54% of patients in most series. This valgus deformity can be attributed to multiple factors including shortening of the fibula relative to the tibia. A resulting obliquity of the distal tibial epiphysis and medial subluxation of the talus can also be associated with this deformity, while developmental obliquity of the superior talar articular surface may provide partial compensation. Diagnostic Procedures: The orthopaedist will probably manually feel for exostoses along the leg, and check range of motion (“ROM”) by manipulating (moving) the leg in different directions. The orthopaedist will also check measurements on each leg to see if there is a difference. X-rays or other imaging tests may be ordered. Possible Treatment Options:


Bowing and some limb length discrepancies and be treated with a surgical procedure called “stapling,” where surgical staples are inserted into the growth plate of the leg bone growing faster than the other. This will hopefully give the slower growing bone the chance to “catch up” and the limb will straighten over time.

In more advanced cases, excision of exostoses with early medial hemiepiphyseal stapling of the tibia in conjuction with exostosis excision can correct a valgus deformity at the ankle of 15° or greater associated with limited shortening of the fibula.

Fibular lengthening has been used effectively for severe valgus deformity with more significant fibular shortening, (i.e. when the distal fibular physis is located proximal to the distal tibial physis).

Supramalleolar osteotomy of the tibia has also been used effectively to treat severe valgus ankle deformity.

Growth of exostoses can also result in tibiofibular diastasis that can be treated with early excision of the lesions. What Parents Should Watch Out For:

Limping, pain when walking Recurrent falls and instability while walking on uneven surfaces.


Feet and Toes Osteochondromas may occur in the tarsal and carpal bones, however they are often less apparent. Relative shortening of the metatarsals, metacarpals, and phalanges may be noted. Diagnostic Procedures Plain radiographs are probably more useful in defining the extent of involvement of the small bones of the feet in MHE. Other imaging studies may be ordered as and when required. Possible Treatment Options

Large bumps can be surgically excised when symptomatic Deformities of the foot (like hallux valgus) may be corrected by stapling of the

growing epiphysis in younger children or by surgical osteotomy in older patients. What Parents Should Watch Out For

Compression of the peroneal nerve, which runs along the outside of the leg, can cause a condition known as “drop foot”, in which the foot cannot voluntarily be flexed up. Compression can be caused by exostoses growth, or as a complication of surgery.

Note from The MHE Coalition: Parents should know that finding shoes for children affected with ankle and/or foot exostoses can be challenging. Shoes must be found that do not cut into or press on exostoses. In some cases, they must be made specially for the child. In addition, some children will require lifts to help equalize a limb length discrepancy. Children who have exostoses on the bottom of their heel can sometimes benefit from gel cushions that are sold in drug/grocery stores. In addition, many children and teens will have difficulty tying shoes due to affected hands, shortened forearms, etc., and may need shoes with Velcro or shoes that slip on.

In general What Parents Should Watch Out For

If your child is limping, check to see if it is due to an injury, or is something that is occurring and continuing without obvious reason. Limping may signal a limb length discrepancy or other problem.

Bowing of one or both legs Mobility problems. Is your child experiencing pain when walking or running? Pain. Is your child experiencing pain from exostoses that bump each other? Is your

child experiencing pain during certain activities, or pain at night. If so, keep a pain diary. Any red flags in terms of sudden increase in size of swelling, pain, nerve

compression, tingling, numbness, or weakness.


The MHE Coalition and its member organization, MHE and Me, offers the Following Patient Support Information:

“Tips for When Your Child Needs Surgery” The Bumpy Bone Tracker The Bumpy Bone Pain Tracker The Bumpy Bone Pain Tracker for Little Kids The Bumpy Bone Pain Diary The MHE and Me Handbook: A Guide for Families, Friends, Teachers and

Classmates School Needs Checklist for Kids with MHE Common School Concerns for Kids with MHE

What Adults Should Be Aware Of:

Sudden growth in an existing exostosis and pain can be symptomatic of a malignant transformation. It is smart to check out any changes with your orthopaedist. However, it is important to remember that chondrosarcoma is rare.

Years of wear and tear on joints can result in chronic pain. There is also the possibility of exostoses irritating or catching on overlying tissue, such as muscles, tendons, ligaments, or compressing nerves. Possible Treatment Options for these common problems, include pain medications, physical therapy (including stretching, strengthening and modalities), heat, rest, bracing (supportive orthosis acting as load sharing devices) etc.


Glossary of terms and procedures: Synonyms of multiple exostoses: A number of synonyms have been used for this disorder including osteochondromatosis, multiple hereditary osteochondromata, multiple congenital osteochondromata, diaphyseal aclasis, chondral osteogenic dysplasia of direction, chondral osteoma, deforming chondrodysplasia, dyschondroplasia, exostosing disease, exostotic dysplasia, hereditary deforming chondrodysplasia, multiple osteomatoses, and osteogenic disease. Anterior: Situated in the front; forward part of an organ or limb Ball and socket joints: Movable (synovial) joints, such as hips and shoulders, that allow a wide range of movement. Bilateral: having two sides or pertaining to both sides. Biopsy: Take a piece of the lesion to study the histological characteristics. Cartilage: Form of connective tissue, more elastic than bone, which makes up parts of the skeleton and covers joint surfaces of bones. Coxa-valga: When the thighbones are drawn farther apart from the midline due to an increase in the neck-shaft angle of the femur. Coxa-vara: When the thighbones are drawn closer to the midline due to a decrease in the neck-shaft angle of the femur. Dislocation: When the normal articulating joint surfaces have lost total contact. Distal: Away from the midline or the beginning of a body structure (the distal end of the humerus forms part of the elbow). Epiphysiodesis: To surgically stop the growth of the growing end of the bone either temporarily or permanently. Excision: To surgically remove the lesion. Genu-valgum: Knock-knees. Genu-varum: Bowlegs. Hinge joints: movable joints, such as knees and elbows, that allow movement in one direction. Limb-lengthening: Process of increasing the length of bones using one of the various devices.


LLD: Limb-length discrepancy- difference in limb lengths. Medial: Pertaining to the middle or toward the midline. MHE: An autosomal-dominant disorder manifested by multiple osteochondromas and frequently associated with characteristic skeletal deformities. Osteochondromas: Cartilage capped tumors found commonly at rapidly growing ends of bones. Osteotomy: The surgical division or sectioning of a bone. Pedunculated: Lesion with a stalk connecting it to the main bone. Posterior: Situated in the back; back part of an organ or limb Proximal: Near the midline or beginning of a body structure (the proximal end of the humerus forms part of the shoulder). Sessile: Lesion without a stalk connecting it to the main bone. Stapling: Process of insertion of a mechanical device (staple) following surgical intervention. Subluxation: When the joint surfaces are still facing each other but not totally in contact.


Section Two

Multiple Exostoses and the Lower Limb

Contributor: Dror Paley, MD, Director, Rubin Institute for Advanced Orthopedics, Co-Director, International Center for Limb

Lengthening at Sinai Hospital of Baltimore

Chapter One 1 Section Two

Multiple Exostoses and the Lower Limb Dror Paley, MD

Osteochondromas There are a variety of problems related to the exostoses of Hereditary Multiple Osteochondromas. The majority of these problems relate to bothersome bony protrusions with their affect on surrounding joints, muscles, tendons, nerves, blood vessels and skin. Osteochondromas can also affect growth plates and lead to limb deformities and length discrepancies. The focus of this article will be on the limb deformities and discrepancies secondary to the multiple osteochondromas. Lower Limb Osteochondromas are believed to bud off the growth plates. The cartilaginous cap of the osteochondroma has the same structure as the growth plate. It grows in length and width in the same fashion as a growth plate leads to growth in length and width of the end of a bone. For reasons unknown some osteochondromas tether the growth of the growth plate when they bud off. This can lead to asymmetric growth (less growth on the osteochondroma side and more growth on the opposite side of the growth plate) and consequently limb deformity. This tethering effect can also decrease overall limb growth leading to a shorter final limb length than expected. If the opposite lower limb is not as affected then the result is a lower limb length discrepancy (LLD). Although both lower limbs often appear to be equally affected by osteochondromas, LLD is not uncommon indicating that one side is more tethered at the growth plate than the other. The tethering effect of the osteochondroma on growth is directly related to the size of the growth plate it came from. The larger the growth plate the less effect the osteochondroma has on longitudinal growth because the force of growth in the remaining healthy part of the growth plate is so great. The smaller the growth plate the greater is the tethering effect since the percent of the growth plate involved is so great. Good examples of this are the fibula in the lower limb and the ulna in the upper limb. We shall discuss the ulna in a future article. In the lower leg where there are two adjacent bones (tibia and fibula), an osteochondroma tethering the growth of one bone and not the other will lead to a deformity since the two bones are attached together. Therefore if the fibula is growing slower than the tibia the leg will grow towards the fibula. This leads to a valgus deformity (knock-kneed) of the upper tibia and a valgus deformity of the ankle (tilted outward). Osteochondromas between the tibia and fibula can also lead to deformity of the adjacent bone. For example an osteochondroma of the distal tibia can lead to deformity of the adjacent fibula near the ankle. Osteochondromas of the distal femur (lower end of femur near the knee), do not typically lead to any deformity or length discrepancy on their own. They protrude into the surrounding soft tissues and can lead to symptoms related to soft tissue impingement due to their bulk. On occasion they do lead to deformity of the knee which is related to the


tethering of soft tissues and not to bony deformity. For example osteochondromas around the knee can lead to locking and flexion deformity of the knee joint (the knee joint catches in a certain position and will not straighten out). Osteochondromas of the upper femur sprout off the femoral neck. Depending on the direction they come from they lead to different problems. Commonly they lead to asymmetric growth of the neck of the femur resulting in a valgus femoral neck (more vertical than usual). This is usually not a problem. Valgus of the neck of the femur is usually symmetric and therefore does not lead to a leg length discrepancy. When the osteochondroma is too near the hip joint or if it expands the capsule of the hip joint, this can result in a hip joint contracture or subluxation. The typical hip joint contracture is fixed flexion deformity of the hip from an anterior osteochondroma. Patients present walking leaning forward with hyperlordosis of the spine (sway back) as they try and compensate for the leaning forward effect of the hip by arching their back. Subluxation of the hip occurs due to the effect of the osteochondroma pushing the hip out of joint combined with the effect of the valgus of the femoral neck. Treatment of the Lower Limb Deformities. Valgus Knee Deformity (Knock knee deformity) This deformity is usually in the upper tibia. There is usually a large osteochondroma involving the upper end of the fibula. The fibular osteochondroma often tethers or envelops the peroneal nerve. This is a very important nerve that is responsible for controlling the muscles that pull the foot up and out. Injury to this nerve results in a drop foot (inability to pull the foot up). Correction of the valgus deformity of the upper tibia requires an osteotomy (bone cut) of the upper tibia. All osteotomies of the upper tibia to correct valgus stretch the peroneal nerve even in patients without HME. In patients with HME and a fibular exostosis the nerve is very tethered and stretched even before surgery. The nerve can actually be inside the bone if the osteochondroma envelops it. Therefore to correct the deformity safely the nerve must first be found above the fibula and decompressed around the neck of the fibula. The osteochondroma of the fibula should be resected. If the upper fibular growth plate is considered to be damaged beyond recovery then a segment of the fibula should be removed so that the two ends of the fibula do not join together again to prevent re-tethering of the tibia. Only after all of this is performed can an osteotomy of the tibia be carried out safely to correct the valgus deformity. The valgus deformity can either be corrected all at once or gradually. Correcting it all at once is usually performed by taking out a wedge shaped piece of bone and then closing the wedge to straighten the tibia. This can be fixed in place with a metal plate or with an external fixator. Gradual correction is carried out by minimal incision technique to cut the bone. The correction is achieved by use of an external fixator. This is a device that fixes to the bone by means of screws or wires that attach to an external bar or set of rings. Adjustment of the external fixator slowly corrects the deformity. This opens a wedge instead of closes a wedge of bone. This has the advantage of adding length to the leg which if the leg is short already is advantageous. This type of external fixator is also used for limb lengthening. Therefore if there is a LLD the angular correction can be performed simultaneous with lengthening. Gradual correction is safer than acute (all at once) correction for correction of the valgus deformity.


Another way to address the valgus knee deformity without addressing limb length discrepancy is hemi-epiphyseal stapling of the growth plate. This is perhaps the most minor procedure possible and involves insertion of one or two metal staples on the medial side (inside) of the growth plate of the upper tibia. The metal staple straddles the growth zone on the medial side preventing growth of the medial growth plate while permitting growth on the lateral side. This allows the tibia to slowly autocorrect its alignment. It is a very slow process and may require several years. Once the tibia is aligned the staple can be removed permitting resumption of growth from the medial side. There is a small risk of damaging the medial growth plate which could lead to a varus bowing deformity of the tibia. Stapling can also be used in the distal tibia to correct the ankle deformity. Valgus deformity of the ankle Patients complain of walking on the outer border of the foot. Viewed from behind this posture of the foot is very apparent. This deformity is often well tolerated. The lower end of the tibia tilts outwards towards the fibula. The lower end of the fibula is the lateral malleolus. It is important for stability of the ankle. Since the fibula grows less than the tibia the lateral malleolus is often underdeveloped leading to lateral shift of the talus (ankle bone). This can eventually lead to arthritis of the ankle. Lateral tilt of the ankle joint is compensated by the subtalar joint (joint under the ankle) by inversion of the foot (turning of the foot in). Since this is a longstanding process the subtalar joint becomes fixed in this position of compensation for the ankle joint. Therefore if one tries to fix the ankle joint tilt completely the foot will end up tilted inwards and the patient will be standing on the outer border of the foot. Therefore one either has to accept the valgus ankle or correct it together with the subtalar joint fixed deformity. This is best done with a circular external fixator (Ilizarov device). This correction involves gradual correction of a minimally invasive osteotomy of the lower tibia and fibula together with distraction (pulling apart) of the subtalar joint contracture. Flexion deformity of the knee This deformity is usually related to tethering or locking of the soft tissues around the knee by distal femoral or proximal tibial osteochondromas. The treatment involves resection of the offending exostosis and lengthening of the hamstring tendons if needed. Flexion deformity of the hip/subluxation of the hip/valgus upper femur This is treated by resecting the offending osteochondroma of the femoral neck. This hip capsule has to be opened to access these. At the same time to reduce the hip subluxation (hip coming out of joint) a varus osteotomy of the upper femur should be done (bending the femur inwards towards the joint). The bone can be fixed either by an internal metal plate or an external fixator. Limb Length Discrepancy Limb length discrepancy under 2cm is usually not noticeable and does not require treatment. LLD over 2cm is usually noticed by the individual affected leading to self compensation by walking on the ball of the foot (toe down) or by tilting the pelvis and curving the spine (scoliosis). Untreated LLD can lead to lower back pain, and long leg arthritis of the hip. These take many years to develop. Individuals who compensate for


LLD by walking on the ball of the foot often develop a tight Achilles tendon. The easiest way to treat LLD is by using a shoe lift. I generally prescribe a shoe lift one cm less than the LLD. Shoe lifts of up to 1cm can be easily accommodated inside a shoe. Greater than 1cm should be added to the outside of the shoe. Wearing a shoe lift prevents problems of the back, hip and ankle from developing. LLD can also be equalized surgically. This can be done by either shortening the long leg or lengthening the short leg. In children shortening the long limb is achieved by surgically closing the growth plate of the lower femur or the upper tibia prematurely (epiphysiodesis). This is a small minimally invasive procedure with few complications. The accuracy of this method depends on the ability of the surgeon to predict the LLD at maturity and the rate of growth of the long limb. The accuracy of LLD equalization with this method is ± 1cm. After growth of the skeleton has ceased (skeletal maturity) epiphysiodesis is no longer an option. Shortening in adults is carried out by removing a segment of the bone and fixing the bone in place with a metal rod that is inserted into the marrow cavity (locked intramedullary nail). In the femur this procedure can be done through very small incisions, and shortening up to 5cm (2 inches) can be safely achieved. In the tibia this procedure requires bigger incisions and has greater risk and is usually limited to 3cm (1.25 inches). Lower limb lengthening is the other way to correct LLD and can be carried out in both children and adults and at almost any age. To lengthen a limb the bone is cut through a very small incision (1cm) and then the two ends of the bone are pulled apart at a gradual rate of 1mm/day (1/25 inch/day). Since bone is a living substance it grows new bone to repair the break. By pulling the bone apart at a gradual rate, we prevent the bone ends from joining together. Instead new bone if formed in the growing gap between the bone ends. Once the desired lengthening is achieved the bone is held in place until it joins together. The new bone that was formed in the gap becomes stronger as calcium accumulates in it. Eventually this new bone achieves the strength of normal bone. There are various devices that are used for limb lengthening. The majority of these are external fixators. An external fixator is an external frame or brace that attaches directly to the bone by means of thin (1.8mm- 1/16”) tensioned wires or thicker (6mm- ¼”) screws (half-pins). The frame of the fixator is either shaped like a bar (monolateral fixator: e.g Orthofix, EBI, Wagner, monotube) or has rings and arches (circular fixator: Ilizarov, Taylor Spatial Frame, Sheffield). More recently these systems have become hybridized and have elements of both monolateral and circular fixators. The circular fixators can be attached to the bone by means of wires that go from one side of the limb to the other passing through the skin on one side, then through the bone and then exiting the skin on the other side. Wires have much smaller diameters than half-pins and achieve their strength by being tensioned across the ring, like tensioning a guitar string. Half pins are of much larger diameter and only pass through the skin on one side. They fix to the bone by means of a screw-like thread. To lengthen the limb the fixator has a screw mechanism which allows for small adjustments that pull the bone apart. The bone is pulled apart because the fixator which is attached to the bone above and below the break in the bone, lengthens as the screw mechanism is turned. The typical lengthening rate is 1/4mm, 4


times a day, for a total of 1mm/day. There is even a motorized attachment which can be used for lengthening (Autogenesis). This lengthens at the same rate of 1mm/day divided into hundreds of small lengthenings. This may reduce the pain of lengthening. It is also more gentle on the soft tissues (nerves, muscles) that must stretch and grow as the bone is pulled apart. The most common complication with external fixator lengthening is superficial pin infection. This minor complication is to be expected. It is also easily treated by taking oral antibiotics at the first sign of infection (redness, tenderness, and drainage around a pin site). Deeper infection of the soft tissues and bone is quite rare, but if it occurs usually requires removal and possible replacement of the problem pin, IV antibiotics and sometimes surgery to debride (remove dead tissue) the soft tissue and bone. Other complications include tightness of muscles which can limit the range of motion of the adjacent joints or even pull the adjacent joints into a fixed position that interferes with function (e.g. equinus contracture of the ankle (fixed toe down position) is due to tightness of the Achilles tendon that develops during lengthening). To prevent problems with joints and muscles it is essential to do daily range of motion and stretching exercises with physical therapy, and to maintain that stretch by using foot or knee splints. Sometimes it is necessary to either immobilize a joint by extending the external fixation across the joint to hold the joint in a functionally good position (e.g. foot fixation at 90° with tibial lengthening to prevent equinus). In some cases it may be necessary to surgically lengthen some of the tendons or fascia to prevent or treat contractures (e.g. Achilles tendon lengthening). Bone complications can also occur. These include too rapid or too slow bone formation. Too rapid formation (premature consolidation) can prevent further lengthening and requires rebreaking the bone to continue lengthening. To prevent this the lengthening rate may have to be increased. Poor bone formation can also occur (delayed consolidation). This requires more time in the external fixator until the bone is fully healed. Complete or partial failure of bone formation leads to a bone defect and may require a bone graft to get the bone to heal. There are two phases to the lengthening process. The first is the distraction phase when the bone is being pulled apart at one mm per day. The second is the consolidation phase when the bone is hardening while it is being held in place by the external fixator. The fixator cannot be removed until the bone is completely healed. If the fixator is removed before that time the bone will bend, shorten and/or break. The best way to tell if the bone is fully healed is by x-ray. Even with x-rays it is not uncommon to misjudge the strength of the bone and remove the fixator prematurely. In many cases we apply a cast for an additional month of protection to minimize the risk of refracture. It is better to leave the fixator on an extra month than to take it off a day too early. Patients are often impatient at this stage and push their doctors to take the frame off. An experienced limb lengthening surgeon turns a deaf ear to these frustrations and refuses to remove the frame until the x-rays suggest that the bone is strong enough that it will not break or bend upon removal. Most of the complications of lengthening occur during the distraction phase or after removal. Few complications other than pin infection arise during the consolidation phase.


External fixator lengthening has been the standard for the past one hundred years of the history of limb lengthening. In the past decade internal lengthening devices have emerged. These permit gradual lengthening by means of a fully implantable telescopic intramedullary rod (a metal rod that fits inside the marrow cavity of the bone). While there are several of these devices in use worldwide, there is only one at present FDA approved in the USA. This is called the Intramedullary Skeletal Kinetic Distractor (ISKD). It is manufactured by Orthofix, Inc. At present it is on a limited release with only a small number of surgeons trained to use it and of those only two centers with a large experience with its use (Baltimore and Orlando). This device can only be used in patients who are skeletally mature and therefore is not applicable in growing children. It is also limited in its ability to correct deformities. Nevertheless it eliminates all of the problems related to the pins of the external fixator, especially pin site infections, scars and pin site pain. It also reduces the muscle tethering from the pins and makes the physical therapy easier. The ISKD does present some new problems not experienced with external fixator lengthening. There is less control of the lengthening rate and rhythm which can lead to contractures, nerve problems and bone healing problems. In the femur there is a higher rate of premature consolidation while in tibia there is a higher rate of delayed consolidation. Some patients experience severe pain at the onset of lengthening and require an epidural for several days until this pain goes away. All in all however we consider this a major advance. We have performed over 50 such surgeries with good success. None have been for MHE. Deciding between lengthening and shortening is based on a few factors. Shortening is only applicable for discrepancies less than 5cm. Shortening is a much smaller procedure while lengthening is a bigger procedure and longer treatment. Lengthening has a higher complication rate. Shortening cannot correct deformity on the short leg. Lengthening can simultaneously correct deformity and length discrepancy. Shortening will decrease the patients height by the amount of shortening (max 5cm : 2 inches). Lengthening does not decrease height. Therefore in someone with less than 5cm of LLD and no deformity who is not short or concerned about the height loss, epiphysiodesis or shortening are good alternatives for equalization or LLD. Most cases do have associated deformities and therefore our preference is to perform one operation to simultaneously correct the LLD and the deformity at the same time.


Section Three

Multiple Exostoses of the Forearm

Contributor: Dror Paley, MD, Director, Rubin Institute for Advanced Orthopedics, Co-Director, International Center for Limb

Lengthening at Sinai Hospital of Baltimore

Chapter One Section Three 1

Multiple Exostoses of the Forearm Dror Paley, MD

Introduction The forearm consists of two bones (radius and ulna) and six joints (elbow: radio-capitalar and ulno-humeral; wrist: radio-carpal and ulno-triquetral; radio-ulnar: proximal and distal). Unlike the relationship between the tibia and fibula in the lower extremity the radius and ulna move functionally relative to each other to produce the movement of supination and pronation . Relative to the elbow they move together (flexion and extension). Although most wrist motion and stability comes from the articulation between the radius and the carpus, the ulna provides support for the ulnar side and prevents excessive ulnar deviation of the hand. The relationship between the radius and the ulna is therefore one of the most functional relationships between any two bones. Exostosis formation of either bone can easily interfere in the function of the elbow, wrist or forearm rotation. Since osteochondromas form from the growth plates they are usually found at the ends of the bones but migrate towards the shaft of the bone with growth. Ulnar Osteochondromas: osteochondromas most commonly form from the distal growth plate. Unlike those of the radius the ulnar exostoses are typically sessile (no stalk) while those of the radius are often pedunculated (on a stalk). The osteochondromas of the ulna often lead to delayed growth of the ulna relative to the radius. The radius gradually gets longer than the ulna. The slower growing ulna tethers the growing radius leading to increased tilt of the radius towards the ulna with increasing ulnar deviation of the wrist. Over time, the discrepant rate of growth leads to subluxation and then dislocation of the proximal end of the radius (radial head) from the elbow (radio-capitellar joint). Dislocation of the radial head from the joint causes the upper end of the radius to deform into valgus (bent position). Occasionally an osteochondroma can develop from the ulna side of the proximal radio-ulnar joint. This can also contribute to dislocation of the radial head by pushing the radial head laterally. Radial Osteochondromas: osteochondromas from the radius can be divided into those that protrude towards the ulna and those that don’t. The latter don’t impede supination-pronation motion, while the former do. The radius and ulna may develop ‘kissing exostoses’ that meet in the interosseous space. Distal radius deformity: the distal radius has a normal inclination towards the ulna of 23º. In MHE the slower growing ulna may tether the distal radius on the ulnar side leading to increased distal radial tilt. This increased tilt appears as ulnar deviation of the hand. With time the carpus will subluxe ulnarly and proximally. Proximal radius deformity: the ulnar tether also exerts a dislocating force on the radio-capitellar joint. As the radial head subluxes it comes to rest against the lateral condyle of the humerus. To adapt to this chronic position the radial neck may grow into valgus. With time, the radial head may completely dislocate and protrude posteriorly. Length discrepancy: The entire forearm is shorter than the other side. The shortening is predominantly in the ulna. Some shortening is also present in the radius.

Chapter One Section Three 2

Clinical signs and symptoms: Patients are limited in their forearm rotation range of motion. The wrist is usually ulnarly deviated. There may be a prominence or bump if the radial head is subluxed or dislocated. This may be tender to being bumped. Elbow flexion and extension is usually not affeceted. A flexion deformity of the elbow may be present. Treatment considerations Exostoses that are obviously impeding forearm rotation (e.g. kissing exostoses, are usually resected. It is important to do this via two separate incisions to avoid a cross union between the radius and ulna. Lengthening and deformity correction can be performed as the first stage in the absence of exostoses that limit motion, or as the second stage if exostoses are resected first. Lengthening Reconstruction Surgery (LRS): LRS refers to distraction surgery using external fixation to lengthen and correct deformities of the forearm. The problem in MHE ranges from simple to complex. Simple cases: In simple cases, the primary deformity is relative shortening of the ulna. The radial tilt is minimal and does not need to be addressed. There is no subluxation/dislocation of the radial head. The problem is therefore just shortening of the ulna. If this is left untreated the secondary deformities of the radius will develop. The treatment is to perform an isolated lengthening of the ulna. I prefer to do this with a circular external fixator even though the lengthening is linear. A circular fixator allows simultaneous fixation of the radius to the ulna. Without fixation of the radius, lengthening of the ulna will transport the radial head distally. This occurs because of the tough interosseous membrane between the radius and the ulna. The osteotomy of the ulna is usually at its proximal end. This allows correction of any flexion deformity of the ulna (elbow) and leads to faster healing than if the osteotomy is made through the mid-diaphyseal (middle) section of the ulna. Complex cases: In more complex cases the surgical plan includes correction of the distal radial deformity and or radial head dislocation. A circular external fixator is used. Proximally both the radius and ulna are fixed. The ulnar osteotomy is made proximally and the radial osteotomy is made distally. This type of frame simultaneously corrects shortening of the ulna and tilt of the distal radius. If the radial head is dislocated then the treatment is staged. The first step is to lengthen the ulna with a pin connecting the radius and ulna distally. This transports the radius distally and reduces the radial head. If the radial head does not reduce spontaneously then at a second stage surgery the radio-capitellar joint is opened and the radial head reduced at surgery and is held with an olive wire. If there is both distal radial tilt and dislocation of the radial head then the radial head is reduced first and then at a second stage the wire pulling the radius and ulna distally is removed and the distal radius osteotomized for deformity correction and lengthening. With staged surgeries many of the deformities of MHE of the forearm can be corrected. Combined with removal of the obstructing exostoses improved range of motion of forearm rotation is obtained. Does hemiepiphysiodesis stapling have a role in MHE? I have no experience with this in the upper extremity. Theoretically, it should work for the distal radius. We are considering correction of the distal radial tilt by stapling in combination with overlengthening of the ulna. Overlengthening of the ulna can help delay recurrence. Overlengthening of up to 2 cm is practical. Fixation of the hand is not required if the lengthening of the radius is less than 3 cm.


Section One

The Genetics of Hereditary Multiple Exostosis (HME)

Contributors: Sandra A. Darilek, MS, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jacqueline T. Hecht,

Ph.D., Department of Pediatrics, University of Texas-Houston Medical Center, Houston, TX

Chapter Two 1 Section One

The Genetics of Hereditary Multiple Exostosis (HME) Sandra A. Darilek, MS and Jacqueline T. Hecht, PhD

Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrowths (osteochondromas or exostoses) that develop next to the growth plates of all the long bones (Solomon 1963). The most striking clinical feature of HME is the numerous cartilage-capped exostoses, which are associated with the entire skeleton. Skeletal surveys suggest that a solitary exostosis can be found in 1-2% of the general population (Mirra 1989). A diagnosis of HME is made in individuals where the presence of multiple exostoses has been noted on clinical and/or radiologic examination. The average age at identification of a first exostosis is three to four years with 96% of individuals with HME developing exostoses by the age of 12 (Schmale et al. 1994; Wicklund et al. 1995). In addition to having exostoses, individuals with HME can have other skeletal and non-skeletal complications. Skeletal complications include limb discrepancy and bony deformities such as bowed radius, conical ulna, and valgus deformity of the hip and ankle (Solomon 1963; Karasick et al. 1997; Vanhoenacker et al. 2001). Mild short stature is also a characteristic feature of the condition with the mean height being 170 ± 7.9 cm for males and 155 ± 6.9 cm for females (Wicklund et al. 1995). The presence of exostoses can lead to a number of non-skeletal complications such as compression of tendons, muscles, ligaments, blood vessels, and nerves, all of which can cause pain. Blood vessel involvement has been found in 11.3% of individuals with HME, while peripheral nerve compression and spinal cord compression have been found in 22.6% and 0.6% of individuals with HME, respectively (Wicklund et al. 1995). A recent study focusing on pain in HME found that 84% of individuals report having pain as a result of having HME (Darilek et al. 2004). By far the most severe complication of HME is the malignant transformation of an exostosis into a chondrosarcoma. Recent studies estimate the lifetime risk of malignant degeneration to be about 2-4% for individuals with HME (Schmale et al. 1994; Wicklund et al. 1995; Darilek et al. 2004). Many individuals with HME undergo surgery as a result of having HME-related complications. Studies have shown the 66-74% of individuals with HME undergo at least one operation for their exostoses, with the average number of surgeries being two to three (Schmale et al. 1994; Wicklund et al. 1995).

Inheritance HME is an autosomal dominant condition with a penetrance ranging from 96 to 100% (Schmale et al. 1994; Wicklund et al. 1995). Estimates of the prevalence of HME have ranged from 0.9 in 100,000 in a European population to 100 in 100,000 in a small, closed population of the Chamorros of Guam (Voutsinas and Wynne-Davies 1983; Krooth and Cunningham 1986; Hennekam 1991). A more recent study in the state of Washington found the prevalence to be at least one in 50,000, however, this is thought to be an underestimate as more mildly affected individuals do not come to medical attention (Schmale et al. 1994). Most people with HME have a family history of the condition. Solomon (1963) reported that 66% of individuals with HME have a family history while more recent studies have increased this estimate to 70-90% (Schmale et al. 1994; Wicklund et al. 1995).


Gene Linkage Linkage studies were conducted to locate the gene or genes leading to HME. It was long suspected that a gene for HME would map to the Langer-Giedion region on chromosome 8. Langer-Giedion syndrome is a rare, autosomal dominant disorder in which individuals have multiple exostoses, characteristic facial features, and cone-shaped epiphyses and are frequently mentally retarded (OMIM #150230). The exostoses found in HME and Langer-Giedion syndrome are indistinguishable. In addition, a patient with HME and a balanced chromosomal translocation involving chromosomes 8 and 11 had been described, adding to the evidence for the presence of an HME gene on chromosome 8 (Ogle et al. 1991). In order to determine if a gene for HME was indeed located on chromosome 8, Cook et al. in 1993 conducted linkage analysis on eleven multigenerational families with HME. They found significant evidence for linkage of a disease locus to the Langer-Giedion region on chromosome 8 for 70% of the families studied. This finding also indicated that HME is a genetically heterogeneous disorder, having at least one other locus somewhere else in the genome. In 1994, Wu et al. studied two large, multigenerational families with HME, for which linkage to chromosome 8 was excluded, in order to try to localize other genetic loci for HME. They performed a genome-wide search and found evidence for a second locus for HME on chromosome 11. Linkage to a third locus on chromosome 19 was also reported by Le Merrer et al. in 1994. In 1996, the linkage to chromosomes 8 and 11 was confirmed by Blanton et al. and in 2001 linkage analysis conducted by Francannet et al. confirmed that there are at least three EXT loci, with 69% of their families showing linkage to EXT1 on chromosome 8, 21% to EXT2 on chromosome 11, and 3% to EXT3 on chromosome 19 (Blanton et al. 1996; Francannet et al. 2001). These findings suggested that these three loci account for over 90% of cases of HME, but that at least one additional HME locus might exist. However, neither the EXT3 gene nor any additional EXT genes have been cloned and these finding have not been confirmed in other studies. Genes Of the three genes linked to HME, two have been cloned: EXT1 on chromosome 8q23-q24 and EXT2 on chromosome 11p11-p12. Homologous genes have been found in mice, Caenorhabditis elegans, Drosophila, and Xenopus (Lin and Wells 1997), Stickens et al. 1997, (Bellaiche et al. 1998; Katada et al. 2002)]. EXT1 and EXT2 are large genes. EXT1 is made up of eleven exons spanning over 250 kilobases while EXT2 contains fourteen exons and is spread over a region of more than 100 kilobases (Ludecke et al. 1997). The genes code for ubiquitously expressed proteins of 746 (EXT1) and 718 (EXT2) amino acids and share approximately 70% similarity at the amino acid level (Ahn et al. 1995; Wuyts et al. 1996). Both the EXT1 and EXT2 proteins have been found to localize predominately to the endoplasmic reticulum but function in the Golgi apparatus as hetero-oligomers to synthesize heparan sulfate chains (Lin and Wells 1997; McCormick et al. 1998; McCormick et al. 2000). Normally functioning EXT1 and EXT2 proteins are required for proper bone growth. Since both proteins play a role in the development of benign bone tumors and there is an increased risk for individuals with HME to develop chondrosarcoma, it is thought that the EXT genes function as tumor suppressors. This role has been supported by loss of heterozygosity (LOH) studies that have revealed that both the EXT1 region on chromosome 8 and the EXT2 region on chromosome 11 show LOH in HME-related and isolated chondrosarcomas (Hecht et al. 1995; Raskind et al. 1995; Hecht et al. 1997).


Mutations Research has shown that approximately 64-76% of families with HME have a mutation in the EXT1 gene and approximately 21-30% have a mutation in the EXT2 gene (Dobson-Stone et al. 2000; Wuyts and Van Hul 2000; Francannet et al. 2001). Currently, 66 different mutations have been found in the EXT1 gene and 31 different mutations have been found in the EXT2 gene. The EXT1 mutations include thirteen nonsense mutations, twelve missense mutations, and four splice sites mutations as well as 37 mutations that consist of small insertions or deletions. The majority of the EXT1 mutations have been found to cause premature termination of the EXT1 protein. While most of the mutations reported are private mutations, two mutations, 1469delT and C1018T, have been reported in nine and ten unrelated patients, respectively (Wuyts and Van Hul 2000; Francannet et al. 2001). The distribution of the mutations over the EXT1 gene has been analyzed and reveals that while mutations occur throughout the entire length of the gene, most of the mutations are distributed over the first six exons of the gene with the last five exons, which contain a conserved carboxyterminal region, having significantly fewer mutations (Wuyts and Van Hul 2000). The EXT2 gene has been shown to have a comparable spectrum of mutations. Eleven of the 31 reported mutations are nonsense mutations while four are missense mutations, three are splice site mutations, and thirteen are frameshift mutations (Wuyts and Van Hul 2000; Francannet et al. 2001). As in EXT1, most of the mutations are private mutations that are distributed over the first eight exons of the gene, again leaving the carboxyterminal region with fewer mutations than one would expect with a random distribution (Wuyts and Van Hul 2000). The majority of the EXT mutations are expected to cause premature termination of the EXT proteins leading to loss of function of the proteins (Francannet et al. 2001). A multi-step model was proposed to describe the development of an exostosis but there is little experimental data to support this model. Only heterozygous mutations have been identified in the vast majority of exostosis samples with only a few exostosis samples demonstrating multiple mutations or LOH (Hall et al. 2002). Genotype-Phenotype Correlations In 2001, Francannet et al. conducted a clinical survey and mutation analysis for 42 families with HME, consisting of 217 affected individuals, in order to determine whether there is any correlation between HME phenotype and genotype. They divided the families into two groups based on the phenotypic expression of the disease. The first group, referred to as group S, included families with severely affected members while the second group (group M) included families whose members had a moderate HME phenotype. They also further divided group S into four subgroups labeling them as type IS to IVS, with IVS being the most severely affected group overall. Of the 42 families studied, seven belonged to group M and 35 to group S. Of the group S families, 10 were labeled type IS, five type IIS, eight type IIIS, and two type IVS. Most of the families with a moderate phenotype (group M) were found to have EXT2 mutations, while all of the type IIS, IIIS, and IVS families except one were found to have EXT1 mutations. The more severe HME phenotype (type S) was significantly associated with EXT1 mutations while a more moderate phenotype was associated with EXT2 mutations. Of note, chondrosarcomas were only found in patients with EXT1 mutations. The only correlation found between phenotype and location of mutation in the EXT genes was found in the IVS group (most severe phenotype). Mutations associated with this group of patients were consistently located in the first exon of EXT1. Phenotypic variability has also been noted in HME. In this study, 2/3 of families with an EXT1 mutation were noted to


exhibit phenotypic variability, while in all but two families with EXT2 mutations members showed a homogeneous phenotype (Francannet et al. 2001). This genotype-phenotype analysis suggests that more severe HME phenotypes presenting with large number of exostoses, short stature, and/or vertebral exostoses are more commonly found in individuals with an EXT1 mutation. One concern about the study is the criteria used for categorizing phenotype severity. The researchers used five factors to judge severity: age at onset (severe if less than or equal to 3 years), number of exostoses at time of evaluation (severe if greater than or equal to 10), location of exostoses (severe if vertebral exostoses noted), stature (severe if less than or equal to the tenth percentile), and functional rating (severe if the rating was “fair”). For an individual’s phenotype to be labeled severe, three or more of these factors had to be rated severe. The authors do not explain why these specific cutoffs are determined. There currently is no consensus as to what constitutes a severe versus a moderate HME phenotype and thus severity ratings can be extremely subjective. Of note, the genotype-phenotype correlations were based on family phenotype, not on individual phenotype, and a family’s phenotype was based solely on the degree of severity of the most affected members. As a result, a family with a number of mildly or moderately affected members could have been labeled as severe if a few of the members are found to have severe phenotypes. This can lead to a bias, as only those most severely affected family members are considered when making genotype-phenotype correlations. In addition, it is not clear whether the study population is made up of individuals ascertained from a clinic population or from the general population of individuals with HME. If the study population is a clinic population, it is possible that only more severely affected individuals and families were studied, again biasing the study toward a more severe phenotype by not including those individuals and families who never come to medical attention due to being mildly affected by HME. In order to determine whether genotype-phenotype correlations can be made in HME, additional studies should be carefully undertaken and consider disease severity by individual. Genetic Counseling and Genetic Testing Most individuals with HME have a parent who also has the condition, however, approximately 10% of individuals with HME have the condition as a result of a de novo mutation and are thus the first person in their family to be affected (Schmale et al. 1994). Individuals with HME have a 50% chance of having an affected child. Genetic testing for HME is available on a clinical basis. Testing consists of sequence analysis of the entire coding regions of both the EXT1 and EXT2 genes. The mutation detection rate has been found to be approximately 70%, as sequencing of the coding regions of the genes may not identify all mutations (Philippe et al. 1997; Raskind et al. 1998). If a mutation is not detected by sequence analysis, fluorescent in situ hybridization (FISH) analysis can be used to detect deletions in the EXT1 and EXT2 genes. Prenatal diagnosis through chorionic villus sampling (CVS) at 10-12 weeks gestation or amniocentesis at 16-18 weeks gestation as well as preimplantation genetic diagnosis (PGD) is available for individuals for whom genetic testing has identified a disease-causing mutation. Though genetic testing is available for HME, the severity of the condition cannot be predicted based on mutation type. In fact, the severity of the condition varies even within members of the same family. Genetic counseling is indicated for individuals and families with HME to aid them in understanding information about HME and making decisions based on this information.


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Section Two

The Genetics of Multiple Hereditary Exostoses –

A Simplified Explanation

Contributor: Wim Wuyts, Ph.D., Supervisor, DNA Diagnostics, Department of Medical Genetics, University and University Hospital of

Antwerp, Belgium

Chapter Two Section Two 1

The Genetics of Multiple Hereditary Exostoses – A Simplified Explanation

Wim Wuyts, Ph.D.

Multiple Hereditary Exostoses - General aspects

Introduction

Hereditary Exostoses (MHE), also often referred to as Hereditary Multiple Exostoses (HME), is a bone disorder that affects mainly the long bones. Recently the term Multiple Osteochondroma (MO) was suggested by the World Health Organization (WHO) as the preferred term to refer to this disorder and throughout this article both abbreviations MO/MHE will be used. MO/MHE is characterized by the presence of bony protuberances, which are described as osteochondromas or exostoses. They are located mainly near the joints and are often accompanied by skeletal deformities. MO/MHE was first described in the year 1786, while the name multiple exostoses was first proposed in 1876. In the literature one can find many other names describing this disorder; such as diaphyseal aclasis, chondral osteoma, osteochondromata, multiple cartilaginous exostoses, (multiple) exostosis, deforming chondreodysplasia, osteogenic disease, etc. Single osteochondromas or exostoses are very common in the general human population (1 to 2%) but the incidence of multiple osteochondroma is estimated to be 1 in 50,000. However, isolated communities have been described where a much larger fraction of the population is affected. MO/MHE is not a unique human disease, as osteochondromas have been found in many species including cats, dogs, sheep, horses, lizards, lions, etc. A large osteochondroma was even found on the bones of a dinosaur. Clinical aspects

MO/MHE is a condition a person is born with and osteochondromas can be present at birth but in most patients they are noticed within the first six years of life. By the age of 12, almost all patients have been diagnosed. Most affected bones are the femur, tibia and fibula, but this is very variable from patient to patient. In theory every bone which is formed by endochondral bone formation (a process of bone formation in which cartilage is formed first, which then is replaced by bone) can be affected. Facial bones remain normally unaffected. MO/MHE is characterized by great variation in number, size, location and shape of the osteochondromas, even within a family. The osteochondromas continue to grow until closure of the growth plates at the end of puberty. Development of new osteochondromas or further growth at later age is not common but has been described. In addition to the presence of the bony outgrowths, skeletal deformities such as bowing and shortening of the forearm, knee, hip and ankle deformities can be present. Mild short stature is also observed in many patients.


Many complications have been observed in MO/MHE patients, including compression of tendons, nerves, muscles, ligaments and spinal cord. The pressure of the osteochondromas on neighboring tissues and organs causes often almost permanent pain. The most serious complication is the development of a malignant tumor (a chondrosarcoma) out of an osteochondroma, mostly occurring at adult age. This event is observed in 1 to 5% of the cases and is often preceded by abnormal growth of the osteochondroma or changes in the cartilage cap which covers the osteochondroma. The only known treatments for MO/MHE are surgical removal of the osteochondromas, (which often grow back at the original site) and surgical procedures to correct bone deformities and limb length discrepancies. Surgery, physical therapy and pain management are currently the only options available to MO/MHE patients, and their success varies from patient to patient and many struggle with pain, fatigue and mobility problems throughout their lives. At present there is no definite cure for MO/MHE. In addition to MO/MHE, two syndromes have been described where multiple exostoses are one of the symptoms: the Langer-Giedion syndrome (LGS) and the Proximal 11p deletion syndrome (P11pDS). Patients suffering from LGS have multiple osteochondromas, but also show typical characteristic features such as a bulbous nose, protruding ears, sparse hair, cone-shaped epiphyses and often mental retardation. Patients with P11pDS syndrome (also called Potocki-Shaffer syndrome) have multiple osteochondromas, skull defects and often mental retardation. Genetic aspects

MO/MHE is an autosomal dominant hereditary disorder. This means that a patient with MO/MHE has a 50% chance of transmitting the disorder to his/her children, so he/she has a 50% chance that his/her child will also have MO/MHE and 50% that this is not the case. This is equal for both male and female patients. Normally the disorder does not skip a generation. So if one of the parents does have MO/MHE and the child does not, this child will normally only have unaffected children. However, some patients have very mild symptoms so it may only look like they are unaffected. In this case, their children are still at 50% risk of developing MO/ MHE. This may create a situation where it seems that the disorder skips a generation. In such cases, genetic analysis may reveal the true status. In a large number of patients there is no previous family history of MO/MHE and both parents are unaffected. In these patients a new mutation has occurred. These patients have then again a 50% risk of transmitting the disorder to their children. To understand why MO/MHE is an autosomal dominant disorder one has to understand the basic principles of heredity. All our genetic information, which determines a great deal of the development of our body, lies within our DNA. This DNA is organized in chromosomes, which are numbered from 1 to 22 while the sex determining chromosomes are named X and Y. At the moment of conception, the egg cell which comes from the mother fuses with the sperm cell, which is provided by the father. The egg cell contains 23 chromosomes (chromosome 1 to 22 and an X chromosome) and the sperm cell contains 23 chromosomes (1 to 22 and an X or Y chromosome). After fertilization, a fertilized egg with 46 chromosomes is formed from which an embryo and eventually a human being will develop. During this process the cells will divide with duplication of


the DNA. Therefore, in the human body (almost) every cell (with the exception of the egg and sperm cells) contains the 46 chromosomes containing the entire DNA content. Males have one X and one Y chromosome, females have two X chromosomes. Certain parts of our DNA, the so-called genes, contain all the information necessary to make proteins. Every gene is located on a certain chromosome. If such gene contains an error, which is called a mutation, this can affect the formation and/ or function of this gene and thus the function of the corresponding protein. Loss of altered function of this protein can then result in a visible defect or disorder. At present we know that there are two such genes, the EXT1 gene on chromosome 8 and the EXT2 gene located on chromosome 11, which are important with respect to MO/MHE. If a mutation in one of these two genes occurs, this inactivates this gene and/or the corresponding EXT1 or EXT2 protein. Therefore, MO/MHE patients have only one functional EXT1 or EXT2 gene, so have only half of the functional EXT1 or EXT2 proteins compared to people without a mutation in EXT1 or EXT2. Both EXT1 and EXT2 have a function in cartilage and bone development and it appears that the remaining EXT proteins are not enough for normal bone development. The fact that MO/MHE patients still have one functional EXT gene (and EXT protein) is not enough and therefore the effect of the mutation is dominant. This is in contrast with the so-called recessive diseases, such as, for example, cystic fibrosis (CF) where you only develop the disease if you have a mutation in both genes. People with a mutation in only one of their CF genes do not get CF but are only carriers of the disease. The chance for two parents who are both carriers of having an affected child is in this case 25%. Approximately 60 to 70 % of MO/MHE patients have a mutation in the EXT1 gene and 20 to 30% have an EXT2 mutation. In 10 to 20% of the patients, no mutation is found. This can be explained by the presence of a yet unknown, additional EXT-causing gene or by the fact that not all mutations can be detected by the techniques commonly used in DNA diagnostics for MO/MHE. The fact that most of the families have a different mutation makes genetic analysis for MO/MHE very laborious and expensive, and it is therefore only performed in a few laboratories worldwide. At present, the outcome of genetic testing has no effect on determining orthopeadic care but genetic testing may give more options in making choices in reproduction. Once the mutation is identified in one patient, testing of family members is relatively easy and it can confirm their affected/non-affected status. Moreover, presymptomatic and prenatal diagnostics through chorionic villus sampling (CVS) at 10-12 weeks gestation or amniocentesis at 16-18 weeks gestation is available and also preimplantation diagnostics (PGD) can be offered to those families for whom the disease-causing mutation has been identified. At present, it is still not very clear whether the differences in severity of the disease are related to whether the patient has an EXT1 or EXT2 mutation. There seems to be a tendency that EXT1 mutations cause a more severe type of MO/MHE, but this needs to be confirmed in larger studies. In addition, there is no explanation for the variation in severity that is observed between patients within one family, thus with the same mutation. It is therefore at present impossible to make predictions with regard to severity of the condition based upon mutation type.


Concluding remarks

Although still many questions remain unanswered, many aspects of MO/MHE have been elucidated in the past years. The increasing understanding of the genetic and biological aspects of this disorder will increase the quality of the (genetic) counseling of MO/MHE patients, which should always be offered when a diagnosis of MO/MHE is made.

Selected literature

1. Ahn J, Lüdecke H, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet. 1995, 11:137-143

2. Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet 1996, 58:734-742

3. Francannet C, Cohen-Tanugi A, Le MM, Munnich A, Bonaventure J, Legeai-Mallet L: Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet 2001, 38:430-434

4. Hennekam RCM: Hereditary multiple exostoses. J Med Genet 1991, 28:262-266 5. Hunter J. The works of John Hunter, F.R.S. London: Longman, 1835. 6. Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K: The putative tumor

suppressors EXT1 and EXT2 are glycosyltranserases required for the biosynthesis of heparan sulfate. J Biol Chem. 1998, 273:26265-26268

7. Luckert Wicklund C, Pauli RM, Johnston D, Hecht JT: Natural history study of hereditary multiple exostoses. Am J Med Genet 1995, 55:43-46

8. Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJH, Wells DE, Horsthemke B: Molecular dissection of a ontiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 1995, 4:31-36

9. McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F: The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nature Genet. 1998, 19:158-161

10. McCormick C, Duncan G, Goutsos KT, Tufaro F: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the golgi apparatus and catalyzes the synthesis of heparan sulfate. PNAS 2000, 97:668-673

11. Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH: Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 2004, 86:1041-6

12. Potocki L, Shaffer LG: Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 1996, 62:319-325

13. Schmale GA, Conrad EU, Raskind WH: The natural history of hereditary multiple exostoses. 1994, 76:986-992

14. Solomon L: Hereditary multiple exostosis. J Bone Joint Surg (Br) 1963, 45:292-304


15. Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genet 1996, 14:25-32

16. Vanhoenacker FM, Van HW, Wuyts W, Willems PJ, De SA: Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol 2001, 40:208-217

17. Virchow R: Ueber the Entstehung des Enchondroms und seine Beziehungen zur Enchondrosis und Exostosis cartilaginea. Monatsberichte der Koniglichen Preussischen Akademie der Wissenschaften 1876, 760

18. Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul E, De Boulle K, de Vries BBA, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AMW, McGaughran J, Halley DJJ, Willems PJ: Positional cloning of a gene involved in hereditary multiple exostoses. Human Molecular Genetics 1996, 5:1547-1557

19. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mut 2000, 15:220-227

20. Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O: Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. Eur J Hum Genet 2004, 12:400-6

21. Zak B, Crawford BE, Esko JD: Hereditary multiple exostoses and heparan sulfate polymerization. Biochimica et Biophysica Acta 2002, 1573:346-355



Section Three

Genetic Testing: Laboratories and Forms

Universitair Ziekenhuis Antwerpen

UniversiteitAntwerpen

CENTRUM MEDISCHE GENETICA

EXT1 and EXT2 Gene testing at the Department of Medical Genetics, University of Antwerp (Belgium)

Mutation analysis of the EXT1 and EXT2 genes will be performed by direct sequencing of all coding exons of both genes, including intron/exon boundaries. This results in the identification of a mutation in approximately 80% - 90% of the patients. Additional analysis to detect possible deletions involving the EXT1 or EXT2 gene will be performed by PCR analysis of intragenic EXT1 and EXT2 markers or FISH analysis (optional). Reporting of the results is expected within 2-4 months. Costs: Initial screening: 600 euro/sample for each gene analyzed. Normally both genes will be

analyzed simultaneously. However, at request the analysis of only one gene or both genes stepwise is possible. If blood (heparin) is sent, FISH analysis is also performed.

Confirmation: 300 euro/sample for screening for a known mutation. Detailed

information of the exact position of the mutation should be provided. Inclusion of a control sample is preferred.

Prenatal diagnosis: 600 euro/diagnosis. Prenatal diagnosis on chorion villi (CVS) must be

announced in advance and can only be performed if adequate information is available. The lab should always be contacted before sending a CV sample. Maternal material (DNA or blood) is also required to test for possible maternal contamination (no additional cost).

FISH: 300 euro/ sample Linkage analysis: If multiple members of a family are available linkage analysis can be

performed to exclude/link one of the EXT genes. If this analysis is performed coupled with full mutation screening no additional cost will be charged and costs will thus be limited to 600 euro (index patient) and 300 euro for each additional family member that must be genotyped. It is possible to include individuals in the linkage analysis without genotyping them once the mutation has been identified. This should clearly be indicated at the request form. These individuals will not receive a result or invoice.

An institutional invoice address for each sample should be provided or otherwise a check in euro made payable to Department of Medical Genetics University Hospital of Antwerp should be included when sending the sample. We do not send invoices directly to the patient.

Universiteitsplein 1 2610 Antwerpen (BELGIE) Tel:+32(0)3 820 25 70 Fax:+32(0)3 820 25 66 http://www.uia.ac.be/dnalab

Diensthoofd Consultatie Cytogenetica DNA-onderzoek

: Prof. Markus NÖTHEN, MD : Jenneke VAN DEN ENDE, MD, Marie-Noëlle VAN THIENEN, MD, Yolande VAN BEVER, MD, Bettina BLAUMEISER, MD, Martine BIERVLIET, MD, Winnie Courtens, MD : Bernadette VAN ROY, MSc, Jan WAUTERS, PhD : Katrien STORM, MSc, Wim WUYTS, PhD, Guy VAN CAMP, PhD, Wim VAN HUL, PhD, Frank KOOY, PhD, Sven CICHON, PhD

Sample: DNA analysis requires blood (20 ml – EDTA or heparin, but please include at least one tube heparin) or DNA (50 µg). For FISH analysis we need 10 ml (HEPARIN). All samples should be sent to Wim Wuyts, PhD Dept. Medical Genetics University of Antwerp Building T (6th floor) Universiteitsplein 1 2610 Wilrijk Belgium Samples should be shipped at room temperature and should arrive in our lab preferable within 48 hours. It is advised to contact the lab before sending any samples. Requests/Reports All requests for EXT mutation analysis should be sent by a genetic counselor or clinician with appropriate genetic knowledge with respect to multiple exostoses in order to ensure proper correspondence of the results to the patient. Reports will only be sent to the referring clinician or genetic counselor. No results will be mailed to the patient. Clinical information Clinical information is required. Please fill in attached clinical sheet for each patient For additional questions, please contact Wim Wuyts. Wim Wuyts, PhD Supervisor DNA diagnostics Dept. Medical Genetics University of Antwerp Building T (6th floor) Universiteitsplein 1 2610 Wilrijk Belgium Tel: 32-3-820.26.77 Fax: 32-3-820.25.66 Email: [email protected]

MULTIPLE OSTEOCHONDROMAS (MO)

CLINICAL INFORMATION • Name patient: • Date of birth: • sex: • • Height : at age: • Age of onset of MO: • Number of osteochondromas at .......... (age) years (please circle) : 1) 1 2) 2 to 5 3) 5 to 10 4) 10 to 20 5) >20 • Site of osteochondroma (please tick): Site Site Site distal femur distal tibia foot proximal femur proximal tibia knee distal humerus distal fibula scapula proximal humerus proximal fibula clavicle pelvis spine other:............ • Did the patient develop a chondrosarcoma? no

yes at age: ......... location: .................................

• Family history: 1) no family history

2) family history: please include pedigree

MULTIPLE OSTEOCHONDROMAS (MO)

CLINICAL INFORMATION (2) • Name patient: • skeletal deformities: 1) no 2) yes: please specify:

Deformity Functional impairment forearm decreased range of forearm rotation forearm with radial head dislocation decreased range of elbow flexion shortening of forearm decreased range of knee flexion genu vaga other: ................................................. other:................................ • complications (vessel entrapment, tendon entrapment......): 1) no 2) yes: please specify: ........................................................................................................

.......................................................................................................... • additional comments/observations

GeneDx, Inc. 207 Perry Parkway

Gaithersburg, MD 20877 Phone (301) 519-2100 Fax (301) 519-2892

E-mail: [email protected] www.genedx.com

EXT1 and EXT2 Gene Testing in Hereditary Multiple Exostoses

Also known as: multiple osteochondromatosis; hereditary multiple osteochondromata; multiple cartilaginous exostoses; diaphyseal aclasis; HME Mendelian Inheritance in Man Number: 133700 Clinical features: Individuals with HME often develop benign cartilage-capped tumors (exostoses) at the ends of the long bones or the surface of flat bones. Exostoses develop prior to skeletal maturity only. Bony deformity, bowing of the long bones, limited range of motion, and premature osteoarthrosis may be associated with hereditary multiple exostoses (HME). Exostoses also may cause complications by putting pressure on nearby tissues, nerves or blood vessels. A rare but severe risk in patients with multiple exostoses is the development of malignant chondrosarcoma, which occurs in 1-2% of patients Inheritance pattern: There is genetic heterogeneity in HME, and at least two loci are known to be associated with this condition. GeneDx offers sequence analysis for both the EXT1 and EXT2 genes. A possible third gene thought to account for a small number of cases has not yet been identified. HME is an autosomal dominant trait, regardless of the gene involved. The risk to offspring of an affected individual is 50%. About 10% of individuals with HME have a negative family history, which may be due to a de novo mutation or reduced penetrance of an EXT mutation in a parent. The literature suggests that disease penetrance is high [95%] and that most non-expressing carriers are female. According to a recent review (Chansky and Raskind, 2000), 60-70% of identified mutations in HME are found in the EXT1 gene, whereas 30-40% are in the EXT2 gene. Reasons for referral:

1. Confirmation of a clinical diagnosis 2. Genetic counseling 3. Prenatal diagnosis in at-risk pregnancies

Test methods: Sequence analysis of the EXT1 and EXT2 genes are offered as separate tests. Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), testing of EXT1 proceeds by bi-directional sequence analysis of all 11 coding exons. The EXT2 gene consists of 15 exons, and all coding exons (2-15) are sequenced in our analysis. Test sensitivity: In patients with HME, mutations are found in approximately 80% of individuals. Of those in whom mutations are identified, 70% of the mutations are found in the EXT1 gene and the remaining 30% in the EXT2 gene. Thus, the method used by GeneDx, Inc. to screen the EXT1 is expected to identify approximately 60% of mutations in HME. In individuals who are found to be negative on analysis of the EXT1 gene, screening of the EXT2 gene will identify the molecular basis of the disease in a further 25% of affected individuals. To date, there are no known distinguishing features within the clinical diagnosis of HME known to predict which gene is more likely to have a mutation. Multiple exostoses can be associated with contiguous deletion syndromes, which are not detected with our methods. Mutational spectrum: Most mutations in EXT and EXT2 cause premature truncation of the corresponding exostosen protein and are comprised of frameshift, splice site, and nonsense mutations. Missense mutations have also been seen. Costs and turn-around time:

Mutation detection for EXT1 or EXT2 requires an affected individual and costs $1400 for each gene. We can test both genes concurrently if requested, however it is more cost-efficient to test them sequentially. DNA testing of relatives for a known mutation is $350. Pre-natal diagnosis using two samples (CVS, fresh amniocytes and/or cultured amniocytes) is $700. There may be additional cost for ruling out maternal contamination of the fetal sample, in some cases. For testing a new patient, turn-around time is approximately 6-8 weeks. For pre-natal diagnoses, where the mutation in the family is known, turn-around time is approximately 2 weeks. Fees are subject to change without notice.

CPT codes for testing in either EXT1 or EXT 2 in

Hereditary Multiple Exostoses 83891 x 15 units = $ 160 83898 x 15 units = $ 460 83894 x 15 units = $ 160 83904 x 15 units = $ 460 83892 x 4 units = $ 80 83912 x 4 units = $ 80 TOTAL = $ 1400 ICD9 Code for exostosis, unspecified site 726.91 Chansky HA and Raskind WH (Updated [Aug 3, 2000]). Hereditary Multiple Exostoses. In: GeneReviews at GeneTests·GeneClinics: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2002. Available at http://www.geneclinics.org or http://www.genetests.org.




COLLECTION AND SHIPMENT OF BLOOD FOR GENETIC TESTING

1. Draw 5cc whole blood into a lavender top tube (containing EDTA). Label the tube with the patient’s name and your institutional identification number.

2. Wrap the tube in bubble wrap or other protective material and place inside a sealed plastic bag.

3. Place bag containing blood sample in a Styrofoam shipping box with a cool pack. DO NOT FREEZE THE BLOOD SAMPLE

4. Place the completed sample submission form, signed consent document, and payment option form, as well as any other paperwork in another sealed plastic bag or envelope.

5. Ship the sample by an overnight or second-day carrier, to arrive at GeneDx on a weekday (Mon through Friday).

Ship to the following address: GeneDx, Inc. Accessions 207 Perry Parkway Gaithersburg, MD 20877 If you have any questions, please call GeneDx, Inc. at 301-519-2100, or e-mail [email protected] NOTE: DNA can also be shipped to GeneDx for use in our genetic tests, and this is often the best choice for international samples. DNA can be shipped frozen, refrigerated, or at room temperature. Ship to the same address as above. If available, please provide information about the concentration of DNA in the sample.


Gaithersburg, MD 20877 Phone 301-519-2100 Fax 301-519-2892

E-mail: [email protected] Web site: www.genedx.com

HOW TO COLLECT BUCCAL CELLS DNA can be prepared using cells obtained by swabbing the buccal mucosa (inside of the cheek). It is a simple non-invasive procedure and requires no exposure to blood or blood products. We have enclosed most of what you will need to obtain buccal cells. The only other thing you will need is a strong pair of scissors. PROCEDURE: 1. Remove a Cytobrush Plus Cell Collector from the envelope touching only the “stick” end. 2. Don’t rinse mouth before starting! Have the individual open his/her mouth. Twirl the brush on the inner cheek for 30 seconds. Be gentle but strong. DON’T SCRAPE SO HARD THAT THE CHEEK BLEEDS! 3. Place the brush end of the Cytobrush Plus Cell Collector in the tube. Cut the “stick” with a pair of scissors (it takes a little effort!) at the level of the top of the tube. Replace the cap on the tube and close completely.

3a. Tubes are either (1) pre-labeled or (2) unlabeled. If labeled, be sure to place the correct brush in the correct tube. If unlabeled, you will have been sent small white labels on which to write the individual’s name and your institutional ID. Apply one label to each tube. You will need to prepare two labels for each individual.

4. Repeat the process with another brush, this time brushing the inside of the other cheek. 5. Mail the tubes with the brushes inside back to us in the enclosed envelope that is addressed to GeneDx, Inc. They can be sent by regular mail. If you have any questions, please call GeneDx, Inc. at 301-519-2100, or e-mail [email protected]




Sample Submission Form and Test List Page 1 of 2 © GeneDx 07/04

Date Sample Obtained _____/_____/_____ mm/dd/yy Sample Type [ ] buccal brushes (must be GeneDx kits)

[ ] blood in EDTA (lavender to – 5 mL for adults, 3 mL for children) [ ] skin punch biopsy, size ________mm

[ ] DNA [concentration: __________µg/mL] [ ] fetal tissue: Specify type ___________________________________ Patient Name ______________________________, _________________________, __________ Last name First name MI Your Patient Identifiers ___________________________________________________________ Date of Birth _____/_____/____ mm/dd/yy Gender [ ]Male [ ]Female [ ]Unknown Patient Address _______________________________ _______

History: Please provide any applicable information• Clinical diagnosis or family history, including any

reason to be considered for preferential priority (scheduled surgery, pregnancy management, etc.).

• Explain relationship to any other relatives submitted. • Gestational age if pregnancy: • ICD9 codes, if insurance submission is requested:

Number and Street Apt ________________________ _____ _______________ City ST Zipcode Patient Phone Home ( ) ______ - _________

Work ( ) ______ - _________ ext______

TESTS REQUESTED: Mark on PAGE 2 of this form REPORTING ADDRESS ADDRESS FOR DUPLICATE REPORT Physician/CGC_____________________________________ ________________________________________ Address ____________________________________ ________________________________________ ____________________________________ ________________________________________ ____________________________________ ________________________________________ Phone ( ) ________-_________________ ( ) _________-_________________ Fax *Important ( ) ________-_________________ ( ) _________-_________________ Beeper ( ) ________-_________________ ( ) _________-_________________ Email _________________@ ________________ __________________@ ________________ PAYMENT: Submit the PAYMENT OPTIONS form

Periodic Fever Syndromes ____ Familial Mediterranean Fever (MEFV) ____ Familial Hibernian Fever / TRAPS (TNFRSF1A) ____ Hyper- IgD Syndrome (MVK) ____ Muckle-Wells /Familial Cold Urticaria/ NOMID (CIAS1) Ectodermal Dysplasia syndromes ____ X-linked hypohidrotic ED (EDA1 aka ED1, EDA) ____ Autosomal rec/dom hypohidrotic ED (EDAR) ____ Clouston syndrome (GJB6, connexin30) ____ Ectrodactyly-ED-Clefting (TP63, p63) ____ Hay-Wells (TP63, p63) Congenital Ichthyoses ____ Lamellar ichthyosis (TGM1) ____ Sjögren-Larsson syndrome (FALDH) ____ Epidermolytic hyperkeratosis (KRT1, KRT10) ____ Ichthyosis bullosa of Siemens (KRT2e) ____ Vohwinkel syndrome (GJB2; connexin26) ____ Erythrokeratoderma variabilis (GJB3, connexin31; GJB4, connexin30.3) Other Keratin Disorders

Sample Submission Form and Test List Page 2 of 2 © GeneDx 07/04

Pachyonychia congenita ____ KRT16, KRT6a (PC1) ____ KRT17, KRT6b (PC2)

____ Epidermolytic PPK of Vörner (KRT9) ____ Unna-Thost disease (KRT1, KRT16) ____ White sponge nevus (KRT4, KRT13) ____ Steatocystoma multiplex (KRT17) ____ Epidermolysis Bullosa Simplex (KRT5, KRT14) Immune Deficiency Disorders Chronic Granulomatous Disease

____ X-linked (CYBB) and common recessive (NCF1) ____ Other autosomal recessive (NCF2, CYBA)

Severe Combined Immunodeficiency (autosomal recessive) ____incl. Omenn Syndrome (RAG1 and RAG2) ____Jak3 Deficiency (JAK3)

____ X-linked agammaglobulinemia (BTK) ____ Leukocyte Adhesion Deficiency (ITGB2) Bone Marrow Failure Syndromes ____ Fanconi Anemia (FANCA) cDNA sequence analysis ____ Congenital amegakaryocytic thrombocytopenia (MPL) ____ Shwachman-Diamond Syndrome (SBDS) ____ Congenital and cyclic neutropenia (ELA2) ____ Dyskeratosis Congenita, X-linked (DKC1) ____ Dyskeratosis Congenita, Autosomal (hTR) ____ Diamond-Blackfan anemia (RPS19) Cancer-Associated Syndromes ____ Gorlin syndrome (PTCH) ____ Cowden syndrome (PTEN) ____ Bannayan-Riley-Ruvalcaba syndrome (PTEN) ____ Multiple endocrine neoplasia type 1 (MEN1,Menin) ____ Multiple endocrine nepoplasia type 2A/ Familial Medullary Thyroid Carcinoma (RET) ____ Multiple endocrine neoplasia 2B (RET)

Hyperparathyroidism-Jaw Tumor Syndrome/ Parathyroid carcinoma/Familial Isolated Hyperparathyroidism (HRPT2)

____ Tier 1 ___ Tier 2 ____Entire gene Familial Cutaneous Malignant Melanoma

____CDKN2A/ p16 ____ CDK4 ____ Both ____ Peutz-Jeghers syndrome (STK11) ____ Carney Complex (PRKAR1A) Developmental Eye Disease _____ Aniridia, other diagnoses (PAX6) _____ Anophthalmia, microphthalmia (SOX2) _____ Anophthalmia, microphthalmia (SIX6)

Hereditary Rickets ____ X-linked dominant hypophosphataemia (PHEX) ____ Autosomal dom. hypophosphataemia (FGF23) ____ Autosomal rec. Vit. D dependent rickets (CYP27B1) Alagille Syndrome (JAG1) ____ Tier 1 ____ Tier 2 if Tier 1 is negative Coffin-Lowry syndrome (RSK2) _____Tier 1 ____Tier 2 if Tier 1 is negative Hermansky-Pudlak Syndrome (HPS1 and/or HPS3) ____ HPS1 and HPS3 Puerto Rican mutations ____ HPS3 Ashkenazi splice mutation Hereditary multiple exostoses (EXT1 and EXT2) _____ EXT1 only _____ EXT2 if EXT1 is negative _____ Both EXT1 and EXT2 Noonan Syndrome (PTPN11) _____ Exons 3 and 8 only _____ Remainder of gene (if 3 and 8 negative) _____ Entire PTPN11 gene Other Disorders ____ Alexander Disease (GFAP) ____ Androgen Insensitivity Syndrome (AR) ____ Cartilage-Hair Hypoplasia (RMRP) ____ Dent Disease/ X-linked rec nephrolithiasis (CLCN5) ____ Dopa-Responsive Dystonia (GCH1) ____ Fabry Disease (GLA) ____ Hereditary angioedema (C1NH) ____ Hirschsprung Disease (RET) ____ Holt-Oram (TBX5) ____ Holoprosencephaly (SHH, ZIC2, SIX3, TGIF) ____ LEOPARD Syndrome (PTPN11, exons 7 and 12) ____ Mucolipidosis Type IV (MCOLN1) ____ Nemaline myopathy (ACTA1) ____ Popliteal Pterygium Syndrome (IRF6) ____ Pseudoachondroplasia/Mult Epiphyseal Dys (COMP) ____ VanderWoude Syndrome (IRF6) ____ X-linked Hydrocephalus (L1CAM) ____ X-linked Retinoschisis (XLRS1) ____ XY Female Gonadal Dysgenesis (SRY sequencing)

Alternatively, the following special services are available for families with specific previously identified mutations. Check one per specimen. ___ Confirmation of mutation identified elsewhere ___ Carrier Detection in relatives ___ Prenatal Diagnosis

Required Info: Gene Name ________________ Mutation(s) ________________

Relative’s Name or GeneDx Acc. No., if applicable: ______________________________


Gaithersburg, MD 20877 Phone 301-519-2100 Fax 301-519-2892

E-mail: [email protected] Web site: www.genedx.com

Payment by credit card: The full amount of the test fee is charged at the time of sample submission.

Name as it appears on card __________________________ Billing address __________________________ Mastercard Visa Discover __________________________ City, State Zip code American Express Account Number |___|___|___|___| |___|___|___|___| |___|___|___|___| |___|___|___|___| Expiration date: Month _____/ Year _____ Please bill my credit card in the amount of $__________ for diagnostic laboratory tests performed by GeneDx, Inc. _______________________________ (Required) Signature

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Section One

The Emotional Implications of Chronic Illness on MHE Patients

and Their Families

Contributors: Ronni Michelson, MSW, LSW; Susan Wynn, The MHE Coalition; Cathy Lloyd

Reprinted from The MHE Coalition Newsletter No. 5, March 1, 2001

Chapter Three Section One 1

The Emotional Implications of Chronic Illness On MHE Patients and Their Families

Ronni Michelson, MSW, LSW and Susan Wynn Disclaimer: This article is in no way a substitute for professional diagnosis and treatment, but rather an overview of a subject which may be impacting some of our readers. As stated in the article, please seek out a mental health professional and/or medical doctor with any questions or concerns. As sisters who have gone through numerous life crises together, we have seen the effects of illness, both acute and chronic, on family dynamics. During the last few years, Multiple Hereditary Exostoses has become an integral part of our lives, and we would like to share some of our observations and thoughts on the matter. MHE affects more than the bones. It can also impact the emotional well being of the person who has it, as well as the patient's family. As we all know, no one passes through life's journey unscathed, and for the most part we manage to cope with the stress and/or anxiety as situations present themselves. However, chronic illness and pain present their own problems, and MHE itself carries with it additional challenges. As MHE is a rare, orphan disease, many in the health care professions are just beginning to learn about the specifics of this disorder. Some families have reported experiences where doctors were unable to successfully diagnose and/or treat some of the ancillary components of this disorder (i.e., fatigue, poor sleep habits, chronic and/or unexplained pain, etc.). As the parent of a child with MHE, and from my experience in talking with other families, it appears that a holistic approach taken to care for the whole individual is undermined by treatment being fragmented. This is because the patient may be seen by many specialists looking at symptoms from very different perspectives, and a correlation is not always made. This can be frustrating for many patients and families, since it tends to invalidate the very real symptoms that are being experienced. Multiple members of a household may have the disease and depending on which member requires medical attention, is having pain, or requires surgery, family dynamics may be in a constant state of flux. A parent may be the caregiver one day, and a patient the next. Emotional responses to the disease are diverse and will vary depending upon attitude, growth and development, background and lifestyle. The capacity and willingness to understand the impact of the disease not only on the patient but also on each member of the family is vital to helping the family function as a unit. A lifetime challenged by pain, fatigue, surgery, and even restrictions on one's lifestyle can be devastating and may result in depression. It is important to understand that each family member responds to this illness in different ways. There is no one way to respond or feel in handling stress (for example, the husband who has difficulty discussing the disease, the mom who cries often, the sibling who behaves in an angry manner, the child who feels guilty for "causing" these problems). While family members may not see eye to eye at any one time, they need to persevere with respect for each other, allowing for open and supportive communication.


There are many coping mechanisms that can be utilized to deal with increased stress levels. Often a combination of techniques will be the most effective approach. The following are just a few suggestions:

Faith and spirituality

Support Groups

Drawing, journaling, and other expressive endeavors

Relaxation techniques, such as guided imagery, deep breathing, meditation, aromatherapy

Humor! If you've lost your smile, try to find it again. Laughter may not be the

best medicine, but it certainly is good medicine!

Adopt a healthy lifestyle, including mild exercise (remember to check with your physician before starting any new exercise program) and proper diet. Try to cut back on unhealthy habits (alcohol, caffeine, smoking, and a sedentary life style can actually stress the body and lead to increased, rather than decreased, tension).

Restructure your priorities and add some pleasurable events into your day or week.

While getting out to see a movie, or relaxing with a good book won't solve your problems, taking some time for yourself may just help you handle them a little better.

If necessary, seek professional help. There are many options that your health care

provider can discuss with you to help manage acute stress, anxiety, and/or depression.

There are times when the impact of MHE gets to the point where medical intervention is warranted, and where self-help measures are not enough, While that determination can be difficult, there are some common signs to look for in adults, children, and adolescents:

Persistent sad, "empty", or anxious mood

Feelings of hopelessness, pessimism

Feelings of guilt, worthlessness, helplessness

Loss of interest or pleasure in ordinary activities

Decreased energy, fatigue

Difficulty in concentrating, remembering, and making decisions


Sleep disorders including insomnia, oversleeping, or early morning awakening

Irritability or restlessness

Recurring thoughts of death or suicide

Persistent physical symptoms that don't respond to treatment, including headaches, digestive disorders, and chronic pain.

In addition, children and adolescents may experience some of these symptoms:

Frequent vague, non-specific physical complaints such as headache, muscle aches, stomach aches or tiredness

Frequent absences from or poor performance in school

Talk of or efforts to run away from home

Outbursts of shouting, complaining, unexplained irritability, or crying; increased anger or hostility

Lack of interest in playing with friends, social isolation, poor communication;

difficulty with relationships

Extreme sensitivity to rejection or failure

If there is any doubt or questions, please seek medical/professional help. There are many treatments available today to effectively deal with major depressive and/or anxiety disorders. Note: Some of the symptoms of MHE, such as fatigue, chronic pain, sleep disorders, etc. mimic or can be identical to those of major depression. Therefore it is even more important to seek out professional help and try to find physicians familiar with MHE and to educate and provide information to mental health professionals, so that the etiology or origin of the problem is correctly diagnosed. Lifestyle modifications may be needed to manage chronic symptoms such as chronic fatigue, in order to maximize potential and limit unreasonable expectations that may in fact lead to a depressive episode.


Resources to Learn More about Depression and Chronic IllnessCathy Lloyd To find out more information on depression and chronic illness, check out some of these sites. A number of them detail what depression is, and how it makes those suffering from it feel. Many also have links to other helpful sites. www.nmha.org: This is the web site for the National Mental Health Association. Contains information on depression, treatment and referrals to local screening sites. www.depression.com: Discusses how to cope with depression, depression in teens, and depression among people with chronic illness. www.rethink.org/at-ease: A good site with stories centered around five friends who are all dealing with depression caused by different reasons. www.healingwell.com: Has information and many links to other web sites and resources. www.depressionalliance.org: A U.K. organization, this site has many interesting links www.athealth.com: Contains information and many links about depression and chronic illness If you don't have Internet access… The National Mental Health Association also has a phone number where you can get the same information that is on their web site: 1-800-969-NMHA. The Youth Crisis Hotline: 1-800-448-4663. This is a 24-hour hotline with counselors answering the phone for teenagers to talk to about whatever situation they might be dealing with. The counselors listen and then refer the teen to someone local so they can get more help.


Section Two

Physical Therapy for Patients with Multiple Hereditary Exostoses

Contributor: Elena McKeogh Spearing, MA, PT, DPT, PCS,

Physical Therapy Manager, Children’s Hospital of Philadelphia

Physical Therapy for Patients with Multiple Hereditary Exostoses Elena McKeogh Spearing, MA, PT, DPT, PCS

INTRODUCTION: What is Physical Therapy? Physical therapy is a profession that specializes in the diagnosis and management of movement dysfunction with the goal of restoring, enhancing, maintaining and promoting not only optimal physical function but optimal wellness, fitness and quality of life as it relates to movement and health. (1) Physical Therapy can only be performed by a licensed Physical Therapist. Physical Therapists possess specialized training at the post-graduate level and have a license to practice Physical Therapy. Many people who have suffered an injury, disease or disability can benefit from Physical Therapy intervention. People who want to prevent illness and disability can benefit from Physical Therapy as well. (1) What does a Physical Therapist do? A Physical Therapist performs an examination of many systems in the body. These are the cardiovascular system, the neuromuscular system, the musculoskeletal and the integumentary system. The physical therapist looks specifically at how much a joint can move (range of motion) and how strong the muscles of the body are, including the heart. They look at what activities are hindered by pain or loss of motion or strength. Physical Therapists also examine balance, coordination and walking abilities. After a complete assessment of the information and an interview with the patient, the Physical Therapist develops a plan of care to address any issues that are present. Based on a patient’s personal goals, the Physical Therapist will develop a plan of care with specific interventions to help the patient to achieve those goals. Physical Therapists strive to provide patient and family centered care, which recognizes the importance of the patient and their family in the decision making process. Physical Therapy interventions can include stretching, strengthening, postural and aerobic exercises, functional activities and activities of daily living training. Physical Therapists also educate patients on the importance of wellness and injury prevention. Physical Therapists work as a team with other health care professionals including physicians, nurses, social workers, occupational therapists, speech therapists, recreational therapists, psychologists, and nutritionists. PHYSICAL THERAPY FOR PATIENTS WITH MHE How can Physical Therapy help patients with MHE? For patients with Multiple Hereditary Exostoses, Physical Therapy is very important. The physical therapist works together with the orthopedic surgeon to determine the best course of treatment for exostoses.

Chapter Three 1 Section Two

Pre-surgery: As described throughout this book, exostoses can be present in any bone of the body. Depending on the location and amount of pain and disability, the orthopedic surgeon may or may not recommend surgery. Prior to surgery, the focus of Physical Therapy is to prevent or slow the loss of range of motion and function that can be caused by exostoses. Conservative treatment of exostoses may include physical modalities for pain relief. Although there is no evidence that exostoses growth can be prevented or slowed with Physical Therapy, the disability associated with the exostoses can sometimes be managed effectively with therapeutic interventions. Flexibility and strengthening exercises have been shown to decrease progressive disability in patients with other musculoskeletal disorders like fibromyalgia and rheumatoid arthritis (1, 2, 3). Another focus of physical therapy, before and after surgery is required, may be to accommodate some of the deformities that occur as a result of the exostoses. These could include shoe lifts to make lengths of the legs equal, splints to protect joints and cushions to make certain positions more comfortable. Equipment can also be provided to make activities of daily living easier and less painful. These include long handled utensils, brushes, reachers and grippers. Problems with mobility can be addressed with walking aides like canes and crutches. Additionally, it has been shown that cardiovascular exercise can decrease pain and improve overall well being in patients with musculoskeletal impairments (4, 5, 6, 7). A supervised exercise program that includes aerobic exercise and strength training may also help to decrease the pain and stiffness associated with MHE. While there are many benefits to exercise, anything that causes increased pain in the area of exostoses should be discontinued and reported to the medical professional. When the decision to have surgery is made, the patient’s individual needs after surgery should be anticipated. Often, patients can be seen for a pre-operative Physical Therapy visit. During this visit, patients can learn how to use some of the equipment that they may need to use after the surgery. Practicing these new skills, like walking with crutches, or moving around with a cast or fixator, can make the patient less apprehensive about the rehabilitation process that will take place after the surgery. This pre-surgery visit is also beneficial to problem solving obstacles to post-surgery rehabilitation. For example, many patients with painful exostoses under their arms, may not be able to use traditional axillary crutches to maintain decreased weight bearing on their legs after surgery. In this case, forearm crutches or a walker may be more appropriate for the patient. Additionally, a patient who does not demonstrate sufficient endurance may need a wheelchair to use for going outside of the house after surgery. Similarly, the patient who may have decreased weight-bearing abilities after surgery will need to practice new approaches to everyday activities. These might include going up and down stairs, getting into and out of a car, using the toilet, bathing and going to school or work. The patient and the therapist can simulate these activities and problem solve together, before the surgery, so that they are prepared with successful strategies after the surgery is performed.


Post-surgery: If it is determined that surgery is indicated to remove painful exostoses and increase a patient’s function, physical therapy is important following surgery. Depending on the surgery, there may be a period of rehabilitation and the potential for a temporary decrease in function due to pain and muscle weakness. The focus of Physical Therapy after surgery is to minimize the pain and maximize the patient’s movement potential around the area that the exostoses were removed. Some patients with MHE may only require a brief hospital stay after removal of exostoses; others may require a rehab stay where more frequent and intense therapy is required. This depends on the location of the surgery, the extent of the surgery, the amount of function that is lost by the exostoses and the patient’s prior level of functioning. During rehabilitation, therapy occurs daily and includes specifically stretching and strengthening of the muscles around the area of surgery. If pain and function were limited prior to the surgery, there may be some soft tissue limitations that are present after the surgery that will require special attention. Based on the evaluation and orthopedic recommendations, weight bearing will be monitored and progressed as directed. In procedures, which include limb lengthening, physical therapy will also address the joints that surround the fixator to prevent further contractures. Once surgery incisions are healed, a heated pool may be a good environment for therapy. The water’s property of buoyancy can decrease the pain that may occur with weight bearing. Aquatic therapy can also provide an environment where muscles can be strengthened in a fun way with swimming. Once the patient’s goals are achieved and intense physical therapy is not required, transition planning will occur and recommendations for the home, work or school and community will be provided. The development of a home exercise program will maintain the gains that have been achieved through surgery and therapy and prevent secondary complications that are due to pain and immobility. Is Physical Therapy painful? Some activities that are performed in Physical Therapy can be uncomfortable because it is hard work. There are things that a therapist can do for their patient to make therapy and exercise more comfortable. Some examples of this are relaxation techniques such as deep breathing and imagery. There are also modalities like heat and ice, which can ease the discomfort caused by exostoses or surgery. Music therapy has been shown to be effective at decreasing pain in patients with other types of chronic pain (8). Are there other diagnoses that are associated with MHE and/ or MHE surgery? There are some neurological disorders that can be associated with MHE. These include peripheral neuropathy and Complex Regional Pain Syndrome. (9,10,11) Secondary complications from these can also be addressed with Physical Therapy.


In peripheral neuropathy, the nerves that control the muscles are damaged due to being compressed by exostoses. This leads to a loss of nerve conduction to the muscle and resulting weakness in that muscle. It can affect the motor part of the nerve or the sensory part of the nerve. Impairment can range from slight to complete. Because the nerves are not central to the nervous system, they can regenerate once the compression is relieved surgically. This is, however, a slow process. Physical Therapy can address this with strengthening exercises and bracing, while the nerves to the muscles are healing. (9,10) Complex Regional Pain Syndrome, type I, (also known as reflex neurovascular dystrophy “RND” or reflex sympathetic dystrophy “RSD”) is a common condition characterized by extreme limb pain associated with autonomic dysfunction. This condition is associated with mild trauma to an extremity, as in the case of a painful exostoses or surgical removal of exostoses. In this situation, there can be temperature, hypersensitivity, and trophic changes to the effected extremity. Treatment of this disorder in adults ranges from medications, surgical sympathetic nervous system blocks and psychotherapy. In children, studies show the symptoms of this condition can be controlled with physical and occupational therapy. Treatment for this includes de-sensitization techniques where various textures are applied to the affected area for prolonged periods of time. This usually begins with very light touching with cotton and progresses to different textures, such as cloth and brushes. Weight bearing activities are also essential to retraining the sensory system. Progressing weight bearing to the patient’s tolerance is an important part of treatment. If weight bearing is restricted after surgery, deep pressure applied to the extremity in non-weight bearing positions can be substituted, until partial weight bearing is allowed. Exercise is also an integral part of treatment for complex regional pain syndrome and has been shown to be an effective treatment for this chronic pain disorder without the use of medications. (11) Note from The MHE Coalition It can be very disconcerting for parents to see a child with RSD experience the episodes of burning pain associated with this disorder. It is important to remember how important treatment for this disorder is, and to work with your child’s physical therapy team in designing a program that you can carry out at home. In addition to the normal range of exercises prescribed, there are beneficial “games” that the child can play, both at physical therapy and at home. If RSD is affecting the foot, fill a pan with play sand in which you have buried some marbles and coins. Have the child put his foot in the pan and try to pick up the items with his toes. This can help with desensitizing the foot, and promote movement, which the child might be avoiding because of pain. Children also enjoy kicking balloons and lightweight balls, when they are able. Another game is to have the child pick up marbles with his toes and place them into a bowl or cup, and try to beat the previous score each session the game is played. Appealing to the child’s spirit of competition and fun can sometimes make the child forget that she is doing something therapeutic, and concentrating on the “score” can sometimes lessen the discomfort of the exercises. By working with your child, you will also discover the best way to handle episodes of pain. During some episodes, the child may not be able to stand touch, while at other times it may be necessary to apply firm pressure on the effected area. Is it safe for patients with MHE to participate in sports and recreation? Fitness and well-being is important for everyone, including the patient with MHE. Every opportunity for continuing exercise in a supervised manner should be encouraged. Sports and physical education can often be safe to participate in with a doctor’s approval as long as the patient is being monitored by the orthopedic surgeon and physical therapist. Non-contact sports like swimming, cycling, dancing, tai chi, yoga and "Pilates" can be safe and fun forms of exercise for some patients with MHE. It is important to remember that MHE affects patients differently and certain sports and recreational activities may not be appropriate choices for people whose range of motion is limited by hip, pelvis and lower extremity exostoses. Additionally, if anyone with MHE experiences pain while participating in sports or recreational activities, he/she should stop doing the activity and speak with their doctor.


Some people with MHE tire very quickly when doing physical activity. Children with MHE need frequent rest breaks. Some children may be unable to participate fully in their school’s physical education class. In these cases, there are federal laws under the Americans with Disabilities Act (ADA) and Individuals with Disabilities Education Act (IDEA), which entitle these patients to adaptations and accommodations and prohibit discrimination based on physical disability. Additionally, Physical Therapists can work with schools to adapt physical education classes or provide alternative activities in order to meet the curriculum’s health and physical education requirement.(34 C.F.R. § 300.26) Parents may also request a copy of their school district’s detailed physical education curriculum to review with their child’s orthopedic surgeon to determine if there are any activities planned which are medically restricted for the child. Some school districts have allowed students to meet Physical Education curriculum requirements with specially designed instruction like written work on Physical Education topics. While this may be an acceptable physical education substitution for some children with MHE who are very limited in their physical mobility, it may be difficult for other children with MHE to do excessive written work due to exostoses in their hands and wrist. Additionally, chronic fatigue issues can also prohibit some children’s ability to perform excessive writing activities. Some school districts have accepted a student’s performance of the home exercise program that has been instructed by his/her Physical Therapist as specially designed instruction for meeting physical education curriculum requirements. An Individualized Education Plan (IEP) team will work with parents to ensure that the child is able to access curriculum requirements while addressing the child’s unique needs. (12) Physical Fitness is an individualized concept. There are many types of activities that can be beneficial even if a person with MHE cannot participate in competitive or recreational sports due to fatigue or mobility impairments. Options for fitness include adapted wheelchair sports, seated aerobics and dance, and water aerobics. By encouraging as much independence as possible for a child in his/her school setting, he or she can get a significant amount of physical activity from walking to and from classes, sitting through classes, and keeping up with their studies. Physical Therapists can work with patients to determine their optimal activity level and options for fitness and well-being. Note from the MHE Coalition Many children with MHE enjoy playing sports and taking gym. In some school settings, families discuss the child’s condition with the appropriate school and PE personnel, with the understanding that the child should not be forced to “just try” or do any activity that causes pain or that the child knows may injure an area affected by exostoses. Other children may have pain, fatigue and mobility issues that make any activity beyond that required to get to their classes and do their school work impossible. Parents may have to act as advocates on behalf of their children in order to receive the best possible accommodations or modifications for their child’s Individual Education Plan. Your child’s doctors and physical therapists should be advised of any mobility, pain and fatigue issues, not only as regards treatment, but also so that they can be included in your child’s medical records. Medical and physical therapy reports are important documentation in support of requested modifications.


CONCLUSION: An overview of Physical Therapy for patients with MHE has been provided; however, each patient is individual and not all Physical Therapy interventions are indicated for all patients. All Physical Therapy should be patient and family centered in its approach. Exercise and fitness can be a family event and an activity that children, their siblings and parents can share to benefit each other. References: (1) Guide to Physical Therapy Practice. 2nd edition. Physical Therapy: 2001; 81:9

744. (2) Anthony KK, Schanberg LE. Juvenile Primary Fibromyalgia Syndrome. Curr Rheumatol Report.2001 Apr;3(2):165-71. (3) Klepper SE Effects Of An Eight-Week Physical Conditioning Program On

Disease Signs And Symptoms In Children With Chronic Arthritis. Arthritis Care Res. 1999 Feb;12 (1): 52-62.

(4) Han A, Robinson V, Judd M, Taixiang W, Wells G, Tugwell P. Tai Chi For Treating Rheumatoid Arthritis. Cochrane Database Syst rev. 2004; (3): CD004849H

(5) Frost, JA Klaber Moffett, JS Mose, JCT Fairbank, Randomised Controlled Trial For Evaluation Of Fitness Programme For Chronic Low Back Pain. BMJ 1995; 310: 151-154 (21 January)

(6) Varju C, Kutas R, Petho E, Czirjak L. Role Of Physiotherapy In The Rehabilitation Of Patients With Idiopathic Inflammatory Myopathies. Orv Hetil. 2004 Jan 4; 145 (1) 25-30.

(7) Stanton-Hicks M, Baron R, Boas R, Gordh T, Harden N, Hendler N, Koltenzenburg M, Raj P, Wilder R. Complex Regional Pain Syndromes: Guidelines For Therapy. Clin J Pain. 1998 Jun; 14 (2): 155-66.

(8) Standley JM, Hanser SB. Music Therapy Research and Applications in Pediatric Oncology Treatment. J Pediatric Oncol Nurs. 1995 Jan; 12 (1):3-8.

(9) Paik NJ, Han TR, Lim SJ. Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. Muscle Nerve. 2000 Aug;23(8):1290-4.

(10) Levin KH, Wilbourn AJ, Jones HR Jr. Childhood peroneal neuropathy from bone tumors. Pediatr Neurol. 1991 Jul-Aug;7(4):308-9. (11) Sherry D, Wallace C, Kelley C, Kidder M and Sapp.Short and Long term Outcomes of Children with Complex Regional Pain Syndrome type I Treated with Exercise Therapy. J Clinical Pain. 1999 15 (3): 218-223 (12) Department of Educaton. Rules and Regulations Federal Register/Volume 64. No

48/Friday, March 12, 1999.



Section Three

Products and Ideas to Help Make Living with MHE a Little Easier

Contributor: Susan Wynn

Reprinted from The MHE Coalition Newsletter No. 17, December 2004

Chapter Three Section Three 1

Products and ideas to help make living with MHE a little easier… Susan Wynn

Reprinted from The MHE Coalition Newsletter No. 17, December 2004 Living with MHE can present a wide array of challenges. Some of these challenges may be temporary, following surgery or during periods of flare-ups. Some of these challenges may be life long. Exostoses can create problems with mobility, range of motion, fine motor skills, and cause pain and fatigue that may affect the performance of daily tasks. While surgery, physical therapy and pain management may help some people with some of these issues, for the most part there is no way to remove the cause of the difficulty. Therefore, it is important for the person with MHE to find solutions to some of these basic problems, and fortunately there are many products available that can help. Assistive devices are nothing new. They are used by the elderly, by people of all ages with arthritis, by joint-replacement patients during recovery. According to The New York Arthritis Reporter, “These tools are not only helpful to get a certain job done, they are also essential to preserving the integrity of joints already compromised….Another advantage they offer is the ability to maintain the user’s independence in performing everyday activities, from personal hygiene to household chores and work-related duties.” Some of these devices can be very beneficial to MHE patients. All of the items described in the following sections can be found through the sources mentioned throughout and in the resource section. These catalogs and websites contain many additional products and ideas, and are worth looking through for suggestions to individual problems, as well as to compare similar items and prices. DRESSING AND GROOMING Challenges: A person may have trouble putting on shoes or socks, or cutting toe nails because of short or bowed forearms, or because hip or leg exostoses make bending difficult. A person with limited range of motion in shoulders may have difficulty brushing or blow drying hair. Exostoses in fingers and hands can affect one’s ability to button or tie. Solutions: There are many assistive devices available to help with these difficulties. There are several varieties of sock aids available for those who either cannot reach their feet or who have weak grasps. As a teenager looking for independence, Nicole recently began using the Sock-Assist with good results. Nicole says it takes a little time to get the socks on, but it does work. There is also a Pantyhose Aid available. Extra long shoehorns eliminate the need to bend over when putting on shoes, and a Shoe Remover is available to help take off shoes, also without bending over. For those who have difficulty tying shoes, slip on shoes are wonderful, but if you want to wear shoes that tie, shoelaces, such as Coilers, are available with coils that never need tying, or there are deluxe elastic shoelaces that allow shoes to be slipped on and off without tying and untying. DressEZ makes a combination


Long Handle Shoehorn and Dressing Aid. For those who have trouble reaching, dressing sticks are available, and for those who have trouble with their hands, Zip Grip snaps onto zippers to extend pull tabs, and Good Grips makes a button hook. Long handle toenail scissors help those with limited reach, and there is a universal extension holder available that you can attach a razor to for shaving legs. There are also long handle brushes, combs, back scrubbers and sponges to help those with limited shoulder ROM. Nail Clipper Boards and nail brushes are available on bases with suction cups to attach to sink, making their use much easier for those with hand problems. A hairdryer holder makes styling hair easier. Also important are items that address safety concerns, such as bathtub safety rails, bath or shower benches/seats, and grab bars. MOBILITY Challenges: Mobility issues can fall into two categories: dealing with mobility problems following surgery, and dealing with problems caused by exostoses, chronic pain and/or fatigue, or limb length discrepancies, including inability to walk for long distances or stand for long periods. Solutions: For postoperative patients, there are different solutions available depending upon the type of surgery and the patient’s ability (or inability) to walk. For some, a wheelchair will be necessary, while others may use walkers or crutches while they are non-weight bearing or partial weight bearing. It is a good idea to have a preoperative physical therapy session to get familiar with the type of mobility aids you will be using following surgery. It is recommended that patients with exostoses under their arms try crutches out before surgery to see if they are a comfortable option. If not, arrangements should be made for the patient to use a walker. For those suffering with chronic and severe fatigue and/or pain, wheelchairs may be necessary where prolonged periods of walking or standing will be taking place. For many, canes can provide sufficient support during mobility. There are many different types of canes which provide specific solutions. For instance, the Sport Seat (www.walkingcanedepot.com/SportSeat/SportSeat.asp) converts from a walking stick to a seat, which can be extremely helpful if legs are giving out and there isn’t a bench in sight. Folding canes are available, which are lightweight and easy to store. Nicole keeps hers in her backpack in case she has a problem at school and needs help getting around. There is a product called “Portable EZ-Step” (www.lifewithease.com/ezstep.html) that claims to reduce pain of stair climbing and makes stairways easier to go up and down. If anyone tries this product, we’d be interested in hearing your opinion. COOKING, CLEANING, AND EVERYDAY CHORES Challenges: The combination of pain and fatigue, inability to bend down or reach up, weakness or pain in hands or wrists, can make cooking and cleaning difficult.

http://www.walkingcanedepot.com/SportSeat/SportSeat.asp

http://www.lifewithease.com/ezstep.html


Solutions: The catalogues and web sites in the resource section have large selections of utensils that make kitchen work easier for those with hand and wrist problems. Good Grips makes a wide selection of products that are easy on the hands, from an ergonomic, natural grip bread knife to bottle and can openers, vegetable peelers, and scissors. Cutting boards, pan holders, and a “spreadboard” bread holder are available to allow for one-handed use without danger of things sliding away from you while you’re cutting, stirring or making sandwiches. There are many different options for opening jars, from the under-cabinet openers recommended by Audrey, to electric jar openers, and there are devices to help with pull-tabs. Just as there are products to help with grooming, there are products to help people with difficulty bending clean their homes. Brooms and dustpans and sponges are all available with long handles. Grabbers are an extremely helpful tool for picking things up off the floor or reaching things high up on shelves. There are several brands available, but Alida swears by the Golder Retriever Reacher (available at www.badback.com as well as other sites). The Roomba and other robotic vacuums can be a big help for someone who has difficulty managing regular vacuuming. Other aspects of day-to-day life can be problematic when exostoses affect fingers and hands. Products such as grips for keys and for turning small handles, as well as handle door knob adaptors can help. GARDENING Challenges: Pain and fatigue, difficulty bending and kneeling, reaching, and difficulty using regular gardening tools due to hand pain, mobility and rotation. Solutions: Catalogs, such as Life with Ease (www.lifewithease.com) offer a wide range of ergonomically designed gardening tools to help prevent hand and wrist injury, available with regular and long handles. Special rakes, shovels, pruners, hoes and other tools are all available. There is also an arm support with add-on handles that allows you to use regular tools and appliances with greater ease. Garden scoots, kneeler-stool combinations, and a lightweight foldaway wheelbarrow are all useful. SITTING Challenges: Exostoses in the hip, pelvis and femur can affect ability to sit comfortably. Hard surfaces can put pressure on exostoses, causing pain. It can be difficult, if not impossible, to get down and sit on the floor, and difficult to get back up.

http://www.badback.com/

http://www.lifewithease.com/


Solutions: There are several cushions on the market which can make sitting much more comfortable. The Therapy Shoppe Catalog (www.TherapyShoppe.com) has several available. Julie’s five-year-old son uses the “Disc’O Sit”, and Nicole, a high school sophomore, uses the Fit-sit Cushion. Not only do these cushions relieve pressure on exostoses, but they also address fidgeting and fatigue issues. These cushions can be used on the floor as well as on chairs. If you need help getting out of your chair, there is a self-powered lifting cushion to provides a boost, and there are chairs that contain actual lifts to help lower you down, recline, sit up and then rise to almost standing position (www.Dynamic-Living.com). DRIVING Challenges: Difficulty getting in and out of the car; difficulty pressing on gas and accelerator. It can be difficult to open the gas cap. Solutions: Nathalie is applying for funding to have an accelerator placed on the steering wheel, as driving is painful for her. She’ll let us know how this goes! There is a swivel seat to help you sit and swivel your legs into and out of a car, and there are hand bars that are secured to the frame of the car door that offer stability when getting in and out of a car. A Universal Grip can be used to help open the gas cap. SLEEPING Challenges: As with sitting, lying down puts painful pressure on exostoses. For many with MHE, a good night’s sleep is impossible. It can also be difficult getting out of bed. Solutions: Fortunately, there are many new mattress options that offer some relief. Chris uses a sleep number bed (an air mattress that you can control the firmness of), with a Tempur-pedic mattress topper. (www.tempurpedic.com). Nicole uses the Versailles memory foam mattress set and pillow from Dormia (www.dormia.com), which works better than anything else she has ever tried. Christina recommends the True Sleeper mattress topper, which is more economical than Tempurpedic and Dormia (www.thane.com. Search for True Sleeper). In Karla’s house, three family members with MHE use three different solutions: One uses a water bed because of bowing and nerve damage to legs, one uses a water bed with lots of pillows for legs and back, and one uses an inexpensive memory foam mattress topper from Target (www.target.com. Search for Memory foam mattress topper). There are many different versions of the memory foam mattress toppers and mattress sets available, in many different price ranges. Most everyone we asked does use a lot of pillows to cushion bumpy bones somewhere on their body, no matter what type of mattress they use.

http://www.therapyshoppe.com/

http://www.dynamic-living.com/


http://www.tempurpedic.com/

http://www.dormia.com/

http://www.thane.com/

http://www.target.com/


Julie’s son uses a down comforter with fleece on one side for extra softness and warmth without extra bulk or weight, which is also an important consideration. Julie’s friend makes duvet covers for her children out of sheets, thereby eliminating the sheet part of making the bed. Since the cover is sheets, they can sleep under one piece without getting wrapped up in extra layers of cover and weight, the covers can easily be removed and washed, and it makes it easier for kids to make their beds. Deena recommends body pillows from Gaiam – A Lifestyle Company (www.gaiam.com). The pillows are in wholly organic cotton covers that feel very good. Also available are cushions for lumbar support, and gel wraps with cotton covers for pain relief and neck support. For anyone who has difficulty getting out of bed, there are various types of bed pull-ups, bed canes, and handle systems to help make getting up easier. There is also a leg lifter to help raise or lower legs without bending over. WRITING, KEYBOARDING Challenges: Hand and wrist pain makes writing painful and difficult. Solutions: For those who have an extremely difficult time keyboarding, Nathalie recommends a computer program that allows you to dictate to your computer, “Dragon Naturally Speaking.” The latest version is supposed to be much better than previous versions. While Nathalie says it does take time to learn the commands of how to use the program, it provides the wonderful opportunity of being able to work without typing. For those who have pain when writing, there are many pens and pencils now available on the market designed to be more comfortable to hold. There are also grips available to use with regular pens and pencils. Many students use an Alphasmart keyboard, an inexpensive alternative to a laptop computer (www.alphasmart.com). New technology provides wrist and hand rests for computer users, and better mouse design. (www.quillmouse.com/products/). There are many products including braces, heat and ice packs that can help during painful flare-ups. There are many other products, too numerous to list here, that make life for those with MHE and other musculoskeletal diseases easier and more productive. If you have recommendations for products that help make your life easier, please let us know. The MHE Coalition does not endorse any of these products. As our disclaimer states, while many find the information and experiences that we share helpful, they are in no way a substitute for professional medical care. We do not, as an organization, support or endorse any particular treatment, therapy or medication. However, we hope that these ideas will encourage you to investigate the many products that are available.

http://www.gaiam.com/

http://www.alphasmart.com/

http://www.quillmouse.com/products/


RESOURCES The products listed above are available from a variety of sources, and it is a good idea to shop around and compare items and prices. Dynamic Living, Inc., 1-888-940-0605, www.dynamic-living.com428 Hayden Station Road, Windsor, CT 06095 (print catalog available) Functional Solutions, 1-800-235-7054, www.BeAbleToDo.comNorth Coast Medical, Inc., 18305 Sutter Boulevard, Morgan Hill, CA 95037-2845 (print catalog available) Life with Ease, 1-800-966-5119, www.lifewithease.comP.O. Box 302, 435 Rt. 103, Newbury, NH 03255 (print catalog available) The Therapy Shoppe, 1-800-261-5590, www.TherapyShoppe.comP.O. Box 8875, Grand Rapids, MI 49518 (print catalog available) Alphasmart, www.alphasmart.com The Arthritis Foundation, www.arthritis.org, Product and Services Directory Dormia, www.dormia.com Gaiam, www.gaiam.com The Golden Retriever Reacher, 1-800-745-9558, www.badback.com Pain Reliever.com, www.painreliever.com Tempur-pedic, www.tempurpedic.com Walking Cane Depot, 1-888-399-4870, www.walkingcanedepot.com The Wright Stuff, Inc., Athritis Supplies, www.arthritissuplies.com Many thanks to all those members of the MHE Yahoo Online Support Group who shared their product recommendations and ideas.


http://www.beabletodo.com/

http://www.lifewithease.com/

http://www.therapyshoppe.com/

http://www.alphasmart.com/

http://www.arthritis.org/

http://www.dormia.com/

http://www.gaiam.com/

http://www.badback.com/

http://www.painreliever.com/

http://www.tempurpedic.com/

http://www.walkingcanedepot.com/

http://www.arthritissuplies.com/


Section Four

Preparing for Your Next Medical Appointment

Reprinted from The MHE Coalition Newsletter No. 16, June 2004

Chapter Three Section Four 1

Preparing for Your Next Medical Appointment Reprinted from The MHE Coalition Newsletter No. 16, June 2004

Whether the patient is your child or yourself, you are an important part of a health-care team. Together with the orthopaedist treating you and/or your child, your team may also include physical therapists, occupational therapists, pharmacists, pain specialists, x-ray technicians and others involved with the ongoing treatment of MHE. During a doctor’s appointment, it’s easy to get sidetracked. Anxiety often runs high and can block your clearest thinking. Doctors have schedules to keep and are often pressed for time. If you feel pressured during the appointment, it may be difficult to stay focused on addressing each of your concerns. Maximize your time with the doctor by preparing for your appointments beforehand. Here are a few suggestions for making the most of your next appointment.

If seeing a new doctor, or if you are having several problems that need to be addressed, tell the office when you call for an appointment that you will need sufficient time to talk to the doctor.

If you or your child is a new patient, arrange to have medical records and x-rays transferred to the new physician before the appointment.

Write down your questions and then prioritize them. For instance, put a #1 by the most important, #2 by the next most important, etc.

Start by asking the doctor the most important question first, then the next most

important, and so on. Stay focused on your questions. If you wander into interesting side stories you will lose valuable time.

When you arrive for the appointment, give the medical assistant a copy of your written questions and ask that they be put on the front of the chart so the doctor can see them.

If possible, have someone come with you into the exam room. This person should

also have a copy of the questions. He or she can take notes during the appointment and help make sure your questions have been addressed to your satisfaction.

Bring all your medications with you to the appointment. Let your doctor know all the

over-the-counter medications you are taking and how much.

If you hear words you do not understand, ask for an explanation. Doctors are used to using medical terms and sometimes forget that it includes words the rest of us do not understand.

If the doctor does not have enough time, ask if someone else on his / her staff can

answer your questions. Remember, you have a right to have your questions answered.

Chapter Three Section Four 2

When a surgery is recommended, ask about the benefits and the risks, as well as any alternatives. Ask your doctor about pain management after surgery, as well as pain management after release from the hospital.

Ask your doctor to show you the X-rays and have him/her explain the surgery showing you the X-rays. This way you can show the doctor pointing to the X-ray something you may not understand.

Don’t be afraid to let your doctor know you don’t understand something.

Spend time after the visit talking with the person who came with you. He or she will

likely have good insights about the appointment and can help you identify any areas that are still unclear

Ask the doctor to send a copy of his /her report to your home.

Pain Issues can be better addressed by your doctor if you provide complete

background information: If you have pain issues, you will want to fill out a pain diary. Make a copy of your pain diary to give to your doctor, so you can go over it together and the copy will be made part of your medical records. Include the following information:

• Location(s) of your pain. • Description of your pain: sharp, stabbing, burning, nagging, stiff, throbbing, etc. • It’s helpful to also use a pain scale to describe your pain: 0 being the least

amount of pain and 10 being the most amount of pain. • How long does the pain last? • How do you feel when you wake up? • What aggravates the pain? • When does pain start in the day? • What activities cause pain? • What is pain like at mid-day; what is pain like in the evening; what is pain like at

night in bed? • Does pain wake you up? • Do you currently take medication for pain. If so, what do you take (name of

drug, dosage) • Are there any other treatments that help relieve your pain (i.e. heat, ice, exercise,

rest, etc.). • How long does it take to get pain relief after you take your medication? • Does pain come back before you are next scheduled to take your medication? • Does driving affect your pain? • What activities are you unable to do because of pain? • How does your job (or school) affect your condition? • Watch to see if any patterns develop and let your doctor know. You may also

want to fill out a bumpy bone tracker and a pain tracker, which can both be printed from the MHE and Me website. Print out a copy of the pain study summary off the MHE Coalition website and give it to your doctor.


Section Five

MHE Surgery: Some helpful tips and advice from families who have been

through it

Reprinted from The MHE Coalition Newsletter No. 10, June 1, 2002

Chapter Three Section Five 1

MHE SURGERY Some helpful tips and advice from families who have been through it

Reprinted from The MHE Coalition Newsletter No. 10, June 1, 2002

With several new members facing their children’s first surgeries, we decided that this would be a good time to revive the idea of an MHE Surgery Handbook. Starting this project on a small scale, I asked for input from YahooGroups members. Our thanks to JoAnn, Cassie, Kate, Karla, Max, Chele, and Suzanne for sharing what they have learned through their children’s (and in some cases their own) surgeries. We would love to get more tips for the MHE Surgery Handbook for both children and adults, including specific hints for different procedures (i.e., fixators, hip surgery, arm surgery, hand surgery, etc.). Please send them to me at [email protected], or by mail to 14 Stony Brook Drive, Pine Island, NY 10969. Thanks! Susan Wynn Preparing for Surgery

Find out everything you can about the surgery, hospital procedures before hand (Will you be allowed to accompany your child into the operating room and stay with him or her while anesthesia is being administered? How will anesthesia be delivered? Will you be allowed into the recovery room, and when? Will a parent be allowed to sleep in the child’s room, visiting hours, etc.). Don’t assume that every hospital allows the same level of parental participation. Knowing as many details as possible will help make you less anxious, and you’ll know that you’ll be able to keep promises that you make! A calm parent makes for a calmer child. If you are having difficulty dealing with your own anxiety, speak to your doctor about ways to handle it.

Suzanne says the one thing that most helped her son, Bobby, prepare for surgery was the hospital tour. The entire family participated in a tour of the operating and recovery rooms, and Bobby got a first hand look at the table, the lights, and the equipment, receiving explanations of the procedures so that there was little left to the imagination and his fears were allayed. Several other parents have said that the pre-hospital tour is helpful for the whole family.

Max advises families having surgery done at a large medical campus to look at a map and know where everything is before you go! It’s easy to get lost, especially when you’re anxious and feeling overwhelmed.

JoAnn found a wonderful website that features “You’re Having Surgery! A preparation guide and coloring book for pediatric surgery”. This is available at http://cmc.mcg.edu/kids_families/kids/index.htm

There are books available to help kids of all ages deal with their anxieties about undergoing surgery. An MHE and Me favorite is: “Franklin Goes to the Hospital” by Paulette Bourgeois and Brenda Clark, and we try to send copies of both the book and coloring book, along with a stuffed animal, to young children scheduled for surgery whenever possible.

If you are unable to make it to the hospital for a tour, there are online hospital tours available

.

mailto:[email protected]

http://cmc.mcg.edu/kids_families/kids/index.htm


Karla has a tip to help make pre-ops go a little easier: Start drinking lots of water 2 or 3 days before going to the hospital to make veins nice and “plump”, so that pre-op blood work will go easier.

If your child will need crutches, a walker, or a wheelchair after surgery, try to arrange for pre-surgical training. It is a big help if a child can learn to get around before he or she is experiencing post-operative pain.

Have your doctor give you prescriptions for pain medication prior to the surgery, so that you can have it filled and waiting for you at home when you arrive back from the hospital. Most children only need prescription pain medication for a few days. Cassie recommends speaking to your doctor about “layering” Tylenol with Motrin after surgery, which means giving Motrin or Tylenol, then a specified number of hours later giving the other. As always, be sure to check with your child’s physician about any medications. Cassie also recommends stocking up on Benadryl, for the itchies that often seem to occur after surgery.

Will your child be in a cast or an immobilizer after surgery? Before surgery is a good time to try ways to get in and out of the car, up and down stairs, etc. Wrap your child’s leg or arm in a big towel, then playact how you will be able to accomplish these normally easy acts. This is something we wish we had thought of before Nicole’s first surgery. The logistics of getting in and out of the car, then having to carry her into the house were just things that never occurred to us, and it was very, very difficult. We’ve gotten much better with practice, and Nicole is great at figuring out alternate methods of mobility.

A pre-surgery shopping list might include items like: flushable wet wipes (sometimes a bedpan is necessary for a day or so…), disposable, rinse-free cloths (like Comfort Bath), which you can heat in the microwave (they now also make a special cap for a water-free “shampoo, too). Kate suggests liquid shower gel, since regular soap is too hard to rinse off in a sponge bath.

Ginger ale or coke, Popsicles, Jello, crackers, etc., in case your child is queasy, something that can last for several days after surgery. Loss of appetite is common, and can last for awhile. Meal replacement drinks can be helpful, if your child will take them.

Cassie recommends bags of frozen peas to use as icepacks after surgery. (Just be sure to mark the bag. Since it will be in and out of the freezer, you won’t want to cook them). Another handy item for when you’re ready to use heat: socks filled with raw rice (not instant) and tied at the top are microwaveable and make great heat packs. Use different size socks for different areas! (Soccer socks can make great heat wraps for around the neck and shoulders!).

Think ahead to what your child will wear home from the hospital. If you’re having arm surgery, Kate says that, since you won’t be able to pull things over your head, tops and pajamas that button are absolutely essential. If the leg will be in an immobilizer or cast, you will need wide leg, stretchy shorts or sweats that will fit over it, and loose-fitting socks and slippers can be of help, too. You’ll also need underwear that can fit over the bandages, etc., so make sure it’s stretchy enough!


Packing for the Hospital

Karla’s list included some great ideas: Pack a disposable camera and get pre and post-op snapshots, plus photos of all the wonderful hospital staff. Have duplicates made and send the hospital a set, too! Bring a favorite movie to the hospital, labeled with own name. (Note: Double check with the hospital to make sure a VCR will be available for your child. Not all hospitals have them, as we found out when we went prepared with Nicole’s favorite tape). Bring a favorite soft blanket or pillow for cuddling with. Buy new soft slippers for your child’s hospital stay and give them as a surprise at the hospital.

Cassie brings along her own feather pillow. Conor uses it when he needs it, either for comfort, or for extra propping, and Cassie uses it when Conor doesn’t need it. Cassie also brings along a supply of soda, and a book or video for her to watch for those times Conor’s sleeping.

Make sure you have a pad and pen with you to write down any instructions the medical staff might give, and to write down questions you might have. Keep track of when pain and other medications are given and when your child will be due for the next dose. There are times when you will need to make sure your child gets his pain medication on schedule. You don’t want to wait until your child is hurting.

Even if your child is scheduled for same-day surgery, it doesn’t hurt to throw into a bag, toothbrushes, toothpaste, a clean t-shirt, and other essential items, just in case it turns into an overnighter.

Bring along a few snacks. You may not be able to get away for meals. Also pack any medications you might need, for headache, backache, etc. The experience can be both emotionally and physically stressful.

The Ride Home

agrees – bring plenty of pillows for the car, for the ride home. You’ll want to cushion the area operated on, and make the patient as comfortable as possible. Another helpful item is a small plastic garbage can and some plastic liners, just in case your child gets sick on the way home. Keep some towels and wet wipes in the car, too.

Chele has plenty of experience here and, besides collecting all bed pillows in the house, advises that driving home, take it slow, avoid railroad tracks, and time your departure after your child has had pain medication and it has begun to take effect.

Even though it can be difficult, be sure to use the seatbelt! When you Get Home

If possible, have someone set up the bed for the patient so it’s all ready for your arrival. We usually have Nicole sleep on the living room couch for a few days post-op. It’s a good height for her, and there is an easier path for her to get to the bathroom with her walker. There is also room there for me and her younger sister to camp out with her. We have the couch covered in several soft quilts, plenty of pillows, and that same plastic garbage can nearby, as nausea can continue for several days post-op. I usually wind up sleeping near Nicole for several days post-op. Depending on the recuperation and type of surgery, parents have been known to “camp out” for much longer periods.


According to Chele, the day you come home from the hospital, and the next day, are the worst, so be prepared. She also advises that it will probably be between 5 and 7 days before you get a full night’s sleep, so nap when your child naps, sleep when your child sleeps, and have plenty of coffee on hand!

The first few days post-op, make sure that pain medications are given on schedule. Once pain starts, it’s harder to control.

Remember that this is a hard time for siblings, who are bound to feel frightened when they see their brother or sister in pain, and left out and forgotten when their needs have to take a backseat to a post-op patient.


Section One

Hereditary Multiple Exostoses and Pain Abstract of Study Published in

Journal of Pediatric Orthopaedics

Contributors: Sandra Darilek, MS, Catherine Wicklund, MS, Diane Novy, PhD, Allison Scott, MD, Michael Gambello, MD, Dennis Johnson, PhD and Jacqueline Hecht, PhD

Chapter Four 1 Section One

Hereditary Multiple Exostosis and Pain

Sandra Darilek, MS,* Catherine Wicklund, MS,† Diane Novy, PhD,‡ Allison Scott, MD, § Michael Gambello, MD, PhD, *Dennis Johnston, PhD,

{ and

Jacqueline Hecht, PhD* Abstract:

This study was undertaken to characterize pain in individuals with hereditary multiple exostosis (HME). Two hundred ninety-three patients with HME completed a questionnaire designed to assess pain as well as its impact on their life. Eighty-four percent of participants reported having pain, indicating that pain is a real problem in HME. Of those with pain, 55.1% had generalized pain. Two factors were found to be associated with pain outcome: HME-related complications and surgery. Individuals who had HME-related complications were five times more likely to have pain, while those who had surgery were 3.8 more likely to have pain. No differences were found between males and females with respect to pain, surgery, or HME-related complications. The results of this study indicate that the number of individuals with HME who have pain has been underestimated and that pain is a problem that must be addressed when caring for individuals with HME.

Key Words: hereditary multiple exostosis, pain, exostoses, osteochondromas, support group

(JPediatrOrthop2005;25:369–376)

From*Department of Pediatrics, University of Texas-Houston Medical School, Houston,Texas; †Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas-Houston Medical School, Houston, Texas; ‡Department of Anesthesiology, University of Texas-Houston Medical School, Houston, Texas; §Shriners Hospital for Children, Houston, Texas; and

{Department of Biomathematics,

University of Texas, M.D.Anderson Cancer Center, Houston, Texas.

Study conducted at the University of Texas Health Science Center, Houston, Texas.

The MHE Coalition (http://www.mhecoalition.com) provided partial funding for this study. None of the authors received any additional financial support.

Reprints: Jacqueline T.Hecht,PhD, Department of Pediatrics, University of Texas-

Houston Medical School, P.O.Box 20708, Houston,TX 77225-0708 (e-mail [email protected]).

Copyright © 2005 by Lippincott Williams&Wilkins

http://www.mhecoalition.com/

Chapter Four 2 Section One


Section Two

American Pain Foundation Pain Action Guide

Contributor: Reprinted with permission of The American Pain Foundation

Chapter Four Section Two 1

Pain Action Guide © 2001 American Pain Foundation

201 N. Charles Street, Suite 710, Baltimore, Maryland 21201-4111 Used by permission of The American Pain Foundation

For more information, please visit their web site at http://www.painfoundation.org, or call 1-888-615-PAIN

Pain Care Bill Of Rights As a Person with Pain, You Have:

The right to have your report of pain taken seriously and to be treated with dignity and respect by doctors, nurses, pharmacists and other healthcare professionals.

The right to have your pain thoroughly assessed and promptly treated. The right to be informed by your doctor about what may be causing your pain,

possible treatments, and the benefits, risks and costs of each. The right to participate actively in decisions about how to manage your pain.

The right to have your pain reassessed regularly and your treatment adjusted if your pain has not been eased.

The right to be referred to a pain specialist if your pain persists. The right to get clear and prompt answers to your questions, take time to make

decisions, and refuse a particular type of treatment if you choose. Although not always required by law, these are the rights you should expect, and if

necessary demand, for your pain care. How serious is the pain problem? Pain is a major healthcare crisis in the United States. More than 50 million Americans suffer from chronic pain caused by various diseases and disorders, and each year another 25 million experience acute pain as a result of injury or surgery. Although most pain can be relieved or greatly eased with proper pain management, the tragedy is that most pain goes untreated, undertreated, or improperly treated. No one should have to suffer needlessly when the knowledge and skills are available today to manage most pain. If left untreated, chronic pain can prevent you from having a full and meaningful life. Once your pain is under control, your body and mind will be less stressed. You'll be able to sleep better, focus on work, enjoy relationships with family and friends, and take part in social activities. If your pain has been caused by an injury or surgery, your recovery may be faster once your pain is managed. Finding good pain care and taking control of your pain can be hard work. Learn all you can about pain and possible treatments. Be persistent, insist on your rights, and don't give up.

http://www.painfoundation.org/


If most pain can be eased, why do so many people with pain suffer needlessly? Many of us have beliefs about pain that are simply not true and prevent us from getting the relief we deserve. The truth is: Pain is not something you "just have to live with." Treatments are available to relieve or lessen most pain. If untreated, pain can make other health problems worse, slow recovery, and interfere with healing. Get help right away, and don't let anyone suggest that your pain is simply "in your head." Not all doctors know how to treat pain. Your doctor should give the same attention to your pain as to any other health problems. But many doctors have had little training in pain care. If your doctor is unable to deal with your pain effectively ask your doctor to consult with a specialist, or consider switching doctors. Pain medications rarely cause addiction. Morphine and similar pain medications, called opioids, can be highly effective for certain conditions. Unless you have a history of substance abuse, there is little risk of addiction when these medications are properly prescribed by a doctor and taken as directed. Physical dependence-which is not to be confused with addiction-occurs in the form of withdrawal symptoms if you stop taking these medications suddenly. This usually is not a problem if you go off your medications gradually. Most side effects from opioid pain medications can be managed. Nausea, drowsiness, itching, and most other side effects caused by morphine and similar opioid medications usually last only a few days. Constipation from these medications can usually be managed with laxatives, adequate fluid intake, and attention to diet. Ask your doctor to suggest ways that are best for you. If you act quickly when pain starts, you can often prevent it from getting worse. Take your medications when you first begin to experience pain. If your pain does get worse, talk with your doctor. Your doctor may safely prescribe higher doses or change the prescription. Non-drug therapies such as relaxation training and others can also help give you relief. How do I talk with my doctor or nurse about pain? 1. Speak up! Tell your doctor or nurse that you're in pain. It is not a sign of personal weakness to tell them about your pain. Pain is a common medical problem that requires urgent attention. So don't be embarrassed or afraid to talk about it. 2. Tell your doctor or nurse where it hurts. Do you have pain in one place or several places? Does the pain seem to move around?


3. Describe how much your pain hurts. On a scale from 0 to 10, zero means no pain at all and 10 means the worst pain you can imagine. In the past week, what was the highest level of pain you felt? When did you feel it? What were you doing at the time? When did it hurt the least? How bad does it hurt right now? 4. Describe what makes your pain better or worse. Is the pain always there, or does it go away sometimes? Does the pain get worse when you move in certain ways? Do other things make it better or worse? 5. Describe what your pain feels like. Use specific words like sharp, stabbing, dull, aching, burning, shock-like, tingling, throbbing, deep, pressing, etc. 6. Explain how the pain affects your daily life. Can you sleep? Work? Exercise? Are you able to do activities with family and friends? Can you concentrate on tasks? How is your mood? Are you sad? Irritable? Depressed? Do you feel unable to cope? 7. Tell your doctor or nurse about past treatments for pain. Describe any medical treatments you've had such as medication or surgery, and mention other approaches you've tried. Have you done massage, yoga or meditation? Applied heat or cold to the painful areas? Exercised? Taken over-the-counter medications, or supplements such as vitamins, minerals, and herbal remedies? Tried other treatments? Explain what worked and what didn't. Tip: Write down your questions for the doctor or nurse before an appointment. People often get nervous and forget to ask all their questions. Take notes so you can review them later. If possible, bring along a family member or friend to provide support, help take notes, and remind you of what was said. How can I get the best results possible? Take control. It's your responsibility to tell your doctor you're in pain, take part in planning your treatment, follow your pain management plan, ask questions, and speak up if treatment isn't working. If necessary, seek other help. Be persistent until you find what works best for you. Set goals. Once you've found a doctor you trust, decide with your doctor on some realistic goals for things you most want to do again - for example, sleeping, working, exercising, enjoying sexual relations, etc. Begin working on the easiest goals first. Work with your doctor or nurse to develop a pain management plan. This might include a list of medications, when to take them, and possible side effects. It might include therapies other than medication. Make sure you understand the plan and carry it out fully. If you don't, you are less likely to get relief. Keep a pain diary. Write down information about your level of pain at different times, how you're feeling, and what activities you're able to do or not do. Keep a record of medications you're taking or any non-drug treatments. The diary will help you see what's working and measure progress. Bring your diary on visits to the doctor.


Ask your doctor or nurse about non-drug, non-surgical treatments. These could include relaxation therapy, exercise, massage, acupuncture, meditation, application of cold or heat, behavioral therapy, and other techniques. Ask your doctor or nurse about ways to relax and cope with pain. The way you feel about your pain can actually affect the pain itself. Your pain may feel worse if you are stressed, depressed, or anxious. If you have questions or concerns, speak up. If you're worried about medications or other treatments, ask your doctor or nurse. If your treatment is not working, insist that your pain be reassessed and new treatments offered. Be polite, but be firm. If you're going to have surgery, ask your doctor for a complete pain management plan beforehand. Ask what medications you will receive before the operation to minimize pain later, and what will be available for pain relief afterwards. If you're a patient in a hospital or other facility and you're in pain, speak up. Ask a doctor or nurse for help. If you don't get help right away, ask again. If you still don't get help, ask to speak to the patient advocate or representative. Most likely the doctor or nurse will respond, but be sure to insist on effective pain care without delay. Pace yourself. Once you experience some degree of control over your pain, don't overdo it. Your body may be out of condition if you have been suffering pain for awhile. Take time to gradually build up to normal activity. If you're not satisfied with your pain care, don't give up. Does your doctor listen to you? Is your doctor able to assess and treat your pain? Are you getting adequate care? If after a reasonable time the answer is "no," find another doctor or pain care program.


Section Three

Evolving Views on Opioid Therapy for the Management of Chronic Pain.

Pain Killers (Analgesics): Panacea, Poison or Somewhere in Between

Contributor: Richard B. Patt, M.D., President and Chief Medical Officer, Patt Center for Cancer Pain & Wellness, Houston, TX; Inpatient Medical Director, Hospice, Texas Medical Center; Co-author, You Don’t Have to Suffer (Oxford, 1994). Reprinted from The MHE Coalition Newsletter No. 8, December 1, 2001

Chapter Four Section Three 1

Evolving Views on Opioid Therapy for the Management of Chronic Pain

Pain Killers (Analgesics): Panacea, Poison or Somewhere in Between Richard B. Patt, M.D.

What are opioids? There are at least two important ways to answer this question. Unfortunately, the most scientific definition, while straightforward, is so disarmingly simple, that it doesn't tell us nearly all of what we need to know about these medications, because it ignores the important cultural forces that influence our use of these medications: the opioids comprise a class of medications that have been employed to relieve pain for well over one hundred years. Their use is so routine in certain settings (after surgery, in the Emergency Room, for labor and delivery, for cancer and in the laboratory) that they are regarded as the standard against which all other pain-killing drugs (analgesics) are compared. These drugs, previously referred to as "narcotics" are derived from or are chemically related to opium, the main constituent of the poppy plant (papaver somniferum), which has been used as a pain killer since biblical times. Science has only recently demonstrated that the human body makes substances that possess a similar structure and function. These endorphins, enkephalins and other molecules, referred to as "endogenous opioids," are thought to be responsible for the so-called "runner's high." While the above explanation is accurate, it does not even begin to portray the raging controversy that exists surrounding the contemporary use of opioids. While the term "opioid" is awkward at first, it is preferred to the term "narcotic." Contemporary authorities including the authors of our most important pharmacology textbook, Goodman and Gillman's The Pharmacologic Basis of Therapeutics have advised that we abandon the term narcotic. It is so culturally and socially laden with references to drug abuse that its use has a chilling effect on prescribers and patients alike, interfering with appropriate treatment of pain. The lurid images of back alley abuse conjured by the term narcotic eclipse its scientific meaning, and as a result, the term opioid is strongly preferred. In the midst of the tremendous progress that has been made generally in medicine and specifically in our understanding of pain and its treatment it is practically unthinkable that the individual who has done the most to advance our thinking about this issue is Jack Kevorkian. It has taken, arguably a fanatic, if not a lunatic (this author's thoughts) to bring to our attention that despite the most sophisticated health care delivery system in the world, many Americans inappropriately are led to seek an early death because their pain is not adequately addressed. Since medical science is by no means perfect, those who suffer are not necessarily entitled to relief of their pain, but they are certainly at least entitled to our best efforts to achieve improvement, and by no means should they be subjected to humiliation or derision for seeking the relief of suffering. Although when ignored, unrelieved pain like any other chronic illness leads to depression, pain is almost always fundamentally a medical problem, so we should no more coerce the sufferer to "tough it out" than we would encourage a diabetic to withhold taking their insulin as a means to "build their character." While we don't readily admit it, modern medicine actually cures very little of today's maladies: diabetes and hypertension are not eradicated, but are managed, and thus the mandate to manage chronic pain over a


patient's lifetime should not be a surprise or a dilemma that we, as a culture, should shrink away from. These unfortunate individuals should certainly not be discarded as having "failed" our current treatments, rather we should acknowledge the shortcomings of current therapies. It is only recently that pain in patients with life threatening cancer has been treated more effectively, and although legislation exists to protect the rights of those with chronic pain (and the prescribing physician), in reality, one practically needs to be dying in this country in order to be assured of getting adequate pain relief. Can opioids (narcotics) be used effectively to treat chronic pain? I've already indicated that the use of opioids is controversial in essentially all settings. Debate still persists about medicating terminal patients, so you can imagine how heated the discussion becomes for treating chronic pain, a setting in which there is no end in sight and where complaints often appear to be out of proportion to accompanying physical signs or x-ray findings. Regrettably, most of today's cure-oriented physicians still do not understand chronic pain. Since it has only been recently that, stimulated by hordes of frustrated patients, a few physicians have even developed the courage to ask questions about chronic pain and opioids, it is not surprising that answers are still elusive. This question is actually probably best regarded as two related questions: (1) are opioids effective in relieving chronic pain, and (2) if so, when (if ever) is their use appropriate? The bad news is that the ultimate answer to whether opioids are effective in the long term will only be answered with certainty with controlled clinical trials which have not even yet been proposed. Since it would be unethical to allow patients to suffer while awaiting this data, we need to be asking what is known that will help guide today's treatment safely?

The good news is that there has been increasing experience with using opioids to treat chronic pain due to a variety of causes. While still not as reliable as a controlled trial, data from this experience can be cautiously applied to many of today's patients with chronic pain. It appears that opioids effectively reduce pain over long intervals in a proportion of patients with chronic pain without intolerable side effects or problems with addiction. One key point here is that as long as the source of pain persists, pain can often be reduced but rarely if ever is it eliminated. Thus, if treatment is to even have a chance at success, patients must maintain realistic expectations, such as a 50% reduction in pain severity. Another key point relates to side effects: in fact, most patients will experience side effects when opioids are first started or their dose is changed, but when medications are started in low doses, are only gradually increased, and with reliance on long-acting formulations side effects can usually be resolved or minimized. Most patients will continue to experience low level side effects as long as opioid therapy is ongoing, but this may represent a reasonable tradeoff if pain is severe. While opioids may produce dangerous respiratory depression when used erratically, this almost never occurs with carefully supervised use. Nausea, sedation and itch are common at first, but usually resolve over time. Constipation is an ongoing difficulty that can and must be prevented with activity, diet and regular gentle laxative use. Because fatigue so commonly accompanies chronic pain, most patients cannot tolerate high doses of opioids, and thus must be satisfied with partial relief. In other words, while opioids are helpful in some cases, they don't eliminate chronic pain: patients continue to have ongoing, but lower


grade symptoms, with some good and some bad days. These drugs are not a panacea, but simply represent one of the many tools at our disposal to help make chronic pain more bearable. Moreover, opioids are usually not a first line treatment, and work best when integrated with other drug treatments like antidepressants, anti-inflammatories, muscle relaxants and anticonvulsants, as well as with non-drug therapies like physical therapy, distraction and relaxation training. Addiction Revisited In considering the contemporary role of opioids it must be borne in mind that, although these substances are subject to abuse, the intention for which opioids exist is the treatment of pain. Far too often, the potential for abuse interferes with the appropriate use of pain medications for those in need. Although drug abuse is a compelling public health problem, allowing abuse potential to limit access to opioids for those with medical illnesses is an unjust response. A useful analogy is our system of using checks to pay for purchases which is circumvented when "bad" checks are "bounced," ---- but we don't respond by banning checks as legal tender, a policy decision that would punish everyone. If you believe in a higher power, especially one that did not put us here to suffer unnecessarily, then we can reason that God gave us the opioids and their derivatives to better cope with pain and suffering. Unfortunately, as a culture we have been tragically ineffective in distinguishing between drug abuse and the treatment of pain, and thus when it comes to pain medications, it has been a classic case of a few bad apples ruining things for the whole bunch: today's patients with pain have become the innocent victims of a war on drugs that should have nothing to do with them. Research consistently demonstrates that exposure to pain medications does not foster addiction. In fact, under-prescribing is more likely to fuel addictive behavior, because pain is never relieved, and patients are left feeling abandoned, left to continually seek help that becomes increasingly elusive. With chronic treatment, patients may become tolerant or accustomed to the effects of opioids (thus requiring higher doses over time), and physical dependence (the onset of withdrawal or an abstinence syndrome when treatment is abruptly stopped) may arise, but addiction, a reversible complication, is extremely rare, occurring in no more than a few per cent of patients exposed to analgesics in the course of treatment. Tolerance and physical dependence are inevitable biologic consequences of chronic opioid use, that are independent of the patient's background, values and circumstances. The onset of tolerance and physical dependence are expected, are unrelated to addiction and are not problematic since they can be overcome by simply adjusting doses of medications gradually. Addiction, which is the same as psychological dependence, is an infrequent outcome that is highly dependent on the patient's prior history, experiences and values. Addiction involves compulsive, nonmedical use of drugs that persists despite the presence or threat of physiologic or psychological harm, and indeed is a highly disruptive phenomena. Rare in otherwise well-adjusted individuals, exaggerated perceptions of its dangers causes a great many patients with legitimate pain to be mistrusted and undertreated. Unfortunately, when pain is ignored, most other aspects of healing (rest, mood, nutrition, energy and rehabilitation) also falter. Too often, we operate from the mistaken belief that simple exposure to painkillers produces addiction, while in fact addiction appears to be much more person- and style-specific than substance-specific. Predisposition to addiction has much more to do with an individual's style of coping with adversity, stress and illness. Addicts are less functional as a result of


their drug use and become more isolated from the mainstream of life, family and work, while patients using drugs appropriately are consequently more functional, less isolated, and more prone to resuming activities they once avoided because of pain. In the course of twenty years of educating physicians and nurses, patients and their families, administrators and policymakers and other interested parties about pain management, the topic of addiction never fails to elicit great interest. As a means to convey my thinking about this complex issue and especially the thorny distinction between addiction and the treatment of painful medical disorders with drugs, I created and have come to rely on a vignette that, by employing an analogy focuses our attention in a way that may help us think more clearly about issues that appear bewilderingly complex but are perhaps more simple than they appear to be. So..heaven forbid, your teenage child or grandchild "borrows" the key to the family car, say a Ford Taurus, goes on to drink a six pack of beer and then wraps said car around a tree. Fortunate enough to walk away from the event, employing another example of adolescent logic, he/she draws the following conclusion: "Ford Taurus* are bad cars." The obvious corollary is that drugs, in and of themselves are neither "good" nor "bad," although their use can produce dramatically opposed good or bad outcomes depending on how they are prescribed, dispensed and taken ("driven," if you will). Our culture strives to ascribe pat answers to complex phenomenon, and thus arises the oversimplistic temptation to denounce a substance as being responsible for a behavioral problem, because it is often easier than looking honestly at our own maladaptive behaviors. As we have come to recognize the dangers of alcohol and tobacco, it becomes clear that the problem of addiction transcends the domain of illicit drugs, and viewed from an even broader perspective we have come to recognize the hazards of addictions to activities as diverse as gambling, risk-taking and sex. The recent media feeding frenzy condemning a newer opioid compound, Oxycontin is a prototypic example of how unless such hysteria can be curbed many of the advances that have been made on the behalf of patients with chronic pain can be summarily annihilated. Oxycontin is simply a preparation of an opioid drug that is slowly released over twelve hours to promote even relief without the roller coaster effects and the clock-watching associated with short-acting painkillers. The recognition by abusers that this when crushed, chewed, sniffed or injected, the safety of this miraculous "tiny time pill" could be bypassed led major news organs to irresponsibly capitalize on the sensationalist aspects of this criminal misuse of a product that used properly has helped countless sufferers. This irresponsible journalism has not only disseminated an otherwise obscure strategy of abuse in the minds of susceptible addicts, but has terrified patients who have been benefitting from an otherwise appropriate treatment for years, and has frightened prescribing physicians and pharmacist who are now reluctant to dispense an otherwise very helpful drug. Just like a truly resourceful burglar will find a way to circumvent even the most stringent security system, an addict who is truly intent on abusing drugs will find a mechanism to abuse almost anything. The bottom line message is not to throw out the baby with the bathwater: the answer to curbing addiction to prescription drugs is not to limit their availability, but to teach doctors, patients and pharmacists to communicate more effectively about a problem that is distressing to all of us.


Patients should be aware that while the risk of addiction is exaggerated by even (well meaning) experts, it still exists. Addiction may arise in between 0.1-10% of patients, but it is a treatable disorder, and shouldn't interfere with the consideration of trials of opioids in patients with lower risk profiles. Individuals who have had difficulties with drugs, alcohol and tobacco in the past are at high risk for addiction and are generally considered poor candidates for treatment. Patients in denial who expect a "quick fix" and wish to eliminate rather than manage pain are also likely to encounter difficulties with treatment. Medical Use of Opioids Appears not to Promote Drug Diversion A recent article in the Journal of the American Medical Association (Joranson DE, Ryan KM, Gilson AM, Dahl JL: Trends in medical use and abuse of opioid analgesics. JAMA 2000 Apr 5;283(13):1710-4) sheds some light on the use versus abuse issue. These investigators reviewed multiple databases between about 1990-1996. They found that the prescribing of strong opioids increased by 59%, 1168%, 23%, and 19% for morphine, fentanyl, oxycodone and hydromorphone, respectively. Only the medical use of meperidine (Demerol fell (by 35%), which is a good thing, since of all the opioids, Demerol is probably the least safe for chronic use because it occasionally produces seizures. Despite this massive increase in prescribing (that has probably increased exponentially in the last four years), "drug abuse mentions" for these opioids rose by only drug (6.6%), and even more impressively, the proportion of mentions for opioid abuse relative to total drug abuse mentions decreased from 5.1% to 3.8%. This article supports the view that, like almost anything, opioids are abusable, but that with expert medical help, this is a very rare occurrence, and for years we've probably let a few rotten apples ruin things for the whole bushel. Special Prescriptions: A "Chilling" Effect on Doctor, Pharmacist and Patient The potent opioids are commonly used (like "mother's milk") to treat cancer pain, and we now understand that they can often be used safely and effectively for chronic pain. Unfortunately, at least in Texas, their use requires a special "triplicate" prescription that must be filled within seven days and that cannot be renewed or called in. Also, pharmacies are often reluctant to stock these medications because of extra paperwork and the fear of robbery, although this situation has improved dramatically in recent years. Most pharmacists now will happily order what patients need if given sufficient notice. Nevertheless, these multiple copy prescriptions have a chilling effect on doctors' prescribing habits, because of the sense that "big brother is watching." Some good news: due to the work of the Texas Pain Society, Dr. C. Stratton Hill, Jr. and other forward-thinking "activists," the situation in Texas is very reasonable. We were the first state to pass an "Intractable Pain Act" that states that these medications are, in some cases, indispensable for the treatment of chronic pain and that neither patients nor their doctors should be fearful of punishment for their use, as long as that use follows the guidelines of good medical care. There has even been a legislative decision to abolish triplicate prescriptions in Texas, although it is uncertain how and when this will be accomplished.


Route of Administration (Pills and Patches preferred to "Shots") One of the biggest hurdles we've had to get over is the lurid media depiction of back alley injections and mainlining of drugs, which is a reflection of abuse, not appropriate medical treatment. The good news is that we have come to learn that injections are almost never necessary. Even the strong medications given by mouth or by a skin patch are just as effective as injections. Injections are still used around the time of surgery, in emergency rooms, hospice and when nausea prevents using pills, but almost never for the treatment of chronic pain. They simply are not needed: chronic pain, however unpleasant and distressing, is not an emergency, especially when treated proactively. Pain "Contracts" Increasingly, pain clinics are dealing with some of these issues more openly, and one approach includes a pain contract. While not necessarily a true legal document, this approach simply spells out what's expected of both parties, the patient and the doctor. The "contract" can be implied, verbal or written and often includes expectations like you will get all of your pain medications from a single doctor, will not "swap" them with others and will take them only as directed, but on the other hand, that if you hold up your end, your doctor will take your pain seriously and provide sufficient medications to get from visit-to-visit. The Bottom Line: Summing Up While opioids are helpful in some cases, they don't reverse the cardinal features of chronic pain: patients continue to have daily pain with some good and some bad days. These drugs are not a panacea, but simply represent one of the many tools at our disposal to help make this dreadful disorder more tolerable. Moreover, opioids are usually not a first line treatment, and work best when integrated with other drug treatments like antidepressants, anti-inflammatories, muscle relaxants and anticonvulsants.

Physicians considering trials of opioids for the chronic pain should not view this therapy as a lifelong commitment: discussions with the patient and family members should identify functional treatment goals which will help determine whether treatment is successful and should be continued or whether medications should be tapered and stopped. While most patients want pain relief, often at nearly any cost, most experts agree that a mature and consistent approach to maintaining an active lifestyle is the most important answer for chronic pain. Thus, opioid therapy is best conducted based on whether patients are able to maintain increases in their functional status. Rather than relying on reports of more or less pain which cannot be substantiated, it is optimal to base treatment on objective outcomes around which the patient, family members and physician can agree on. Thus improved mood, nighttime sleep, daytime arousal, socialization, exercise tolerance, range of motion as documented in a regularly kept diary are the most useful goals for treatment.


Section Four

Reflex Sympathetic Dystrophy Syndrome An Overview

Contributor: Susan Wynn Reprinted from The MHE Coalition Newsletter No. 9, March 1, 2002

Chapter Four Section Four 1

REFLEX SYMPATHETIC DYSTROPHY SYNDROME An Overview by Susan Wynn

Reprinted from The MHE Coalition Newsletter No. 9, March 1, 2002

Reflex Sympathetic Dystrophy Syndrome ("RSD") is a rare, multi-symptom nerve disorder characterized by chronic, severe pain. It is a disorder of the sympathetic nervous system, which regulates involuntary bodily functions such as increasing heart rate, constricting blood vessels and increasing blood pressure. It is a unique disorder, in that it simultaneously affects nerves, skin, muscle, blood vessels and bones, and it can co-exist with such other conditions as peripheral neuropathies, nerve-entrapment, and carpal or tarsal tunnel syndrome. So why feature information about RSD in a newsletter for patients with Multiple Hereditary Exostoses? When my daughter was diagnosed with RSD in 1999, we thought that hers was a rare, isolated case. Nicole suffered tremendously, and it was a difficult time for our entire family. As her condition improved, we were happy to forget about this experience, and were able to put it behind us until Melanie Barousse posted a plea for help on YahooGroups a year ago. The symptoms that she described were so like what Nicole had been through that the memories of that terrible time came flooding back. I called Melanie immediately to let her know what Nicole had been through, and that they might want to present the possibility of RSD to Jake's doctors. Besides Nicole and Jake, there are three other children and one adult in MHE YahooGroups that we know have been diagnosed with this "very rare" condition during a 2-1/2 year period. While we are not aware of any studies that indicate MHE patients are at a higher risk for developing RSD, we do believe that at very least, the possibility for more cases exists. Perhaps because of the number of surgeries MHE patients go through, or the nature of the surgeries, or the nature of the disease itself, with compression of nerves by exostoses being a fairly common occurrence, we feel that people should at least be aware of RSD. This article is not meant to alarm, but merely to inform. Because early treatment is an important factor in RSD, we are presenting this overview of the causes, symptoms and treatments. If you believe that you or someone in your family may have RSD, please see your doctor for diagnosis and treatment as soon as possible. What are some of the causes of RSD? While the causes of RSD are not fully understood, it is believed that RSD is associated with injury to nerves including: Trauma (even minor injuries, such as a sprain or a fall, can cause RSD); surgery; compression that could cause prolonged pressure on peripheral nerves, such as casting, or swelling due to injury or surgery; heart attack; infection; radiation therapy What are the symptoms of RSD? Symptoms and severity may vary from patient to patient and may include the following: Severe, burning pain; muscle spasms; local swelling; softening of the bones; rapid hair and nail growth; restricted or painful mobility; warm, shiny red skin that later becomes cool and "bluish"; and pain out of proportion to the severity of the injury. One of the main characteristics of this disorder is that the pain experienced by the patient is more


severe than expected for the type of injury incurred, and that the pain gets worse instead of better. RSD can begin immediately after the injury, or later. Other symptoms may include increased reflexes, tremors, muscle spasms, fatigue, weakness, skin rashes, frequent infections, and more. What does it feel like to have RSD? We asked the RSD patients in our organization (or their parents) to describe the experience:

Nicole: "What was it like having RSD? Well, at first I thought it was normal but it hurt a lot. It hurt whenever someone touched it. It felt like acid was dripping through their fingers and onto my leg. When I got home it hurt almost all the time. And when I had to walk with the walker, even though no one was touching it, it hurt even more. It felt like a match was lit and someone put it on my leg. The physical therapy helped make it better, but I left there crying from pain everyday. At home I had to do desensitizing exercises. At first I had to put my foot in a bucket of dry rice. I never knew how sharp and pointy rice could be. It hurt but then we moved on to a bucket full of sand. That was much better and after I was done exercising I made little sandcastles. My foot was blue for a while and still hurt but the pain decreased after a couple of months. Now I am feeling much better."

Jake: "After surgery, when we got home the pain started getting worse. It was rrrrrrreally painful! The wind from somebody passing by it and any covering touching it was like somebody taking a pick and stabbing me in that place, but whenever I moved the ankle, it didn't hurt it. When my mom started rubbing lotion on it, even lightly, it felt worse than ever! It felt like an axe instead of a pick and it was bad! Water didn't hurt it, but the washcloth made it hurt like the pick. After a few days of the rubbing and the medicine, it got better. Then the spray really helped. Now it only feels like someone touching it with a spoon. It's not a pain, just a feeling now."

Alida: "I am 39 and have had 27 surgeries related to MHE and removing the exostoses. I never had many problems after surgeries until last year. I had about five exostoses removed from my left knee. The nerves were wrapped around the exostoses. It was not right after surgery that all the problems started, but a few weeks later. I was still using the wheelchair. I had gotten the stitches out and went to take a shower. The water hit my knee and I almost fell to the ground, it hurt so bad. It was so bad that I could not stand anything to touch my knee. I was sent for an EMG. I kicked the guy that was poking my leg, and passed out. It was then that they realized how much pain I was in. Even when the sheets touched it, I would almost pass out in pain. I finally got in to see Dr. Patt, a very good pain doctor. He treats mostly patients with cancer, so he knows about pain. He has helped so much with medicine and desensitizing it with rice bags and other things being rubbed on it. I can stand to be touched there now without such pain. It still hurts, and I'm just getting used to wearing pants on it. So we are learning more and more about it and it makes it easier to deal with."

Robert: "It's a burning, icy, metal pain, and it feels like acid coming out of my foot. It also feels like when you hit your funny bone…"


Brandon: "I had surgery on November 23, 2000. I had surgery because there was a bone in my leg that was making my right foot have a big arch. It also made my foot weaker. Something that happened after the surgery was my leg was very touchy and it hurt sometimes when someone touches it. I never like it being touched because it tickles and feels very odd now. I don't like how it feels. It's like feeling something that is fuzzy, rough, and gentle at the same time. I'm supposed to have my mom or dad rub it but I don't like the idea. But it is alright now."

Linda: "Johan Olav got RSD after a surgery in September last year. The first day after surgery was "normal" but already the 2nd day I understood something wasn't right. He had severe pain and heavy cramps, his leg was shaking and was "out" of control. We couldn't touch him or the bed, just small things would trigger the "attacks". I've never seen him in such pain ever before or later, and he has had surgeries both before and after this one. He was really sick for a week or so and then it sort of settled. But the recovery was slow and he still had lots of pain. After 3-4 weeks it took a turn to the worse and he couldn't take it if we touched his leg between the knee and ankle. It seems that soft, gentle touch is worse than firm and things like getting dressed or having something close to the leg is troublesome. His PT worked with him for a couple of weeks, but we could see none or little change. It's more difficult for me to work with it, cause he won't let me. I think he's a bit better now, but he still wakes up if I touch it when he's asleep and he won't let me come near it. Sometimes the pain can just come while he's not doing "anything" and then it looks like he gets cramps and he says it burns."

How is RSD Diagnosed? The diagnosis is often made through observation of symptoms and based on a thorough history. Other diagnostic tests that may be used include thermography and nerve conduction studies. Other tests may be used, as required. How is RSD Treated? There are many forms and combinations of treatment. What works for one patient may not work for another. A variety of drugs, including Neurontin, are used to treat RSD. Corticosteroids, vasodilators, and alpha- or beta-adrenergic-blocking compounds are among the types of drugs that may be used. Injection of a local anesthetic may also be used, and a prescription spray, Guanethedine, has been shown to be effective in some cases. Other treatments include: Physical therapy, desensitization of the affected area, Transcutaneous Electrical Stimulation (TENS), Nerve Blocks, psychological support, and in some severe cases, sympathectomy may be required to relieve pain. In this surgical procedure, cutting the nerve or nerves and interrupting the affected portion of the sympathetic nervous system destroys the pain almost instantly, but it may destroy other sensations as well.


RSD RESOURCES RSDS Association 16 Haddon Avenue, Suite D Haddonfield, NJ 08033 865-795-8845 http://www.rsds.org RSD Coalition 295 Clark Street, Suite 303 Worcester, MA 01606 508-852-0525 http://www.rsdcoalition.com American Pain Foundation 201 N. Charles St., Suite 710 Baltimore, MD 21201-4111 1-888-615-PAIN http://www.painfoundation.org National Institute of Neurological Disorders and Stroke NIH Neurological Institute P.O. Box 5801, Bethesda, MD 20824 1-800-352-9424 www.ninds.nih.gov/health_and_medical/pubs/rsds_fact_sheet.htm RSDSA of CA P.O. Box 771 San Marcos, CA 92079-0771 760-744-3266 http://www.rsdsa-ca.org American Chronic Pain Association P.O. Box 850 Rocklin, CA 95677 916-632-0922 http://www.theacpa.org

http://www.rsds.org/

http://www.rsdcoalition.com/

http://www.painfoundation.org/

http://www.ninds.nih.gov/health_and_medical/pubs/rsds_fact_sheet.htm

http://www.rsdsa-ca.org/

http://www.theacpa.org/

Chapter Five: MHE and Children

Section One

The Bumpy Bone Survival Guide

Contributor: Reprinted from MHE and Me – A Support Group for Kids With Multiple Hereditary Exostoses and Their Families

4

The Bumpy Bone Club Survi

Tools for kids to use with theirdoctors and schools

Created and published by:

MHE and Me - A Support Group for

with Multiple Hereditary Exostoses and Th14 Stony Brook Drive, Pine Island, NY 1

845-258-6058, [email protected], www.m

The MHE Coalition, 8838 Holly Lane, Olmsted F440-235-6325, [email protected], www.mhec

Revised October 2005

We are happy to share these tools with other groupMHE and Me and The MHE Coalition when adapting

use by your group.

Chapter Five 1

Nicole Wynn, 1

val Guide

families,

Kids eir Families 0969, heandme.com

alls, OH 44138 oalition.com

s. Please credit the enclosed for

Section One

The Bumpy Bone Tracker

Appointment Date:________________________ Time:_______________________ Doctor:______________________________________________________________ Concerns to Discuss:___________________________________________________ ___________________________________________________________________ Examination Notes:____________________________________________________ X-rays Taken:________________________________________________________ Recommended Treatment:______________________________________________ ___________________________________________________________________ Next Appointment:____________________________________________________

To keep track of bumps, it can be helpful to use a color-coded system using tiny stickers or markers, with one color for bumps that you’ve known about, one color for areas that have been operated on, and one color for new bumps that you’ve become aware of since the last examination, bumps that have been

causing pain, or other problems that you’ve noticed. This will help you and your child keep track, and will give the physician an instant overview of things to look for.

Chapter Five Section One 2


The Bumpy Bone Pain Tracker

There are many ways to use the Pain Tracker. Using colored markers, draw a line from the picture to a line below and write down all the words that describe the at part of your body.

se a different color for each part that is hurting you. Older children nd teens may want to simply list the name of each bone and pain escriptions below. Use your creativity and find the way that best uits your child. For younger children, please see the following page. or all ages, see the pain diary.

_______________________________________________________

_______________________________________________________

_______________________________________________________

Here are some words that can help describe how it feels when you hurt. Use these or your own words.

ching Bad Spreading Sore hrobbing Pounding Horrible Punishing hooting Pins and Biting Lonely tabbing Needles Cold Sickening harp Deep Warm Pinching urning Stinging Miserable Lonely

pain you are feeling in thUadsF _ _ _

ATSSSB



The Bumpy Bone Pain Tracker For Little Kids!

www.mheandme.com

HOW DO YOU FEEL?

Put a mark on the line that shows how you feel. If you don’t have any pain, put a mark near the happy face. If you’re hurting, put a mark

near the sad face. If you hurt a little, put a mark in the middle.

Where Does it Hurt? Illustrated by Nicole Wynn, 14

Let your child color in each of the squares below in a different color. Explaining what each color means, let him or her then color in the

drawings to show how each part of the body feels.

Pain Diary


This diary can be kept by parents and/or child. Make additional copies as needed, or print from the MHE and Me website www.mheandme.com Where was the pain? ain Tracker and show where the pain is on the pictu , or describe the location here).

__ _______________________________________________________

Was any treatment tried? Describe: ________________ ______________ _ Did How long did the pain last? __________________________________ For young children, what was the child’s behavior like during this episode of pain (crying, withdrawn, cranky, etc.): ___________ ________________________________________________________ Additional comments or notes:________________________________ ________________________________________________________

(You can attach a copy of the Pre

_____________________________________________________

When did the pain start? ___________________________________ Activity when the pain started (Sleeping, running, walking, sitting, climbing stairs, playing a sport, etc.):_________________________ _______________________________________________________ How bad was the pain on a scale of 1 to 5, with 5 being the worst?___ Describe the pain (You might want to see if some of the words listed on the Pain Tracker describe your pain)_________________________ ________________________________________________________

(Medication, heat, ice, rest, etc)__________________________

_______________________________________________________

it help?_______________________________________________


Section Two

The MHE and Me Handbook A Guide for Family, Friends,

Teachers and Classmates


Chapter Five Section Two 1

THE MHE and Me Handbook A Guide for Family, Friends,

Teachers, and Classmates

DISCLAIMER: While many find the information and experiences that we share helpful, it is in no way a substitute for professional medical care. Our support network does not engage in the practice of medicine. In all cases, we recommend that you consult your own physician regarding any course of treatment or medicine. WHAT IS MHE? Multiple Hereditary Exostoses (MHE) is an inherited disorder of bone growth. People who have MHE grow exostoses or bony bumps on their bones that can vary in size, location and number depending on the individual. Although any bone can be affected, the long bones: legs, arms, fingers, toes, ribs; pelvis and shoulder blades are the most common. MHE can be referred to by various names such as Heredity Multiple Exostoses, Hereditary Multiple Osteochondromata, Multiple Cartilaginous Exostoses, etc. An exostosis is a benign bone growth that is abnormal or different than the underlying architecture of the bone. These bone growths generally grow out or at an angle from the normal bone. Sometimes doctors refer to exostoses as "tumors" which like "exostoses" is a general term meaning abnormal growth. It is important to remember that not all tumors are cancer. Most tumors like the exostoses of MHE are benign. Exostoses grow near the growth centers of the bones which are near the ends of the bones. That is why many bumps grow near joints. Exostoses can be rounded or sharp and will continue to grow while a child is growing. This condition is not contagious. MHE is a condition that is passed by the genes of the affected parents to their children. It is called an "autosomal dominant" disorder which means that if one parent has the condition, chances are fifty percent that their child could also develop MHE. Occasionally, a person can develop multiple exostoses with no family history of MHE. This situation is described as a spontaneous mutation meaning a genetic problem arose in that person without being inherited from a parent. HOW ARE CHILDREN AFFECTED BY MHE? Some children will have few if any symptoms while others are severely affected and will have a great deal of difficulty. Because the bone growths can cluster around joints, children with MHE can have a great deal of difficulty with normal movements such as walking, running, lifting, carrying, bending joints, kneeling, grasping and arm and leg rotation. Tumors can grow and increase at any time, but particularly during growth spurts. A child who has no problem with a movement one day may find that movement restricted the next and then back to not being a problem the day after that. A tumor may also grow in such a way as to create an entirely new restriction on a child's mobility. For example, a child who was able to sit in a certain position during the last semester may not be able to sit in that same position this semester, or in the future. A child who could run may not be able to do so following tumor growth. Some mobility problems may be corrected by surgery, but some may become lifelong limitations. Parents as well as teachers working with children with MHE must be aware of the changing nature of this disorder.


While children with MHE may seem extremely fidgety, they may be simply trying to get comfortable. Many tumors cannot be seen and their affects can be subtle. One child with MHE may have multiple tumors at many different sites in the body, while another child may have only one or two tumors. No one yet understands why different people are affected differently at different parts of their body. Hands Hand and arm problems can present unique challenges. MHE children may have problems manipulating small objects. For the younger child this may mean difficulty buttoning, zipping, and tying; skills which children need to dress themselves. Older children and adults with MHE can also have trouble with these skills. An MHE child in preschool or kindergarten may need help with these tasks, leading observers to feel that the child has not yet met developmental guidelines for self care. Caregivers need to understand what the child is physically capable of and help them compensate. For children who cannot get their fingers to work correctly to tie shoes, velcro has been found to be a wonderful adjunct that helps MHE kids with independence. Most MHE kids learn to compensate and do things in their own unique way while still accomplishing the goals of independence. For the older child entering primary school the challenges can be daunting. Holding a pen, pencil or crayon may cause discomfort and pain.

"Nicole (10) has many, many bumps on her fingers and they get stiff and hurt where the pencil or pen rubs against them. We recently found foam rubber pencil grips that cushion. We also found special pens and automatic pencils that are large and cushioned. These do help but when she has a lot of homework her hands hurt and she becomes quite fatigued."

Even when a child can hold a pencil and appears to be doing fine other problems can arise:

"Julianne (age 10) has trouble with pain in her wrist and the teachers just don't understand. They keep giving her more handwriting homework as if she just needs to practice more. She uses little cushions and thumb pillows; that is all we were able to change. She just will not be able to get an "A" in handwriting. But she tries hard and that is what counts!"

But even with cushions and special pens and pencils these children have severe problems writing for long periods of time.

"Bobby (8) has trouble gripping a pencil. He is in third grade and there has been a huge increase in writing. After much discussion with school staff, the school district has provided him with an Alpha Smart Keyboard. It is quite small, displays several lines of text and has a memory. He takes it everywhere with him and can complete writing assignments on it that can be printed out either at home or in the classroom."

For other children the problem may be more subtle: "Christopher (13) cannot grip a pen or pencil properly and his handwriting is atrocious. His teachers constantly complain that they cannot read his writing."


Needless to say, these kind of problems can lead to difficulties handling and manipulating other common objects in the school environment: scissors, chalk, glue sticks, paper clips, rubber bands, and the myriad of other small manipulatives that young children use in the classroom. Arms There are two bones in the forearm, the ulna and the radius. The radius extends from the wrist on the thumb side of the arm while the ulna is on the little finger side of the arm. In many kids with MHE the growth of the ulna is affected and it is quite shorter than the radius. This can cause the radius to "bow", pushing the hand to "cock" at an angle. This can cause severe wrist problems. Some kids with MHE cannot supinate or pronate their hand because of lack of rotation in the wrist. They will compensate by turning their whole arm from the shoulder, bending their elbow into the body to achieve supination and moving the whole arm in the other direction to achieve pronation. In the classroom, the child may be asked to do things they simply can't. For instance, at circle time when all the children join hands, the child with MHE may not be able to comfortably turn his hand to hold the hand of the child next to him. The child and his parents may not even have been aware of this problem with mobility. Exostoses around the shoulders can prevent the child with MHE from rotating their shoulders: throwing a ball, playing windmills, playing airplane. An exostoses can affect, limit, or even totally block movement. Also, straps from backpacks can rub against exostoses causing discomfort and pain. Trying to hold heavy books can also be a problem for the MHE child. It may be necessary for a child to be provided an extra set of books at home so that the daily burden won't be too great.

Kate (26) "I could never swim freestyle/overarm; only breaststroke. In Australia, you learn to swim at primary school. My shoulder wouldn't ever rotate enough to swim overarm even after surgery. I can't swim very well because my arms are very different lengths and have very different strengths and I swim in circles."

Ankles and Feet The foot has many, many bones and most of these are considered "long" bones and subject to the development of exostoses. When an exostosis forms and grows it can affect the length of the bone, shortening it considerably. Children with MHE can have pretty strange looking feet: bumpy, lumpy feet with minimal or even nonexistent toe nails. Like the fingers, toes can be longer or shorter than normal even on one foot. The big toe can be longer than usual while the toe right next to it can be shorter than normal.

Ellen (16) ";I have really strange feet - toes completely out of order, and they make footprints with three toes only. So that was thought of as strange but in an "aren't-you-lucky" kind of way."

Pain and discomfort walking, as well as an uneven gait may be caused by valgus deformity. This condition is caused by bone growths around the tibia or fibula, which cause the ankle to bend outward.

Melissa (15} "One of the things that bothers me a lot is my ankles. I cannot stand it if anything touches them, like shoes or heavy socks, or even when I go to sleep. It bothers me when I lay down and they touch the bed."


MHE kids may be unable to stand on tiptoe. Bone growths in the metatarsals can push the toes to the side causing the big toe and the other toes to form an angle pointing to the outside of the foot called hallux deformity. Hallux is the great toe. Legs Uneven growth caused by exostoses can cause the fibula or tibia to be shorter. This can cause the other bone to bow out. To even out the bones' growth an external fixator can be surgically attached, which over a period of months causes the bone to lengthen. Some children may be candidates for this surgery, while other children may qualify for a procedure wherein staples are surgically inserted into the growth plate at the end of the longer bone to slow its growth and give the shorter bone a chance to "catch up"

Lydia (17) "My legs give me the most trouble and sometimes it feels like there is constant pain, the sort of pain that I can live with or I just got so used to it. I think they hurt more when I sit all day. A little walking actually helps and it feels like I can "walk" away some of the pain."

Surgery that is meant to offer a solution to a problem can have its own complications: "Nicole (10) had surgery over summer vacation: stapling of the proximal tibia (near the knee) and removal of a large exostosis just below that. Three months later she had to have surgery on the same leg to remove three exostoses from the fibula which were compressing a nerve and had caused a nerve palsy resulting in drop foot. Drop foot is the inability to move the foot. Nicole is being tutored at home while she recovers and undergoes extensive physical therapy to relearn how to walk."

Knees Bone growths around the knees can cause limited flexibility or even inability to bend the knee and can cause the child to be unable to kneel because of pain. Bone growths frequently make the knees appear bulky and larger then normal. Many kids with MHE cannot sit on the floor cross-legged not only because of bone growths around the knees but also bone growths around the hips and pelvis.

Gil (53) "I can't get into a crouch, you know like catchers do. I have never been able to crouch. My knees only bend about 40 degrees. My knees used to give me a lot of pain when I was a kid but once I got older they only hurt occasionally."

Hips and Pelvis As mentioned above, growths around the hips and pelvis can make it impossible for a child to sit cross-legged on the floor but these can also cause other mobility problems.

"Susie (age 11) has trouble with stairs. She cannot get her leg into the proper position to climb to he next step. She must take each stair one step at a time. She steps up with her right leg and then brings the left one up. Her left leg is more severely affected due to tumors on her hip and pelvis. She also has a bone growth above her knee and in the back of her leg that prohibits her bending that leg very much. She climbs the stairs at an angle."

Hip and pelvic tumors can prevent a child from bending over, touching their toes or spreading their legs.


Ribs Exostoses can form on the inside of ribs or the outside.

Roger (21) "They can catch on the muscles in your chest, which can make it really painful to even breathe. It is possible to uncatch them - to basically shove your chest muscles back to the other side of the offending lump and this takes away the pain."

Skull, Neck and Spine Although bone growths of the skull, spine and neck are extremely rare they can occur. THE MHE CHILD IN SCHOOL Because the affects of MHE can be so varied from child to child it is important to keep the school apprised of any changes. Before the child is enrolled in school, write the school and let them know that your child has a disability and what mobility limitations or pain problems your child may be having. If you notice a new limitation, write the school and let staff and teachers know exactly what it is and what affect it may have on your child's participation. If the situation over the summer break changes, for instance a surgery or new limitation is noted, write the school and let them know. At the beginning of every new school year, a letter explaining MHE directed to staff and teachers would help refresh the school's memory that your child has special needs. THE MHE CHILD AND PE CLASS This is an extremely difficult area because MHE children can be affected in so many various ways and in so many different body parts. On top of this, children with MHE may be able to do a certain motion one day and find that same motion constricted or painful the next. Most MHE children can participate in physical education but the instructor is going to have to be not only aware that the child has special needs but also sensitive to the changing status of the MHE child. A child who says they cannot do a particular motion or function should be respected. If there is any doubt about the veracity of such statements, parents or guardians can be contacted for verification. Children with MHE should not be encouraged to "just try" something they have said they cannot do. Some MHE kids appear "normal", while other children will have obvious deformities. Some children with MHE may reach the point where they are unable to participate in physical education classes for extended periods of time; some may not be able to participate at all. This may be due to the need for surgery to relieve an obstruction or simply because the movements necessary for physical education class are impossible or cause too much pain. Even after surgery to relieve an obstruction caused by a bone growth, the child may never be capable of full mobility. All children want to "fit in" and be treated the same as the other kids. Children unable to participate in sports should not be looked down upon or made fun of. They should also be encouraged to use that class time for a productive activity, such as library time, etc. Many children with MHE have physical therapy exercises they can do during this time.


FATIGUE MHE kids can tire easily. Exostoses can put significant pressure on vital structures, making it necessary for the child to stop all physical activity for periods of time. A child may be dealing with a lot of mobility issues and be in pain. Pain in and of itself can be exhausting. Some MHE kids and adults note a significant increase in pain during wet and cold seasons. In addition, many children suffer from night pain and discomfort severe enough to interfere with their sleep. The performance of these children in school the next day will obviously be affected by their lack of sleep and their physical discomfort. When fatigue becomes a major problem, a child with MHE may have to go to half days or have a tutor come to the home to continue schooling.

"Andrea (8) suffers from over-all fatigue. By the end of her school day I have to meet her at the bus and carry her backpack, and she holds on to my arm to help "pull" her up the road to our house. She takes breaks when she needs them but sometimes other kids, including her sister, just can't understand that she can't keep up with them and has to rest."

DISABILITY Section 504 of the Americans with Disabilities Act is not an education law but a civil rights law that prohibits discrimination on the basis of a disability. The intent is to meet the needs of disabled students in the least restrictive environment possible. Section 504 finds a person as having a disability if the person: 1. Has a physical or mental impairment which substantially limits a major life activity; 2. Has had a physical or mental impairment which substantially limits a major life activity, or 3. Has had a physical or mental impairment which substantially limits a major life

activity, or is regarded as having a disability by others.

Section 504 requires the provision of a free and appropriate public education (FAPE). School districts that receive federal funds are required to establish procedures for the evaluation and placement of students with disabilities who require either special education or related services. Major life activities include walking, seeing, hearing, speaking, breathing, learning, working, caring for oneself and performing manual tasks. The disability need only substantially limit one major activity in order for the student to be eligible. MHE AND PAIN MANAGEMENT Simple Analgesics In MHE there are primarily two different kinds of pain: the sharp pain of having a bone growth bumped, hit, or knocked and an achy pain and discomfort that can be mild or severe and that can last for minutes, hours, days or weeks. Any pain that is not relieved with pain medications, impinges movement, or recurs should be checked by a doctor. Dosages of various pain medications can be tailored to the needs of the patient, but your doctor should again determine this. Acetaminophen has the potential to be toxic but larger doses than is normally recommended can be prescribed by your doctor to help with pain management. Always consult with your doctor before changing dosages, combining medications or starting a new pain medication.


Normal recommended dosages of pain medications like Acetaminophen (Tylenol) and Ibuprofen (Motrin, Advil, etc.) can be very helpful in pain management but can lose their effectiveness over long periods. Your physician can prescribe stronger dosages to help recalcitrant pain. Never increase the dose of a pain medication unless under the advice of your doctor. Acetaminophen can be dangerous and toxic in too large a dose. Aspirin is never recommended in children. MHE can cause long term, recurring pain. Some have found a dose of pain medication used as a prophylactic at night can help with sleep problems due to pain. This is a very individual decision as the use of long term pain medications have complicated implications and any use of long term pain medication should be under the supervision of your doctor. Heat Providing Devices For simple episodic pain many have found heat to be an immense relief. Electric heating pads, hot water bottles, gel packs and fabric bags with organic husks can all be useful. Heating pads can be dangerous for those who get pain in the night and fall asleep. There is the danger that the heating pad can overheat and burn if it is left on unattended, kinked or rolled over on. Hot water bottles are old fashioned but much safer. They do not get hotter but gradually cool down. Gel Packs and husk bags can be quickly heated in the microwave and also gradually cool down. Organic husk bags come in many shapes and sizes and many can be wrapped around the painful area providing great ease and comfort. Uncooked rice can be sewn into a fabric bag of any desired shape or size and warmed in the oven or microwave. It can then be placed on or wrapped around the painful area. For a child with pain in the night these are much safer alternatives then a heating pad and can help to speed everyone back to sleep. Night pain is common in children with MHE because the distraction of daytime and daytime activities can mask pain until the child calms and tries to sleep; then they feel the pain. Pads and cushions on chairs can help relieve discomfort sitting and a feather bed can cushion bumpy bones that are difficult to sleep on. During the day at home, warm baths, hot tubs, warm showers can ease mild pains. Pain at School The use of pain medication at school can become complicated and controversial. Again, some parents opt for the use of a pain medication as a prophylactic to try to prevent pain while the child is in school. Many parents feel this much use of pain medication is not warranted and can be dangerous. Children with MHE can have a private place at school where they can rest, take pain medication if warranted, use a source of warmth to ease pain and then return to class when they feel better. Many school districts insist that pain medication be kept in the office under the supervision of a nurse or secretary. This is not always feasible. A parent reports:

"I asked that my third grade son have his pain medication available in the classroom to be administered on an as needed basis for pain by his teacher. I was told no, that medications had to be in the office. Well, one day when my son asked to go to the office to get pain medication the teacher told him to wait until the spelling test was over. By the time he was allowed to go to the office, the pain had escalated. The classroom was in a bungalow and he had to cross the playground to get to the office. He didn't make it. Something called me to his school that day and I found him lying in the rain against a wall in too much pain to walk. He was soaking wet and crying; not only in severe pain but extremely


frightened. I really don't know what would have happened if I had not listened to my instincts and gone to check on him that day. Since then I have absolutely insisted that his pain medication be available to him in his classroom. Sometimes it has been quite a fight but when I tell them this story they understand and make an exception."

Sometimes, simply asking the school to make accommodations works. Schools seem much better prepared for scheduled doses of medication like antibiotics. The "as needed" basis of pain medication can make school staff very nervous; and rightly so. If the child has pain in the morning and the parent medicates and three hours later the child has more pain it is not appropriate for more medication. A simple form can be designed that travels with the child and contains dosing information. That way neither school staff nor parents have to worry that the child is being "double dosed." Younger children present some unique problems.

When my son was in kindergarten, his teacher noticed a pattern of behavior and expressed her concern to me. My son would get very quiet and withdrawn and then would act out by being mean and sometimes actually hitting other children. This was quite contrary to his normal behavior. We were able to identify this as pain onset. He would not tell the teacher he was in pain because he did not want to stand out and be different so he would ignore the pain until it was quite bad. The teacher learned to recognize this behavior and would take him aside, ask if he was in pain and quietly and privately give him pain medication and a quiet place to rest until the medication took effect. Eventually, he was at ease and was able to simply go and ask her for his pain medicine."

Young children in pain can be angry and aggressive or can regress and mimic younger children's comfort behaviors: thumb sucking, rocking and other self-comforting strategies. A perceptive, sympathetic teacher can intervene, minimizing disruption and stress in the classroom. Non-traditional Pain Alleviation Primarily in this category would be acupuncture, acupressure and chiropractic. Many traditional doctors have become knowledgeable about these alternative modalities. Results have been very mixed with some reporting a great benefit and others reporting little or no benefit. Stress can aggravate pain. A child in a classroom where everyone knows and understands his medical condition may experience less stress and therefore a reduction in pain. New Research In the past few years, pain management has become its own subspecialty in medicine and there is more of an emphasis on research and the development of new pain medications. In the past, intractable pain was unfortunate but not much could be done to alleviate it without the use of narcotics. New philosophies regarding pain management and new medications for pain are being developed all the time. Celebrex has been shown to be an effective pain alleviator but is not appropriate for young children and can have distressing side affects. Another new improvement in pain management is the recent discovery that low doses of antidepressants can alleviate pain. Again, your own doctor is your best source of information on new developments in pain management.


There are many options available and working closely with your doctor is critical in alleviating serious or chronic pain. At different ages, at various times, and even during different seasons of the year, different strategies can be used, combined or discontinued. When one thing stops working move on to try another; you can even go back to try something that worked in the past. Pain can be managed and alleviated. There is no reason for children to suffer unnecessarily. ORTHOTICS Most children with MHE will need some form of medical treatment at some time. Some children with MHE will need orthotics: braces, splints, supports, casts, walkers, crutches. Not only can this type of equipment limit mobility but also it can be embarrassing to a child who wants nothing more then to not appear different.

"My son had to wear a cast on his left foot and ankle and had to wear a brace on his left wrist. He was constantly questioned as to why he had to wear these but he was also teased by classmates that he had been in a car accident and only been hit on his left side. After a couple of days of teasing he did not want to wear the brace (although he needed it) and insisted that the cast be removed early (it couldn't be)."

The teacher could simply explain to the class, with the child and parent's permission, that the child has a bone condition and that this type of equipment helps the child function. Once children understand the function of an orthotic they tend to move beyond fascination and confusion to simple acceptance. SURGERY Often the treatment will also be surgical and the child will be hospitalized. Some children with MHE will have numerous surgeries. Surgery is usually an extremely traumatic event for a child or even for an adult. Children may experience anxiety once they know that surgery will be scheduled. They may require pre-surgical tests that are frightening and/or painful, and they naturally fear the operation, pain, discomfort and scarring they will experience afterwards. They may miss a significant amount of school and will need helping catching up. Returning to school while still in some degree of pain, weakness and awkwardness can be quite challenging. Many children with MHE have to wait to have surgery until growth plates fuse (at fifteen or sixteen). If surgery is performed too soon, the exostoses can simply grow back. Consideration needs to be given to children in these situations. Understanding their needs, abilities and limitations must be looked at realistically to make it a smooth transition for all concerned. By law, schools are required to take responsibility for some of these needs. It is important for all concerned to discuss and plan a child's return to school after surgery and to realistically schedule make up work. Again, a simple explanation to teachers and classmates of what the child has been through and why will help alleviate anxiety for everyone. Before and after surgery, the child can be provided with a tutor to help stay as current as possible with schoolwork and to help the transition back to the classroom when it is deemed appropriate. The provision of a tutor is something your school district should provide.

"In my school district they have a program called Home/Hospital for kids who have a serious illness, injury or surgery. The tutor comes to our home once a day for an hour and she has truly been a godsend. She talks to his teachers at school and picks up assignments and supervises his completing them. Every time he has


had to miss school for long periods because of pain or surgeries we have had the same tutor. It has really helped my son keep up in school."

EMOTIONAL ISSUES Self Esteem Children with MHE may grow up thinking they are the only children in the world who have this disorder. They may become very self-conscious about the appearance of their bumpy bones, bowed or shorter-than-average limbs, their inability to walk or run or perform other sports related activities in the same manner as their peers. As children grow older, they become more and more aware that they are somehow different. Some children may stop wearing shorts or short sleeved shirts, in an attempt to hide the physical signs of MHE. Most of us are more comfortable with what we understand. Many parents have reported that a short teaching component on MHE piggybacked with another study area, for example, the skeleton helps everyone understand MHE and feel more comfortable, including the child who has MHE.

"My daughter would never allow anyone to know she had MHE. She was too afraid of being different and of being made fun of. By the time she reached the fourth grade her symptoms became too severe to ignore and the school personnel had to be notified. She required individual counseling by the school psychologist to deal with her feelings of insecurity and low self-esteem, and to deal with anxieties over her first surgery, which would take place during summer vacation. As she needed more and more "special" treatment (she had to sit on a chair instead of the floor, and be excused from many activities in gym) her classmates needed to be told about MHE. She was amazed that no one made fun of her. In fact some of her friends were jealous that she got to sit on a chair during assemblies, while they had to sit on the floor! A weight was lifted from her shoulders when she stopped feeling that she had to keep her disorder a secret." "I once asked my son what bothered him most about his bumpy bones and he said, 'Nobody else has them.'"

Some children can become angry or depressed: "I am just 10 years old and I have lots of trouble with my bones in school. I hurt a lot when I write new teacher is real tough and I don't think she is going to understand my not being able to write very much. Being 10 isn't easy, but it really isn't easy being 10 and have crummy bones and being small."

Teasing and Ostrasizing Children with MHE can appear "different". Part of the curriculum of every school should be the appreciation for and respect of others and our diversity. The terrifying increase in violence in our schools should teach us one basic lesson: we all need to learn to respect each other and treat each other with courtesy.

Mike (13) "A kid walked up to me on the playground and looked at my arms which are visibly deformed. He stared and then started chanting, "What are you some kind of mutant?" He said this several times and then asked, "What are you retarded, too?" when I didn't know how to answer him."


A simple teaching component on MHE would probably have alleviated this child's confusion and lessened the chance of his saying something so obviously inappropriate. We tend to fear what we don't understand. Achievement The most important step in making life easier for a child with MHE is also the hardest, and that is recognizing the child's difficulties. Children need to feel loved and valued just as they are, whether short or tall, thin or heavy, lumpy-boned or perfectly formed. Once parents, teachers, and others come to terms with the child's limitations, they can talk about them with the child in an open and realistic way. Children may have a hard time putting their feelings into words, but that does not mean they don't have feelings about being different. Children with MHE usually know they are different by the time they reach school age, if not before. These children may be relieved to have parents, teachers, and friends who can help them identify and express feelings about being different. In a society that values achievement and being the best, be it in sports, school, or business, it can be difficult for some to understand that not all limitations can be "overcome". For many children with MHE the simple act of finally being able to tie a shoe can be a major milestone. That accomplishment, however, does not mean that child is now capable of running a race. Too often we set unreasonable expectations for our children, whether able-bodied or disabled. The media shows us examples of amputees skiing and paraplegics playing basketball. While these are laudable achievements, they are not realistic goals for every disabled child, just as not every able-bodied child will become a professional ball player or figure skater or Olympic Gold Medal winner.

"My daughter has shown amazing courage and strength in relearning to walk after several tumors in her leg stretched and entrapped a major nerve there. However, sometimes people think that recovery from an MHE surgery is just like recovering from a broken leg. They think you heal and are done with it. They don't realize that there can be other tumors in other places that are still blocking and restricting other movements, causing other problems. Sometimes someone will make a comment on how my daughter will be able to do this or that soon, and she'll reply that she won't be able to do that. People think they're helping by saying things like, "My family motto is never say never!" My daughter knows her body and she knows her limitations, but she also knows her talents and her strengths, and that should be enough! Sometimes you have to acknowledge that "never" is the reality, accept it, and move on to what is possible!"

MHE AND TEENS: As children with MHE enter their teen years the challenges of living with this disorder may intensify. Many surgeries for MHE take place after the growth plates close when children are fifteen or sixteen years old. Add that to the normal challenges of being a teenager!

"As a 17-year-old girl, I find it very hard to be different from other people. I'm strong enough to be my own person mentally, but it's tough to be physically different. My fingers are short and the way my fingers grew on my left hand it looks as though what should be the third and fourth fingers were switched! , I'm shorter than I should be. What has been the worst is what this disease has done to my ego and self-confidence. In the beginning of high school you learn that being different is not all right, and therefore not attractive. "

But even when the teenager feels they are dealing well with the implications of their disease the people around them can still have a profound effect:

"Today in my psychology class we were all asked to introduce ourselves and discuss a hardship that we had to face in our lives. Stories ranged from the death of a parent or friend, parent's divorces, to being grounded or getting a speeding ticket. Obviously, my toughest hardship to date has been MHE. So, when it was my turn I stood up and told the class that I have a bone condition where spurs form on my bones, usually at the growth plates, and because of that I'm short, have abnormally short fingers, and have eight scars on my knees and right wrist. That I was unable to do anything very athletic or lift heavy objects, walk up the stairs from the first floor to the fourth. The teacher was nice, she asked questions about malignancy, if I knew other people with the condition, and how it might affect me later in life. The stares; I hate the stares the most. High school students know nothing about compassion. I either was getting looks of extreme pity, or scared looks, almost as though half of the class was afraid they would get it just from being in the same room with me. It isn' t the common cold, you know! Seems to me the looks of pity should go towards the poor people who have lost a parent or good friend, not to the girl with the bone condition and the scars. It's so frustrating a lot of the time. I deal with my bones well and without much self-pity. Why can't other people?" This Handbook has been designed to help educate those who have MHE, but more importantly those around children with MHE: parents, family members, teachers, classmates and friends.

We would like to offer a special thank you to the many families affected by MHE who graciously shared their experiences and insights with us. Without their help, this Handbook would not have been possible.

MHE and Me A Support Group for Kids with

Multiple Hereditary Exostoses and Their Families 14 Stony Brook Drive Pine Island, NY 10969

845-258-6058

[email protected] http://www.mheandme.com

MHE and Me is a proud member of

The MHE Coalition http://www.mhecoalition.com

Last Update: October 4, 2003



Section Three

Common School Concerns for Students with MHE

School Needs Checklist for

Kids with MHE


Chapter Five Section Three

1

Common School Concerns for Students with MHE

Having Multiple Hereditary Exostoses does not affect a child's ability to think and learn. However, pain, fatigue, and mobility issues can affect both a child's ability to concentrate and a child's performance in school. The following are just a few of the many challenges that might be present for a child with MHE, as well as some possible solutions. It is important to develop a partnership with your child's school to find the best solutions for your child's particular needs. Some schools will supply needed accommodations on an informal basis; other times it will be necessary, and often desirable, to obtain a 504 Accommodation Plan or Individual Education Plan (“IEP") for your child. It is important to remember that some of the most valuable ways to help your child are communicating with your child's teacher(s) on a regular basis, and informing school personnel when there is any change in your child's condition. There may be times when modifications are required due to fatigue and decreased endurance levels, new problems with pain and/or mobility due to exostoses growth, scheduled surgery and recuperation, etc. Unless you let the school know what is happening, they will not understand what your child is going through. Accommodations are not something that are just given. They must be requested and justified, and it is often up to the family to make appropriate suggestions as to what will best help their child. Remember that you are your child's best advocate, and that it will be necessary for you to teach your child's educational team (teacher(s), school nurse, administrators) about MHE and how it affects your child's educational needs. To learn more about your child's educational rights, contact The National Information Center for Children and Youth with Disabilities (NICHCY), P.O. Box 1492, Washington, DC 20012, 1-800-695-0285, http://www.nichcy.org Difficulty: Difficulty climbing stairs or walking long distances Strategies: *Request elevator permit *Schedule classes to decrease walking and climbing *Request extra time getting from class to class *Use a wheelchair if needed Difficulty: Inactivity, stiffness due to prolonged sitting Strategies: *Change position every 20 minutes *Sit at the side/back of room to allow walking around without disturbing the class *Ask to be assigned jobs that permit walking (collect papers, etc.) Difficulty: Difficulty carrying books/cafeteria tray Strategies: *Keep two sets of books; one in appropriate class, one at home


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*Have a buddy to help carry books *Determine cafeteria assistance plan (helper, reserved seat, wheeled cart) Difficulty: Difficulty getting up from desk Strategies: Request an easel top desk and/or a special chair Difficulty: Handwriting difficulty (slow, messy, painful) Strategies: *Use "fat" pen/pencil, crayons, special pencil grips *Use a felt-tip pen *Stretch hands every 10 minutes *Use a tape recorder for note taking *Photocopy classmate's notes *Use a computer for taking notes, reports, etc. Many students with MHE have had good results with the AlphaSmart Keyboard *Request an alternative to timed tests (oral test, extra time, computer) *Educate teacher - messy handwriting may be unavoidable at times Difficulty: Difficulty with shoulder movement/dressing Strategies: *Wear loose-fitting clothing *Wear clothes with Velcro closures *Get adaptive equipment from occupational therapist Difficulty: Difficulty reaching locker Strategies: *Modify locker or request alternative storage place *Use two lockers with keylocks instead of dials Difficulty: Difficulty raising hand Strategies: Devise alternative signaling method

This material has been adapted for children with MHE (c) 1998, Raising a Child with Arthritis. Used by permission of the Arthritis Foundation,

1330 W. Peachtree Street, Atlanta, GA 30309. For more information, please call the Arthritis Foundation's Information Line at

1.800.283.7800 or log on to www.arthritis.org

MHE and Me - A Support Group for Kids With Multiple Hereditary Exostoses and Their Families

14 Stony Brook Drive, Pine Island, NY 10969 www.mheandme.com [email protected]


3

School Needs Checklist for Kids with MHEYou and your child can work together on this checklist or, depending on his or her age, our child may be able to answer questions alone. It can give your child's teacher a good idea of your child's strengths and weaknesses.

A = always, S = sometimes, N = never, NA - does not apply to me

Getting Ready for School ___ I can get out of bed without any help and without holding on to anything. ___It takes me less than 30 minutes to feel good after I get up in the morning. ___I must take a bath or shower to loosen up in the morning. ___I can go up and down the stairs when I first get out of bed ___I can fully dress myself and put my shoes and socks on quickly in the morning. ___I can tie my shoes. ___I have a lot of pain in the morning before I go to school. ___I need to bring splints, crutches, a walker, cane, or wheelchair to school to help me during the day. ___I go to school later in the day than the other kids because of my MHE. ___I take pain medication before I go to school. Getting to School ___I can walk to school or the school bus stop without any difficulty or help. ___Waiting for the school bus is easy. ___I can get into the school bus without any difficulty. ___I need my parents to drive me to school or I take special transportation provided by the school. Activities at School ___I can go up and down stairs quickly at school without any difficulty. ___I can use the elevator at school by myself without any difficulty. ___I need to get up and walk around in the classroom because of stiffness or pain. ___I can carry my own lunch tray. ___I can open my own milk carton ___I need to take pain medication at school ___I get embarrassed when I have to go to the school nurse. ___I can use the bathroom by myself at school without any difficulty. ___I find it easy to carry my own books at school and to and from school. ___I can write at school without any pain or stiffness. ___I find it difficult to write quickly. ___I need more time than other kids to take exams or complete homework because of my MHE.

___I find it hard to hold my pen or pencil. ___I find it hard to write on the chalkboard. ___I find it hard to use scissors to cut. ___It is hard to raise my hand in class because of my MHE ___I find coloring difficult. ___I find painting difficult. ___I get so tired at school, I want to rest. ___I'm afraid some of the other kids will knock me over. ___I get frustrated because I can't always keep up with the other kids. ___I find it difficult relating to the other kids at school ___I would like the other kids in my classroom to know I have MHE as long as they don't treat me differently. ___I find it difficult putting on or taking off my gym clothes. ___I find it hard participating in regular gym activities. ___Playing outside in cold is difficult for me. I Find It Difficult To: ___ run ___jump ___hop ___skip ___bend ___climb ___pull ___hang ___ push ___pull ___kick ___throw ___tumble ___wrestle ___play soccer ___play basketball ___play volleyball ___play contact sports ___other _________________________________ After School Activities ___I need to take a nap or rest period when I get home from school. ___I can finish all my homework every night without difficulty ___I can participate in after-school activities without difficulty. ___I cannot get through the school day and must go home early.

MHE and Me A Support Group for Kids

With Multiple Hereditary Exostoses And Their Families

14 Stony Brook Drive, Pine Island, NY 10969 www.mheandme.com – [email protected]


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Chapter Six – Chondrosarcoma

Section One

A Patient’s Guide to Chondrosarcoma Contributor: Elizabeth Munroz, Author and Webmaster of "A Patient's Guide to Chondrosarcoma Website" (www.geocities.com/chondrosarcoma); Moderator, Yahoo Chondrosarcoma Support Group; Founder and Webmaster of website outlining her personal story of MHE and Chondrosarcoma. Reprinted with permission of the author.

Chapter Six Section One 1

A PATIENT'S GUIDE TO CHONDROSARCOMA (The following is a copy of the website located at www.geocities.com/chondrosarcoma/) CHONDROSARCOMA QUESTIONS This site is being maintained by a patient who has survived Chondrosarcoma. I am not a physician. I have no medical professional degree. I am a layperson, a patient, who has long term survival, and no recurrence of Chondrosarcoma for many years. I have learned many things along the way about Chondrosarcoma. I am sharing here what I have learned, and providing as much information as possible to the best of my ability, and understanding. It can be very confusing to research Chondrosarcoma. There are so many kinds of Sarcoma, and one can get confused sorting out the facts. Some of my doctors have taught me a great deal. I have attended college courses, including pre-med. I have learned to research considerably. I hope to save others from having to spend their lives trying to learn about Chondrosarcoma on their own. If I can help just one person to get through their experience with Chondrosarcoma, then all my years of going through it alone, and never knowing another soul with the same diagnosis, will have been worth it. The following questions are answered. 1) What's the difference between healthy bone and Chondrosarcoma? 2) What is Chondrosarcoma? 3) What are the possible risks of developing Chondrosarcoma? 4) What are the symptoms of Chondrosarcoma? 5) What locations in the body are chondrosarcoma tumors commonly found? 6) Where is the best place to go to receive appropriate medical treatment? 7) What are the methods used to diagnose chondrosarcoma? 8) What is tumor staging for chondrosarcoma? 9) What are the different kinds of Chondrosarcoma? 10) What are the chances for full remission, cure and survival? 11) What would happen if no surgery is done to remove chondrosarcoma? 12) What about Radiation and Chemotherapy for Chondrosarcoma? 13) Is support available for Chondrosarcoma patients?


14) What are the possible long-term physical effects of Chondrosarcoma? 15) What alternative methods of treatment are known to be successful in curing chondrosarcoma? 16) Who is the person that created this site? CHONDROSARCOMA QUESTIONS What is Chondrosarcoma? Chondrosarcoma is a disorder of bone growth (tumor) that is different from the normal condition of the bone. Chondrosarcoma is common to humans as well as animals. People who have chondrosarcoma have a tumor growth, or malignant bony type of bump, which can vary in size, and location depending on the individual affected. Chondrosarcoma usually develops from normal cartilage, but it may also form within benign tumors of cartilage and bone called osteochondromas A Chondrosarcoma is not benign. This is a cancer of cartilage cells, and is the second most common primary bone cancer. Chondrosarcoma is malignant. It is a tumor in which cancer (malignant) cells begin growing in cartilage tissue within or on the bone (central chondrosarcoma) or secondarily within the cartilaginous cap of a pre-existing osteochondroma (peripheral chondrosarcoma). Chondrosarcoma can be referred to by various names depending on the type of cells identified by looking at them under a microscope. It is important to understand the difference between a benign and malignant bone tumor. A chondroma, exostosis or enchondroma, is a benign bone tumor. Benign bone tumors are not sarcomas. Benign bone tumors do not spread to other tissues and organs, and are not life-threatening. They are generally cured by surgery. Types of benign bone tumors include osteoma, osteoid osteoma, osteoblastoma, osteochondroma, (also known as exostoses) hemangioma, and chondromyxoid fibroma. These are not malignant. Malignant tumors arising from the skeletal system are rare, representing only two/tenths of a percent of all new cancers. Approximately 2100 new cases occur in the United States each year. The most common type of bone cancer is osteosarcoma, which develops in new tissue inside growing bones. Chondrosarcoma arises in cartilage. Evidence suggests that Ewing's sarcoma, another form of bone cancer, begins in immature nerve tissue in bone marrow. Osteosarcoma and Ewing's sarcoma tend to occur more frequently in children and adolescents, while chondrosarcoma occurs more often in adults. Chondrosarcoma is not the type of cancer that has spread from other organs to the bone. That is called metastatic bone cancer which did not start in the bone. A typical example is when lung, kidney, liver, breast or other cancer spreads to the bones as part of metastasis. Examination of the cells of metastatic bone cancer look like lung cancer cells, (or liver, breast etc.) not true bone cancer cells, even after they have spread from the lungs to the bones.


Chondrosarcoma should not be confused with Osteosarcoma which is also called osteogenic sarcoma. Osteosarcoma is a cancerous tumor within the bone itself, (not the cartilage) and is the most common primary bone cancer. Although osteosarcoma most often occurs in young people between age 10 and 30, about 10% of cases develop in people in their 60's and 70's. Osteosarcoma is rare during middle age. More males than females get osteosarcoma. These tumors develop most often in bones of the arms, legs and pelvis. Chondrosarcoma has a better outcome than osteosarcoma. The treatment options for both these cancers are different. Treatment for chondrosarcoma is usually less invasive than treatment for Osteosarcoma. Treatment for chondrosarcoma commonly only involves surgical removal of the tumor and surrounding tissue. Recurrence rates for chondrosarcoma are less than osteosarcoma. Chemotherapy and Radiation treatments are more frequently necessary in osteosarcoma and not in chondrosarcoma. The percentage for full recovery in chondrosarcoma patients is much higher than in osteosarcoma. These are other types of bone cancer which are NOT chondrosarcoma Ewing's tumor Fibrosarcoma Malignant Fibrous Histiocytoma Giant cell tumor of bone Chordoma Lymphomas Kaposi's Sarcoma Multiple Myeloma What are the possible risks of developing Chondrosarcoma? It is not contagious. It cannot be passed on to another person by exposure to a chondrosarcoma patient. Although scientists are not certain what causes chondrosarcoma, a number of factors may put a person at increased risk. Chondrosarcoma is a condition that sometimes has a genetic component. Certain hereditary conditions are more likely to be susceptible. Chondrosarcoma is more likely to develop in people who have specific pre-existing genetic conditions, such as Ollier's disease, Maffucci Syndrome and Multiple Hereditary Exostoses or Osteochondromatoses. People affected by these conditions are more susceptible because they have already existing benign bone tumors (sometimes mistakenly called bone spurs) which have a chance of becoming malignant. People with these hereditary conditions who experience sudden growth spurts or increases in hormone production, such as pregnancy, have a slight increased possibility of a primary benign bone tumor changing into a chondrosarcoma and should be followed by a Bone Tumor Specialist all their lives. Recently, chromosomes in the genes have been shown to have specific locations where the genetic information for chondrosarcoma resides. Continuing research of the genes and how the proteins encode for them will give tremendous insight into the growth of cells. This information is important since chondrosarcoma is a problem with the growth of cells. Understanding the gene and the function of its protein might eventually provide the knowledge leading to better treatment. Some researchers feel there actually may be hopes


that genetic manipulations could treat or prevent chondrosarcoma and may be possible in the future. The gene mapping studies will serve as the basis for the testing of patients at risk for chondrosarcoma. Information from this kind of testing could lead to the prevention of the development of Chondrosarcoma. And it is hoped that physicians could be equipped to perform such tests in the future. However, there are Chondrosarcoma patients who do not have any of these genetic conditions. Some researchers report that a previous traumatic injury to the bone can be a possible suspected cause for Chondrosarcoma, but so far this idea is not entirely scientifically proven. Also, there is some evidence that environmental exposure can pre-dispose a person to chondrosarcoma. An example of this known possibility is exposure to carcinogenic chemicals, gardening chemicals, as well as heavy doses of radiation exposure usually performed on patients with other previous forms of unrelated cancer. Adults with Paget's disease, a non-cancerous condition characterized by abnormal development of new bone cells, may be at increased risk for osteosarcoma or chondrosarcoma. When chondrosarcoma occurs in children and young adults, it is usually those who have had radiation or chemotherapy treatments for other conditions. What are the symptoms of Chondrosarcoma? The first symptom may be a solid mass or lump. Pain is often a common symptom of chondrosarcoma. Although some patients do not experience pain and their tumor is discovered quite by accident. Symptoms of chondrosarcoma may vary depending on the location and size of the cancer. If the mass interferes with a function of the body, it may cause other feelings such as pressure against other organs in the area of location. Tumors that occur in or near joints may cause swelling or tenderness in the affected area and interfere with normal movements and can weaken the bones, occasionally leading to a fracture. Often chondrosarcoma goes undiagnosed or misdiagnosed at first because the symptoms can mimic other conditions. There can be sciatic-like pain if located in the pelvis or thighs. Nerve damage or vascular compromise can occur when a tumor is pressing on them, too. The primary symptoms of chondrosarcoma do NOT cause symptoms of fever, fatigue, hair loss, weight loss, or night sweats the way that some other cancers do. These type of symptoms may develop if the chondrosarcoma patient goes through chemo or radiation. What locations in the body are chondrosarcoma tumors commonly found? Chondrosarcomas may develop in any part of the body, but most are commonly found in the pelvis, rib cage, arms, and legs. Although any bone can be affected, the long bones (legs, arms, fingers, toes,) pelvis and shoulder blades are the most common. While the face and skull are generally unaffected, it is not unheard of. Occasionally chondrosarcoma has been found in the spine, or skull. It is extremely rare to find chondrosarcoma in any internal organs. If Chondrosarcoma metastasizes, it usually spreads to the lung.


Where is the best place to go to receive appropriate treatment? The majority of patients with chondrosarcoma are best treated at major SARCOMA centers with special diagnostic facilities and Musculoskeletal Tumor Specialists or Orthopedic Oncologists available. Because many bone cancers are not common, it is often a good idea to seek an opinion from a major cancer center that has a wide experience in treating bone cancers. This is where you will find organized groups of doctors and other health care professionals who work together to provide the best treatment options and recovery. If your primary care physician suspects chondrosarcoma, a simple referral to an Orthopedic doctor may not be your best option, even with an HMO. Be sure to ask your doctor what his qualifications and credentials are as a "Bone Cancer Specialist." Obtaining a second opinion can provide more accurate information and help you feel more confident about the treatment plan that is chosen for the future condition of your medical well-being. Most insurance companies require a second opinion before they will agree to pay for treatments, anyway. You are entitled to a second opinion. Remember that you have a right to a second opinion. You may find it helpful to discuss chondrosarcoma with an Orthopedic Tumor Specialist who has the most up to date facts about your disease at a major medical center. If you cannot find one in your area, call a major University Medical Center and ask for a recommendation. What kinds of doctors are most qualified to treat chondrosarcoma? Orthopedic doctors who are Bone Tumor Specialists. Their specialty designates them as Musculoskeletal Tumor Specialists or Orthopedic Oncologists. What other kinds of medical staff are involved in diagnosing and treating chondrosarcoma? Orthopedic Oncologist Musculoskeletal Tumor Specialist Neurosurgeon (if tumor is located in skull or vertebrae) Thoracic Surgeon (if tumor is located within rib cage) Oncological Radiologist Proton Beam Radiologist Pathologist Physical Therapist Prothetist What are the methods used to diagnose chondrosarcoma? If a patient has symptoms of a chondrosarcoma, the doctor may need to perform a physical examination based on the symptoms described by the patient. If the patient has a firm, soft-tissue mass attached to the underlying bone with pain or tenderness, this may be an indication to suspect Chondrosarcoma. Recent noticeable growth of a lump, pain and swelling are often the most common complaint. Sometimes, however, there is no


obvious evidence of pain and the diagnosis can be confused. There is usually no swelling in any adjacent joint, and range of motion is usually normal, unless tumor has grown large enough to cause a problem. Fracture of the involved bone is rare. However, in some patients this is the first indication that chondrosarcoma may be present. Systemic symptoms can be associated with the size and location of the tumor. For example, pelvic tumor can present with sciatica, numbness or tingling, extra bladder pressure, bowel or menstrual problems. Tumor located in the rib cage can cause pressure upon the lungs, heart, liver or stomach. In order to determine the diagnosis properly, the doctor may order x-rays and other tests such as a CAT scan, MRI or bone scan. One of these tests, alone, is not enough to determine the diagnosis. So, a combination of these tests helps to reveal the size and characteristics of the tumor and adjacent tissue. The Radiologist may detect changes consistent with Chondrosarcoma which is most often present on x-ray film as ill-defined lesions with a moderate-sized to large soft tissue component and often demonstrating calcified cartilage. Cat Scan, MRI, Bone Scan, and Ultrasound will give further clarification, and definition of the tumor, and/or in order to determine if other organs are involved. What do Radiologists look for in a bone scan? (paraphrased from http://gamma.wustl.edu/bs087te143.html) "Benign Osteochondroma (exostosis) may show normal to dramatically increased bone uptake. Osteochondroma (benign bone tumor) is relatively uncommon in the spine (1-4% occur in the spine and account for 4% of solitary primary spine bone tumors). Normal to mild uptake in an exostosis generally excludes malignancy. However, marked uptake is not specific for malignant degeneration. More intense uptake is seen in growing children. Fracture, of course, results in intense uptake. Thus, the role of bone scan in exostosis or multiple hereditary exostosis is questionable. Thin-slice CT may provide the diagnosis if marrow and cortical continuity can be demonstrated. MRI will show the characteristic cartilaginous cap (intermediate on T1- and high on T2-weighted images). If this cap is greater than 1 to 2 cm in thickness, concern must be raised of chondrosarcoma. Chondrosarcoma, the second most common malignant spinal primary bone tumor, is a destructive, lytic tumor with a chondroid matrix consisting of "rings and arcs" radiographically. Cortical destruction is always present (excluded by CT in this case). A soft tissue component is common. In bone scan, these produce patchy or homogeneous increased uptake." According to an article entitled: Enchondroma and Chondrosarcoma in Seminal Musculoskeletal Radiology 2000;4(1):59-71 By Flemming DJ, Murphey MD PMID: 11073818, UI: 20527950


"The judicious use of computed tomography, magnetic resonance imaging, and nuclear medicine in conjunction with appropriate clinical data allows the radiologist to establish the correct diagnosis of benign or malignant medullary chondroid lesion in the majority of cases." There are no blood tests available at this time useful for diagnosing Chondrosarcoma. Blood tests will eliminate the possibility of other kinds of bone cancer. Once sufficient studies have been done, the doctor may also cut out a small piece of tissue and have a pathologist look at it under the microscope to see if there are any cancer cells. This is called a biopsy. What is tumor staging for chondrosarcoma? Once chondrosarcoma is found, biopsy tests will be done to find out if the cancer cells have spread to other parts of the body. This is called staging. The doctor needs to know the stage of the cancer in order to plan treatment. There are several staging systems for chondrosarcoma, but no single staging system applies to all types of this cancer. The treatment options in this summary are based on whether the cancer has spread or the amount of tumor left after surgery. The general non specific stages of chondrosarcoma are non-metastatic, metastatic, and recurrent. Treatment by stage If the Chondrosarcoma is stage I or II the treatment option may simply be surgery to remove all of the cancer. Patients may undergo close monitoring with CT scans on a regular basis to be sure the tumor does not place any vital organs in danger, or if complete removal of the tumor is not possible, or if the tumor comes back following surgery. Sometimes a second operation must be done to be sure that all the tumor has been removed, or if the tumor comes back following treatment. No recurrence of tumor after five years is considered to be cured. What are the different kinds of Chondrosarcoma? Chondrosarcoma can be classified in the following ways depending on location of the tumor in the body, and the type of cells located in the tumor, as determined by the Pathologist. Conventional Chondrosarcoma

Clear Cell

De-differentiated

Extraskeletal Myxoid Chondrosarcoma

Extraskeletal Mesenchymal Chondrosarcoma

(to get further descriptions of these google search may be useful as well as a search on PubMed)


1. Nonmetastatic chondrosarcoma The cancer is found only in the area where it started and has not spread to other parts of the body. 2. Metastatic chondrosarcoma The cancer has spread from where it started to other parts of the body, in most cases, the lung. Patients who have metastatic chondrosarcoma may receive combined chemotherapy, radiation therapy, and surgery to remove the cancer that has spread. 3. Recurrent chondrosarcoma The cancer has come back (recurred) after it has been treated. It may come back in the area where it started or (in rare circumstances) in another part of the body. Treatment for recurrent chondrosarcoma depends on treatment received previously, the original biopsy staging results, the part of the body where the cancer has come back, and general condition of the patient. Amputation is sometimes necessary. What is the possibility of recurrence? Once removed, chondrosarcoma can reoccur, but may not immediately re-grow to a size large enough to be symptomatic or as noticeable as the original tumor. It is very important to have follow-up appointments with the doctor in order to keep track of any further re-growth. Follow up should include Cat Scans. The distinction between a recurrence in the same location and recurrence in a different part of the body makes an important difference. A recurrence in the same location as the original tumor is considered to be a non-metastatic chondrosarcoma. A recurrence in a different part of the body is considered metastatic chondrosarcoma, and more serious. What are the chances for full remission, cure and survival? The chance of recovery, (prognosis) depends on the type, location, and stage of the tumor. The chance of recovery also depends on the age, size of the tumor, stage of development, and general health of the patient. In the year 2000, about 2,500 new cases of cancer of the bones and joints were diagnosed, and about 1,400 deaths from these cancers were the expected outcome. Primary cancers of bones account for less than 0.2 percent of all cancers. What are the percentages of cancers that are bone cancers? Osteosarcoma is the most common primary bone cancer (35% of cases) followed by chondrosarcoma (26%)


Ewing's tumor (16%) chordoma (8%) malignant fibrous histiocytoma/fibrosarcoma (6%) Several other more rare cancers account for the remainder of cases. The long term prognosis for people with primary bone cancer varies greatly, depending on the specific type of cancer and how far it has spread. If you have questions about your personal chances of cure of bone cancer, or how long you might survive such a cancer, it is always best recommended to talk with the people who know your unique circumstances best - your Musculoskeletal or Orthopedic Oncology care team. What would happen if no surgery is done to remove chondrosarcoma? Chondrosarcoma will continue to grow and become more aggressive, the longer it is left in the body. Depending on the location in the body, it can cause considerable problems with other organs. Chondrosarcoma on the rib cage, for example, can grow to the point of puncturing a lung or causing problems with the heart. Chondrosarcoma in long bone, such as a leg or arms, can eventually cause spontaneous fracture. Chondrosarcoma located close to the joints can cause separation of the joints. Untreated chondrosarcoma can cause tears in muscle or ligaments, cause severe nerve damage with numbness or prevent blood from flowing properly through the vasculature resulting in clotting or crippling. Untreated Chondrosarcoma, depending on the staging, can be so aggressive as to cause death. What about Radiation and Chemotherapy for Chondrosarcoma? Radiation and Chemotherapy are not common methods of treatment for Chondrosarcoma. Only rarely are radiation and chemotherapy used on a patient with Chondrosarcoma. The decision to do so, depends on the advanced staging of the tumor and the type. More aggressive forms of Chondrosarcoma are given the designation of Stage III and Stage IV. If it is considered to be an aggressive or advanced chondrosarcoma, chemotherapy or radiation may be considered as part of the treatment plan. If you are not being treated by a Musculoskeletal Oncologist (Bone Tumor Specialist) question your doctor as to why one is not included in your medical care. Ask why radiation or chemotherapy is being offered and what medical evidence there is for usefulness of such treatment for chondrosarcoma. Ask if you are being offered radiation or chemotherapy as part of a research protocol. Very rarely, if the Chondrosarcoma is dedifferentiated, then radiation therapy, or chemotherapy to reduce the tumor size may be followed by surgery to remove the cancer. Chemotherapy uses drugs to kill cancer cells. Chemotherapy may be taken by mouth in the form of a pill, or it may be put into the body by a needle in a vein or muscle. Chemotherapy is called a systemic treatment because the drugs enter the bloodstream, travel through the body, and can kill cancer cells throughout the body.


Radiation therapy uses high-energy rays to kill cancer cells and shrink tumors. Radiation may be given before surgery or following surgery, if the surgeon is unable to remove adequate tissue surrounding the tumor. Radiation may come from a machine outside the body (external radiation therapy) or from putting materials that produce radiation (radioisotopes) through thin plastic tubes into the area where the cancer cells are found (internal radiation therapy). Is support available for Chondrosarcoma patients? Since it is a rare condition, there are not a lot of people available to form a local support group in your neighborhood or town, even your city. As a person with cancer, it would be appropriate to participate in other types of cancer support groups, if you choose. But the uniqueness of Chondrosarcoma has a tendency to make one feel isolated and confused when communicating with patients with other kinds of cancers. Chondrosarcoma patients can join together online and share their unique experiences through the Yahoo "Chondrosarcoma Survival Support Group", which is Moderated by the author of this website. Yahoo will require you to get a yahoo ID if you don't already have one. Applying for membership does not automatically admit you to the group. You will be required to provide identifying information to the Moderator before being accepted into the group. This is to protect the privacy of all members. If you have questions about the process required for joining the online support group or, if you do not have online access you may contact the author of this web site, Elizabeth Munroz by calling (831) 786-9795 An example of most supports groups: When you have a well known condition such as heart disease, or diabetes you can pick up just about any magazine to read the latest article on the subject. You can turn on the television and the evening news will give a spot to your condition. Your local hospitals, community centers or adult schools offer classes on how to improve your chances for survival. You can always find a support group with real people participating in them right there in your own home town. There is a large proportion of the population with these well known conditions who can make contact, enjoy one another's company, share knowledge and information regarding their condition and support one another through the hard times. But, you don't have these opportunities for knowledge and understanding of Chondrosarcoma. Not only do you NOT find articles in magazines, news reports, educational classes or support groups, but in all likelihood, you will not find another single person in your daily life with the diagnosis of chondrosarcoma. (The exception now is the internet.) Even most doctors are not very knowledgeable about Chondrosarcoma.


Why is there so little information available about chondrosarcoma as compared to other kinds of Cancer? Chondrosarcoma is a rare condition, even though it is the second most prevalent form of bone cancer. Rare conditions do not get the attention that more common diseases do from the medical establishment. Rare conditions do not get a lot of funding for research. Rare conditions are often referred to as "orphan diseases". The average Family Physician and some Oncologists and Orthopedic doctors are probably completely unfamiliar with chondrosarcoma, and how to diagnose it and treat it. Before the internet, it was difficult to find information for the public reader on the subject of chondrosarcoma. Medical research articles on it were only found in Orthopedic medical journals, and occasionally in other specialty periodicals when a patient with chondrosarcoma had it located in a part of the body affecting another specialty. Even now, with the internet, the plethora of other articles and medical information regarding other conditions is like day at the beach in comparison to articles available on chondrosarcoma, which are like finding a particular grain of sand. A good source for information on chondrosarcoma is PubMed What are the long term physical effects of Chondrosarcoma? Sometimes chondrosarcoma grows near nerves or tendons and press on them. Surgical removal of the tumor is imperative so damage won't occur to the nearby structures. Due to the necessity of complete removal of chondrosarcoma to prevent metastasis a large amount of body tissue may be affected, including possible partial amputation. Improvements in proper medical care for chondrosarcoma patients often include limb-sparing techniques which may prevent such outcomes. Other possible long term effects of chondrosarcoma are: Pain

Scars

Deformity

Nerve damage

Early onset of Degenerative Osteoarthritis

Bio-mechanical and musculoskeletal problems

Depression

Anxiety

Post Traumatic Syndrome


What alternative methods of treatment are known to be successful in curing chondrosarcoma? There are no known alternative treatments to cure chondrosarcoma. None. If the reader should happen to have substantiated proof of an alternative cure for this rare cancer, please inform the web author. The most effective method of treating chondrosarcoma to prevent recurrence or possibly create a cure is ablative surgery with clear margins. However, if you are considering any alternative or complementary treatments, discuss this openly with your cancer care team. Oftentimes they are open minded to the fact that a patient may want to include a complementary method to help recovery. However, just because a friend tells a fantastic story of cure, doesn't mean that it is fact. Arm yourself with knowledge and sort out the facts from the fiction. Request information from the American Cancer Society or the National Cancer Institute. Do as much research through www.pubmed.com where you can to document the usefulness of whatever alternative treatments you may be considering. There is scientific research on complementary treatments. Just because someone writes up a webpage touting a cure with some claims that patients have supposedly made of success, does not give you true medical evidence of the facts. Ask yourself if you are desperate, or hopeful in regards to attempting such methods. If you are desperate, then please be careful. Don't be gullible. Don't allow your judgment to be swayed by the idea of avoiding surgery, or whatever treatment your physician is suggesting. Some alternative treatments can be a useful adjunct to a patient receiving traditional treatment. Yet, some alternative treatments can interfere with standard medical treatments or may cause serious side effects. Be well informed about your choices.

A PATIENT'S GUIDE TO CHONDROSARCOMA

CHONDROSARCOMA QUESTIONS Who is the person who created this site?

Elizabeth Munroz Born in Buffalo, New York, Elizabeth presently lives in Watsonville, California. She was born with a genetic condition called Hereditary Multiple Exostoses, which includes having many benign cartilage bone tumors. As a young woman, one of those tumors transformed into a malignancy called Chondrosarcoma. This was located in the pelvis. She had seven recurrences from 1967 to 1980. With such long term survival, she wants very much to encourage others with the diagnosis to have hope. She is the Moderator of the Yahoo Chondrosarcoma Support Group http://health.groups.yahoo.com/group/Chondrosarcoma/ Since she set up a website outlining her story of MHE and Chondrosarcoma, she has had contact with many people from all over the world with the same conditions. members.tripod.com/MOONROSE_22/ Elizabeth can be contacted by email at the following addy: [email protected] (Make sure you put "Chondrosarcoma Question" in the title of the email, so she won’t miss your message.) If you wish to make contact about Chondrosarcoma by telephone, Elizabeth will welcome your call between Noon and 10 pm Pacific Time at (831)786-9795



A PATIENT'S GUIDE TO CHONDROSARCOMA This site was created in loving memory of Raj A. Megha. Disclaimer: This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation. It is further recommended that patients and laypersons looking for guidance among the sources of this webpage are strongly advised to review the information with their professional health care provider. copyright 2001 by Elizabeth Munroz All rights reserved.

Date post:	19-Oct-2014
Category:	Health & Medicine
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