2002 BCCNS Life Support Network National Conference / Notes from Cleveland

BCCNS Life Support Network International Conference / Orlando, Florida April 2003

Young Persons Survey

Midwest USA Regional Outing / Chicago

Northwestern USA Regional Conference / San Francisco

In Memory (Sarah Moody)

Insurance Issues / Contributing Members

Back to School

First Person Story

Patient Survey Update

Patient Forum / Internet Bulletin Board

On June 7^th, 8^th & 9^th, 2002 the BCCNS Life Support Network held it’s second annual National Conference held just outside of Cleveland, Ohio. This year’s attendees enjoyed the natural surroundings of the Punderson Manor Resort & Conference Center. The atmosphere was very laid back allowing our members to enjoy more social time together. Members were able to interact during many activities including, a member hosted open house dinner, fishing derby, cookout, swimming, talent show, formal dinner, art therapy classes, a tour of Far-More Farms - a modern dairy farm and a lakeside Vesper service.

We were very happy not only to see so many young people in attendance but, to see the many relationships that developed among them. As one might expect many of our young people who were first time attendees were initially apprehensive. By the second day of the conference you would think many of them had been friends forever and at the end sadly, it was difficult for many to be leaving their newfound friends. Not to worry, there will be plenty of opportunities for all of them and the rest of our young members to get together at our regional meetings. Of course, there is always next year!

With attendees friendships strengthened by meeting in person after communicating over the Internet or finding others for the first time, parting wasn’t any easier for our adult members. Lots of hugs and joyful tears as it came time to depart.

The attendees were also treated to informative sessions on a variety of related topics. Special thanks to all of our presenters including Mohs Surgeon Dr. William Lynch the Director of our medical advisory board, Oral & Maxillofacial Surgeon Dr. James Hanna, Reconstructive Orthodontic Plastic Surgeon Dr. Cowper treated us to a presentation on a wide variety of prosthetic implants and devices. The attendees were even able to see some of the wares as examples of the miraculous work that can be performed. These devices along with Dr. Cowpers skills can literally change peoples lives with their ability to repair and mask defects that would likely otherwise cause patients to become reclusive. Being able to witness what wonderful work Dr. Cowper is doing was settling to those whose worst fears are "What will I do when things advance so far that………?" We now know that no matter how severely we may be affected by the removal of BCCs there are ways of correcting or masking the defects. Once again, another member of our Medical Advisory Board, Social Worker Cheryl Markowitz L.S.W. shined as a presenter hitting on issues vital to our members, helping us solve the mysteries of dealing with a chronic illness and giving many of our members the ability to heal their hearts, minds and souls. Thank you to all of our fantastic speakers.

Here are some wonderful notes from some of the presenters. (Special thanks to Maria Michalowski)

SATURDAY SESSION NOTES

OKC = Odontogenic Keratocysts

Dr. Hanna mentioned that OKC’s are on the agenda at an upcoming Oral Surgeons Conference, pointing out that this would be another "spread the word" opportunity.

OKC Treatment Key: Vigilance and Maintenance

* OKCs originate in dental tissue.

* Differences in OKC in a BCCNS patient vs. "normal" population: BCCNS patients develop MULTIPLE cysts, where the normal population may develop one.

* OKC have a 40-50% recurrence rate. Doctors do not know why they recur so much, or why some people get more than others, or why some grow faster than others.

* There are several treatment options. Enucleation and Marsupialization were discussed, pros and cons. Each individual case must be evaluated respectively. There can be complications, including SCC and amelioblastoma (a benign but aggressive tumor) involved with OKC.

* OKC vs. Gorlin cysts: Be careful with your words. These are different entities; Dr. Gorlin has another type of cyst named after him.

There were tips shared during Q&A regarding "Shopping for a Doctor/Oral Surgeon":

Look for one that is willing to network with other physicians/colleagues.

A "board-certified" oral surgeon is a plus, but not absolutely necessary. Board-certified indicates a higher level of training and testing, but not necessarily experience.

Skin Cancer, in general, is preventable and curable. (Although, not necessarily preventable with BCCNS!)

* 1.1 - 1.5 million new diagnoses (non-melanoma) in 2000, but many areas of the country/world are not required to report, so it is assumed the number is higher.

* UV Radiation: UVA = causes deep skin damage, these rays have less energy, greater quantity. UVB = causes sunburn, these rays have greater energy. UVC = rays that do not penetrate our atmosphere.

*50% of patients with one or more non-melanoma skin cancer will have additional lesions within five years. One or more blistering sunburns leads to increased incidence of all types of skin cancer.

* "Normal" BCC growth rate: a fraction of 1mm a month.

* There are several different sub-types of BCC, determined by pathology/presentation, which affect treatment decisions. A few can be quite aggressive.

*Nevoid (as in Basal Cell Nevus Syndrome) can resemble benign moles, milia, or skin tags. If you have large numbers of these, you should watch them carefully, even an occasional biopsy, to ensure there is no BCC.

*Several different treatment options. Among them:

-Normal Excision = 2-3mm "safety" margin - depending on presentation of lesion.

-Mohs Surgery = developed in 1936 and the original technique took many, many days (one layer per day). Indications for Mohs Surgery: recurrent lesion, aggressive sub-type, large/irregular, indefinite margins, mid-face area, scalp, or "embryonic planes" (folds of skin around nose and back of ears).

-Aldara (Imiquimod) = a topical immunotherapy that looks promising, but is only indicated for use on AKs (actinic keratoses / pre-cancerous), small, Superficial BCC and on non-facial areas.

* Spreading the Word about BCCNS: Dr. Lynch recommended targeting pediatricians, PCPs, and internists to achieve a higher rate of early diagnosis.

* Insurance Info: Multiple Normal excisions = pro-rated payment by insurance (1st @ 100%, 2nd - lower rate, 3rd - lower rate, etc.) However, Mohs Surgery is covered at 100% no matter how many lesions are removed at one time - although time is a factor with this technique.

* Mohs Surgeon Training Info:

American Mohs College and Oct. Cut. Surgery (link on the bccns website) is 30 years old. The training program is rigorous (1-2 years) with the candidate achieving a "fellowship".

American Society of Mohs Surgery is 5-6 years old. There is no fellowship training. The "training" takes place, often during residency, by observing and participating in a Mohs Surgery office.

These mother/daughter dynamic duos shared their heartaches and triumphs with humor and emotion. Some notable quotes:

Cara: (paraphrased) "Listen to your children, respect their feelings, even changing doctors if necessary."

Bryant: "We [BCCNS Patients/Advocates] need to know as much as we can about this condition, because we will meet many [medical professionals] who know nothing.

Nina: (via Ren Bradley) "It’s not what you look like, it’s what’s inside."

Bryant: (paraphrased) "In adolescence, begin to allow children to have a voice in their choice of doctors, and in their treatment, and in their life."

Bryant also advised being vigilant regarding an "aging" medical team. Changes are inevitable. She also brought up insurance issues and the possibility of establishing "medical trusts" to ensure that medical care continues.

Cara shared the song/essay "Wear Sunscreen" by Mary Schmich (performed by Baz Luhrmann). Notable quotes from the book: "You never know when routine life will delight and surprise you." and the dedication "To my mother, who was wise enough not to burden her eight children with advice."

If you would like to view the lyrics to the Sunscreen Song they are posted in our "Patient Forum" Here is the link: http://forums.delphiforums.com/Gorlinsyndrome/messages?msg=556.1

Thanks Maria!

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After reading all about the meeting in Cleveland you may be saddened that you were unable to attend. If so you are in luck! MARK YOUR CALENDERS! We are excited to announce that our 3^rd annual meeting will be held in Orlando, Florida April 27^th, 28^th & 29^th, 2003! Our meetings will precede the Society for Investigative Dermatology meetings held in Miami, Florida. The American Society will be host to the Japanese and European Societies who will be giving up their own annual meetings in order to have a combined meeting. This year’s president of the Society of Investigative Dermatology is our very own Medical Advisory Board Contributor, Dr. David Bickers of Columbia University. Hosting our meeting in conjunction with theirs will likely draw the interest of Medical Professionals from around the globe!

What a great excuse for a family vacation! Given all of the advance notice we are hopeful that most of our members will be able to plan to attend! Late April being a bit "off season" for Orlando will also help make attending more affordable.

I am sure you’re first thought is the same as ours was when we decided on this location "Should we be hosting a meeting in such a tropical region where the sun is so strong?"

Considering this factor we will be likely to have plenty of lively indoor activities during the daytime, in an effort to limit the time spent in the tropical sun. This will also leave our evenings open to enjoy the theme parks or other planned social activities.

You will be receiving full details of the meeting as they develop! Be watching your e-mail for updates! If you were ever to consider attending our conferences DEFENITLY PLAN TO ATTEND THIS ONE!

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Please copy and paste this portion of the newsletter into an e-mail for our office. You can send it to info@bccns.org

In an effort to make our meetings fantastic events for our members of all ages, we would like to hear the opinions of our young people on the following topics:

When I attend a meeting I would most look forward to:

During the meetings I think these would be fun activities:

I would like to hear information on these subjects:

In an effort to better understand the needs of our young members we hope you will complete these questions and statements.

I think the BCCNS Life Support Network could help young people by:

Would you be interested in a pen pal program?

Would you be interested in having young person’s web chat room meetings?

Should the BCCNS Life Support Network have a young person’s contact list?

Would you be interested in having an Internet Bulletin Board where young people could ask questions?

Thank you for your help!

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The BCCNS Life Support Network will be hosting a booth at the McCormick Place Convention Center in Chicago, Illinois October 2^nd through 5^th, 2002 for the American Association of Oral and Maxillofacial Surgeons 84^th Annual Meeting, Scientific Sessions and Exhibition. We will be distributing information on our organization and creating awareness for BCCNS / Gorlin Syndrome as part of our ongoing mission.

Taking full advantage of our presence in Chicago we are happy to announce a social event for our Midwest members. On October 5th, 2002 at 6:00 PM we will be gathering at Ed Debevic’s "Home of Good Food and Fresh Service" for a Dutch Treat dinner. No speakers or lectures, no information session just a social get together for a little early fall fun! We look forward to seeing all of our midwestern members. If you are interested in getting together please respond by e-mail to budcaruso@telocity.com

Ed Debevic’s is located at the corner of Wells Street and Ontario (Restaurant Row) for more information on the establishment here is a link to their website:

http://featuredfoods.com/cgi-local/SoftCart.exe/a-store/c-Ed_DebevicAns.shtml?L+scstore+yblx9845debevicff499049

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On October 26^th, 2002 the BCCNS Life Support Network will be hosting our first Northwestern USA Regional Conference at the University of California San Francisco. We are excited to be the guests of Dr. Ervin Epstein and his staff who will be speaking on the ongoing genetic research, prevention and an update on the Celebrex Study currently underway. The meeting will begin at 9:00 Am for visiting and programs to begin at 10:00 AM. We will have lunch and dismiss at 3:00 PM. We will also be planning a social activity for the evening.

It is crucial that our members and their families support these regional conferences. We go to great lengths to provide informational sessions presented by the top Scientists & Clinicians on the subject of NBCCS / Gorlin Syndrome. If you live anywhere close to the Northwestern / Western States be certain to make arrangements to attend. This may likely be a once in a lifetime opportunity as we have many regions to cover and limited funds for such activities. We look forward to meeting you in person. The event will certainly be worthwhile for you and your family. If you have ever felt alone with this disorder we can assure you there is nothing more healing and inspirational than a face to face meeting with dozens of people who have walked in your shoes.

Be watching your e-mail for full details as they become available.

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A few weeks ago, while working at my computer late into the night I had the television on in the background. I was fortunate to catch the entire movie "Children of the Dark" a story of one family’s journey with children who have the genetic disorder XP (Xeroderma Pigmentosum). It is amazing the similarities between children affected with XP and those of BCCNS. XP children can also develop multiple Basal Cell Carcinomas as well as jaw cysts. It was also stunning to watch what the family went through as a result of their children having the condition.

In conducting research on our disorder I was fortunate to come across and become friends with Sarah Moody the founder of the HED Foundation. HED (hypohidrotic ectodermal dysplasia) is another light and heat sensitive disorder. The HED Foundation provides support to families with HED, XP and related disorders. Occasionally we come across these families and direct them to Sarah and the same for those patients with BCCNS that would contact Sarah, she in turn directed them to us.

Sarah has been personally responsible for helping hundreds of families with these rare disorders. At the conclusion of the movie I thought of Sarah and her work and realized it had been some time since we had talked. I made a mental note to get in touch with her as soon as time permitted.

I was deeply saddened to receive an e-mail the very next day from Sarah’s Grandson informing me of her passing on. Sarah also battled the same disease, which she became an advocate for. Thank you Sarah for your friendship, guidance and all of the help you have provided to your member families.

The HED Foundation will continue to provide services to its members and families with these disorders. To learn more about Sarah and the HED Foundation visit their website: http://www.hedfoundation.org

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Set forth below is an outline of the insurance problems we experienced and the action we took in dealing with it. This approach was very specific to our own situation. However, it may be of assistance for other BCCNS patients in dealing with their insurance carriers.

First some background information. Empire Blue Cross Blue Shield of NY (BCBS) insures us – we have medical, not dental, coverage. We submitted a claim for our son’s oral surgery for OKCs. The surgery was performed under general anesthesia in a hospital and several OKCs were removed. BCBS rejected our claim stating that it was dental. We then appealed the denial and lost on appeal. Our son was then operated on again for OKCs and our claim for the second surgery was also denied. We then appealed both surgeries -- and ultimately prevailed.

Some thoughts:

1. Submit everything. Submit even if you know your claim will be rejected based upon prior decisions. If you submit and then prevail on a later similar claim, you can then ask for a review of the earlier submission.

2. Appeal every denial. In BCBS each appeal goes to a different reviewer or panel. You may prevail with a new forum. We are told that at BCBS they will automatically reject a claim when they are not familiar with the disease. Thus, it is likely that your claim will be initially denied – but persevere!

3. Check time frames. Be familiar with all relevant time limits so that you file your submissions within the permissible period. Do not give them an easy excuse for rejecting your claim.

4. Maintain your files. Keep copies of every document received and submitted to your insurer. Also, keep copies of your medical reports, pathology reports and x-rays, if possible. (In the case of x-rays and scans, if you are unable to get a copy for your files know how to obtain one.) In our case, BCBS wanted copies of various x-rays and reports, which they asked the doctor to provide. Given how busy most physicians are, you can speed the process by providing these documents on your own.

5. Assume their ignorance and educate. Do not assume that your reviewer will be familiar with Gorlin Syndrome or that they will take the time to educate themselves. We submitted a packet of background information containing various pertinent articles with our claims and appeals. We retrieved medical articles from the internet re: Gorlin Syndrome, OKCs, etc which discussed the issues we were appealing. We were advised to highlight the articles to direct the reviewer, which we did.

6. Know why your claim was denied and address this issue. At least with respect to BCBS, they were required to submit a reason as to why they denied our claim. Check if your insurance company is required to do so. Be sure to address the basis for the denial. For example, in our case, we were rejected since they deemed our son’s surgery to be dental rather than medical. We submitted articles and letters from physicians addressing this point.

7. Speak to your physicians for help. We collected letters from our son’s doctors which we submitted. We obtained letters from our pediatrician as well as the oral surgeon. We also wrote a letter ourselves and BCCNS wrote a letter on our behalf. I strongly recommend that we develop model letters that patients can give to their doctors to use as a starting point and to alleviate the burden of writing a letter.

8. Check the code. When submitting your forms, be sure your doctor has the correct code. This is a must! There is an ICD-9 code for Gorlin Syndrome. In our case, for the first surgery our surgeon did not list Gorlin Syndrome – he used a dental code. For the second surgery, we called and insisted that the surgeon use the Gorlin code for the surgery. Ultimately, the second surgery was submitted under the Gorlin Syndrome code, as well as the initial code. The Gorlin syndrome should be the primary code, listed first on the insurance form. For example, in our case our papers were initially submitted under a dental code. Since our insurance was medical and not dental, our claim was automatically rejected. By simply adding the Gorlin code, we were able to get a more substantive review.

9. Call your carrier. Find out if your case has an inquiry number and obtain this number. This information is very useful in trying to get updates as to the status of your case. Also, try to find out who has been assigned your case and contact them. Call them to be sure they got your submission. They also have timetables as to when they must provide a decision – at least at BCBS. Find out this information and be sure to call if you do not have a decision by the relevant date.

Hope this is helpful and if you need assistance please contact BCCNS.

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It’s that time of year again! Many of our young members have just recently started their school year. For most this is a very exciting time. Getting to see their friends from previous years and see how they have changed, meeting new classmates, new clothes, all the school supplies and of course meeting the new teachers! Others (usually a little older) just dread the thought that their summer freedom is ending and having to get into their scholastic routines.

We do have some young members who will be dealing with many treatments and doctor visits during the school year. The thought of their classmates observing them as they go through their medical challenges can be quite troublesome.

A few of our parent members have succeeded in helping their children through this difficult task by making arrangements to visit the classroom on behalf of their child, to present information and explain what it is that their child is facing. They have found their children’s classmates to be very understanding once they realize just what it is that their pier is going through. This practice has proven to be quite beneficial for the kids.

If you think your child would benefit from such a presentation, please contact their teacher(s) and make arrangements to do so early in the school year. If you would like information on what to present and how to deliver the message feel free to drop us a line at info@bccns.org

We hope all of our children enjoy a happy, safe and rewarding school year!

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Here is the second submission in our series "First Person Stories" we hope they will be helpful to our members. By hearing the story of other people journey with BCCNS we believe we will discover how much we all have in common. We also believe there is a great deal to be learned from one another. Enjoy

First let me introduce myself for those of you who don’t know me. My name is Jenni Werkmeister. I live in Northern Wisconsin with my wonderful husband Jon, our two dogs and a cat that adopted us.

I have NBCCS. I am not exactly sure when I was diagnosed according to my mom I was diagnosed in 88, or 89. She took me to the dentist for a cleaning. I remember I took a nap when I got home from the dentist and when I woke up the right side of my face was swollen. We went back to the dentist whom said after taking a pan that I no longer needed a dentist I needed an Oral Surgeon.

He removed the jaw cyst at which time had consumed ¾ of my jaw. (I found out what a Soft food diet was.) According to him he got it all and it would never come back.

In 1990 we moved to Northern Wisconsin from Northlake, Illinois. I told my mom that my teeth were bothering me. She called my first Oral Surgeon in IL asking what she should do. He told her to take me to a new Oral Surgeon Dr. Davis in Marshfield WI. The clinic was three hours from my home. We made an appointment. That appointment and that AWESOME Oral surgeon saved my life. He ran what test he felt were needed on me. One was a full head CT scan. He came back with bad news. The jaw cysts were back that was the lighter side of the bad news. The heavier side was that I had a brain cyst. He was going to send me to neurology to see what they would suggest. He was going to wait until after the brain cyst was handled to remove the jaw cyst. He said the brain was number 1 and the jaw was number 2. The neurologist that I saw in Marshfield sent me to Mayo Clinic in Rochester Minnesota. On December 13^th 1990 the team of doctors at Mayo said my life they gave me a little extra time. For that I thank them.

Between 1990-1999 I had jaw cysts removed. I couldn’t tell you how many I quit counting. I can tell you my sinus cavity has been packed twice. That is one procedure I will never be able to quit counting. I also have had multiply BCC’s removed. I am now trying Aldara Cream to treat my BCC and it appears to be working. I see Dr Davis every two years unless I have problems all I have to do then is call. I see Dermatology every six months and now I go weather I want to or not. I saw a genealogist once he gave me information on NBCCS and told Jon and I that we had a 50% chance of passing this on to our children and or grandchildren.

September 9^th 1999, I was back in Dr. Davis for I believe a two-year check-up we had finished with the full head CT scan earlier that day. He came in and looked me over and said that the jaw cysts were back. Not the greatest news in the world BUT…. Then he also said that the brain cyst was back and he wanted me to see a Neurologist. I decided one Neurologist wasn’t good enough. I saw one in Marshfield who said come back and see him in two years. I didn’t like that answer so I went to Mayo. They said come back and see them in six months. My team of doctors at Mayo says if it isn’t affecting anything then we will keep monitoring it. If (I say when) it grows or if it seems that it is giving me problems then we have to remove it. I will be at Mayo for my yearly check-up on September 5^th, and 6^th.

After finding the second brain cyst in less then nine years and more jaw cysts and these troublesome bcc that the Dermatologist kept cutting off of me. Can’t forget being told I was rare at first I thought that was a good thing. Then I got lonely! Plus thinking that this is heredity and having a nephew born with a cleft lip/palate. I was a very scared young lady who had something that I wasn’t sure what it was and I was hungry for information. I wanted to find information that I could understand about NBCCS. It was time I made some decisions about my life. Jon and I also had decisions we had to make as a married couple.

Jon and I sat down and went over what we knew about the syndrome about our lives. We decided as a couple that because of the syndrome and my medical hurtles, and the 50% chance of passing this on. We were not going to have kids. We told our selves then that there was always adoption, or foster care. I\ we decided that I would have my tubes tide November 1999.

With the encouragement of my husband and A LOT of help from my mom we searched the www. I kept hitting dead end walls and was about ready to give up. (I usually NEVER give up) Ok let’s not say give up I was thinking about starting my own support group. When my mom found the group in England, Jim encouraged us (mom and I) to try to get a hold of in the States with NBCCS. From our contact with Jim we then contacted Mr. Ren Bradley. Oh it was amazing have Ren here in the States say he understood what I was feeling. Ren told us about a Kristi Burr in Ohio whom we should contact. Then Jim sent me an e-mail informing me that there was a web site that he thought I should check out. Guess who was there?!?! Yes that was where I found Bud Caruso. Then I realized I am not alone!!!

I have attended two US retreats and been to a yearly meeting in England since that time. I have become the Band-aid-Bear Club President for the BCCNS Life Support Network. I have gained many sisters and brothers in the name of NBCCS whom I love and they now and forever hold a special place in my heart.

I am hoping that with the Retreat in Orlando in April 2003 my father, and paternal grandma will join Jon and I as well as my mom, and Duane. And HOPEFULLY with all of us together in Orlando and me being surrounded by my family we will be able to find out if I got this from my dad. (For the record I think I got it from my dad.) Or am I a new mutation. Come to Orlando and find out with me.

I already know that I have NBCCS the reason that it is SO important that I know where it came from is that I have nieces, and nephews, brothers, and sisters that need to know the truth.

Thanks Jenni & Jon!

If you are interested in publishing your "First Person Story" contact Maria Michalowski by e-mail at mmski83@hotmail.com

Thanks Maria!

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The question came up in Ohio as to how many Patient Surveys had been completed to date. Not having an accurate count with me I inadvertently under quoted the number of surveys that we have received. In fact, we are rapidly approaching the 100 mark where we will compile the data and publish the results. We anticipate the results will be unveiled at our upcoming meetings and published in our next newsletter. If you are interested in participating and having your information included in the literature you will need to do so ASAP! It is easy to accomplish simply visit our website and complete the form electronically and click on submit!

Here is the link to our Survey Page http://bccns.org/Survey.htm

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For those of you who may have never had the opportunity to visit our Internet Bulletin Board "The BCCNS Life Support Network Patient Forum" or for those of you who may not have visited the site for some time we encourage you to log on and read some of the 3,523 messages now posted from over 100 active posters! We are certain many of these messages will give a variety of opinions on topics related to BCCNS / Gorlin Syndrome.

Here is the link: http://forums.delphiforums.com/Gorlinsyndrome/start

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