2012 Fall

The Quarterly Advocate
Autumn 2012
BCCNS Life Support Network
The Brindley Family of Alabama
and Their Life with Nevoid Basal Cell
Carcinoma Syndrome (NBCCS) By Joe Brindley
Regarding Nevoid Basal Cell Carcinoma Syndrome
(NBCCS), I can only talk about my family. I know
that my grandmother on my mother’s side had
NBCCS. She passed it on to two of her six children. My mother and one of her brothers, my Uncle
Dewey Yeager, inherited NBCCS.
the latest methods of treatment was at Mayo’s
Clinic in Minnesota. I talked to the clinic and my
mother, sister and I started going up there once
every three months or so. In 1985, we finally
got a dermatologist in Cullman. The three of us
started seeing him.
...Continue Page 6
My Uncle Dewey married, but never had children.
He died when he was 85 years old, in 1986. He
had as terrible time with NBCCS as anyone. He
eventually lost his entire right ear. My Uncle Dewey
had so much surgery on his face that the scar tissue around his right eye caused him so much pain
that he had his eye removed.
My mother had six children (three boys and three
girls). My sister Nell (the third child) and I (the sixth
child) carry the family NBCCS problem on. I was
born in 1931. My first basal cells showed up when I
was 30 years old. My sister Nell was 17 years older
than me. By the time I had my first BCCs, I had
witnessed my mother, sister and uncle go through a
lot of whatever type of treatment and removal was
available at the time.
The doctors used an electric needle, simple
excision and some type of radiation therapy
burning. We did not have a dermatologist
where we all lived in our hometown of Cullman,
Alabama. We had to go to Birmingham or Atlanta
for treatment. Around 1960, we somehow heard
that one of the best, most experienced doctors with
Joe and his wife Fran Brindley. Joe was among those
interviewed by ABC News, regarding Vismodegib.
See the article on page 14.
Who Carries the Torch?
Letter from the Director, Kristi Schmitt Burr
Watching the 2012 Olympics, I was amazed at the fellowship, the focus on excellence, all the while overcoming obstacles. Some were physical, others are cultural,
some less tangible. Speaking with a research fellow recently, he inquired what we
do. Apparently he thought all we do here at the Network office is sit around eating
bonbons and doing our nails! I can assure you, dear reader, that this office is never
dull, continually stretched for time to accomplish all the tall and small tasks, meet
deadlines, and carrying forth your message to a global health community.
On any given day, we may be typesetting the newsletter, reworking rough draft
proofs, checking content, waiting for promised articles, sending our reminders, fitting graphics and design. It is an endurance test.
The phone rings. An impassioned mother in a Neonatal Intensive Care Unit, who
just learned of her child’s diagnosis, needs to speak with a live person who can understand; or a father accompanying his son to an oral surgery calls to be reassured
that this surgery is indeed “standard of care” and necessary.
The venue for an upcoming conference rings to inquire about the menu . . . they
need a deposit, 9 mo. prior to the event. Sheila walks in with The Un-ending To Do
List which never gets completely caught up, for as soon as one event is over, 3
more are still in the works. We live on a promise and a string; your promise to help
support the scores of activities; and the string which says: be frugal, pinch pennies
and live on a shoestring.
At an FDA conference, in Wash. D.C., we shared the BCCNS experience with patient representatives of other areas of disease, such as brain cancer, obesity, lung
cancer. Sheila attended One Voice Against Cancer, as a representative of AAD and
the Coalition of Skin Disease.
Jenny created several invitations with multiple edits and proofs for the upcoming
BCCNS Autumn Classic Benefit; the member regional meeting in Ohio; dinners at
the event; a proof of the upcoming Annual Fund Drive. Two newsletters under her
belt, it should get easier soon.
Your unmet needs were raised in all aspects of our work, with researchers, surgeons, nurses, hospice centers. Training and compassionate care can never be
emphasized enough.
...Continue Page 3
Contents...
Medical Advisory Board
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)
Jean Tang, MD PhD (California)
Administrator
Sheila LaRosa
Global Outreach
Australian Gorlin Syndrome Mutual Support
Group (AGSMSG)
vicnet.net.au/~gorlinsyndromesupport
BCCNS Life Support Network Canada
bccnscanada@hotmail.ca
The Brindley Family of Alabama and Their Life with
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) 1
Letter from Executive Director 2
www.twitter.com/bccns
Meet Ric Jones 3
SibShops 4
www.fb.com/bccns
A Great Friend 5
Join our Facebook group
Ask a Doctor 6
“BCCNS Life Support Network”
Michigan Regional Family Meeting 8-9
Gorlin Syndrome 10
Cancer Patients Find Comfort Online 12
New Cancer Drug Gives Patients with Rare Skin
Cancer New Hope 14
Board of Trustees
Kristi Schmitt Burr (Ohio), Director
William Ginn (Ohio), President
Kathlyn Roth (Indiana), Secretary
Ellen McCabe (Minnesota), Treasurer
Bryant Bradley (Texas), Past President
Julie Breneiser (Pennsylvania)
Ric Jones (Canada)
Michael Rainen (Kansas)
Alan Roth (Indiana)
Goltz e.V. (Germany)
www.shg-basaliome.de
Gorlin Syndrome Group (UK)
www.gorlingroup.org
Contact Us
info@bccns.org • (440) 834-0011
PO Box 321•Burton, OH 44021•USA
www.BCCNS.org
The contents of this publication are for
educational purposes only and do not
provide medical nor professional advice.
Newsletter Designed by JHersh.com
Raising Awareness and Finding a Cure, You are Not Alone
Birthdays
October
Sharon Griggs
Shelly MacDonald
Regan Brant
Andrea Mankowski
David Reilly
Lance Davies
Abby Michalowski
Nina Bradley
Kristen Neal
Brian Chupka
Joshua Ford
Layna Taylor
Paula Caruso
Chris Brownhill
Rocki Finkbiner
Mike Michalowski
Tim Pelman
Linda Langemeier
November
Emilio Valdez
JT Harrison
Cheyenne Burton
Katelyn Lamm
Family Support
Cora Adkins
Matt Barrett
Ethan Birch
Kyle Carrington
Bud Caruso
Jerry Dunietz
Jennifer Dunn
Addie Edwards
Brittany Everts
Lorraine Finnerty
Nick Mercer
John Petkiewicz
Hartley Plyler
Kathy Rainen
Polly Temple
Bob Tuck
Jennifer Wells
New Families
Adkins Family in Wisconsin
Broome Family in Canada
Caldwell Family in Florida
Campbell Family in Georgia
Conley Family in Colorado
Gray Family in Virginia
Hendry Family in Canada
Keim Family in California
Llobet Family In Maryland
Lock Family in Georgia
Lamm Family in British Columbia
MacDonald Family in Connecticut
McCready Family in North Carolina
Moore Family in Kentucky
Murphy Family in Florida
Osantowski Family in Michigan
Ramos Family in Illinois
Rykert Family in California
Stolze Family in Georgia
Williamson Family in England
Quarterly Advocate, Autumn 2012
News From Around the Globe
Sammy Bourke
Anna Hickey
Kerry Burton
Teresa Sweet
Janessa Gaspinski
Norman Rigby
Jillian Affolter
Kayla Marine
Jennifer Wells
Joan Boes
Jill Noviski
Emily Sterling
Brittany Meck
Julia Wood
Trevor Chupka
Rebecca Harrison
Christine Powell
Sarah Neimeister
Amy Ibuaka
December
Andrew Chupka
Jennifer Dunn
Vincent Chupka
Joey Neimeister
Connie Phillips
Who Carries the Torch
Continued from Page 2
This summer, when we generally
would be home working in the
garden in the evening, we traveled to: IL., Switzerland, MI., FL.,
D.C., Canada, sharing work load,
examining mission, time constraints. It is not a race, but the
demands are great. We referred
18 people to specialists; corresponded in writing, via e-mail,
scores on Facebook and oodles
via phone, fulfilled 300 requests of
people this month, with concerns
about everything from what codes
to use for KCOTs, how to alleviate
muscle cramps.
Through it all, our focus is you
. . . whether you are a person
with the syndrome, the attending
physician, devoted caregiver, or
concerned relative, each trying to
understand the complexities of this
invasive condition. Your concerns
are valid; your fears are heartfelt.
Our blood is just as red; the scalpel cuts just as deep; our hopes
just as real as anyone with a life
threatening condition; and they
are no more important than you
are! Who carries the torch, makes
the mark, clears the jumps, and
crosses the finish line, representing you? Make it your business to
become proactive and help others
find the answers to their journey
with BCCNS that they so richly
deserve. Spread the word, “We
Are Not Alone!” Pass the torch
. . . forward!
Maureen Swierupski
Katrina Johnson
Pamela Allen
John Petkiewicz
Mackenzie MacDonald
Maria Michalowski
Zack Powers
Dan Neimeister
Buck Douglas
Justin Ford
Bill Ginn
Sheila LaRosa
Ric Jones
Our New Board of
Trustees Member
Rick Jones is a selfemployed consultant, from Ontario,
Canada. While he is
a permanent resident
of Canada, he is a
citizen of the USA.
Ric holds a Master
of Divinity (Unitarian
Universalist) from
Meadville Lombard Theological School; a
Master of Arts focused on Cross-Cultural
Training and Development from Oklahoma
State University; and a Bachelor of Arts focused on Communication/Business Administration from East Central University. He
is certified in Advanced Internal Auditing for
ISO19011; 2002 and ISO16949; 2002.
As a consultant, Ric has created a strategic marketing program for a treatment
foster care agency. He has experience in
facilitating conflict transformation, communications, and problem solving courses.
He has managed multi-million dollar contracts for the Department of Defense.
Ric is an analytical thinker who works
well both independently and in a team
environment. Open to new ideas, flexible,
pragmatic, and adaptive, he is energetic
and highly motivated. He prides himself
in being a result-oriented problem solver
with demonstrated success in managing complex problems, and a willingness
to take the initiative and set the pace for
performance through personal example.
Welcome Ric!
What are Sibshops? For the adults who run them
and for the agencies that sponsor them, Sibshops are
evidence of their loving concern for the family member
who will have the longest-lasting relationship with a
person who has a disability. However, for the kids who
attend them, Sibshops are pedal-to-the-metal events
where they will meet other sibs (usually for the first
time), have fun, laugh, talk about the good and not-sogood parts of having a sib with special needs, play some
great games, learn something about the services their
brothers and sister receive, and have some more fun.
Are Sibshops a form of therapy? Sibshops may be
“therapeutic” for kids to attend, but they’re not therapy.
Sibshops takes a wellness perspective. They’re a
celebration of the many lifelong contributions made by
brothers and sisters of people with special health and
developmental needs.
Who attends Sibshops? Sibs, of course! Most
Sibshops are for siblings of kids with developmental
concerns. Increasingly, Sibshops are being offered
for brothers and sisters of kids with health concerns
(often at children’s hospitals) and we’re beginning to
see Sibshops emerge for sibs of kids with mental health
concerns. While Sibshops were developed for sibs in
the 8-13 year-old age range, Sibshops (depending on
the community) are being offered for sibs as young as
six and for teens as well.
Who sponsors Sibshops? A wide range of agencies
sponsor Sibshops: early intervention centers, school
districts, children’s hospitals, chapters of the Arc, Easter
Seals programs, autism societies, Down syndrome
groups, developmental disabilities councils, Jewish
community centers, churches, parks and recreation
programs, etc. Often, local agencies work with other
like-minded agencies to cosponsor one Sibshop for all
the brothers and sisters in a given community.
Who facilitates Sibshops? We like to have both
family members and service providers as a part of the
Sibshop leadership. Parents are often the driving force
in getting a Sibshop started, but they are not usually
the best people to run the Sibshops their own children
attend. Still, there is plenty of behind-the-scenes work
for parents to do to support a Sibshop effort. We very
much like having adult sibs as Sibshop facilitators-and adult sibs tell us that they get much out of running
the program. The facilitator who is a service provider
will know about the special needs represented in the
group and about services available in the community.
Regardless of whether the facilitator is a family
member or service provider, we seek certain qualities
in a good Sibshop facilitator. We want them to truly
enjoy the company of kids and have had experience
working with kids; to be especially good listeners; and
to have the ability to convey a sense of joy, wonder,
and fun.
What is the optimal number for a Sibshop? We
like somewhere between a dozen and twenty kids, but
there are successful Sibshop programs where there
are as few as five participants.
How do I start a Sibshop in my community? It
begins with a phone call to the Sibling Support
Project at 206-297-6368. We’ll discuss your interests,
possibilities and the expectations we have of sibling
programs that call themselves “Sibshops.” There is no
fee to become a Sibshop, but agencies must register
their program and agree to the Sibshop Standards
of Practice. The Sibshop Standards help assure that
when parents send their children to a program that
calls itself a “Sibshop” it is a program that reflects the
goals and values of the Sibshop model.
Do you have other questions about Sibshops? If
so, please write—or better yet, call us. We’d be happy
to answer any questions you may have. You’ll find our
contact information below. 3
Don Meyer
Director, Sibling Support Project
A Kindering Center program
6512 23rd Ave NW, #322
Seattle, WA 98117 USA
206-297-6368
donmeyer@siblingsupport.org
Website: http://www.siblingsupport.org
Training calendar: http://plus.calendars.net/sibshop
Bookstore: http://astore.amazon.com/thesibsuppro-20
Sibling Stories blog: http://siblingstories.blogspot.com/
Raising Awareness and Finding a Cure, You are Not Alone
A Great Friend
Submitted by Andy Tiesch of “The Amigos”
I have a great friend, who is a single mother of an
awesome 17 year old daughter. The mom worked for me
14 years ago. We have remained friends since then.
This week they came to visit me and we went to the
county fair to see Josh Turner in concert. Throughout
the day, we spent hours just catching up on work, our
personal lives, and the world in general.
As the concert came to an end that evening, we walked
to my car. With 8,000+ people leaving all at once, we
sat for a while waiting to get out. The daughter, Nikky,
sat quietly and politely in the back seat and we all talked
about the day’s events.
Andy Tiesch
with his
wife Patty
at one of
our regional
meetings in
Ohio.
scars on his face, yet not being embarrassed to go out
in public, or having fear of what others would say, is
truly amazing and life changing.
Then the topic came up, “So how’s your treatment
going?” I explained that I was just waiting for the call to
set up for the Eviredge study, and was very optimistic
for good results. Nikky is going to be a high school
senior this year and has aspirations of going to college
at Loyola in Chicago or the University of Michigan in Ann
Arbor next fall. I knew that she wanted to go into the
medical field, but I did not realize at what level until she
sent me a message on Facebook, after they returned
home. Here is just one of the letters she will be sending
to prospective schools for admission:
“I believe that with great doctors and nurses, people who
have critical and life threatening disorders/problems,
will learn to be optimistic and live their life without
fear-like this man. I want to be that one doctor or nurse
who can change a person’s whole aspect of the world. I
want to assure them that there is hope, and we will try
the best we can to demolish the problem that they have. I
want people to smile, laugh, and love life; like the man
I know does. I do not want people with cancer, having
fear, regret or a life full of hate.
“During my seventeen years of living, I have experienced desirable and awful things. Many of which
have made me who I am today. Many of these things
that I have encountered, have caused me to want
more in life, to expand not only my knowledge, but
my horizons. I believe one of the most influential
experiences that I have come across, that has shaped
my choice of career, would be one of my mom’s best
friends. He’s been struggling with severe skin cancer
for a while now, and I have been around him enough
to witness his aspect on his life. He intrigued me to
want to change someone’s life, so I picked the medical
field as my number one priority after high school. It
has become my ultimate dream.
“They should still be able to enjoy doing things and
living life, even with the cancer. They should not
make cancer a burden on their life, they should still
continue to live life and enjoy themselves. I love
watching people smile once I help them. I would love to
work in the medical field and make dozens of people
smile each day, no matter what they are going through
or what phase of cancer they happen to have. I want to
let them know that I care about them and that I want
only the best treatment possible for them.
“This man has suffered, and went through hundreds
of trial treatments, yet he never complains about
his cancer. He never once says how he hates his life,
or how he is so unhappy. He is always optimistic
and is happy to live his life, no matter how many
scars he has from skin cancer. He is also one of the
most optimistic people I have met. He is constantly
enjoying life and smiling. He still has his down
days, however he is not a pessimistic person,
constantly angry or hateful. Watching him have
Quarterly Advocate, Autumn 2012
“I believe this man has ultimately molded my
career choice with his presence and charisma. He
demonstrates what amazing doctors and nurses can
do for patients with life threatening problems. I want
to be a doctor who changes patients’ futures forever, in
a positive light.”
When I read this I broke down crying. Not because of my
situation, but that I had made a positive impact on this
young person and her desire to help others when she
DOES BECOME A DOCTOR. There is hope in the youth
like Nikky that there will be a future generation in the
medical field that will genuinely care for patients with our
gift. I just had to share this HAPPY STORY with you all. 3
Ask a Doctor
Q.
A.
Can Efudex cause flu-like
symptoms? Can it be used to treat a
pool of small BCCs?
Efudex, also known as topical 5fluorouracil, is a cream that can be
used for the treatment of basal cell
carcinoma (BCC). It is a topical chemotherapy
drug that interferes with the production of DNA.
It is absorbed by skin cancer cells due to the high
rates of division.
It is most notably used for treatment of actinic
keratoses, but can be used for select basal cell
carcinomas. It is FDA-approved for the treatment
of superficial BCCs on low risk sites, such as the
trunk, arms and legs. For these lesions, the cure
rate is 93%. However, deeply invasive BCCs,
aggressive subtypes, or even superficial BCCs
extending down hair follicles do not respond well
to this treatment. In BCNS patients, it may slow
or prevent the development of new lesions and
can sometimes be a helpful added treatment.
The side effects of 5-fluorouracil include pain,
burning, itching and swelling in over 30% of
patients. However, the desired clinical endpoint
is irritation, which shows the medication
is working against the atypical cells. These
symptoms resolve after the treatment is
stopped. In very rare cases, patients can develop
flu-like symptoms, particularly if applying the
medication to large areas at a time. This can be
prevented by only treating smaller areas during
each course of treatment (ie, forehead/scalp,
cheeks/temples). If the symptoms do develop,
they resolve after stopping medication.
In general, Efudex can be an alternative to
surgery for BCC in select cases. Particularly
in patients with BCNS, it can be useful to
discuss whether this medication may be used in
combination with surgery and other treatments.
Answered by
Missale Mesfin, M.D.
from the
Cleveland Clinic
Dermatology Department
The Brindley Family
My sister Nell had three children (all in their 60s
now). They all have NBCCS and have had hundreds
of BCCs removed. One of them has had several
plastic surgeries. My wife and I have three children.
The youngest died in early childhood. Our daughter,
age 48, never married and does not have the
problem. Our son, age 44, has NBCCS and has had
several dozen BCCs removed. He has an eleven
year old daughter who has not had any basal cells.
And now, here is my personal history in relation to
GDC-0449 clinical trials. Thirty-two years ago, in
1980, I heard that Doctors Alan and Sherri Bale
at the National Institutes of Health (NIH) were going
to start research to find the cause of the hereditary
Nevus Syndrome. I found their phone number and
called them to find out about it. After telling them my
family history, they asked if my family would come to
NIH in Bethesda, Maryland to be interviewed.
The Bales wanted my mother, all six of her children,
their husbands and wives, and their children all to
come. My family all agreed and 29 of us went to NIH
over the course of the next few weeks. We talked to
the Bales and gave them skin, blood and whatever
other specimens they wanted. Of course, I hoped
that they would come up with the cause and solution
to Nevus Syndrome in a few days or weeks. I am
sure that I was really quite a pest to them. At first, I
would call them every three or four weeks to see if
they had the answer yet. I finally admitted to myself
that it was not going to happen very fast. So then,
I only called once every six months or year for the
next few years.
After 20 years or so, they identified the cause of the
syndrome and started looking for a drug company
that would try to find a new treatment for Nevus
Syndrome. I then would again call Alan Bale too
often to see if they had a company working on it yet.
After several calls to him, I remember him saying
what the problem was. After he would explain to a
company what he was looking for, they would usually
say, “that is only skin cancer; it isn’t life threatening”.
Therefore, they were not interested. I do not
know how he finally got Genentech to accept the
challenge, but we are all extremely thankful for it.
Raising Awareness and Finding a Cure, You are Not Alone
of Alabama and Their Life with NBCCS
Continued from Page 1
Joe’s sister Nell Brindley Buchmann
Joe’s mother Ettie Maude Yeager Brindley
I kept up with all the clinical trials once they started.
When the Expanded Access Clinical Trial was
opened, I decided it was time for me to participate.
The first site for this trial was Scottsdale, Arizona. A
long way from Alabama, but I was anxious to see
what the GDC-0449 would do for me. I enrolled in
the trial and went the first time in August 2010. I
went there three more times, once a month. Then,
they opened a site in Nashville, Tennessee. It is only
140 miles from my home. I transferred to Nashville
and went there every month until the FDA approved
the drug on January 30, 2012. I am still taking the
drug, but of course I have to buy it myself now.
I experienced several of the potential side effects
of the drug early on. I lost the rest of my hair – but
the good part of that is that I do not have to shave
anymore. I also lost my eyebrows and eyelashes. I
lost my sense of taste and that was a strange one.
In two or three months I lost 25 pounds from my
normal 190 pounds. It was because eating was not
fun anymore – everything tasted the same. I said it
all tasted like paper.
My worst side effect was the leg cramps. I did not
know a person could have leg cramps that painful.
In talking to the doctor in Scottsdale, he said that
several people dropped out of the clinical trials
Quarterly Advocate, Autumn 2012
Joe’s uncle Dewey Yeager
because the leg cramps were so bad. Now, I will
tell you my home remedy for leg cramps. I mix one
tablespoon of honey with two tablespoons of apple
cider vinegar in a half glass of water and drink it one
or two times a day. Google “leg cramps” on your
computer and you will find hundreds of articles
on this remedy.
To finish my story, on my first visit to Scottsdale they
selected six of my worst “spots”, from my forehead
to my ankles, and took pictures of them. They
wanted to keep track how the drug was working as
time went by. On my second trip, after taking the
drug for only 28 days, a nurse (who did not see me
on my first trip) came into the room with a camera
and the pictures from my first visit. She was holding
the pictures and looked at me and said, “Where are
they?” I replied, “They are gone.” All of my spots
were gone! Except a few on the top of my head, but
even they were dried up and almost gone.
I know the drug does not work on everyone. A
person from Genentech called me soon after the
clinical trial was over to ask me some questions. I
asked her about the success of the drug and she
said that 48% of the participants had total resolution.
Another 14% had partial and 38% had none. I feel
so blessed!!! 3
Meiers kids
with butterfly.
Kathyln and her son Ma
rc at butterfly release.
Bois Blanc Island, Michigan
June 2012
Michigan Regional Family Meeting
As you can see, we had a great time this summer. We experienced a butterfly release, the kids went fishing, we
played on the beach... Best of all, we enjoyed one anothers’ company. Regional meetings are a great way to be in
fellowship with people, and their families, who live with BCCNS. You may have missed Michigan, but
DON’T MISS the Ohio meeting this October! Call our office today for details.
Beth Beeson assists Gavin
with his butterfly release.
Chec
itants.
king for bat-house inhab
Sandy beach
+ kids = recipe
for fun
Raising Awareness and Finding a Cure, You are Not Alone
Insel Haus
proprietor
Christa with
butterfly.
Special thanks to Larr
y
Phillips of Hawk’s Land
ing.
He treated our kids to
a
fishing excursion and
shared
pearls of wisdom.
Shelby & C
hrista New
house
(far left) b
id us adieu
.
Marc Roth presen
a, Christa, Kristi, Bill
Merrilee Libk
Quarterly Advocate,
Autumn 2012
ts his story to mem
bers of Bois Blan
c community.
Special Report on Gorlin Syndrome . . .
Introduction
Have you ever heard of Gorlin Syndrome? What do
you think it is? Gorlin Syndrome is a rare genetic condition that occurs when a mutation (or problem) happens in chromosome 9, and can affect many systems
in the body. Only one in sixty thousand people have
Gorlin Syndrome. Gorlin Syndrome has many names.
One name is Nevoid Basal Cell Carcinoma Syndrome.
Some of the characteristics that you can have if you
have Gorlin Syndrome are basal cells, jaw cysts, pits
on the palms of your hands and/or soles of your feet,
seizures, skeletal abnormalities, and various tumors
around the body. If the patients with Gorlin Syndrome
get basal cells, they protect their skin by using sunscreen and wearing a hat and sunglasses.
How You Get Gorlin Syndrome
Basal Cell Carcinoma Nevus Syndrome (BCCNS) is
a rare genetic condition that occurs when a mutation
happen sin chromosome 9. If you have characteristics
of Gorlin Syndrome, the doctors will look into your family history to see if anyone else has Gorlin Syndrome.
The doctors will also check your jaw and skin to see if
you have any cysts or skin cancers. They will look at
your chest and skull through an x-ray, take MRIs of the
brain and jaw, and do an ultrasound of the abdomen
of females. Patients with Gorlin Syndrome could have
had a mutation happen in the PTCH1 gene. PTCH has
instructions called Patched-1. The proteins fit together,
but when they don’t, a mutation happens which prevents cell growth and allows tumors and other cancers
to grow. Gorlin Syndrome is inherited by the dominant
chromosome. Which means you can only get Gorlin
Syndrome from one of your parents if they have it.
Only 1 in 60,000 people have Gorlin Syndrome.
Audrey sent us a copy of her report and
this beautiful “thank you”.
10
Major Characteristics
They most common symptom of Gorlin Syndrome is
basal cell carcinoma. Basal cells are the most common type of skin cancer too. Though each person
with Gorlin Syndrome will vary in the amount of skin
cancers they get and where they are located on the
body. Basal cells are often found on the face, chest,
and back. Basal cells usually develop during the teen
years and early adulthood, but they can be found on
kids. Other characteristics of Gorlin Syndrome are jaw
cysts, skeletal abnormalities, skull calcification, and pits
on the palms of hands and soles of feet. If you have
Gorlin Syndrome, a characteristic that you could get
are jaw cysts (keratocystic odontogenic tumors). They
cysts can destroy your jaw if they are not treated. The
cysts could cause tooth displacement and/or swelling of the face as well, if they are not treated. Another
characteristic of Gorlin Syndrome is palmer and plantar
pits. The pits are about 1-2 millimeters wide, and can
be on the palms of your hands or the soles of your
feet. There are more than 1 million new cases of skin
cancers described each year, but less than 1 percent is
Gorlin Syndrome.
Other Characteristics
Other characteristics of Gorlin Syndrome are tumors,
skeletal differences in the spine or ribs or skull, large
head size, and heart fibromas. Heart fibromas don’t
cause symptoms, but they could block the blood flow
in your body or cause irregular heartbeats. The fibromas can be found in your heart or ovaries. Ovarian fibromas do not make it difficult to have children.
Another characteristic of Gorlin Syndrome is skeletal
abnormalities. Not all people with Gorlin Syndrome
have skeletal abnormalities. The skeletal differences
are usually in the spine, ribs, or skull. When kids with
Gorlin Syndrome are very young, they could get a brain
tumor called a medulloblastoma tumor. The tumor can
cause dizziness, sickness, or you can get really tired.
They symptoms of the tumor can occur most often in
the morning. Those are some other characteristics of
Gorlin Syndrome.
The History of Gorlin Syndrome
Gorlin Syndrome was first reported by two men named
Jarisch and White in 1894, but was described in detail
by Robert Gorlin in 1960. In 1967, two Egyptian skeletons were dug up from the Dynastic Period. One skeleton was a male, and appeared to be 20-25 years old.
The other skeleton was a male, also, but was about 60
years old. The skeletons, both, had jaw cysts, skeletal
abnormalities in the ribs and spine, and a shortened
Raising Awareness and Finding a Cure, You are Not Alone
a School Report by Audrey Rancourt
fourth finger. These are all characteristics of Gorlin
Syndrome. The two skeletons are now located at the
University of Turin in Italy.
Robert Gorlin
“Robert Gorlin was the most world-famous faculty
member at the dental school, and the most famous oral
and maxillofacial pathologist in the world, period”. This
was according to Michael Rohrer DDS, MS, the director of the School of Dentistry’s Dinsion of Oral Pathology and president of the American Academy of Oral
and Maxillofacial Pathology. Robert Gorlin was born
in 1932, in Hudson, New York. Robert Gorlin was an
only child, and was abandoned by his mother. His aunt
raised him until he was 11, then he rejoined his father
and stepmother. Later, Robert received a scholarship
to go to the Columbia College in New York City. Robert
accepted the scholarship and earned his BA in three
years. Then, he served in World War II from 19431944. Robert Gorlin went back to school and was acclaimed an expert on oral and maxillofacial pathology,
genetic defects and syndromes, craniofacial disorders,
and hearing loss. Robert Gorlin specialized in the face.
Robert Gorlin also named more than 100 syndromes
caused by genetic defects. Later, six syndromes were
named after him. Robert Gorlin described Basal Cell
Carcinoma Nevus Syndrome. Robert Gorlin died on
August 29th, 2006.
DNA
DNA is also called Deoxyribonucleic Acid. No one has
the same DNA. DNA is made by the genes in your
body. There are at least 30,000 different genes in
your DNA. DNA is also, made out of chromosomes. A
chromosome is one long piece of DNA. Humans have
23 pairs of chromosomes. 23 come from a large cell
called the egg, which is from the mom. Another 23
chromosomes come from a tiny cell called the sperm,
and is from the dad. There are 46 chromosomes in
each cell. A mutation happens when a piece of DNA
is damaged or the DNA is copied wrong. A mutation
is when something goes wrong. For example, Gorlin Syndrome can happen if your DNA is damaged or
copied wrong.
Maintenance
BCCNS Life Support Network is the only support
group for Gorlin Syndrome patients in the U.S.A. The
Network provides educational information, special
events, help with insurance, a kids’ group, and the staff
will give you the names of recommended doctors. The
patients see a doctor or dermatologist for skin checks,
to find any basal cells that they have and to remove
Quarterly Advocate, Autumn 2012
them. Sun protection is very
important for patients with Gorlin
Syndrome. Many of the patients
wear sunscreen, a hat, and
sunglasses to protect their skin
so they won’t get as many basal
cells. The patients also avoid
x-rays because the radiation of
the x-ray is like the radiation from
the sun. So the patients avoid as
many x-rays as possible.
Conclusion
In summary, Gorlin Syndrome has
only been described in the past
century. They syndrome was first
Audrey Rancourt
reported by two men named Jarisch and White, but was described graduated from 5th
in detail by Rober Gorlin 66 years grade this spring.
She requested
later. Next, the BCCNS Life Supinformation from the
port Network is the only network
for Gorlin Syndrome patients in the BCCNS Lilfe Support
Network office so
U.S. The support group provides
that she could write
many activities and informational
facts for the families. Finally, more a report about
BCCNS.
than 1 million new cases of skin
cancer are described each year,
but less than 1% is Gorlin Syndrome. Gorlin Syndrome
is a very rare condition.
Bibliography
“Advancing Awareness… Finding a Cure”. Basal Cell Carcinoma Nevus
Syndrome Life Support Network. Burton, Ohio.
Balkwill Fran. Have a Nice DNA. New York: Cold Spring Harbor Laboratory Press, 2002.
“BCCNS Manifestations.” BCCNS Life Support Network. 31 March 2012.
http://www.gorlinsynrome.org/manifestations.aspx
Bitar, George J., M.D.; Herman, Charles K., M.D; Dahman, Mohammed I.,
M.D.; Howard, Martin A., M.D.
Basal Cell Nevus Syndrome: Guidelines for Early Detection”. American
Family Physician. 15 June 2002.
“Dr. Robert J. Gorlin”. 8 August 2011. Gorlin Syndrome Australia. 13 April
2012. http://gorlinsyndromeaustralia.blogspot.com/2011/08/dr-robert-j-gorlin.htmlz.
“Gorlin Syndrome”. 2005. DermNet NZ. 14 April 2012. http://dermnetnz.
org/systemic/gorlins.html
“Gorlin Syndrome”. Genetics Home Reference. July 2008. U.S. National
Library of Medicine. 31 March 2012. http://ghr.nlm.nih.gov/condition/gorlinsyndrome.
Macnair, Dr. Trisha. “Gorlin Syndrome”. April 2008. BBC – Health: Gorlin
Syndrome. 14 April 2012. http://www.bbc.co.uk/health/physical_health/conditions/gorlinsyndrome1.shtml.
“Multiple Basal Cell Nevus Syndrome In Ancient Egypt”. 22 March 2005.
BCCNS Life Support Network; Educational Dorcuments. 14 April 2012.
http://www.gorlinsyndrome.org/Educational_documents.aspx
“School of Dentistry Loses a Respected Colleague and Friend”. 17 July
2008. School of Dentistry. 12 April 2012. http://www.dentistry.umn.edu/
news/Gorlin_Obituary/home.html.
11
Cancer patients
find comfort online
Former COO of Spanx creates community
full of stories, advice
By Shari Rudavsky
shari.rudavsky@indystar.com
David Wasilewski couldn’t see
himself spending the rest of his life
selling women’s undergarments. So
he stepped down as chief operating
officer of Spanx, a company that he
had helped launch.
But he wondered: What next?
He wanted a project that would
feed his spiritual side, allow him to
help others. He found that when
he created an online community
where people with cancer can go
to connect with those who have
received the same diagnosis.
With a bare-bones team in Carmel,
Wasilewski launched WhatNext.
com, a website for people with
cancer. The site, which bears
the seal of the American Cancer
Society, matches people down to the
stage of the cancer and the type of
treatment they opted to pursue.
Wasilewski compares it with
stepping into a Starbucks where
everyone has breast cancer.
WhatNext acts like the consummate
host, identifying for the user others
whose perspective will be most
relevant in terms of cancer type,
disease stage, age and sex.
“You come to the door and the
concierge says, ‘What do you have?’
and we handpick the best of the
best for you,’ ” he said. “That’s what
we try to do instead of just throwing
you into a big room.”
Why did Wasilewski decide to take
12
David Wasilewski, the former chief operating officer of women’s undergarment maker
Spanx, came up with the website WhatNext.com, an online support community for
those with cancer. Photographed by: MICHELLE PEMBERTON / THE STAR
on such an endeavor after leaving Spanx?
When his uncle Joe Hevron was diagnosed with brain cancer at age 80,
the doctor offered surgery, radiation and chemotherapy but provided little
guidance other than to say he needed a decision in the next few days.
Hevron was reeling. Finally, he connected with someone who had received
a similar diagnosis, and that person advised him to have the surgery,
saying it was not bad. Hevron lived for an additional 1-1⁄2 years before
dying earlier this year, Wasilewski said.
WhatNext “is about helping people to make decisions, and unless you have
been through that, it’s very difficult to do,” he said.
The approach is working for Carol Haines, a Pittsburgh resident who
recently learned she has rectal cancer. Haines saw the link to WhatNext.
com on the American Cancer Society’s website and decided to check it out.
As a young cancer patient — Haines is 37 — she found a community that
could relate to her problems. She was able to connect with other young
women experiencing hot flashes because of chemotherapy and meet peers
with colon cancer, which typically strikes those a generation older.
Unlike other cancer socialmedia sites, which tend to be gloomy, WhatNext
inspires optimism and humor, she said. In a recent chat, users exchanged
anecdotes about crazy things they did when they had “chemo-brain,” a
common side effect of cancer treatment.
“It’s nice to see something lighthearted,” Haines said. “I looked at a bunch
of sites and fell in love with this one. It doesn’t compare with anything else
out there.”
Raising Awareness and Finding a Cure, You are Not Alone
Survivor Carol Young, 59, also
noticed the site’s upbeat tone.
Four and a half years ago when
she was diagnosed with breast
cancer, she turned to her sisterin-law, who had been through it.
Young, 59, vowed to do for others
what had been done for her.
The Westside resident joined
the Pink Ribbon Connection,
a local support network for
those with breast cancer. Young
learned about WhatNext through
Wasilewski, who she met a few
months ago.
Young liked the site’s design and
that users can remain anonymous.
“It’s put together such that it asks
the right questions so you can put
a whole picture together,” Young
said. “When you go online, a lot
of the information is very good,
but some of it can just scare the
bejesus out of you. It seems that
everyone puts everything there in
a positive note.”
WhatNext invites users to describe
the “oh no” moment when they
learned they had cancer, then
follow up with descriptions of
procedures, treatments such as
chemotherapy or radiation, and
other care.
The site is carefully vetted for
medical accuracy. Wasilewski
worked with scientists at the
American Cancer Society in
crafting the language.
When Robert Ross, the society’s
vice president of interactive
and new media, heard about
Wasilewski’s site, he thought it
was the answer to his quest to
create a focused online peer
network for cancer patients.
have a much better chance of success because I’m putting my feet in the
virtual footprints of someone who has gone before me,” he said. “What
we’re trying to do is help people have a better decision support system.”
Wasilewski eventually plans to include information about resources, such as
cancer centers and clinical trials, on the site. But it will not host ads, he said.
WhatNext isn’t the only site that aims to connect people touched by cancer.
IHadCancer.com, which bills itself as Facebook for those who have cancer,
has a similar template with similar capabilities.
Mailet Lopez, one of the site’s founders, came up with the idea after her
own breast cancer diagnosis. Another young woman who had gone through
a similar experience provided crucial guidance for her.
“You don’t know who to trust, what to believe. It’s so overwhelming; you feel
so alone,” she said. “When you’re newly diagnosed, you don’t have a lot of
time to make decisions.”
IHadCancer aims to cut through the confusion, matching visitors by age,
sex, disease and location. Some users meet offline as well, Lopez said.
It, too, came online recently (about four months ago) and already has more
than 5,000 users in 65 countries, its New York-based founders say.
About 1,000 people have signed on to WhatNext, and the site is about to
launch a campaign to collect 100,000 users.
Eventually, WhatNext will expand to include other conditions, such as
diabetes, arthritis, Alzheimer’s or infertility.
The site’s name came from Wasilewski’s mother, Mary Rose, who is a
radiation therapist. “Call it WhatNext,” she proposed, “because that’s the
question I hear most from patients.”
Having been through cancer herself, Young said, she knows how fitting it is.
“When you’re diagnosed, you go through this flurry of doctor appointments,
and you don’t have time to think,” she said, “and that’s what goes through
your head: What next?”
✭ Call Star reporter
Shari Rudavsky at
(317) 444-6354.
Rudavsky, Shari.
“Cancer Patients
Find Comfort
Online.” THE
INDIANAPOLIS
STAR 30
DECEMBER 2011:
A1 and A8.
“If I could talk to the person who
might be me in five years, then I
Quarterly Advocate, Autumn 2012
13
New Cancer Drug Gives Patients With
By CARRIE GANN (@carrie_gann), ABC News Medical Unit
For nearly 50 years, Joe Brindley, 81, has been going to the
doctor every few months, getting chunks of cancer removed
from the skin all over his body.
Doctors removed so much skin
from his nose that he needed
a skin graft from his forehead
to reconstruct it. “I said at the
time, Doc, do you think that will
do me any good? I’ll have new
skin cancer in three years,”
Brindley said. Sure enough, two
years after the painful surgery,
the cancer returned.
Stewart Slone, 63, estimates
that he’s had more than 1,000
skin cancers in his lifetime.
Surgeries to remove cancer
from the top of his head left it
bald and raw. He said people
called him lots of names he’d
like to forget.
“I’ve sort of lived as an outcast,
all the scars on my face, and
no hair and the red color to my
head,” he said.
Brindley, Sloane and thousands
of others have a condition called
basal-cell nevus syndrome, or
Gorlin syndrome. It’s a rare
genetic disorder that gives a
single person hundreds to thousands of skin cancer tumors
during his or her lifetime.
People with the condition usually have surgery every two or
three months to remove a cancerous lesion from their skin.
They risk losing an ear, an eye
or nose, along with having scars
and lesions on their faces.
“Surgery was the only
14
treatment, and has been for
many years,” said Kathlyn
Roth, 58, who has had Gorlin
syndrome since she was 15.
“When you’re walking around
with a bandage or cotton ball
sewn to your face, people look at
you very strangely.”
However, patients with Gorlin
syndrome now have new hope
from a drug that treats the
disease. The drug, called vismodegib, not only treats patients
with Gorlin Syndrome but also
thousands patients with advanced stages of basal cell carcinoma, the most common form of
skin cancer.
Three studies published today
in the New England Journal of
Medicine describe the success
of the drug against basal cell
carcinomas. Dr. David Bickers, chairman of dermatology at
Columbia University and an author of one of the studies, said
for the 2 million people who develop a few small skin cancers,
surgery is still the best option.
But for people with advanced
forms of the disease, the drug
will be a major help.
June 6, 2012
scientists discovered a biologic
pathway that tells the body’s
cells when to stop growing. The
pathway, called the sonic hedgehog pathway, plays a key role
in the growth and development
of fertilized eggs, starting and
stopping at specifically timed
points in development.
“Once you’re born, it pretty
much shuts off. And that’s a
good thing,” Bickers said.
But the trouble begins when the
sonic hedgehog pathway spins
out of control.
“When it turns on again in the
adult, this drives the cell division that drives the growth of
tumors,” Bickers said. Decades
of research has shown scientists
that the pathway is active not
only in skin cancer, but also in
some childhood cancers, pancreatic cancer and certain types
of lung cancer.
In patients with Gorlin
syndrome, an error in a gene
called PTCH prevents their
bodies from putting the brakes
on the sonic hedgehog pathway,
leading to the unchecked
growth of tumors.
“These patients instead of having one or two basal cells, often
develop dozens, even hundreds
of them, requiring hundreds of
surgeries,” Bickers said. “For
those patients, taking this drug
and reducing the tumor burden
is a major advance.”
Now, nearly 20 years after
scientists discovered the role of
the pathway in tumor growth,
researchers developed vismodegib to target the pathway, basically shutting it off. The drug
is manufactured by Genentech.
Tracking a Sonic Hedgehog
The quest for a treatment for
this type of skin cancer began
more than 20 years ago, when
According to the new results
of small clinical trials, the approach works. Researchers
studied 104 patients in the most
Raising Awareness and Finding a Cure, You are Not Alone
Rare Skin Cancer New Hope
advanced stages of basal cell
carcinoma, giving them the
drug for a little over a year.
Tumors shrank in the majority of the patients, and in some
patients, the tumors disappeared completely.
In a study of 41 patients with
Gorlin syndrome, the results
were similar. In the 26 patients getting the drug, researchers saw only two new
tumors develop, compared
with 29 new tumors in the 15
patients taking a placebo pill.
The size of existing tumors
also shrank in patients taking the drug. The drug worked
with surprising speed; the
researchers wrote that they
expected the drug to need at
least two months to make noticeable changes, but many patients saw results after about
one month on the drug.
“This really is a breakthrough,” said Dr. Darrell
Rigel, clinical professor of
dermatology at NYU-Langone
Medical Center, who was not
involved in the study. “On a
scale of one to 10 in breakthroughs in dermatology, this
is probably an eight or a nine.”
Rigel has been using vismodegib in his patients with
advanced basal cell disease
since the U.S. Food and Drug
Administration approved it
in January. He said the differences for these patients have
been dramatic.
30 or 40 of these tumors, you
start running out of places to
cut people,” he said. “To now
have something that works so
dramatically is very exciting.”
Tough Side Effects, But Worth It
The drug has some tough side
effects, such as hair loss, painful
muscle cramps, weight loss and
loss of taste. The side effects were
enough to drive 54 percent of
the Gorlin syndrome patients to
drop out of the study. In the study
of patients with advanced basal
cell carcinoma, seven patients
died, though it’s not clear if their
deaths were directly related to
the effects of the drug.
“The side effects were difficult.
They take some soldiering,” said
Julie Breneiser, 54. She lost 50
pounds and had painful cramps
in her legs and hands. She said
losing her hair, including her
eyebrows, was the most difficult
thing to accept.
“But every time I felt down
about it, I thought about what
I’m potentially gaining from the
drug and for others who could
benefit from it in the future,”
she said, including her two
children, both of whom have
the disease.
The drug’s side effects were also
tough for Brindley, who dropped
25 pounds and lost his hair.
“I didn’t have much hair to begin with,” he said. “The
bright side is, I don’t have to
shave anymore.”
But they were worth it in the
end. Brindley said nearly all of
his skin cancers disappeared
after two months on the drug.
“I’m so amazed at what this
drug did for me,” he said. “My
grandmother and mother and
uncle and older sister all had it.
I am so thankful that someone
finally found a cure for this.”
Erivedge
(vismodegib)
can be used
to treat
patients
with Gorlin
syndrome.
(Genentech)
“We really had nothing
for these patients before.
If someone comes in with
Quarterly Advocate, Autumn 2012
15
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Coalition of Skin Diseases Development Day & American
Academy of Dermatology’s Legislative Days
September 8 – 11, 2012
Washington, DC
South Australian September Get Together
September 9, 2012
North Haven, Australia
American Society for Dermatologic Surgery
October 11-14, 2012
Patient Resource Cancer Guide
You may have received a Patient Resource
Cancer Guide from BCCNS Life Support
Network in the past. It is an informative
resource for individuals with life-altering
diseases. Patient Resource LLC publishes free
guides for treatments and facilities. To find out
more visit www.PatientResource.com or
call (913) 725-1600.
ww
Atlanta, Georgia
Ohio Regional Meeting for BCCNS Life Support Network
October 25 – 28, 2012
Burton, Ohio
Fall Feast Fundraiser for Pediatric Skin Cancer
October 26, 2012
Middlefield, Ohio
BCCNS Autumn Classic Benefit for Childhood Cancers
October 27, 2012
Burton, Ohio
20th Anniversary Gorlin Group Patient Conference 2012
November 3, 2012
Birmingham, England
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PO Box 321•Burton, Ohio 44021•www.BCCNS.org•info@bccns.org•(440) 834-0011