Cystic Fibrosis 1
Running head: CYSTIC FIBROSIS
Epidemiological Study of Cystic Fibrosis
Dan Abrahamsson
Hawai’i Pacific University
NUR 4960
Frances Spohn, MS, MPH, RN, CHES
April 8, 2023
Cystic Fibrosis 2
Abstract
Cystic fibrosis (CF) is the most common inherited disease in the United States. There is no cure
and the complications of CF are fatal. Most patients die during early adulthood. Treatment
opportunities focus on secondary and tertiary prevention. The only options to prevent the passing
on of the defective genes to offspring are abstention from sexual intercourse, contraception, or
abortion. Medical care is uninterrupted and costly. Patients and families are subject to constant
stressors. Quality and access to care for rural and low income families are inadequate. Proficient
case management and the collaboration of physicians, physiotherapist and community health
nurses can improve the quality of care and quality of life for CF patients and their families.
Cystic Fibrosis 3
Table of Contents
Introduction…………………………..……………………………………………………………5
I. Overview of the Problem………………….……………………………………………….….5
A. Definition…………………………………………………………………………………5
B. Impact……………………………………………………………………………………..6
1. On client…….……..…………………………………….……………………………6
2. On family……………………………………………………….………………..……7
3. On society………….………………………………………………………………….9
C. Epidemiology Triad…………………….………………………………………………..10
1. Agent………………………………….……………………………………………..10
2. Host……………………………………..…………………………………………....11
3. Environment……………………………………..…………………………………..12
II. Literature Review/Statistical Evidence………………………………………………………14
A. International……………………………………………………….……………………..14
B. National………………………………………………………………………………….16
C. State/Local……………………………………………………….………………………16
III. Cultural/Ethnic Considerations……………………………..………………………………..17
IV. Community Resources……………………………………………………………………….18
A. National…………………………………………………….……………………………19
B. State/Local……………………………………………………………….………………20
V. Healthy People 2010…….…….……………..……..………………………………………..22
A. Objective 1-6…...………………………………………………………………………..22
B. Objective 6-2...…………………………………………………………………………..23
Cystic Fibrosis 4
Table of Contents (Continued)
VI. Roles of Community Health Nurses……………………………...………………………….23
A. Primary Prevention………………………………………………………………………24
1. Public Health Nurse..…………………………………….…………………………..24
2. Parish Nurse…......…………………………………………….……………………..25
B. Secondary Prevention……………………………………………………………………25
1. Home Health Nurse..…………………………………………………….…………..26
2. School Nurse………………………………………………………………….……..26
C. Tertiary Prevention………………………………………………………………………27
1. Home Health Nurse..………………………………………………………….……..27
2. Hospice Nurse..……………………….………….………………………………….28
VII. Conclusion…………………………………..……………………………………………28
VIII. References……………………………………………………………………………….30
IX. Appendixes………………………………………………………….………………………..35
A. Epidemiology Triangle for Cystic Fibrosis...……………………………………………36
B. Number of Patients by State in the CF Patient Registry.…………………………….…..37
C. Summary of the CF Foundation’s Patient Registry Data 2006……………..…………...38
D. Population and Prevalence of Patients with CF in EU Countries…...………………...…39
E. Association Between Incidence of Death and Median Household Income…………...…40
F. List of State and National Resources for CF Patients…………………………………...41
Cystic Fibrosis 5
Epidemiology Study of Cystic Fibrosis
Cystic Fibrosis (CF) was discovered as a distinct disease in 1938 (Davis, 2006, p. 475).
Prior to 1938, the symptoms of CF were considered to be part of celiac disease. Autopsies of
deceased and emaciated infants revealed sticky mucus which congested the pancreatic ducts and
other glands throughout the body. The clogged ducts of the pancreas prevented the excretion of
pancreatic enzymes to the small intestine. As a result, the characteristics of the disease were
malabsorption of nutrients and excess fat in the feces (steatorrhea). Initially the malnourishment
was believed to cause lung infections, which lead to lung damaged. Cysts and scar tissue
(fibrosis) developed in the lungs that ultimately caused death to these infants. During a heat wave
in the summer of 1948 Paul di San’t Agnese, a New Yorker pediatrician, noticed a remarkable
increase of sodium and chloride in the sweat of children with CF. This lead to a simple “sweat
test” method (pilocarpine iontophoresis) to diagnose the disease. The defective CF gene was
discovered in the epithelial cells of sweat ducts in 1989 (Davis, 2006, p. 475).
Overview of the problem
Definition
Cystic Fibrosis is an autosomal recessive disease caused by the presence of two recessive
mutant genes on the transmembrane conductance regulator (CFTR). The CFTR is a protein
involved in the transport of chloride ions across cell membranes. The genetic defects of the
CFTR result in abnormal transport and exchange of electrolytes and water into and out of
epithelial cells that produce mucous and secretion in the body. The sweat glands produce
unusually salty sweat and the mucous becomes dense and sticky (National Heart and Blood
Institute [NHLBI], 2008). These alterations lead to common complications in the lungs and the
gastrointestinal tract. The lungs cannot clear the airways of pathogens and become more
Cystic Fibrosis 6
susceptible to respiratory infections. The ducts in the pancreas and the liver become clogged and
the pancreatic digestive enzymes and bile from the gallbladder cannot reach the small intestine to
digest food. The abnormal mucous in the lining of the intestines impedes the absorption of
nutrients. The poor absorption of nutrients causes malnutrition and the failure to thrive (NHLBI,
2008). The CFTR defect is also present in other glands and ducts in the body, such as in the
salivary glands and genitalia. There is no cure and the complications of CF are fatal. Most
patients die during early adulthood. Treatment methods focus on secondary and tertiary
prevention. The only options that the disease carriers have for primary prevention are birth
control to prevent conception or abortion. The CF patients need uninterrupted and costly medical
care throughout their lives. Both the CF patient and their primary care givers, who are usually
their family members, are additionally subject to the impact of countless physical and
psychological stressors. A qualitative investigation of nine families, by Rinaldi Carpenter and
Narsavage (2004), concluded that being faced with the diagnosis of CF for a family member was
a devastating experience that required continuous adjustments to, and confrontation with,
unfamiliar stressors (p. 29).
Impact
On client. The psychosocial impact on the client, in most cases the child diagnosed with
CF, is overwhelming, particularly if the disease is diagnosed later during the child’s
development. When a CF screening is done at birth, specific care for the child can be initiated
early. The child will grow up knowing that he or she has CF and will be more prepared to cope
with the many issues that develop from the disease. Concerns related to self-esteem, autonomy,
and self-reliance will emerge throughout the child’s life-span (James & Ashwill, 2007, p. 309).
Failure to thrive caused by malabsorption may result in growth failure and can also change
Cystic Fibrosis 7
physical appearance (thin extremities and a barrel-chest), which can be embarrassing for the
child. The negative body image and mocking behavior of peers will impact the child’s self-
esteem. Socialization opportunities and freedom are limited because of frequent therapies,
treatment modalities, and hospitalization. Recurring absences from school during times of
disease exacerbations can lead to delayed cognitive development. The exacerbations of the
disease and the risk for infections will isolate the child from their peers. The child’s reduced
activity-level related to undernourishment is another barrier to integration and socialization
(James & Ashwill, 2007, p. 309). The adolescent is often confronted with the mortality of the
disease. The search for self-identity may be disturbed as a result of this. The client might feel
misunderstood and insignificant. The fear of dying may become crushing. Strong emotions and
hopelessness can lead to irritation with the family and support system, and to noncompliance and
upheaval with the medical therapy. The young adult client might feel like they are a burden to
the rest of the family and support system and become even more alienated from society and
friends. The client may experience difficulties in finding a spouse as a result of the fatal course of
the disease and the risk of passing CF on to the offspring. All these issues can lead to interrupted
family processes and depression (James & Ashwill, 2007, p. 319).
On family. The family is exposed to many stressors because of the ongoing treatments
which require constant monitoring and adjustment. It is necessary for the family to allocate all of
their resources, including financial, time, and energy, to the care of the ill family member. The
financial burden of co-payments to the health insurer for treatments and drugs, prescribed annual
cost deductibles, and cost exclusions for pre-existing illness, could force the family into poverty.
The family needs to review their health insurance plan for home healthcare and drug coverage
limits, payment conditions, benefit caps, and premium costs (CFF, 2006a, pp. 1-3). There is
Cystic Fibrosis 8
rarely any “time off” for any family member and the entire family is at risk for social isolation.
This can lead to a situational crisis where the normal coping abilities of the family are
insufficient. Prioritizing and balancing the needs of the family will be difficult. The focus should
not be the care of the CF family member; rather the needs of the CF family member should be
integrated into the activities of the family. The risk for neglect of other family members is
increased by overprotection of the family member with CF (James & Ashwill, 2007, p. 307). The
immense burden of responsibilities in the parenting role can become overwhelming if it is not
shared between both parents. Since the condition and the needs of the ill family member
suddenly can drastically change, all members within the family system have to learn to be
flexible in their expectations and roles (James & Ashwill, 2007, p. 307). Rinaldi Carpenter and
Narsavage (2004) described three theme clusters for the reactions and coping strategies for
affected families: Falling Apart, Pulling Together, and Moving Beyond. When the family finds
out that a child has CF there is the feeling of Falling Apart which includes three subthemes: (1)
The Devastation of Diagnosis, (2) An All-Encompassing Sense of Fear and Isolation, and (3) An
Overwhelming Sense of Guilt and Powerlessness (p. 29). The following stage, Pulling Together,
has two subthemes: (1) The need for Perpetual Vigilance and (2) Developing Lifestyle Adaptions
that Bring a Sense of Normalcy. The subtheme of the third stage, Moving Beyond, helps the
family to find new ways to exist with an “Optimal Unfolding of a New Kind of Consciousness”
(Rinaldi Carpenter & Narsavage, 2004, p. 29-30). Mastering a situational crisis by rearranging
the family structures and obligations often strengthens the family. This will be especially
important at the time of death of the ill family member. The family might experience an
emotional void and feelings of total futility after the ill family member has passed away (James
& Ashwill, 2007, pp. 308-09).
Cystic Fibrosis 9
On society. The integration of the CF client into society has psychosocial and varied
economical and financial factors. Families who have lost their health insurance coverage because
of economic hardship and unemployment, or who have no funds left for co-payments for the
drugs and the extensive treatments, ultimately will need the aid of social welfare systems. Some
families might not have had any insurance and will be completely dependent on federal and state
welfare benefits from the beginning of diagnosis and treatment. In 2003, 26.6 percent of the
population in the United States had government-provided free health insurance, such as Medicare
and Medicaid, and 15.6 percent had no insurance at all (U.S. Census Bureau, 2006, p. 1). This
means that 42.2 percent of the U.S. population had no private or employment-based health
insurance in 2003. The U.S. Census Bureau’s (2006) household economic study for 2001
compared health status and health insurance coverage of a representative sample of 281,113
persons (p. 10). The result of the survey showed that people who considered themselves having a
lower health status had the highest rate of government financed coverage and the lowest private
health insurance coverage (U.S. Census Bureau, 2006, p. 10). School age children with CF will
need adjustments in the school environment to enable them to obtain their education and to
prepare them for the future. Public schools and universities with federal funding are required to
accommodate urgent needs of a CF student, provided that the student has an Individual
Education Plan (IEP) under the Individuals with Disabilities Education Act (IDEA) or a 504 plan
under Section 504 of the Rehabilitation Act of 1973. These accommodations could, for example,
include access to a private bathroom, a private dorm room, disabled parking, and tutor services
when the client is hospitalized (CFF, 2006b, pp. 2-5). The educational institution will have extra
expenditures for these adjustments. All these accommodations that will assist the client with CF
to maintain a realistic standard of living and quality of life will not only have an impact on the
Cystic Fibrosis 10
family’s financial assets; it will have a vast financial impact on the society. An appropriate level
of funds collected through taxation is needed to cover all societal-born expenses of the CF
patient.
Epidemiology Triad
In contrast to the natural history of communicable diseases with distinct periods of
prepathogenesis and pathogenesis, levels of prevention, and multiple causations of diseases, the
epidemiologic concepts for hereditary diseases are slightly different. According to Maurer and
Smith (2005), the factors (agent, host, and environment) that are used to analyze the natural
history of a disease in the epidemiologic triangle have the ability to change the balance of health
(p. 155). When using the epidemiologic triangle to analyze CF it is important to keep in mind
that most host factors are secondary effects of the disease. There is no cure for CF. The patient is
not dying because of the genetic defect: the patient is dying from secondary infections that are
associated with CF.
Agent. The agent determinant of the CF is biologic since the defect genes are inherited. It
has not been exactly determined what mutagen causes the defect of the gene that is responsible
for the transcription of the CFTR protein in CF. Mutations could be caused during copying of a
sequence with bases of the DNA in the genetic material during replication. A spontaneous
mutation occurs on average once in every 10,000,000,000 bases. Other causes of mutagenesis are
viruses, exposure to UV or ionizing radiation, chemicals, such as benzene, carbon tetrachloride,
and vinyl chloride (Bettelheim, Brown, & March, 2004, pp. 636-37). In de novo mutation, the
mutation takes place only in the female ovum or in the male gamete (sperm). These kinds of
mutagens could be indirect physical and chemical agent determinants. It can also occur
immediately following impregnation. De novo mutations are thought to be responsible when
Cystic Fibrosis 11
none of the parents is a carrier of the disease although the child is affected with the disease
(Genetics Home Reference [GHR], 2008). The CF gene is located on chromosome 7, band q31.
The first mutation of the CF gene that was discovered was named ∆F508 and lacks 3 base pairs
in exon 10 accountable to code for phenylalanine at the 508th amino acid location of the CFTR
protein (Shulman, 2005, pp. 205). The defect ∆F508 gene is the most frequently observed
mutation in the Caucasian population of Central and Northern European origin. The majority of
the Caucasian carriers is homozygous or compound heterozygous for only eight mutations. Until
today, around 1000 mutations have been discovered; however, only 13 of these mutations occur
in more than one percent of the CF chromosomes. Clinical presentations among the affected
clients with CF are almost as variable as the number of available mutations (Shulman, 2005, pp.
205-06). The American College of Obstetricians and Gynecologists (ACOG) provides a 25-
mutation standard laboratory screening to detect mutations of the CF gene in Caucasian and other
ethnic couples who have a family history of the disease and are planning to have children
(Shulman, 2005, p. 205). Genetic screening and DNA analysis of prospective parents are
required in prenatal diagnoses of CF, since it is not possible to assess the CFTR protein in the
amniotic fluid or the chorionic villi. There is an important limitation to the prenatal screening.
Mutations that are not included in the 25-mutation panel could be present in the client’s cells,
remain undetected, and provide a false negative result for the test. Therefore, counseling the
couple about the inability to completely rule out a CF mutation is very important (Shulman,
2005, p. 205).
Host. The host determinant of the disease is intrinsic since CF is an inborn disease. The
disease is produced only when two copies of the defect gene are present. If only one parent is a
carrier of the defect gene, the child will not have CF but will have a 50% possibility of being a
Cystic Fibrosis 12
carrier of the defective gene. If both parents are carriers of the defect genes there is a 25%
possibility that the child will have CF, and a 50% possibility that the child will be a carrier of the
defect gene. Other determinant factors for the host, such as demographics, level of health, body
defenses, state of immunity and the human behavior act as indirect host factors during the disease
progress. Age acts indirectly as a host determinant since most patient die of the complications at
young age. Gender also plays a significant role in the occurrence of the disease. Most males born
with CF experience degenerative changes similar to those which occur in the pancreatic ducts in
the vasa deferentia, which cause the ducts to disintegrate. This condition is called congenital
bilateral absence of the vas deferens (CBAVD). Until recently men with CF were considered
infertile. Since the introduction of assisted reproduction and intra-cytoplasmic sperm injection
(ICSI), an invasive method to remove sperms from the testicles of a male person with a syringe
to inject them into a female ovum, many CF affected men have the chance to become
reproductive again without being fertile. Affected couples that would like to use assisted
fertilization need counseling about the risk of having a child with CF (Gazvani & Lewis-Jones,
2006, pp. 268-70). Ethnic background is strongly correlated with CF. The disease is more
concentrated in the ethnicities of Caucasians, especially with Ashkenazi Jewish background. The
goal in the treatment of CF is to maintain the level of health and increase body defenses as long
as possible with adequate nutrition, physiotherapy, exercise, stress management, and by reducing
risks for infections, particularly for respiratory infections caused by Pseudomonas aeruginosa
and Burkholderia cepacia complex (CFF, 2006b, p. 11). Human behavior is the most significant
factor in preventing early exacerbations of CF. Adherence to the numerous therapies, treatments
and medications, as well as avoiding aggravating factors (smoking, recreational drugs, alcohol) is
crucial. The patient should have all recommended immunizations to minimize exposure to
Cystic Fibrosis 13
extrinsic factors that can cause disease exacerbation. Since the CF patient is especially
susceptible to pulmonary complications, regular flu and pneumonia vaccinations are necessary.
Yearly immunization with polyvalent conjugate vaccine against Pseudomonas aeruginosa
significantly reduces the number of CF patients contracting infection and additionally delays the
chronic state of this multiantibiotic-resistant strain (Lang et al., 2004, p. 508).
Environment. There is a triad of determinants in environmental factors of CF: biologic,
physical, and socio-economic. The biologic determinant must be another human being of the
opposite gender for reproduction and procreation of offspring with CF defect genes. As discussed
above in the host section, the biologic determinant is more concentrated among Caucasians and
especially within the Ashkenazi Jewish population. Although the physical environment, or
geographical environment, has no direct boundaries anymore, the highest prevalence of CF is
among the above mentioned ethnicities in middle and northern Europe and the United States,
naturally related to the history of immigration to the United States. Food and drugs are other
biologic entities that will also have an impact on socio-economic considerations. CF patients
need increased caloric intake due to increased metabolism. Their recurrent infections need
extended treatments with special antibiotics and the patient needs daily pancreatic enzyme
medications to be able to digest their food intake. These factors generate high costs and
economic burdens which the family, insurance companies and communities have to deal with. As
long as CF has a considerably low general prevalence it will be difficult to increase awareness
and help through public policy. Physical properties that will have a secondary influence on CF
are: air quality (in- and outdoors), seasons (allergens and heating), and climate (cold and
humidity). These properties have a direct influence on the patient’s pulmonary function. A study
correlating exacerbations of CF with ambient air pollution and socioeconomic status revealed
Cystic Fibrosis 14
that patients with no insurance or government-financed insurance, such as Medicare and
Medicaid, were more likely to have exacerbations, pancreatic insufficiency, and to be colonized
with disease specific pathogens (Goss, Newsom, Schildcrout, Sheppard, & Kaufman, 2004, p.
817).
Literature Review/Statistical Evidence
Although the prevalence of CF in the United States is low compared to many other
diseases, it is considered to be the most common fatal inherited autosomal recessive disease
(Farrell et al., 2008, p. S4). There are 30,000 patients living with CF in the United States and
70,000 patients worldwide (Cystic Fibrosis Foundation [CFF], 2008). Research and development
of new therapies and medications have increased the lifespan of the CF patients during recent
decades. According to the Patient Registry Annual Data Report, published by the Cystic Fibrosis
Foundation in 2007, the median predicted age of survival for CF patients in 2006 was 36.9 years
(CFF, 2007, p. front cover). This is a remarkable increase over the period since the foundation’s
data collection started in 1950. At that time the median predicted survival was only one year
(CFF, 2007, p. front cover). Because the prevalence and incidence of CF are low compared to
other diseases, it is difficult to find pharmaceutical companies that would be willing to invest in
research for cures or medications for CF. The Cystic Fibrosis Foundation Therapeutics Inc.
(CFFT), a nonprofit affiliation of the Cystic Fibrosis Foundation, is advocating about the need
for research among pharmaceutical companies and is currently investing in 15 different
promising projects for drugs (CFF, 2007, p. 6).
International
Until recently it was difficult to accumulate data concerning the worldwide prevalence
and incidence of CF. In 2004, the World Health Organization (WHO) reported that mutations of
Cystic Fibrosis 15
the CFTR gene had been increasingly diagnosed in Latin America, the Middle East, India,
Pakistan, and even in persons with pure African descent (WHO, 2004, p. 1). Although the
incidence of CF in these parts of the world are much lower than in Europe and the United States,
this increased occurrence has changed the perception that CF only occurs in the Caucasian
population or in mixed bloodlines with Caucasians. The World Health Organization reported that
the incidence of CF in the African population in South Africa was 1 in 7,056 births, in
Chile/Latin America was 1 in 4,000 births, and in Bahrain/Middle East was 1 in 5,800 births. The
countries with the lowest incidence reported a wide range of occurrence statistics. India reported
1 case of CF in 40,000-100,000 births and Japan reported 1 case in 100,000-350,000 births
(WHO, 2004, p. 15). Farrell’s (2008) recently published case report, The prevalence of cystic
fibrosis in the European Union, compiles the data from 115 references in 33 European countries.
The data was collected for the year 2004 and the outcome shows great variations within the
European countries. In summary, there were 35,806 CF patients in the EU countries which had a
total population of 486,114,000 (Farrell, 2008, p. 451). The mean prevalence was 0.737 CF
patients per 10,000 people, which is very close to the calculated prevalence in the United States,
0.797 per 10,000 (Farrell, 2008, p. 451). Among the European countries Latvia reported the
lowest prevalence with only 0.104 patients per 10,000 persons. The Republic of Ireland had the
highest prevalence of 2.98 per 10,000 people, closely followed by the United Kingdom with 1.37
patients per 10,000 people (Farrell, 2008, p. 451). The reason for the high concentration
especially in these countries may be related to their geographic isolation, since both Ireland and
the United Kingdom are island states. A complete listing of the prevalence and estimated
incidence of CF in Europe, for the year 2004, can be found in the appendix of this paper.
Cystic Fibrosis 16
National
The yearly incidence rate of CF in the United States is about 1 in 3,500 newborn (Farrell
et al., 2008, p. S4). Approximately 1,000 persons are diagnosed yearly with CF in the United
States (Centers for Disease Control and Prevention [CDC], 2004, p. 1). The ranking of the states
with the highest number of patients in 2006 were: California with 1,915 patients, which equaled
8% of all registered CF patients by the foundation, New York (1,561 or 6.6%), Texas (1,370 or
5.8%), Ohio (1,363 or 5.7%), and Florida (1,092 or 4.6%) (CFF, 2006c). These top ranking states
also have the highest concentration of Jewish populations in the United States. The Cystic
Fibrosis Foundation registered 14 CF patients in Hawai’i in 2006, which equaled only 0.1% of
all registered patients. A complete listing of the CFF patient registry with all the states, Virgin
Islands, and Puerto Rico can be found in the appendix. A study including 23,817 CF patients in
the United States, published in 2003, showed a strong monotonic association between local
household income and mortality rate. The incidence rate in mortality for the lowest income
category ( < $ 20,000) was 90.3 per 10,000 person years. The incidence rate for the highest
income category ( > $ 50,000) was 62.6 per 10,000 person years. This showed that there was a
44% higher incidence risk of death in the lowest income category (O’Connor et al., 2003, p.
e336).
State/Local
The majority of the 31 registered cases of CF in the state of Hawai’i are Caucasian
(77%); only 7 individuals (23%) had Japanese, African American, Hawai’ian, Asian, or mixed
ancestry. (Hawai’i Cystic Fibrosis Newborn Screening Task Force, 2006, p. 14). The total
population estimate of Hawai’i for year 2007 is 1,283,388 (U.S. Census Bureau, 2008). This
means that the prevalence rate of CF in the state of Hawai’i is very low, only 1 in 42,780
Cystic Fibrosis 17
citizens. The yearly incidence rate in Hawai’i is statistically insignificant because of the ethnic
diversity in Hawai’i. Only 26.3% of the total population is Caucasian and consequently belong to
the risk factor group of genetic carriers (U.S. Census Bureau, 2008). Nevertheless, the State
Department of Health decided to include CF in the mandatory State Newborn Screening Panel
(NBS) program effective September 1, 2008 (Hawai’i State Department of Health, 2008a).
Cultural/Ethnic Consideration
Cystic Fibrosis can affect patients of both genders and any ethnic group. The disease is,
however, more prevalent among Caucasians with northern European and Ashkenazi Jewish
ascendants. Throughout the 20th century there have been many controversial debates about the
connection between race and predisposition to specific diseases. Many researchers have opined
that social categories of race have played a minor role in the prediction of certain diseases.
Today’s genomic research suggests anew that social categories of race do include significant
genetic differences (Osagie, 2008, p. 491). There is a significant risk for stigmatization since CF
mainly affects the Caucasian population to a very limited extent, yet significantly affects the
Ashkenazi Jewish population. From this point of view, some authorities may not find it
unimportant to invest in research for a cure or the prevention of CF. On the other hand; the
perception can arise that there is an extraordinary threat with CF in this ethnic group, and that
defective genes will be passed on increasingly faster to the overall population. Altogether, with
CF, there are nine genetic disorders that have a markedly elevated prevalence in the Ashkenazi
Jewish population. One in seven persons is a carrier of defective genes for at least one of these
nine disorders (Strom, 2004, p. 17). The estimated carrier rate of CF among the Ashkenazi Jews
is 1:25 (Weinstein, 2007, P. 50). Since their religion does not allow termination of pregnancies,
the Jewish authorities had to find another solution for this dilemma. Dor Yeshorim, which is an
Cystic Fibrosis 18
organization responsible for genetic testing that follows the Jewish law, was established. Blood
tests from carrier screenings are kept on file confidentially and prospective couples can call the
organization to ask if they are “compatible” for a marriage. The confidentiality of the test results
prevents the individual from being stigmatized; however, the marriages are arranged solely on
the basis of negative test results (Strom, 2004, p. 12). New York, Miami, Chicago, Los Angeles,
and Baltimore are cities with large Jewish populations that perform frequent publicized screening
tests in Jewish community centers synagogues, on college campuses, and even during the Israel
Independence Day celebrations (Weinstein, 2007, pp. 58-59). It is important to keep in mind that
the cause of the high prevalence of CF genetic codes and disease in the Ashkenazi Jewish
population is related to the laws and the religious dogmas that forbid matrimony outside the
congregation and is not because of Jewish ethnicity. Cystic fibrosis is not a Jewish disease.
Some people may have a false sense of security that CF will remain segregated within the Jewish
population. Sensitivity and responsibility are key factors in any discussion about CF’s genetic
relevance to race, as they are in equal protection jurisprudence for everyone who considers racial
characteristics in a medical context (Osagie, 2008, p. 496).
Community Resources
The Internet has rapidly become the primary overall tool for inquiries about information
and resources of any kind. The use of search engines provides consumers with a myriad of web
links to federal, state, and organizational health care resources that can be widely dispersed and
extremely confusing. The websites of the U.S Department of Health and Human Services (HHS,
2008) and the Health Resources and Services Administration (HRSA, 2008) include the most
complete information about governmental grants, medical service delivery, health system
concerns, medical data and statistics, assistance availability, eligibility for benefits, clinical
Cystic Fibrosis 19
practice, and reimbursement policies. Below are a few examples of nationwide and statewide
community resources specifically for CF. A more comprehensive listing of resources including
degrees of prevention can be found in the appendix.
National
The two major national resources that provide primary, secondary, and tertiary
prevention, by means of information, assistance, and affiliated direct care for CF patients, are the
Cystic Fibrosis Foundation (CFF) (www.cff.org) and the Cystic Fibrosis Research, Inc. (CFRI)
(www.cfri.org). Both organizations fund research, provide educational and personal support, and
are the main national institutions in advocating and spreading awareness of cystic fibrosis. The
CFF was founded in 1955 and its mission is to assure “the development of the means to cure and
control cystic fibrosis and to improve the quality of life for those with the disease” (CFF, 2007,
p. 4). CFF is the principal institute dedicated to CF in the United States. The CFF’s consolidated
statement of financial position shows total assets of $301,903,423 in 2007. The total revenue in
2007 of $246,591,350 was mainly achieved by support from the public, special events, pharmacy
services, and investment income (CFF, 2007, pp.39-40). The organization finances 80 chapters
and branch offices, 95 adult CF care programs, and 50 affiliated CF programs, and accredits 115
Care Centers located all over the United States mainland (CFF, 2007, p. 15). In 1988 CFF
established the CF Services Pharmacy (CFS) that specializes in CF drugs and also assists patients
in receiving maximum reimbursements from their health insurance drug plans. The CF Services
Pharmacy provides financial support to patients who cannot afford medications and also sponsors
the Care Centers and chapters of the foundation (CFF, 2007, p.17). The foundation’s Advocacy
Website gives information about policy decisions that affect the CF community. The foundation
advocates and pursues a legislative agenda to increase funding for research toward a cure and
Cystic Fibrosis 20
also to ensure that CF patients have access to care and the latest therapies. The foundation
advocated for the reauthorization of the State Children’s Health Insurance Program (SCHIP),
since an increasing number of CF patients have difficulties covering the costs of care. CFF offers
a legal information hotline that assists CF patients and caregivers with for example; issues
relating to coverage of medications and government benefits (CFF, 2007, pp. 27-29).
The CFRI was founded in 1975 and is an independent, nonprofit volunteer organization
involved in all three degrees of prevention. The organization recruits research participants for
clinical research projects and provides referrals to CF treatment centers on the U.S. mainland. At
annual conferences the organization informs physicians, scientists, health care professionals, CF
patients, and their caregivers about news and recent achievements in the research projects. CFRI
arranges special CF Teen and Adult Retreats, offers support groups, and creates educational
material for the community, such as the Cystic Fibrosis Website Guide and the Cystic Fibrosis
Classroom. These websites include a data base of knowledge for the patients and their
caregivers. CFRI is a strong advocate for the promotion and legislation of newborn screening
programs. Since its establishment in 1975 the organization has raised more than 7.5 million
dollars through personal mail solicitations, grants, and special fundraising events. The above
mentioned resources fully meet the needs for education and support in primary prevention. The
115 CFF Care Centers complete the needs for secondary and tertiary prevention. The financial
support for quality treatments and medications remains the biggest issue and cannot be
guaranteed with the current system of reimbursement.
State/Local
The specialized services for CF patients in Hawai’i are poor. The national CF resources
listed above and in the appendix must suffice for the needs of the 31 CF patients in Hawai'i.
Cystic Fibrosis 21
Tripler Army Medical Center is a CFF accredited Care Center; however it is available only for
families of military personal. There is no other CFF funded Care Center in Hawai'i since the
accreditation criteria require a minimum of 50 patients (Hawai’i Cystic Fibrosis Newborn
Screening Task Force, 2006, p. 16). The health care agencies that are caring for CF patients in
Hawai'i are Tripler Army Medical Center, Kapiolani Medical Center, and Kaiser Permanente
Hospital/Health Care System. The agencies are all on Oahu. The outer islands have no
standardized service centers. All three Oahu agencies have the diagnostic sweat test for CF
available. The management and follow-up of care for CF patients at Kaiser Permanente and
Kapiolani Medical Center are organized by independent visits to each agency’s specialist and
evaluation within each agency. Kaiser Permanente has a genetic counselor available for couples
and pregnant women. Genetic counseling in Kapiolani Medical Center is provided by a
pulmonologist. Tripler Hospital uses the Tripler Genetics Consultation office and a
pulmonologist. Prenatal screening and care is provided by all three agencies plus Queen’s
Medical Center and the Fetal Diagnostic Institute of the Pacific (Hawai’i Cystic Fibrosis
Newborn Screening Task Force, 2006, p. 14). Because the health agencies just listed are not
specialized CF Care Centers, they cannot provide the same quality of care as the specialized care
of the CFF Care Centers at Tripler Hospital or located on the U.S. mainland. Although all three
categories of preventions are provided by the Oahu agencies, they are not as optimal as the care
given by CFF accredited Care Centers. It would be advantageous for CF patients in Hawai'i if the
local health agencies could collaborate to form a collective Hawai’ian CF Care Center.
The Family Health Services Division of the State Department of Health offers a special
program that assists families with coordinating and obtaining services for children who have
chronic health conditions and require specialized medical care. The program named Children
Cystic Fibrosis 22
with Special Health Needs coordinates health and other services, organizes follow-up with
family, physicians, specialists, and other providers, and serves as a resource for information
about community services. Additionally, the organization provides social work and nursing
services, nutrition consultation, arranges Neighbor Island Clinics, and provides limited financial
assistance for families who meet financial requirements. The broad spectrum of the organizations
services meets all three degrees of preventative health measure. The children have to be less than
21 years of age to the eligible for the program (Hawai’i State Department of Health, 2008b).
Healthy People 2010
The ultimate goals of Healthy People 2010 are to “increase quality and healthy life” and
to “eliminate health disparities” (Healthy People, 2008a). There are 467 objectives in this
national framework of goals designed to reduce preventable threats to health. The two health
objectives stated below are representative for CF.
Objective 1-6
“Reduce the proportion of families that experience difficulties or delays in obtaining
health care or do not receive needed care for one or more family members” (Healthy people,
2008b). The target is to reduce this threat from the baseline data of 12% (in 1969) to 7% for
2010. Twelve percent of the U.S. civilian, noninstitutional population stated, among other
reasons, that they could not afford care, or insurance companies would not approve, cover, or pay
for care. The majority of these were families with an income level below or near the poverty
level. When asked about the health insurance status of their family, 27% stated they were
uninsured, 12% were insured with public insurance, and 7% had private insurance.
Hispanic/Latino, American Indian, and Alaska Natives were ethnicities who experienced the
highest difficulties or delays in receiving health care. The Community Health Nurse (CHN)
Cystic Fibrosis 23
could search for alternative funding resources and apply for donations from charitable
organizations to assist the CF family financially.
Objective 6-2
“Reduce the proportion of children and adolescents with disabilities who are reported to
be sad, unhappy, or depressed” (Healthy People, 2008c). The target is to reduce this threat from
the baseline data of 31% of children aged 4 to 11 years with disabilities (in 1997) to 17% for
2010. Thirty-one percent of the U.S. civilian, noninstitutional population stated, among other
reasons, that they had been unhappy, sad, or depressed, or were limited in some way in activities
because of physical, mental, or emotional problems. The majority of these were families with a
poor or near-poor income level. The data for several ethnic groups were considered unreliable.
The available data showed that 32% of the Hispanic/Latino, 31% of the White, and 30% of the
not Hispanic or Latino disabled children stated that they were sad, unhappy, or depressed. The
CHN could help the families and disabled children by making a thorough assessment of the
feelings and strengths of each member within the family unit. The plan of care should use the
existing strengths to improve and increase coping opportunities. The CHN should also develop
appropriate recreational activity plans that could help to reduce the strain and the stress of
ongoing treatments.
Roles of Community Health Nurses
Nurses generally need to know and understand genetics and genetic testing to be able to
care for families and patients with genetic diseases, such as CF. The community health nurse
(CHN) should be knowledgeable about local services for all kinds of patient care in the
community. One role of the CHN is to be a source for information, referrals, and support for the
patients and their caregivers. Therefore, the CHN needs to be aware about genetic disease
Cystic Fibrosis 24
specific community services such as: genetic testing sites, screening programs, and genetic
counseling services (Weinstein, 2007, p. 59). The CHN needs to stay up-to-date with activities in
the community, awareness campaigns, and community support groups for CF patients and
patients with other genetic disorders. The CHN must teach the families and patients about their
choices and evaluate their understanding of the disease in order that they can make informed
decisions. It is important that the CHN remains non-judgmental, objective, and does not impose
ones own opinion on the client. When the client has made an informed decision the CHN accepts
and supports the client’s choice (Weinstein, 2007, p. 59).
Primary Prevention
Primary prevention avoids the development of a disease. Health promotion activities are
primary precautionary actions. Primary prevention for parents that are carriers of the defective
genes is limited to counseling regarding the likelihood of having a child with CF and instruction
about the use of contraception to prevent pregnancy. The defective genes causing cystic fibrosis
are present in all body cells at the time of conception and consequently later at birth. The genetic
tests available to prospective parents can determine if they are carriers of the defect genes that
cause cystic fibrosis. Although screening generally is considered to be secondary prevention,
genetic screening to detect carriers is considered to be primary prevention, since the conception
of an embryo has not yet occurred.
Public health nurse (PHN). The PHN acts as a researcher, an educator, and an advocate
in primary prevention. As a researcher the PHN works in the emerging field of public health
genetics to discover and collect data about mutagens for CF. The PHN applies advances in
human genetics, genomics, and molecular biotechnology that can lead to improved health and
quality of life for the CF patients, and can also hopefully lead to a cure for the disease. The PHN
Cystic Fibrosis 25
works as an educator by compiling data and informing governmental authorities and the public
about the results of research projects. The PHN surveys and assesses the population of affected
CF patients as a whole and advocates their needs in front of governmental policy makers and
legislators.
Parish nurse (PN). The PN acts as a counselor, role model, and educator in primary
prevention. The PN could be either a Jewish or Catholic nurse who is counseling young adults
about genetic carrier testing, and about the probability of giving birth to a child with CF. Patient
education is crucial in achieving informed consent and rational decision-making. Teaching
clients about test result ranges can help them predict their results and be more prepared for the
outcome (National Guideline Clearinghouse, 2008). The PN uses active listening and therapeutic
communication to help affected persons cope with a positive testing outcome. As a role model,
the PN promotes sexual self-control before marriage, follows other religious protocols, and acts
in accordance with the expectations of the religion. As an educator, the PN explains the natural
history of CF and informs affected carriers about their choices using internal and external
resources consistent with the client ethics and based on the best available information. Although
genetic testing provides important information for family planning, it can also cause great
anxiety and may compel an agonizing decision about a pregnancy (National Guideline
Clearinghouse, 2008).
Secondary Prevention
Secondary prevention actions are intended to foster early disease detection. Early
detection increases the opportunities for intervention to prevent the progression and exacerbation
of CF. Prenatal screening of pregnant women is an act of secondary prevention. It is the earliest
opportunity to predict the disease in an unborn fetus. The sweat test, pilocarpine iontophoresis, is
Cystic Fibrosis 26
used for the actual diagnosis of CF, and cannot be done until the newborn baby is two weeks old.
There are genetic tests that can detect some of the CF gene mutations in the fetus. However, the
defective CF genes undergo spontaneous mutations that prevent the tests from detecting all
variations of the disease (NHLBI, 2008). The prenatal tests available for detecting CF are
amniocentesis and chorionic villus biopsy. In amniocentesis, the cells from the amniotic fluid,
surrounding the fetus in the uterus, are tested for cystic fibrosis genes. In a chorionic villus
biopsy, placental tissue cells are removed and tested for the cystic fibrosis genes (Labtestonline,
2006).
Home health nurse (HHN). In secondary prevention the HHN acts as a care provider,
case manager, and educator. The HHN is the actual link and case manager between the patient,
the family, and the collaborative treatment team. A primary responsibility of the home health
nurse in their role as educator is to inform the family about treatment methods and coping skills,
and to teach the family, by performing direct care, how to care for their ill family member.
Rinaldi Carpenter & Narsavage (2004) pictured the intensity of the care of chronic ill patients in
the statement:
Routine therapies that are required of the CF family are rigorous, complex, and time
consuming. Dealing with complex drug and therapy regimens at home can prove to be
very stressful for parents and other family members. Helping families understand the
purpose and effective implementation of therapies, as well as what to expect when living
with a family member who has a chronic disease, can be effective in helping them cope
with the situation. (p. 26)
School nurse (SN). In secondary prevention the SN acts as a care provider, collaborator,
and educator. As a direct care provider, the SN administers medications to the student and
Cystic Fibrosis 27
educates the student about the importance of adherence to their treatments and therapies during
school hours. As direct care provider, the SN provides a safe retreat in the school nurse’s office
if the student becomes overwhelmed and exhausted. The SN monitors nutritional intake and
educates the student about the importance of adequate caloric intake for growth and
development. The SN collaborates with teachers and the principal to balance the student’s
learning process and physical activities with a state of health and capability. The SN educates
teachers and peers about CF, and about how to intervene in case of complications and other
emergency situations.
Tertiary Prevention
Tertiary preventions reduce the negative impact of an advanced disease. The focus of
tertiary prevention is normally on rehabilitation and reducing disease-related exacerbations. In
the later stages of CF, recurring respiratory infections become more frequent. The patient must
spend an increasing amount of time in the hospital because of acute exacerbations. Ongoing
treatments with antibiotics have made many pathogens resistant and more aggressive
medications must be used to control complications. At latter stages of the disease, only a few
patients are fortunate enough to qualify for lung transplantation, however, this still does not cure
the digestive problems of CF. Thus, lifelong intake of pancreatic enzymes must continue. The
success of lung transplantations and the length of survival have only been moderate. Ultimately,
most patients without a lung transplant will suffer and die from a fatal lung infection.
Home health nurse (HHN). In tertiary prevention the HHN acts as a care provider,
advocate, and leader. The HHN provides direct care as above, teaches the family procedures,
manages and coordinates the team-care. The team usually consists of the physician, the
respiratory therapist, the physiotherapist, the home health aide, and the nutritionist. Because of
Cystic Fibrosis 28
the intensity of care at the end of the tertiary prevention stage, the patient may want to stop the
aggressive treatments. It is the responsibility of the HHN to act as the patient’s advocate and
prevent preventable stress to the patient. The family may not accept the patient’s refuse to care;
the HHN may have to act as a leader to help solve the family conflict and to prevent an
escalation of strong emotions. The HHN may also have to advocate for the family toward home
health agencies and insurance companies in financial and reimbursement issues.
Hospice nurse (HN). In tertiary prevention the HN acts as a care provider, a counselor,
and a role model. At the end of the tertiary stage of prevention, the last sic months of life, the
chronic care of the CF patient changes and becomes palliative, more soothing and comforting.
This is the responsibility for the HN. Instead of aggressive medical treatments intended to cure
infections, the direct care of the HN includes interventions that will alleviate the patient’s
symptoms and suffering, such as analgesic and anxiolytic medication. The HN pays more
attention to the patient’s and the family’s psychological, social, and spiritual needs than to the
direct care. The HN acts as a role model for the family by listening to the concerns, accepting
feelings, showing love, touching and holding the patient’s hand. Already before death of the CF
patient, the HN is responsible for the bereavement care of the family. The HN counsels and
prepares the family for the dying family member’s transition from life to death in collaboration
with the family’s clergyman. The HN educates the family about the physical changes during the
transition, and about how important the expression of emotions during the bereavement period is.
Conclusion
The recent advances in genetic screening and testing have created many ethical and moral
issues. The discussions about how far humanity is allowed to manipulate and influence
procreation are controversial. The new, innovative possibilities in genetic testing bring immense
Cystic Fibrosis 29
advantages to fight not only CF, but many other genetic diseases. Research has revealed that CF
gene defects are being more frequently detected among populations that are not considered to
belong to any ethnic risk group. This eases the bad aftertaste of associating genetic testing with
scientific racism. The tests are very expensive and the costs for the tests are not regularly covered
by health insurance companies. Since the prevalence of CF is low in the general population, the
costs of lifelong care for a CF patient are often not taken into consideration. The current health
care system cannot absorb and capture the devastating financial and psychosocial burden for
most of the affected families. Without private wealth most families are brought to financial ruin.
A universal health care system, such as those that exist in many European countries, could
change the current deficient state of health access for CF patients in the United States and would
secure funds for the vast health care expenses of CF patients and their families. Community
Health Nurses must advocate for equity of access to care and use every chance to influence
governmental policy makers and legislature to excel over the own nations borders; to learn from
other countries with effective health care systems how to solve the problem with our own costly
and fractionated health care system. As long as there is no direct cure for CF, therapies and
treatments will be focusing on minimizing the patients’ exacerbations and improving access to
care and the patient’s quality of life. The most important nursing goals for the quality of care are
to help the CF patient and their family to live with the illness and remain healthy as long as
possible by assuring the effectiveness of care and the patient centered orientation for care.
Proficient case management and the collaboration of a multidisciplinary health care team
consisting of physicians, physiotherapists, psychologists, social workers, and community health
nurses will assist the patient and their family to better cope with the multifaceted hardships of
Cystic Fibrosis.
Cystic Fibrosis 30
References
Bettelheim, F. A., Brown, W. H. & March, J. (2004). Introduction to general, organic, and
biochemistry. Belmont, CA: Brooks/Cole-Thomson Learning.
Centers for Disease Control and Prevention. (2004). Newborn screening for cystic fibrosis:
Evaluation of benefits and risks and recommendations for state newborn screening
programs. (DHHS Morbidity and Mortality Weekly Report 54 No. RR-13) Washington,
DC: Government Printing Office. Retrieved September 10, 2008, from CINAHL.
Cystic Fibrosis Foundation. (2006a). Day-to-day: Know your health insurance coverage.
Retrieved September 28, 2008 from http://www.cff.org/UploadedFiles/LivingWithCF/
Insurance/Know%20Your%20Health%20Insurance%2002-06.pdf
Cystic Fibrosis Foundation. (2006b). Day-to-day: School and cf. Retrieved September 28, 2008
from http://www.cff.org/ UploadedFiles/LivingWithCF/AtSchool/SchoolAndCF/ Day
%20to%20Day%20--%20School%20and%20CF%2008-05.pdf
Cystic Fibrosis Foundation. (2006c). Cystic fibrosis foundation patient registry: Annual data
report 2006. Retrieved October 21, 2008 from http://www.cff.org/UploadedFiles/
research/ ClinicalResearch/2006%20Patient%20Registry%20Report.pdf
Cystic Fibrosis Foundation. (2007). Cystic fibrosis foundation 2007 annual report: A passion for
progress. Retrieved September 28, 2008 from http://www.cff.org/UploadedFiles/
aboutCFFoundation/Publications/AnnualReport/2007AnnualReport.pdf
Cystic Fibrosis Foundation. (2008). About cystic fibrosis: What you need to know. Retrieved
October 21, 2008 from http://www.cff.org/AboutCF/
Cystic Fibrosis 31
Davis, P. B. (2006). Centennial review: Cystic fibrosis since 1938. American Journal of
Respiratory and Critical Care Medicine, 173, 475-482. Retrieved September 27, 2008,
from CINAHL.
Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Cutting, G. R.,
Durie, P. R., Legrys, V. A., Massie, J., Parad, R. B., Rock, M. J., & Campbell, P. W. 3rd.
(2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults:
Cystic Fibrosis Foundation consensus report. Journal of Pediatrics, 153(2), S4-14.
Retrieved September 20, 2008, from CINAHL.
Farrell, P. M. (2008). The prevalence of cystic fibrosis in the European Union. Journal of Cystic
Fibrosis, 7, 450-453. Retrieved October 21, 2008, from ELSEVIER.
Gazvani, R., & Lewis-Jones, I. (2006). Cystic fibrosis screening in assisted reproduction.
Current Opinion in Obstetrics & Gynecology, 18(3): 268-272. Retrieved September 27,
2008, from CINAHL.
Genetics Home Reference. (2008). What is a gene mutation and how do mutations occur?
Retrieved September 28, 2008 from http://ghr.nlm.nih.gov/handbook/
mutationsanddisorders/genemutation
Goss, C. H., Newsom, S. A., Schildcrout, J. S., Sheppard, L., & Kaufman, J. D. (2004). Effect of
ambient air pollution on pulmonary exacerbations and lung function in cystic fibrosis.
American Journal of Respiratory and Critical Care Medicine, 169(7), 816-821. Retrieved
September 20, 2008, from CINAHL.
Hawai’i Cystic Fibrosis Newborn Screening Task Force. (2006). Newborn screening for cystic
fibrosis: Report and recommendations. Retrieved October 21, 2008, from
http://hawaii.gov/health/ amily-child-health/genetics/newpdf/CFreport2006.pdf
Cystic Fibrosis 32
Hawai’i State Department of Health. (2008a). Newborn Metabolic Screening Program. Retrieved
October 21, 2008, from http://hawaii.gov/health/family-child-health/genetics/newpdf/
cfprovider.pdf
Hawai’i State Department of Health. (2008b). Children with special health needs. Retrieved
October 26, 2008, from
http://hawaii.gov/health/family-child-health/cshcn/programsandprojects.html
Healthy People 2010. (2008a). What are its goals? Retrieved October, 25, 2008 from http://
www.healthypeople.gov/About/goals.htm
Healthy People 2010. (2008b). Objective 1-6. Retrieved October, 25, 2008 from http://
www.healthypeople.gov/document/html/objectives/01-06.htm
Healthy People 2010. (2008c). Objective 6-2. Retrieved October, 25, 2008 from http://
www.healthypeople.gov/document/html/objectives/06-02.htm
HHS. (2008). United States department of health and human services. Retrieved October, 25,
2008 from http:// www.hhs.gov/
HRSA. (2008). United States health resources and services administration. Retrieved October,
25, 2008 from http:// www.hrsa.gov/
James, S. R. & Ashwill, J. W. (2007). Nursing care of children: Principles and practice. St.
Louis, MO: Saunders/Elsevier.
Labtestonline. (2006). Conditions/diseases: Cystic Fibrosis. Retrieved August 19, 2008, from
http://labtestsonline.org/understanding/conditions/cystic_fibrosis.html
Lang, A. B., Rudeberg, A., Schoni, M. H., Que, J. U., Furer, E., & Schaad, U. B. (2004).
Vaccination of cystic fibrosis patients against Pseudomonas aeruginosa reduces the
Cystic Fibrosis 33
proportion of patients infected and delays time to infection. Pediatric Infectious Disease
Journal. 23(6), 504-510. Retrieved September 17, 2008, from CINAHL.
Maurer, F. A., & Smith, C. M. (2005). Community/public health nursing practice: Health for
families and nursing populations (3rd ed.). St. Louis: Elsevier Saunders.
National Guideline Clearinghouse. (2008a). Cystic fibrosis prenatal screening in genetic
counseling practice: Recommendations of the national society of genetic counselors.
Retrieved October, 25, 2008 from http:// www.guideline.gov/summary/pdf.aspx?
doc_id=8476&stat=1&string=
National Heart Lung and Blood Institute [NHLBI]. (2008). Diseases and conditions index: Cystic
Fibrosis. Retrieved August 19, 2008, from http://www.nhlbi.nih.gov/health/dci/
Diseases/cf/cf_causes.html
O'Connor, G.T., Quinton, H. B., Kneeland, T., Kahn, R., Lever, T., & Maddock, J. (2003)
Median household income and mortality rate in cystic fibrosis. Pediatrics, 111(4):
Supplement: e333-339. Retrieved September 27, 2008, from CINAHL.
Osagie, K. O. (2008). Beyond best practice: Strict scrutiny as a regulatory model for race-
specific medicines. The Journal of Law, Medicine & Ethics, 36(3), 491-497. Retrieved
October 25, 2008, from http://genetics and society.org/downloads/008_Obasogie_JLME.
Rinaldi Carpenter, D, & Narsavage, G. L. (2004). One breath at a time: Living with cystic
fibrosis. Journal of Pediatric Nursing 19(1), 25-32. Retrieved September 10, 2008, from
CINAHL.
Shulman, L. P. (2005). Cystic fibrosis screening. Journal of Midwifery & Women's Health, 50(3),
205-210, 260-1. Retrieved September 13, 2008, from CINAHL
Cystic Fibrosis 34
Strom, C. M. (2004). Population-based carrier screening and prenatal diagnosis. Medical
Laboratory Observer, 36(8), 12-14, 16-17.
U.S. Census Bureau. (2006). Health status, health insurance, and health services utilization:
2001: Household economic studies. Retrieved September 28, 2008 from
http://www.census.gov/ prod/2006pubs/p70-106.pdf
U.S. Census Bureau. (2008). Population finder. Retrieved October 22, 2008 from
http://factfinder. census.gov/servlet/SAFFPopulation?_event=Search&_name=&_state=
04000US15&_county=&_cityTown=&_zip=&_sse=on&_lang=en&pctxt=fph
Weinstein, L. B. (2007). Selected genetic disorders affecting Ashkenazi Jewish families. Family
& Community Health, 30(1), 50-62. Retrieved October 27, 2008 from MEDLINE
WHO - World Health Organization (2004). The molecular genetic epidemiology of cystic
fibrosis. Retrieved October 10, 2008 from http://www.who.int/genomics/publications/
en/HGN_WB_04.02_TOC.pdf
Cystic Fibrosis 35
Appendixes
Cystic Fibrosis 36
Appendix A
Epidemiology Triangle for Cystic Fibrosis
Agent
Host
Environment
CysticFibros
is
Biologic determinant: another human being of opposite sex for procreation. Inadequate nutrition and lack of medications or vaccines.Physical determinant: Geographic concentration in Ireland, UK, and USA, air pollution, cold climate, and distance to Care Center, substandard and/or overcrowded housing. Socio-economic determinants: Poverty, Lack of support, inadequate health care system, lack of access to care, lack of awareness by policy makers and legislators about CF., Lack of advocacy for concerns.
InheritedIntrinsic determinant: CF is inherited, acquired at conception, no cure, life expectancy low, fatality at young age. Affects both gender, Male infertility. Ethnicity: affects mainly Caucasian (Northern European) & Ashkenazi Jewish population, Extrinsic determinants: High susceptibility for respiratory infections. Ongoing aggressive treatments with leads to Abx resistance. Malnutrition due to enzyme deficit and malabsorption. Failure to thrive. Activity intolerance d/t hypoxia and metabolic disturbances. Human behavior:Non-adherence to treatments, smoker or recreational drug user
Biologic determinant: defective genes, spontaneous mutation, viruses causing mutationPhysical determinant: exposure to UV or ionizing radiationChemical determination:Maybe benzene, carbon tetrachloride or vinyl chloride
Cystic Fibrosis 37
Appendix B
Number of Patients by State in the CF Patient Registry Data 2006
Cystic Fibrosis 38
Appendix C
Summary of the CF Foundation’s Patient Registry Data 2006
Who are the patients in the CF Foundation’s Patient Registry?
CF Patients 24,487 Median BMI percentile for patients 2-20 years* 47.1%
Newly diagnosed patients in 2006 874 Median BMI for patients over 21 years 21.2%
Patient diagnosed by NBS (%) 21.6% Respiratory cultures positive for:
Median age at diagnosis 6 mos P. aeruginosa 55.0%
Age range in years 0 – 78 B. cepacia complex 2.9%
Total number of deaths 362 S. aureus 51.5%
Predicted median survival in years 36.9 S. maltophilia 12.6%
Patients 18 years and older 44.6% MRSA 18.9%
Race/Ethnicity: Complications:
Caucasian 94.6% Diabetes (CFRD)/Glucose intolerance 19.5%
Hispanic (black or white) 6.8% Bone disease (patients 18 and older) 16.7%
African American 3.9% Liver disease 10.7%
Males 52.0% Nasal polyps requiring surgery 3.7%
Genotyped 85.6% Transplants in numbers:
Home therapy: Lung -
IV antibiotics 20.9% Bilateral 187
Oxygen 5.2% Lobar-cadaveric 4
Supplemental feeding – tube 10.2% Lobar-living related donor 2
Supplemental feeding – oral only 38.0% Liver - 11
Taking pancreatic enzyme supplements 90.7% Therapies:**
Clinical trial participation number 3,037 TOBI® (tobramycin) 61.8%
FEV1% predicted mean 75.4% Pulmozyme® (rhDNase) 67.8%
Ibuprofen 4.5%
Total pregnancies among women aged 13 to 45 209 Zithromax® (azithromycin) 57.3%
Live births per 100 women age 13 to 45 1.6 Hypertonic Saline 23.2%
* The Centers for Disease Control and Prevention have calculators for Body Mass Index (BMI). The national goal for children with CF ages 2-20 years is 50th BMI percentile. For adults with CF the national goal for weight is a BMI of 23 for males and 22 for females.
** This is the percentage of patients who are eligible for a therapy and had it prescribed at least once in 2006.
Cystic Fibrosis 39
Appendix D
Population and Prevalence of Patients with CF in EU Countries
Cystic Fibrosis 40
Appendix E
Association between Incidence of Death and Median Household Income
Deaths
10095 90.
39085 81.
580 76.
473.6
757065 62.
6605550454035302520151050
<$20K $20-30K
$30-40K
$40-50K
>$50K
Median Household Income
Adjusted incidence of death in 2003 among white CF patients in the United States (per 10,000 person-years of follow-up)
Cystic Fibrosis 41
Appendix F
List of State & National Resources for CF patients
Organization: Prevention: Address Phone/email Website
Hawaii State Department of Health
Primary 1250 Punchbowl Street, · Honolulu, HI 96813
808 586-4400 http://hawaii.gov/health/
Children with Special Health Needs Program
Primary,Secondary,Tertiary
741 Sunset AvenueHonolulu, HI 96816
808 733-9055 http:Hawaii.gov/health/family-child-health/cshsn/programsandprojects.html
Kaiser Medical Center
Primary,Secondary,Tertiary
3288 Moanalua Rd. Honolulu, HI 96816
808 432-0000 http://members.kaiserpermanente.org/kpweb/facilitydir/facility.do?id=100434&rop=HAW#anchor1
Tripler Army Medical Center
Primary,Secondary,Tertiary
1 Jarrett White RoadHonolulu, Hawaii 96859-5000
808 433-6661
808 433-9226
http://www.tamc.amedd.army.mil/information/mapsandphones.html
Kapiolani Medical Center for Women and Children
Primary,Secondary,Tertiary
1319 Punahou StreetHonolulu, Hawaii 96826
808 983-6000 http://www.kapiolani.org/women-and-children/default.aspx
CFF - Cystic Fibrosis Foundation national headquarters
Primary,Secondary,Tertiary
6931 Arlington RoadBethesda, Maryland 20814
(800) FIGHT CF
800 344-4823
www.cff.org
CFRI – Cystic Fibrosis Research, Inc.
Primary,Secondary,Tertiary
Bayside Business Plaza2672 Bayshore Parkway Suite 520Mountain View, CA 940
650 404-9975 http://www.cfri.org/home.html
Cystic Fibrosis Services Pharmacy
Secondary,
Tertiary
6931 Arlington Rd, 2nd floor, Bethesda, MD 20814
800 541-4959 www.CFServicesPharmacy.com
HRSA – Health Resources and Services Administration
Primary,Secondary,Tertiary
5600 Fishers LaneRockville, MD 20857
- http://www.hrsa.gov/
HHS - The U.S. Department of Health and Human Services
Primary 200 Independence Avenue, S.W.Washington, D.C. 20201
202 619-0257
Toll Free: 1-877-696-6775
http://www.hhs.gov/
Cystic Fibrosis 42
Government Information by topic:
Health & Nutrition,Grants & Benefits
Health Insurance
Primary Washington, D.C. - http://www.usa.gov/
http://www.usa.gov/Citizen/Topics/Health.shtml