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A New Face

First Person Story (New Feature)

BCCNS Life Support Network 2002 Member Retreat

AAD Convention in New Orleans

CPASDR Coalition of Patient Advocates For Skin Disease Research

BCCNS Study in Italy

Our members in attendance represented eastern states including New York, New Jersey, Rhode Island, Massachusetts, Pennsylvania, Ohio and even the beloved eastern state of Illinois.

Dr. David Bickers provided a group of approximately 25 attendees with a thorough description of the ongoing Celecoxib study that we are supporting. Some of our members are ineligible due to a variety of reasons. Some are under 18 years of age, some have had recent cancers and other possibilities. At least five of the attendees were eager to apply for the study once the details were described. We hope they are all accepted. If you are interested in obtaining more information on the study just drop us a line.

Dr. Bickers was also kind enough to provide the group with a very delicious breakfast and lunch. The facilities were perfect for our needs. We were a little concerned about having a meeting in a hospital atmosphere, since we all spend so much time there. The facilities at Columbia were more like a high tech business office and the theater was remarkable. Very, Very nice.

Our members had an opportunity to see the BBC video "A Bitter Inheritance" and offer their comments. All were pleasantly overwhelmed and very thankful to the Costello family for their continued efforts.

Bill Costa demonstrated our website and discussed the various options for our members. We are glad our attendees will be getting full use of the site now. Great job Bill.

As much as we would like to believe it is the incredible information that is obtained at our meetings, or the riveting delivery of the people we have presenting it to you, we understand for most of our members the real motivation for attending is the opportunity to put a face to a screen name or to finally meet another BCCNS patient in person or maybe it was hooking up with another parent who understood the same issues you did. For many today was that day. We are thankful to have been able to provide that.

Thank you to all involved in preparing for the meeting and to those who attended.

Here are the comments of one of our members who attended as posted on our Patient Forum.

Rebuilding Faces and More

Indiana man blacked out and crashed his car, which burned for 20 minutes before rescuers could get him out.

His burns disfigured his face so badly that they made fellow diners at his regular restaurant uncomfortable, and he was asked not to come back. Alexander, now 60, retreated to his home, partially blinded and disfigured "like a freak in a sideshow," he said, despite at least 38 surgeries.

Then Bob Barron stepped into the picture, and gave him back his face.

Barron, 59, a former disguise expert for the CIA, helps seriously disfigured people blend back into society by designing prosthetic devices that look so real, most people don't notice they're there. A painter by training, Barron designs pores, veins and hair and skin imperfections into his silicone-layered creations — which have included fingers, hands, shoulders, ears and even entire faces.

"You have to know how to sculpt," he said. "You have to know chemicals. You have to know how to take impressions."

Margaret Bowden lost her left eye to cancer — including much of the socket and surrounding facial area. Casting a mirror image from her good eye, Barron created a prosthetic device that she can pop in whenever she goes out in public.

People "don't even know it," Bowden said.

Eight-year-old Brittany Hoyle was born without an ear. Now, even her father has trouble noticing.

"He says, 'which ear is it?'" she said. "I see two ears when I look in the mirror."

Kelly Green, an athletic 18-year-old college freshman when she was diagnosed with cancer, eventually lost a large portion of her shoulder and surrounding bone and muscle. To compensate, she started to walk differently, and began damaging her posture. Then Barron designed a shoulder.

"It just looked like I was 18 again, before the cancer," she said. "He ended up with something that was breathable on the underneath side. It had my missing clavicle in it and everything. It looks spectacular."

You can read the entire story and see the spectacular photos here:

http://abcnews.go.com/sections/primetime/DailyNews/primetime_020328_behindthemask_feature.html

In an effort to allow you to get to know some of our members a little better we have recruited Maria Michalowski of Pennsylvania to be our roving reporter and editor of our new newsletter feature First Person Story. As part of the assignment we also solicited Maria to be the first member to have her story published. Here it is.

In 1968, my parents were trying to get some questions answered. I was seven years old and they had noticed a large lump in the gums of my lower jaw. My first jaw cyst was the size of a silver dollar. I lost four baby teeth and the developing permanent tooth buds. The remaining jawbone was "paper thin" meaning that I had to eat baby food for several months. I distinctly remember how awful baby food tasted, and how silly I felt eating it. My parents had no idea that this was anything more than an unfortunate, one-time occurrence. There is no known history of BCCNS in my family.

By 1970, my family was led to a teaching hospital where an enthusiastic resident remembered reading "something"....and that is how I was diagnosed. I’m not sure what criteria were used to diagnose me other than a couple of bone anomalies and the jaw cysts. I remember lots of men in white coats looking at my palms and the bottoms of my feet, but I didn’t have the pits at the time. My feelings were mixed. On one hand, I felt "special" receiving such attention from so many doctors. I posed for lots of pictures of various parts of my body, which was often uncomfortable. To try and make me feel better, I was told I would probably be in all kinds of medical textbooks. This only added to the other feeling, that I was some kind of "freak". There were lots of questions, but very few answers. We were told the condition was genetic and that I would get skin cancer. As a nine year old, I didn’t look too far ahead or spend time worrying about my future.

The teenage years are difficult enough for the "normal" person, without jaw cyst surgeries sprinkled throughout. I had learned the early signs of cyst development and I would put off telling my parents. When the stress became too great, I would confess, cry, and beg them not to make me go to the doctor’s office. The fairly extensive orthodontic work that I needed, due to cyst damage, only added to my feeling of being abnormal.

I developed my first BCC at the age of 21. It was actually a relief since I’d been trying to "watch" my many freckles for years. Now I knew what it looked like!! My last jaw surgery had been five years before, so the syndrome seemed to be relatively minor in my life. I got married with very little pre-marital discussion of my syndrome and it’s potential. All I really knew was what I had experienced, so there was not much to tell. I had been told repeatedly that there were others with this condition, but was never linked up with anyone, and I’d never been given any written information.

When my husband and I started a family, syndrome reality took a firmer hold. My doctors told me that I could have genetic testing, but I decided against it since the results were often inconclusive. I thought I knew what to watch out for. My children were born and grew with no significant signs of the syndrome, although I felt defensive when people commented that they resembled me!

My skin cancer surgeries continued to increase both in number and severity. I stepped up my sun protection regimen and purchased a shirt made of sun protective fabric. On the order form I indicated "why" I was purchasing this item, and the president of the clothing company contacted me and informed me of a syndrome support group. Within an hour I had my first conversation with someone who had walked in my shoes! I felt like I had found a long, lost brother or sister! That conversation helped to wipe away many of the feelings of abnormality and isolation I had come to accept.

The downside to that was that the complete realities of BCCNS were opened to me. Up until this time, I didn’t even know the correct name of the syndrome ("Nevus Basal Cell something-or-other Syndrome") and I‘d never heard of the name "Gorlin". A year or so later, with the introduction of the computer, the depth and breadth of this condition came down heavily, with manifestation lists and personal stories of pain and loss. I was overwhelmed.

I thought I had the syndrome "handled". I knew what I had dealt with and I believed that was all I would ever deal with. I believed that if my children were affected, they would be affected just like I had been. In other words, I had believed a lie. Now I was faced with "the truth". To make matters worse, "the truth" was very uncertain, my family’s future was unclear. Now there were even more questions without answers. I struggled with the idea of just ignoring it, hiding from it, deleting all references to BCCNS from my life and going back to "the way things were". Standing between that option and me, was my family. I had to accept this "thing" and deal with it for the sake of my husband and our two young children. They knew about the syndrome and the hereditary possibilities. They had watched me battle skin cancer for years. They needed the information that my parents and I never had. I had the opportunity to help my family become better patients, advocates, and support people. I had the beginnings of "an answer".

Slowly, I began to sort things out and manage them, including having my children examined more diligently. Within a month, during a routine dental visit, my 12 year old son was diagnosed with a jaw cyst. I can’t say that I handled this news "well", but I know that if I had not found a network of people that were surviving, and sometimes thriving, with this condition, my reaction would have been much, much worse.

Unpleasant memories did flood back like a tide. I called my parents and apologized for all I had put them through. I ranted and raved and cried and prayed. Then I determined that I had to let my son go through his own experience. I could not project my fears onto him. Medical technology had improved and my son had an informed advocate in me. My parents were from a generation that didn’t question doctors and they didn’t have enough information to do any more than "go with the flow". I realized that I could offer my child something that no one else could. Hope. I had walked in his shoes and I had "made it". I had access to information and support that empowered us to make choices in regard to treatment. My son’s surgery day was very emotional, but he was a trooper and his recovery was remarkable.

Several weeks after the jaw surgery, the BCCNS Life Support Network had it’s first annual Retreat. The experience was powerful: open arms, faces, scars and tears; children, spouses, moms and dads; doctors, patients, information and validation. This was truly the experience of a lifetime. My husband and children attended with me and the impact was life changing for each of us. As a patient, a spouse, or a sibling -- none of us will ever feel alone. The story is far from over and the ending is still unclear, but I had found one answer to a lifetime of questions.

We would love to hear your story. If you would like to submit your first person story for consideration contact Maria Michalowski by e-mail at mmski83@hotmail.com .

It’s just around the corner! June 7^th – 9^th 2002 Punderson Manor Resort & Conference Center will be home to the largest ever gathering of BCCNS / Gorlin Syndrome thrivers in the world! Have you made your plans to attend? Here are what some of last years BCCNS Life Support Network Member Retreat had to say attendees had to say:

"I feel truly blessed to have been able to attend this seminar and, to think this would not have been possible if Bud had not responded to my very first e-mail that I still have."

"Everything was perfect we could not have asked for anything more."

"Sheryl Cohen (the social worker) was wonderful."

"Very well presented should be a yearly conference. Need more info on nutrition, vitamins and spousal support."

"Bear with us! Future retreats need more open discussions of choice. Great Job - Appreciate the tremendous job done by all."

"The trip to the Science Center was FANTASTIC!"

"The Science Center was cool I like science. BCC experience (sharing) was neat."

"Buffalo and Pheasants was awesome."

Attend this year’s retreat and discover the latest information on treatments for cancers & cysts, advancements in genetic research and testing, clinical trials and studies related to BCCNS, coping skills, medical record keeping, dealing with insurance companies, patient rights and responsibilities and most of all the opportunity to meet

Being a state park atmosphere there are many more family oriented activities. The park features a fishing lake, hiking trails, indoor and outdoor pool and an array of activities. Accommodations vary from the Manor Lodge, which has an excellent restaurant and bar. There are also family cabins that can be shared. Cabins are two bedrooms, living area with fireplace and kitchen. For the more adventurous there is also a campground. Punderson Manor Resort & Conference Center is located about 20 minutes from Six Flags Amusement Park and 40 Minutes East of Downtown Cleveland.

Here is a link to Punderson Manor Resort:

http://www.pundersonmanorresort.com/

Here is the link to Six Flags Worlds of Adventure Theme Park:

http://www.sixflags.com/parks/worldsofadventure/home.asp

Here is a link to Ohio Tourism:

http://www.ohiotourism.com/default_f.asp

There are a limited number of rooms and cabins available the deadline for room registration is April 10^th, 2002. To reserve your room call 1-800-282-7275, which is the number for, Ohio State Parks Reservations tell them you would like to reserve a room or cabin at Punderson Manor and mention the BCCNS Life Support Network. If you fail to mention BCCNS they will tell you they are sold out for these dates. Don’t miss out.

Room Type Monday -Thursday Friday & Saturday

Estate Single $95.00 $110.00

Two Double Beds $109.00 $124.00

Estate Queen $132.00 $142.00

Estate King $132.00 $142.00

Two Bedroom Cabins

Parkside $130.00 $170.00

Hillside $115.00 $150.00

Registration for the meetings is $45.00 per person. Meeting registration deadline is April 30^th, 2002.

The registration fee includes all three days of sessions, materials & handouts, icebreaker session with cash bar, dinner and two luncheons, cookout and a lifetime of memories.

Please make payment for meeting registration by check or money order to: BCCNS Life Support Network P.O. Box 321, 14606 West Park Street, Burton, Ohio 44021

Report on American Academy of Dermatology, in New Orleans.

The reality that there are an overwhelming number of rare conditions hit home as she attended multiple seminars each day which highlighted briefly the diagnosis and treatment options. Atopic Dermatitis, Genomic analysis of blood cells, safety and efficacy of topical treatment in children and adults, scalp disease prevalence in Caucasians, African Americans and Chinese and the effects of shampoo; Maffucci's Syndrome; Cutaneous Metastasis from Colonic Carcinomas, Patient Awareness and Prevention of Non Melanoma Skin Cancer; Dorfman-Chanarin Syndrome; Flap Reconstruction; are but a few of the hundreds of topics offered. 

"I never even knew there was "oral acne" or thought I knew how to correctly diagnosis a potentially invasive melanoma," noted Schmitt Burr. "But at one particular academic continuing education class, with over 100 slides, in the beginning well over 80% of the audience was missing the diagnosis for melanoma, and by the end, 80% were correct, by simply following a 5 step outline of how to evaluate not whether the suspicious site was or was not malignant but whether to biopsy.  I am still in awe of the miscues that doctors see on a daily basis, and dismiss as benign.  The presenters from Norway stressed, "leave the diagnosis for cancer to the pathologists, not to your instinct."  Whether to biopsy or not is the determination of the physician, but when in doubt, any doubt, biopsy! "

Kristi also met with members of the Coalition of Patient Advocates for Skin Disease Research who offered suggestions on organizational matters, and attended their annual meeting, thanks to an invitation from Angela Welsh of the Society for Investigative Dermatology.  

"Many of the member organizations have been in effect for many years and suggested other meetings to attend.  They successfully lobby congress at annual meetings in Washington D.C. and push for orphan disease research, funding, and support.  We really need to be there with them, and learn from their success," she observed.

Drs. Bickers, Epstein, and Oseroff also met with Welsh and Burr to coordinate some strategy for furthering the Life Support Network mission and offering to help with the BCCNS Annual Meeting to be held in Ohio in June.  The doctors were pleased to have the opportunity to view the BBC Gorlin Syndrome tape as well. 

Plans to attend next years AAD annual convention to be held in San Francisco are already in the works, as Life Support will be joining forces with CPASDR to display our brochures and informational materials in a shared area near the AAD booth and display.  With advance planning, we should be able to have a regional west coast meeting the day before or immediately after the convention.   Keep reading the Advocate for future details.  

Bye for now, Bill, Kristi, Dave, Hans and Molly 

From the suggestion box:  BCCNS member and contributor Marjorie Campbell has suggested that we have membership cards.  We have incorporated some of the BCCNS Children's art to have new letterhead, membership cards, envelopes and our brochure "coordinated" so, thank you Marjorie for the suggestion, which lent itself to a whole new "wardrobe".

The BBC feature VHS tape "Bitter Inheritance" featuring the Jim Costello family with cameo appearances from Oliver, Jen, Bud, Jim, Bill, etc., etc., will be available at the National retreat in Punderson for distribution for educational purposes only.  Copies may be signed out and then returned to the office for further circulation to doctors, community groups, etc.   The BCCNS Life Support Office would like to keep track of where, when and who viewed the tape for informational guidelines and tracking of geography, with hopefully some follow-up to the teacher, instructor or presenter. 

The BCCNS Life Support office will be attending the Florida Society of Dermatologic Surgeons 21st Annual Meeting in conjunction with the American Society for Mohs Surgery at the Wyndham Palace Resort and Spa at Lake Buena Vista, Florida April 25 – 28^th, 2002.   Jennifer Werkmeister, her mother Barbara Rogers, and Bob Tuck will help facilitate the distribution of informational brochures, handouts and be part of "show and tell" and boy, can Jennifer share!

On April 17^th, 2002 the BCCNS Life Support Network will be in Washington D.C. meeting with Congressman and Senators to lobby for Legislation and research funding for skin diseases and disorders.

BCCNS Life Support Network has recently joined the Coalition of Patient Advocates For Skin Disease Research or CPASDR. Lobbying with a large group of organizations has a much greater impact than we could ever hope to achieve on our own. In future years we hope to involve our members in the process.

Professor Lorenzo Lo Muzio of Universitia Deglia Studi Di Ancona is conducting a study of a recently discovered feature of the syndrome, previously not listed as such. Here is the request for our cooperation as he sent it.

I am writing you for a request (see our review http://orphanet.infobiogen.fr/data/patho/GB/uk-gorlin.html).

Prof. Lorenzo Lo Muzio, MD, DMD, PhD
Istituto di Scienze Odontostomatologiche
Facoltà di Medicina e Chirurgia
Università degli Studi di Ancona
ITALY
 
One of the problems with any research on BCCNS is the availability of a broad control group. There are very limited numbers of us and we are difficult to find, let alone gain the cooperation of. If you read any research it gives you the numbers on the control group example: a study of "22 NBCCS patients in Turkey over a five year period" actually this would be a pretty good size control group for our disorder. But considering there are supposed to be 1 in 64,000 people how accurate can the numbers really be?

Being an "orphan disease" we are very fortunate that there is excitement in the scientific community. If it weren't for the discovery of the PTCH gene, we would not be getting the attention that we are getting now. I am constantly amazed at the number of people researching BCCNS compared to the number of people who have the disorder. There are more exciting disorders with greater numbers of sufferers. We need to cooperate to the best of our ability and take full advantage of the excitement while we have the attention of the medical and scientific research community.

So, with Dr. Lo Muzio's study you say "I don't have Bilateral Hyperplasia of the Madibular Coronoid Processes, why should I participate" Well, a study with 900 people from five countries is far more accurate than a snapshot of 12 people in one country. Which study would you like doctors to base a diagnosis of your Grandchild with? Okay, that is a little strong but still it is important that everybody who can participate in these types of studies do so.

All you need to do to participate is contact Dr. Lo Muzio and tell him you are interested in participating in his study for Gorlin Syndrome. Can he please contact you with the details? Here is his e-mail address:

lomuziol@tin.it

Here is a link to his homepage. It is in Italian but you may still be interested to check it out:

http://wwwcsi.unian.it/medicina/docenti_lomuzio.html

This will be Dr. Lo Muzio's fourth study regarding BCCNS / Gorlin Syndrome. He has also published many other studies on various oral cancers. Dr. Lo Muzio has also been kind enough to contribute his work to out growing library of information on BCCNS. Professor Leonardi has been a friend to our syndrome as well with previous research. Professor Leonardi has also referred some of his patients to our organization. We have enjoyed communicating with them and look forward to one day meeting them in person.

Thank you Professor Lo Muzio & Professor Leonardi