Quarterly Advocate BCCNS Life Support Network Inside this issue: What’s In a Name 2 The Story on Self Esteem 4 Skeletal Anomalies 6 Life is a Journey 8 Consensus Statement on BCNS 10 Living Life to the Fullest Despite Illness 12 Prepare for Surgery 13 March 2012 January 30th, 2012: Genentech, a mem- ber of the ROCHE group, announced the Erivedge (Vismodegib) capsule was ap- proved by the U.S. Food and Drug Ad- ministration (FDA) for adults with a type of skin cancer called basal cell carcinoma (BCC), that has spread to other parts of the body, that has come back after sur- gery, or that their healthcare provider decides cannot be treated with surgery or radiation. Erivedge is the first FDA approved medicine for people with ad- vanced forms of the most common skin cancer. It is a capsule that is taken orally once-a-day. BCC’s are generally considered curable if the cancer is restricted to a small area of the skin (localized). However, in rare cases lesions can become disfiguring and invade surrounding tissue (locally ad- vanced), or spread to other parts of the body (metastasize). In cases of ad- vanced BCC, the disease cannot be ef- fectively treated with surgery or radia- tion. Advanced BCC often results in se- vere deformity or loss of function of af- fected organs. “Today’s approval provides a new treatment for people with advanced ba- sal cell carcinoma who, until now, had no approved medicine to help shrink disfig- uring or potentially life-threatening le- sions,” said Hal Barron, M.D., Chief Medi- cal Officer & Head, Global Product De- velopment. “We are pleased that in the last 6 months, we have been able to pro- vide two new medicines for different types of advanced skin cancer to people who previously had few or no treatment options.” Erivedge is now available and is distrib- uted through specialty pharmacies. The FDA approval of Erivedge is based on results from ERIVANCE BCC (SHH 4476 g), a pivotal, international, single- arm, multi-center, two-cohort, open- label, phase II study that enrolled 104 patients, with advanced BCC, including locally advanced BCC (71) and meta- static (33). FDA Approves Genentech’s Erivedge People with BCCNS (Gorlin Syndrome) are eligible for this medication due to several criteria: having BCC’s that have reoccurred after sur- gery; are at risk of severe deformity or loss of sensory function; or BCC’s that cannot be treated with surgery or radiation (counter indicated in BCCNS patients). To be considered for this new ther- apy, apply and/or, also need help with determining payment options, contact: ErivedgeAccessSolutions.com or call 888-249-4918. “I can also verify that Genentech, Access Solutions & the pharmacy who will be dispensing the drug, have been extremely attentive and communicative with me via phone. I am very pleased. The drug will arrive Monday!” Facebook Citation by GL Continues on Page 14 Before Erivedge With Erivedge
Transcript
Quarterly Advocate BCC NS L i fe S upp or t N etwork
Inside this issue:
What’s In a Name 2
The Story on
Self Esteem
4
Skeletal Anomalies 6
Life is a Journey 8
Consensus Statement
on BCNS
10
Living Life to the
Fullest Despite Illness
12
Prepare for Surgery 13
March 2012
January 30th, 2012: Genentech, a mem-ber of the ROCHE group, announced the Erivedge (Vismodegib) capsule was ap-proved by the U.S. Food and Drug Ad-ministration (FDA) for adults with a type of skin cancer called basal cell carcinoma (BCC), that has spread to other parts of the body, that has come back after sur-gery, or that their healthcare provider decides cannot be treated with surgery or radiation. Erivedge is the first FDA approved medicine for people with ad-vanced forms of the most common skin cancer. It is a capsule that is taken orally
once-a-day.
BCC’s are generally considered curable if the cancer is restricted to a small area of the skin (localized). However, in rare cases lesions can become disfiguring and invade surrounding tissue (locally ad-vanced), or spread to other parts of the body (metastasize). In cases of ad-vanced BCC, the disease cannot be ef-fectively treated with surgery or radia-tion. Advanced BCC often results in se-vere deformity or loss of function of af-
fected organs.
“Today’s approval provides a new treatment for people with advanced ba-sal cell carcinoma who, until now, had no approved medicine to help shrink disfig-uring or potentially life-threatening le-sions,” said Hal Barron, M.D., Chief Medi-cal Officer & Head, Global Product De-velopment. “We are pleased that in the last 6 months, we have been able to pro-vide two new medicines for different types of advanced skin cancer to people who previously had few or no treatment
options.”
Erivedge is now available and is distrib-
uted through specialty pharmacies.
The FDA approval of Erivedge is based on results from ERIVANCE BCC (SHH 4476 g), a pivotal, international, single-arm, multi-center, two-cohort, open-label, phase II study that enrolled 104 patients, with advanced BCC, including locally advanced BCC (71) and meta-
static (33).
FDA Approves Genentech’s Erivedge
People with BCCNS (Gorlin Syndrome) are eligible for this medication due to several criteria: having BCC’s that have reoccurred after sur-gery; are at risk of severe deformity or loss of sensory function; or BCC’s that cannot be treated with surgery or radiation (counter indicated in BCCNS patients). To be considered for this new ther-apy, apply and/or, also need help with determining payment options, contact: ErivedgeAccessSolutions.com
or call 888-249-4918.
“I can also verify that
Genentech, Access Solutions
& the pharmacy who will be
dispensing the drug, have
been extremely attentive and
communicative with me via
phone. I am very pleased.
The drug will arrive Monday!”
Facebook Citation by GL Continues on Page 14
Before Erivedge
With Erivedge
Quarterly Advocate Page 2
Letter from Director: What’s In A Name? Confusion!
How Do We Feel On the Inside?
FAQ: “What is the difference be-tween Basal Cell Carcinoma Nevus Syndrome, Nevoid Basal Cell Syn-
drome, Gorlin Syndrome, etc.?”
Eponyms: words derived from the name of a person, real or fictional. A medical eponym, therefore, is a word related to medicine, whose
name is derived from a person. No name has been utilized more prolifically than Dr. Robert Gorlin, in describing multi-ple medical conditions. In a 2001radio interview, Dr. Gorlin himself, indicated that he did not like utilizing a person’s name in conjunction with naming a medical condition, which does not help identify the mechanisms. SYNDROMES ~ here, according to Who Named It? are a few: Gorlin’s ~ a congenital syndrome characterized by orofacial and digital defects; syndrome of craniosynostosis, midfacial hy-poplasia, hypertrichosis, and anomalies to the heart, eyes, teeth, and external genitalia. Gorlin-Psaume ~ congenital syndrome characterize by ororfa-cial and digital defects. Gorlin-Holt ~congenital syndrome of tooth, bone, and connec-tive tissue abnormalities of unknown etiology. Goltz-Peterson-Gorlin-Ravits ~ multisystem disorder charac-terized by complex ectodermal & mesodermal dsplasia with os-seous involvement. Gorlin-Pindborg ~ complex heritable malformation syndrome of variable phenotype, characterized by orofacial, genital and mus-culoskeletal abnormalities
Gorlin Vickers ~ familial, autosomnal dominant, syn-drome characterized by multiple mucosal neuromas, medullary carcinoma of the thyroid gland and ass. w/ a marfanoid build. Gorlin Syndrome III ~ particular to dwarfism, dislo-cated lenses, staphloma, glaucoma, mental retarda-tion, etc. Gorlin ~ a syndrome marked mainly by ocular abnor-malities, craniofacial dysmorphism, dental defects, hand & foot malformation, various skeletal defects, and mildly delayed mental development. Goldenhar-Gorlin ~ syndrome of dermoid cysts, au-ricular appendices, asymmetrical malformations of the face, and vertebral abnormalities. Goltz-Gorlin ~ an entirely different syndrome, which predisposes people to ectodermal, mesodermal dys-plasia and osseous involvement OTHER MEDICAL TERMS: Gorlin Cyst a benign dental cyst with ghostly body. (no relationship to BCCNS assoc. keratocystic odon-togenic tumors — KCOT). Gorlin sign ~ ability to touch the tip of the nose w/ the tongue in patients w/ Ehlers-Danlos Syndrome. Confused? Just imagine being a doctor! There is more than enough confusion in the medical world about conditions a person may have, and what the correct diagnosis may be, treatments, etc., w/o con-fusing it even more. Which is why we call it BCC Nevus Syndrome. My best to you, Kristi
“That which we call a rose, by any other name, would smell as sweet.” Romeo & Juliet by W. Shakespeare
Porcupine Boy, an original drawing from Cal (a child of the universe), is
attached to the 3’ x 4’ USA map hanging above the reception desk at the
Network headquarters. 630 numbered stick-pins punctuate cities across
the map, representing affected families in contact w/ the Network, from
1 to 13 in a family. We hear from some of you more often than others
and have developed a real rapport with our members.
Whatever the reason, you may call when the feeling moves you: before
an operation, after a birth, during a crisis, or just to say “Hi!” We have
never spoken with some, except through e-mail or the internet. Please,
give us a call. We are here to help you in your journey with BCCNS . . . on
your good days or bad days, & everything in-between. Collectively, we
can make a difference. Sometimes, members do feel like a pin cushion,
and some days, we feel just marvelous and can forget all the biopsies and
procedures, and just be our inner selves. We welcome your creative ex-
pressions of art, poetry, prose, crafts and horticulture. Thank you!
Porcupine Boy. A simple drawing with
a very profound message and significant
meaning, inspires us.
Page 3 March 2012
FAMILY SUPPORT NEEDED
Please keep the following family members close to
your heart in thought, word, deed & supplication.
EXTRA EXTRA… NEWS FROM AROUND THE GLOBE
The following readers are celebrating birthdays in the month of:
April-Piper Rainen-Dervin, Daley Marshall, George Sweet, Patty Tiesch, John
son, Alan Roth, Jon Johnson, Lisa Lamm, Matt Langemeier, Ashley Stickley
May-Cara Shelley, Stephanie Cox, Michael Massimino, Orit Rindner, Adrianna
Cristaldi, Gina Marie Haugh, Sandy Wood, Michael Getto, Zachary Cox, Devin
Allen, John Wood, Linda Cox, Jennifer Morris
June-Ashley LaRowe, Nick Massimino, Ben McVicker, Jenn Finkbiner, Marjorie
Campbell, Noah Haugh, Hans Tysland, Ronnie Boehm, Christopher Barker, Lynn
Bourke, Sean Griggs, Kevin Powers, April Stickley
“Love me when
I least deserve it,
because that is
when I really
need it.
Swedish Proverb
Congratulations to Dave & Tracy
McVicker (MO) who celebrated
their 25th wedding anniversary
on February 7th.
WELCOME NEW FAMILIES
Please join us in extending a warm welcome to
new family members, here and across the globe.
Bowman Family in Pennsylvania
DiProsper Family in California
Ginty Family in Alabama
Loe Family in Texas
Ludy Family in Wisconsin
Murray Family in Ohio
Novogireevskaya Family in Russia
Pena Family in North Carolina
Wilson Family in Arkansas
Congratulations to
Jason Truitt & Cara
Shelley (IA) on their
recent engagement. Congratulations to Mark & Sarah Korschgen (DE)
who were married in January.
Kyrstin Aderholt
Jillian Affolter
Kyle Carrington
Kyle Chasteen
Jenn Finkbiner
Caiden Laigle
Paul McGoldrick
Nick Mercer
John Petkewicz
Melissa Phillips
Hartley Plyler
Erika Sedlak
Kaylene Sheran
Alice Stephenson
Christopher Stephenson
Bob Tuck
Polly Temple
Jennifer Wells
Quarterly Advocate Page 4
You can't touch it, but it affects
how you feel. You can't see it, but
it's there when you look at yourself
in the mirror. You can't hear it, but
it's there every time you talk about
yourself. What is this important but
mysterious thing? It's your self-
esteem!
What Is Self-Esteem?
To understand self-esteem, it
helps to break the term into 2
words. Let's take a look at the word
esteem (say: ess-teem) first. Es-
teem is a fancy word for thinking
that someone or something is im-
portant or valuing that person or
thing. For example, if you really ad-
mire your friend's dad because he
volunteers at the fire department, it
means you hold him in high es-
teem. And the special trophy for the
most valuable player on a team is
often called an esteemed trophy.
This means the trophy stands for an
important accomplishment.
And self means, well, yourself!
So put the two words together and
it's easier to see what self-esteem
is. It's how much you value yourself
and how important you think you
are. It's how you see yourself and
how you feel about your achieve-
ments.
Self-esteem isn't bragging about
how great you are. It's more like
quietly knowing that you're worth a
lot (priceless, in fact!). It's not
about thinking you're perfect — be-
cause nobody is — but knowing that
you're worthy of being loved and
accepted.
Why Self-Esteem Is Important
Self-esteem isn't like a cool pair
of sneakers that you'd love to have
but don't have to have. A kid needs
to have self-esteem. Good self-
esteem is important because it
THE STORY ON SELF ESTEEM as published on www.kidshealth.org
helps you to hold your head high
and feel proud of yourself and
what you can do. It gives you
the courage to try new things
and the power to believe in
yourself. It lets you respect
yourself, even when you make
mistakes. And when you respect
yourself, adults and other kids
usually respect you, too.
Having good self-esteem is
also the ticket to making good
choices about your mind and
body. If you think you're im-
portant, you'll be less likely to
follow the crowd if your friends
are doing something dumb or
dangerous. If you have good self
-esteem, you know that you're
smart enough to make your own
decisions. You value your safety,
your feelings, your health —
your whole self! Good self-
esteem helps you know that
every part of you is worth caring
for and protecting.
How Kids Get Self-Esteem
Babies don't see themselves
in a good or bad way. They don't
think "I'm great!" when they let
out a big burp or worry "Oh, no,
this diaper makes my legs look
weird!" Instead, people around a
baby help him or her develop
self-esteem. How? By encourag-
ing the baby when he or she
learns to crawl, walk, or talk.
They often say, "Good job. Good
You yourself, as much
as anybody in the entire
universe, deserve your love
and affection. ~Buddha
for you!" When people take good
care of a baby, that also helps
him or her feel lovable and valua-
ble.
As kids get older, they can
have a bigger role in developing
their self-esteem. Achievements
— like getting a good grade on a
test or making the All-Star soccer
team — are things kids can be
proud of. So are having a good
sense of humor or being a good
friend.
A kid's family and other peo-
ple in his or her life — like coach-
es, teammates, and classmates
— also can boost his or her self-
esteem. They can help a child fig-
ure out how to
do things or no-
tice his or her
good qualities.
They can believe
in the kid and
encourage him or
her to try again
when something
doesn't go right
the first time. It's
all part of kids
learning to see themselves in a
positive way, to feel proud of
what they've done, and to be
confident that there's a lot more
they can do.
A Little on Low Self-Esteem
Maybe you know kids with low
self-esteem who don't think very
highly of themselves or seem to
criticize themselves too much. Or
maybe you have low self-esteem
and don't always feel very good
about yourself or think you're im-
portant.
Sometimes a kid will have low
self-esteem if his mother or fa-
ther doesn't encourage him
Page 5 March 2012
enough or if there is a lot of yell-
ing at home. Other times, a kid's
self-esteem can be hurt in the
classroom. A teacher may make a
kid feel dumb or perhaps there is
a bully who says hurtful things.
For some kids, classes at
school can seem so hard that
they can't keep up or get the
grades they'd hoped for. This can
make them feel bad about them-
selves and hurt their self-esteem.
Their self-esteem will improve
when a teacher, tutor, or counse-
lor encourages them, is patient,
and helps them get back on track
with learning. When they start to
do well, their self-esteem will
skyrocket!
And some children have good
self-esteem but then something
happens to change that. For ex-
ample: If a kid moves and
doesn't make friends right away
at the new school, he or she
might start to feel bad.
Kids whose parents divorce
also may find that this can affect
self-esteem. They may feel un-
lovable or to blame for the di-
vorce. A kid who feels too fat or
too thin may start thinking that
means he or she isn't good
enough.
A person who's dealing with
an illness, such as cancer, diabe-
tes, or asthma, might feel differ-
ent and less confident than be-
fore.
Even going through the body
changes of puberty — something
that everybody does — can affect
a kid's self-esteem.
Boosting Your Self-Esteem
Of course it's OK to have ups
and downs in your feelings, but
having low self-esteem isn't OK.
Feeling like you're not important
can make you sad and can keep
you from trying new things. It
can keep you from making friends
or hurt how you do at school.
Having strong self-esteem is
also a very big part of growing
up. As you get older and face
tough decisions — especially un-
der peer pressure — the more
self-esteem you have, the better.
It's important to know you're
worth a lot.
If you think you might have
low self-esteem, try talking to an
adult you trust about it. He or she
may be able to help you come up
with some good ideas for building
your self-esteem.
In the meantime, here are a
few things that you can try to in-
crease your self-esteem:
Make a list of the stuff you're
good at.
It can be anything from draw-
ing or singing to playing a sport
or telling a good joke. If you're
having trouble with your list, ask
your mom or dad to help you with
it. Then add a few things to the
list that you'd like to be good at.
Your mom or dad can help you
plan a way to work on those skills
or talents.
Give yourself three compli-
ments every day.
Don't just say, "I'm so great."
Be specific about something good
about yourself, like, "I was a
good friend to Jill today" or "I did
better on that test than I thought I
would." While you're at it, before
you go to bed every night, list three
things in your day that really made
you happy.
Remember that your body is
your own, no matter what
shape, size, or color it is.
If you are worried about your
weight or size, you can check with
your doctor to make sure that things
are OK. Remind yourself of things
about your body that are cool, like,
"My legs are strong and I can skate really well."
Remember that there are things
about yourself you can't change.
You should accept and love these
things — such as skin color & shoe
size — because they are part of you.
When you hear negative com-
ments in your head, tell yourself
to stop.
When you do this, you take the
power away from the voice inside
that discourages you.
By focusing on the good things you
do and all your great qualities, you
learn to love and accept yourself —
the main ingredients for strong self-
esteem! Even if you've got room for
improvement (and who doesn't?),
realizing that you're valuable and
important helps your self-esteem to
shine.
Quarterly Advocate Page 6
SKELETAL ANOMALIES ASSOCIATED WITH BCCNS Sources: www.wikipedia.com; Syndromes of the Head and Neck, Dr. Robert Gorlin; www.orthoseek.com
large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal
cord.
Kyphoscoliosis occurs in 25-
40% and describes an abnormal curvature of the spine in both a coro-nal and sagittal plane. It is a combi-nation of kyphosis and scoliosis. Ky-phoscoliosis is a musculoskeletal dis-order causing chronic under-ventilation of the lungs and may be one of the major causes of pulmo-
nary hypertension
Sprengel Deformity and/or unu-sual narrow sloping shoulders is described in 10-40%. Sprengel's de-formity is a condition where the scapula (shoulder blade) on one or both sides are underde-veloped (hypoplastic) and abnormally high. It is due to failure of descent of the scapula
In recent past issues of the Quarterly Advocate, we have “highlighted” ovarian fibromas, autism, hearing, vision and other “less common” manifestations. In this issue we will try to high-light some of the associated skele-tal anomalies. Pectus Excavatum or Carina-tum-occurs in 10-25% of BCCNS patients.
Pectus Excavatum (a Latin term meaning hollowed chest) is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or not develop until pu-berty. Pectus excavatum is sometimes considered to be cosmetic; howev-er, depending on the severity, it can impair cardiac and respirato-ry function and cause pain in the chest and back. People with the condition may experience nega-tive psychosocial effects, and avoid activities that expose the chest. Pectus excavatum is sometimes referred to as cobbler's chest,
sunken chest, funnel chest or simply a dent in the chest. Pectus Carinatum, also called pigeon chest, is a deformity of the chest char-acterized by a protru-sion of the sternum and ribs. It is the opposite of pectus exca-
etc.)- occur in 45-60%. Bifid is a rib that divides in two, causing dis-
comfort when compressed.
Spina Bifida Occulta of Cervi-cal or Thoracic Vertebrae occurs in 20%. Spina bifida (Latin: "split spine") is a developmental congen-ital disorder caused by the incom-plete closing of the embryonic neu-ral tube. Some verte-brae overly-ing the spi-nal cord are not fully formed and remain un-fused and open. If the opening is
Page 7 March 2012
during embryonic development from its position in the neck to its normal position in the posterior thorax. It happens usually in girls, and may have a genetic basis in
some instances.
The obvious problem is cosmesis. But there is often also a functional problem. The hypoplastic scapula is usually tethered to the spine and posterior ribs by tight bands and even an omohyoid bone, which re-stricts scapular movements, and
therefore abduction of the arm.
X-rays to determine the severity of the Sprengel's deformity are necessary, as well as to rule out any neck or spinal abnormalities. Tests to rule out visceral abnormali-ties are also important. The child should also be checked for limb length discrepancies and muscle weakness. In mild cases, where cos-mesis is not a major problem, and there is no restriction of shoulder abduction or muscle weakness or
associated problems, regular follow-up is all that is necessary. In more severe cases, surgery can be per-
formed.
Consuming systemic medications often result in developing side effects, whether it is: a non-steroidal anti-inflammatory drug (NSAID) such as aspirin, Celebrex, ibuprofen; post surgical medications, such as anesthesia, narcotic pain re-lievers, steroidal anti-inflammatory drugs; and some of the
new hedgehog signaling inhibitors.
Helpful Hints from Network Members. We asked some of our pro’s to help provide a few tips for coping with side effects from the new Hedgehog Signaling therapeutic drugs. Sheila Lokant, Bob Tuck, Kathlyn Roth, Paul McGol-drick and Stuart Sloane offered home remedies that they learned from their clinical trial investigators and from shared experiences with co-participants. As always, you should consult your physician before introducing any of
these therapies.
TASTE: Taking Cold- EEZE (zinc cold remedy) twice a day, seems to help maintain and replace mineral content, while stimulating taste. Lozenges increase saliva, aide hydration, add zinc and other trace minerals. They are said to help with bolstering the immune system to fend off colds and
reduce the duration of colds in half.
MUSCLE CRAMPS: “Hydrate, hydrate, hydrate”, echoed several participants. Water is the most effective (fresh, with or without ice). Other liquid beverages suggested in-clude: Gatorade; Electrolyte; tonic water (used by those in arid areas to help replenish fluid loss). Avoid excessive amounts at one time, opting for incremental hydration. Consume regular cups of non-caffeinated beverages throughout the day/evening. Caffeinated coffee, tea and certain sodas may aggravate cramping. But if you forgo your coffee or tea, be sure to replace it with equal amounts of fluid, either de-caffeinated or non-caffeinated. There are flavor packs to add to bottled water, which can help increase your desire to drink more frequently. Alcohol in this context is not considered a desirable alternative.
Hydrating before bed and whenever you wake up during the night seems to help relieve the cramping. Keep a glass in the bathroom to remind yourself to drink. The tiny paper
cups (1-2 ozs.) are not ample enough.
The combination of vinegar and honey have long been noted as aides for overcoming dehydration and leg cramps. A tradition of farmers who make hay during the scorching heat of summer, vinegar and honey are natural remedies that seem to have favorable effects. Apple Cider Vinegar Cocktail: Try mixing one to two teaspoons raw apple cider vinegar, one to two teaspoons raw honey, and
eight ounces of water. Drink three times a day.
A pickle-a-day is another home remedy for cramping and dehydration. This suggestion comes from the hills of Ken-tucky. Consuming a sour (dill) pickle a day, adds to your sodium consumption. Is it the crunching of the pickle or its salty brine that takes your mind off of muscle cramps? One Network Member eats a pickle slice in the morning,
another in the afternoon, and one as a midnight snack.
EXERCISE: Regular walking, stretching, and massage,
helps alleviate leg cramps and knots, improve circulation.
TIRED EQUALS REST: Taking naps is not a sign of aging. It is an important opportunity for your body to recover and helps in overcoming fatigue. Power naps (15 to 30 minutes) seem to help. If you are working, try resting during your breaks. Alter your body’s position. Recline, if possible, to
raise your legs above your waist.
HAIR: Head and Shoulders, helps with the scalp itching and helps maintain healthy hair. Using shampoos without harsh chemicals (such as sulfates, dyes and fragrances) aides in the prevention of excessive drying and breakage. Assistance with wigs is provided through:
www.cancercare.org or www.cancer.org
PEARLS: OVERCOMING SIDE EFFECTS OF SYSTEMIC DRUGS
Quarterly Advocate Page 8
LIFE IS A JOURNEY-RAISING A CHILD WITH DISABILITIES Submitted by Lucy Plyler, NC
growth of Hartley’s head. He always made a point to measure her head on our visits and he was able to show me what it looked like on a growth chart and I could then see his reason for
concern.
He referred us to a neurosurgeon and at five months old, she was diagnosed with congenital hydrocephalus and agenesis of the corpus callosum or ACC as it is also referred. The hydrocephalus could be treated, but the brain disorder was an unknown variable. The ACC means there is an absence of the millions of nerves that connect the two hemispheres of the brain that allow each side to communicate. Hartley has a split brain. There is no connection whatsoever. What would this mean for her? Would she be able to learn to
speak? To walk?
This was a difficult time for the whole family. It was without a doubt a time in the valley. Many tears were shed and unanswerable questions asked. Surely there had to be someone to lead us through this difficult time and give us some answers and direction. Because of her medical issues and realizing that our daughter was not developing like other children her age, my husband called several agencies to
find help.
We found a group of professionals that gave us the help and support that we needed. They were so helpful! They gave us a wealth of information and set up a home visit where a nurse explained all their services and also
Let me begin by telling you, that I believe strongly that we all have a reason for being, that we are all on a journey, but at different points on a map. The most recent jaunt of my journey involved conquering many mountains and trudging through many valleys. It all began in March of 1998, when my daughter Hartley was born, a seemingly healthy baby girl. It all seemed so perfect with the
newest addition to our family.
We approached the first mountain when Hartley was just two months old. She faced her first of many hospitalizations. The cute sounding purr of her delicate breathing turned into a rasping struggle to force air into her lungs. We took her to our pediatrician several times and her condition worsened. At her most critical point, he took the painstaking time to listen to her breathe for three hours trying desperately to find an answer. Exasperated, he felt she needed immediate medical attention and rushed her via neonatal ambulance to the nearest hospital,
forty-five minutes away.
That was the longest ride of my life as I thought of the worst case scenarios running through my mind like a slow motion movie. What if it’s a tumor? What if she will not make it? Did I cause this? What have I done? What will I do? Will I be
able to take care of her?
When we arrived at the hospital,
we were met by a medical team asking numerous questions about my pregnancy, the delivery, and the first two months of Hartley’s life. They reviewed her records and ran more tests. They scheduled her for a bronchoscope the next day, in hopes to find some answers. It was a relief to hear a simple diagnosis of bronchial and tracheal Malaysia. Just floppiness of her airway. Laser surgery was performed to tighten her floppy airway. She was in the hospital for eight long days, three of those days she spent in ICU. “What
a relief!” I thought.
On the 8th day, we were ready to leave after taking a required CPR course for infants and being trained on the Apnea Monitor; to alert us of any other breathing difficulties she may have at home. We were waiting for one more visit from the doctor before heading home. When the doctor came by, she made a comment that her head appeared asymmetrical. I did not want to hear about one more thing wrong with my daughter. I dismissed it as the way her hair was growing. Though secretly, I had thought her head was large when she was born, but justified it with the idea that most babies have funny-shaped heads. They eventually “grow” into them. Once we were home, we breathed a sigh of relief thinking how close we
came to losing our little love.
Feelings: What to Expect Every parent is different. But, after a diagnosis of disability, it is common for parents to feel:
* Confused and overwhelmed * Disbelieving or numb * Denial * Shocked There is no right or wrong way to
feel, just allow yourself to deal with
whatever you may be feeling.
Then, on a routine office visit, at four months old, our pediatrician voiced a concern about the rapid
Lucy and Hartley Plyler.
Hartley loves basketball.
She participates in a fun,
church organized, non-
competitive program
“UPWARDS” .
Page 9 March 2012
informed us about Early Intervention Services. It all sounded too good to be true. A Physical Therapist and an Early Interventionist began coming to our home one time a week to work with Hartley and we began to see how far behind she really was compared to her peers. I also came to the realization that my hopes and dreams for my daughter would have to change. I was now hoping that she would one day walk to me or be able to tell me that she loved me. I did not know what the future held for
my precious daughter.
Although it is hard, avoid comparing your child with other children. Every child is an
individual.
When she was 8 mo. old, she began attending a Developmental Day School that was designed to use Early Intervention to help other children with disabilities. I had no idea what this place was, although driving by it every day on my way to work. We quickly began to see improvement in her development and within a year, we realized that Early Intervention seemed to be making a big difference in her young life. Although still lagging behind typically developing children her age, it appeared she was catching up. By 17 months, she was beginning to crawl, still about a year behind developmentally. At the age of establishing some basic vocabulary, she was only saying a few words. It was then that I realized her biggest delay was her speech and I began an active push for her to begin “signing” her words. Incredibly, she picked up on it very quickly and soon her number of “signed” words
outnumbered her spoken words.
At 22 months, Hartley began to walk. All areas in her development seemed to be progressing at an overwhelming rate. At 31 months, she was re-evaluated for her preschool screening. She did so well that she almost did not qualify for
specialized services in preschool. Once again, I saw what a difference
Early Intervention has made.
As we prepared Hartley for entering preschool, most of her signing was dropped and her speech became clearer and took off at an astonishing rate. Within the first month of attending her first year of preschool, she dropped all of her signing and began total verbal communication. “Wow!
Things are looking up!” I thought.
Celebrate your child’s successes and milestones – and focus on positives and progress. Your child might be developing differently from other children but will be reaching her own goals and milestones along the way. There will
be lots of reasons to feel positive.
The first three years of Hartley’s life were difficult, to say the least. Many challenges, much heartache, many tears, but God was there all the time. Sometimes He was walking with us; other times He carried us. Then, in 2007, just when I thought the worst was behind us and we were finally travelling light on a plateau, we encountered yet another obstacle: one huge mountain. She was diagnosed with
Basal Cell Carcinoma Syndrome.
What did this mean? She does not have the gene that protects her delicate skin from the sun. So she is constantly developing basal cell cancers all over the body. She has had more than 250 removed since her diagnosis. We use a topical medicine that is supposed to attack the cancerous cells and leave the good skin alone. Unfortunately, the basal cells are growing faster than we can keep up with. She has hundreds of them. We have to drive three hours from home to see a specialist for her treatment every four to six months. This is not a terminal disease, but one she will
live with unless a cure is found.
She loves the outdoors, but can not enjoy it now. She loves to go to the beach, but we have to go when the sun is going down. People tell me that I am a great mother. That I am dealing with all these adversities with grace and ease. I really feel inadequate. It is Hartley who keeps
me going.
Take time to just enjoy your child without focusing on the disability. In
time, you will get better at doing this.
I can not help but to question God. I do not know His plan. I do not know where He is taking us. I do not know how many more valleys we will travel, or what kind of mountains we still face. But, I do know that He is still with us. Guiding us. Leading us. Carrying us at times when we are too weary. I can tell you that I feel much more equipped to conquer this . . . with confidence and assurance that the other side of the mountain is a reachable and attainable goal. After all, we are all on a journey.
Just at different points on the map.
Anastasia Alpeter, Lucy, Lorrin, Hartley & Charles
Plyer, from North Carolina, during a family
Christmas celebration.
Quarterly Advocate Page 10
CONSENSUS STATEMENT: First International Colloquium on Basal Cell Nevus
Syndrome (BCNS) by Alanna F. Bree & Maulik R. Shah for the BCNS Colloquium Group
The first international colloquium on basal cell nevus syn-drome (BCNS) was held at Saint Louis Univ. School of Medi-cine and supported by the Basal Cell Carcinoma Nevus Syndrome (BCCNS) Life Support Network (www.gorlinsyndrome.org). The foremost goal of the con-ference was to review and revise the prior diagnostic crite-ria and define the surveillance recommendations for affect-ed pediatric and adult patients to allow for early interven-tion. The invited consensus group participants included ge-neticists, dermatologists, orthopedists, neurologists, and den-tal/oral medicine specialists, who treat patients with BCNS or related disorders. This group also included individuals who have a research interest in BCNS and who additional-ly serve on the Medical Advisory Board of the BCCNS Life Support Network. Expert opinion was based on the collec-tive clinical and research experience of the consensus group participants after presentation and review of the previously
published literature regarding diagnosis and treatment of BCNS. A consensus was achieved and agreed upon by open roundtable discussion of the group participants. The consensus statement outlines the proposed diagnostic and management protocols that will hopefully limit morbidity and mortality for affected individuals until more specific
and targeted therapies are widely available.
To receive a full copy of this article which was published
online August 10, 2011, visit www.wileyonlinelibrary.com
How to Cite this Article:
Bree AF, Shah MR for the BCNS Colloquium Group. 2011.
Consensus statement from the first international colloquium on
basal cell nevus syndrome (BCNS).
Am J Med Genet Part A 155:2091-2097.
DIAGNOSTIC PROTOCOL FOR EVALUATION OF PATIENTS WITH SUSPECTED BCCNS
Medical history to include:
Birth history to include: macrocephaly, hydrocephalus, undescended testes, hernia Developmental history to include: achievement of developmental milestones, school performance,
height and weight as compared to siblings Medical/surgical history to include: history/treatment of brain tumor, strabismus, oral cleft repair, dental
extractions or oral surgery, surgical treatment of skin lesions, cardiac problems, infertility, fractures Social history to include: environmental exposure, including radiation therapy, ultraviolet exposure Examination by a medical/clinical geneticist to include: Facial dysmorphology including: macrocephaly, biparietal/frontal bossing, broad nasal root, mandibular
Skeletal exam for pectus anomalies, sprengel deformity, scoliosis Skin exam for pits of soles (especially the arch), palms, web spaces between fingers Inguinal hernia Radiologic exam to include: Panorex of jaw (digital if possible) MRI of brain Additional studies if warranted (digital if possible): PA and lateral skull for ectopic calcification, CXR
for evaluation of bifid ribs, Full PA and lateral spine for scoliosis and vertebral anomalies, long bones for bone cysts, hand film for flame-shaped (Dunnick’s) lucencies of phalanges
Dermatologic exam to include: full skin exam to assess for palmar/plantar pits, basal cell carcinomas (which can be atypical in presentation), milia-like papules in the periorbital and perinasal area, radiation port site if prior radiation, dermoid cysts especially at the web space of the 1st and 2nd fingers
Dental exam to include: digital panorex of the jaw if not previously done, sinus films if symptomatic Cardiology exam to include cardiac ultrasound Gynecology exam to include pelvic ultrasound
Page 11 March 2012
MANAGEMENT PROTOCOL FOR SURVEILLANCE OF PEDIATRIC PATIENTS WITH BCCNS
Baseline MRI of brain with contrast and epilepsy protocol; repeat yearly until 8 years old the discontinue;
repeat sooner if symptomatic
Baseline cardiac ultrasound; repeat if symptomatic
Baseline dermatologic examination; repeat yearly until first BCC; After first BCC, repeat every 6 months or
more frequently as needed
Baseline digital panorex of jaw (as soon as tolerated); repeat yearly until first jaw cysts; After first jaw cyst, repeat every 6 months until no jaw cysts for 2 years or until age 21; Repeat more regularly if needed for
symptoms or occurrence
Baseline spine film at age 1 or at time of diagnosis (digital if possible); repeat if symptomatic; If abnormal,
repeat per scoliosis protocol every 6 months
Pelvis U/S in girls at menarche or age 18; sooner if symptomatic; Repeat if abnormal or symptoms develop
Routine developmental screening with well child visits; if child fails screening or if not meeting milestones, fur-ther developmental assessment and testing is warranted; if school age with difficulty learning in school, cog-
nitive evaluation and testing is warranted
Annual vision, hearing and speech screenings; continue through school age
Baseline ophthalmology evaluation; repeat if symptomatic
Initial psychological evaluation; to establish a relationship for support and counseling; follow-up would be
based on individual recommendations from the initial evaluation
Baseline medical/clinical genetics evaluation; repeat annually to ensure multidisciplinary care recommenda-
tions are being followed
Molecular diagnosis; if necessary to confirm diagnosis
Minimize ionizing radiation exposure and maximize protection; radiographs warranted for evaluation of
valid medical problems; utilize non-ionizing/digital imaging modalities if possible
MANAGEMENT PROTOCOLS FOR SURVEILLANCE OF ADULTS WITH BCCNS
Baseline MRI of brain with contrast and epilepsy protocol if not previously established; for comparison if
symptoms develop in the future; repeated as needed for symptoms
Full skin examination by a dermatologist every 4 mths.; more often if new skin lesions present at each exam
Digital panorex of jaw annually; repeat as needed for symptoms
Medical/clinical genetics evaluation annually; molecular diagnosis if indicated
Genetic counseling at baseline; preconception/prenatal counseling for couples at risk
Psychological evaluation as needed for support and counseling; repeat as individually needed
Neurology evaluation annually if prior medulloblastoma; repeat as needed for symptoms
Obstetrics/gynecology evaluation annually for female patients; repeat as needed for symptoms; pelvic ul-trasound at baseline and if symptomatic; preconception/prenatal counseling for couples at risk; maternal fetal medicine evaluation for at risk pregnancies; assessment of fetus for cardiac fibromas, hydrocephalus
and macrocephaly
Nutritional assessment to include Vitamin A, B, C and D levels on an annual basis
Minimize ionizing radiation exposure and maximize protection; radiographs appropriate for valid medical
problems; utilize non-ionizing/digital imaging modalities if possible
Quarterly Advocate Page 12
Living Life to the Fullest Despite Illness
Submitted by Nick Mercer, Written by Allex Ohler
The following article was written by Allex Ohler,
friend and classmate of Nick Mercer, for their school
newspaper, The Rider Online.
Freshman Nicholas Mercer thinks about the day he
was diagnosed with a rare cancer called Basal Cell
Nevus Carcinoma Syndrome, also known as Gorlin
Syndrome. This cancer causes facial swelling and
can even result in tooth displacement along with jaw
problems. Not wanting any special treatment from
his peers, Mercer isn’t upfront with his disease unless
the topic is brought up.
Mercer, who has suffered with the illness all his
life, has learned ways to deal with the everyday
stress of having a disorder. “I don't want people to
see me any different from what they have to, “ Mer-
cer said.
Although there is no complete way to stop the can-
cer from being in his body, the cancer is not terminal
and can be temporarily treated with surgery. With-
out taking medication, Mercer has surgery about
once every two months. “I’m used to it, most people
go through life not doing what they want to do be-
fore they die, for me I’m going to live my life to the
fullest,” Mercer said.
Other than trying to be careful physically and be-
ing exempt from Physical Education, Mercer can not
be outside for more than one hour without sunscreen.
“I can’t get a tan, so I stay in the shade or play vid-
eo games,” Mercer said.
Although Mercer keeps a positive attitude, he
sometimes feels like he needs a break. “There are
times when I come home from school and I am so
tired. I will go straight to bed and wake up the next
morning at five a.m.,” Mercer said.
Dr. Michale Zide, who specializes in oral maxillo-
facial surgery, became a heavy influence in Mercers
life. Dr Zide reminds Mercer of journalism advisor
Leland Mallett. “ He is like the doctor version of Mr.
Mallett. He is always telling jokes and being funny,”
Mercer said.
One of Mercers friends, freshman Austin Rich, be-
lieves his friend will be just fine and things will be all
right in the end. “I Hope that it will go away and
that everything will be okay, “ Rich said.
Rich thinks there are two ways to help a friend
who has cancer. “Stick beside your friend and re-
member to pray and hope everything will work out,”
Rich said. As far as coping with a friend who has
cancer, Rich has learned bringing it up doesn’t al-
ways help, and doing activities like normal people
with Mercer is the best medicine. “I don’t really think
about it when I’m hanging out with him, he is just like
everybody else. I pretend I don’t know about it, be-
cause it doesn’t affect our friendship,” Rich said.
Mercer believes God gave him cancer to teach
him a valuable lesson and everything happens for a
reason. “I think God is trying to teach me responsi-
bility.” Mercer said. “Everything does happen for a
reason, even if we don’t know why.”
Nick Mercer with Dr. Bhakta
Quarterly Advocate Page 13
PREPARE FOR SURGERY, HEAL FASTER: A GUIDE OF MIND-BODY TECHNIQUES
Book Review by Karen Shabshelowitz, RN, BSN, MA Ed.
Please join us in welcoming Jenny Hershberger to our BCCNS Life Support Network office in Burton, Ohio. Jenny was born and raised in Burton. She has been a free lance graphic designer and photographer for ten years. She also is a soon-to-be published author. Jenny’s skills will be put to good use here at the Network, editing
the newsletter, creating brochures and new educational materials.
Quarterly Advocate Page 14
FDA APPROVES GENENTECH’S ERIVEDGE Continued from Page 1
Patients with locally advanced BCC had lesions that re-occurred after surgery, were not candidates for surgery (inoperable, or for whom surgery would result in sub-stantial deformity), recurred after radiotherapy, or were not candidates for radiotherapy (radiotherapy was con-traindicated or inappropriate). Study participants re-ceived 150 mg. of Erivedge orally, once daily until dis-
ease progression or unacceptable toxicity.
The most common side effects of Erivedge are muscle spasms, hair loss, change in how things taste, weight loss, tiredness, nausea, decreased appetite, constipation, vomiting, and joint aches. Other side effects may include low levels of sodium in the blood, low potassium levels, and a higher than normal blood level, or Urea or other nitrogen compounds in the blood. Patients should tell their healthcare provider what bothers them or what
does not go away.
Please see the full prescribing information for Erivedge, including the boxed WARNING and medication guide, at http://www.Erivedge.com. *Editor’s note: Not all participants experienced all of the
side effects, nor to the same degree.
Roche has also submitted a marketing authorization application (MAA) for Erviedge in the European Union (EU). In order to provide people with advanced BCC, who live outside of the United States access to Erivedge, while Roche pursues marketing authorization world-wide, the company is conducting a Phase II safety study in the EU, and other countries, that is enrolling patients with advanced BCC. For more information, please access http://
www.rochetrials.com.
BCC is the most common type of skin cancer in Europe, Australia and the United States. In advanced BCC, if the
disease is left untreated, or occurs in the same location after surgery or radiotherapy, it may advance further into surrounding areas, such as sensory organs (ears,
nose and eyes), bone, or other tissues.
Depending on the location of the lesion, some cases of ad-vanced BCC can be disfiguring, and treatment with surgery or radiation can lead to the loss of sensory or-gans, and their functions such as eye sight or
hearing.
The hedgehog signaling path-way, plays an important role in regulating proper growth and development in the early stages of life and become less active in adults. Abnormal hedgehog sig-
naling is implicated in more than 90% of BCC cases.
Erivedge is an oral medicine designed to selectively in-hibit abnormal signaling in the hedgehog pathway,
which is an underlying molecular driver, of BCC.
Roche and Genentech are also evaluating Erivedge in a Phase II trial in people with operable forms of BCC. Please go to clinicaltrials.gov if you would like to partici-pate in any of the skin cancer studies, trials available
and currently enrolling.
Do you ever wonder how pharmaceutical
companies come up with drug names?
Erivedge, the new hedgehog inhibitor dis-
tributed by Genentech, for example, got
its name ERI (Latin for Hedgehog) V
(visionary) EDGE (hedgehog pathway)
“Hedgehog” in other languages
YOZH (Russian)
PINDSVIN (Danish)
HERISSON (French)
ERIZO (Spanish)
IGEL (German)
HARI-NEZUMI (Japanese)
Help Us Name Our New Mascot!!
Ladies and gentlemen, boys and girls: We are pleased to present to you our new
BCCNS Life Support Network mascot… uh, what is its name?
Hey folks, we have developed a new logo and mascot for BCCNS Life Support Network. We would like your help in naming him or her. Send us your recommen-dations. You can E-mail your suggestion to [email protected] (subject line: Mascot Name). Mail your recommendation to us at P.O. Box 321; Burton, OH 44021. Call us with your suggestion, (440)834-0011. Or, post your suggestion on our
Facebook page “Basal Cell Carcinoma Nevus Syndrome Life Support Network’. ® Copyright
Quarterly Advocate Page 15
Our deepest sympathies go out to the Massimino family (Chicago Area) as they mourn the loss of Nancy’s
father, Thomas Della Franco, Jr.
The Network is humbled that in their moment of grief, the Massimino & Della Franco families thought of our or-ganization when the named BCCNS Life Support Net-
work as the beneficiary of memorial donations.
Contributions have totaled in excess of $2,000 which will be used to support the ongoing educational pro-grams of this Network. Our sincere appreciation to both the Massimino and Della Franco families and the follow-ing list of donors. Nancy shared with us: “My Dad was a great guy and it warms the hearts of me and my siblings to know that good is being done in our Dad’s memory. God bless you all for the good you do.” He will be
dearly missed.
Michele Anthony
Paul & Virginia Bosschem
Ian & Lori Brooks
John & Margaret Buleza
Gerald & Diane Coulter
Antoinette Della Franco
Michael & Kathleen Fiore
Robert & Marilyn Flowers
Frontenac Company LLC
Marian Gavron
Leonard Goldheim
Johnsonite
Albert & Lucille Kuhn
Elizabeth Marquardt
Roland & Jane Massimino
James McClain
Mills Family
Anthony & Nancy Mirarchi
The Moritz Family-
Moritz Embroidery Works
Linda Protesto
William & Karen Rogers
William & Maureen Schoefield
Brenda Shaver
Karen Sutter
Joan Trevisan
Kenneth & Agnes Vetere
Dagmar Westiner
Deborah Willig-
Willig, Williams & Davidson
Death is nothing at all:
I have only slipped away into the next room.
I am I . . . you are you;
Whatever we were to each other, that we are still.
Call me by my old familiar name.
Speak to me in the easy way which you always used.
Put no difference in your tone;
Wear no forced air or solemnity or sorrow.
Laugh as we always laughed at the little jokes we enjoyed together.
Play, smile, think of me, pray for me.
Why should I be out of mind because I am out of site?
I am but waiting for you, for an interval,
somewhere very near, just around the corner.
All is well.
~ Canon Henry Scott Holland (1847-1918), England
In Loving Memory of Thomas Della Franco Jr.
Thomas Della Franco Jr.
Editor’s note: If your family would like to honor the memory of a loved one by donating to BCCNS LSN, please contact the organization. All donations made are acknowledged to both the donor and
the family of the person being honored.
BCC NE VU S SY NDR OME; BA SA L IOMA ; GORL IN - GOLT Z ; GOR L IN SYN DR OM E ; NB CS ;
GLOB A L N E TW OR K
Administrator Sheila LaRosa
Board of Trustees-2011 Kristi Schmitt Burr Ohio Director & Trustee William Ginn Ohio
President Kathlyn Roth Indiana
Secretary Ellen McCabe Minnesota Treasurer Bryant Bradley Texas Julie Breneiser Pennsylvania Michael Rainen Kansas Alan Roth Indiana Cindy Shelley Iowa Global Outreach Patricia Pearsell Canada Daniel Albers Germany Anna Hickey Australia
Medical Advisory Board Members
William Lynch, MD Ohio Allen Bale, MD Connecticut Sherri Bale, PhD Maryland David Bickers, MD New York Andrzej Dlugosz, MD Michigan Deborah Driscoll, MD Pennsylvania Ervin Epstein, Jr., MD California Jorge Garcia-Zuazaga, MD Ohio James Hanna, DDS Ohio Joseph Helman, DMD Michigan John Hellstein, DDS Iowa Missale Mesfin, MD Ohio
Anthony Oro, MD PhD California Maulik Shah, MD PhD Florida
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