Proteus Syndrome Newsletter

THE PROTEUS FOUNDATION NEWSLETTER

A Publication of The Proteus Syndrome Foundation, Inc. Vol.1, No.1 Spring 1997

WELCOME!

It is with great joy that we publish the first issue of the Proteus Foundation Newsletter. The purpose of this newsletter is to bring us all together. The most important thing we can give each other is the power of knowing that we are not alone. Together we can support each other, share our happiness and triumphs, and let each other know that we care. This is your organization. We need you to help us shape it to meet your needs, to benefit from your experience. Please let us know what you want to hear, what you want to learn, what you are willing to share. If each of us contributes just a small amount of time and funds, we can change the world for ourselves and our children.

INSIDE:

What is Proteus syndrome?

Proteus Syndrome is a condition which involves atypical growth of the bones, skin, head and a variety of other symptoms. This condition was first identified by Michael Cohen Jr.,DMD,PhD., in 1979. In 1983, a German pediatrician, Has Rudolf Wiedemann, named it proteus syndrome, for the Greek God Proteus "the polymorphous" presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome. At this time there are approximately 90 documented cases worldwide. However, not all cases of proteus syndrome are documented cases, therefore it is unknown how many individuals have this syndrome. It has been suggested that Proteus Syndrome is the condition that Joseph Merrick (known as the Elephant Man) had, rather than neurofibromatosis as was initially suggested.

MESSAGE FROM THE EDITOR

My name is Kim Hoag. My son Alexander was born with Proteus Syndrome. He was correctly diagnosed at 6 mos. old. My husband and I were given some articles about the syndrome and were sent on our way. I remember we both cried so long and so hard for our beautiful baby boy, how could this have happened?

We didn't know where to go or who to turn to for help. We read all the articles that were given to us, unfortunately they didn't seem to have the information necessary to help us with Alex. We had no idea what to expect. Do these children have problems recovering from surgeries? Should we operate on the overgrowths? Should we expect a long life? Should we prepare ourselves for the worst? How do we handle this? Are there others out there that can guide our way? These are questions that we asked ourselves over and over.

I finally contacted a doctor that published one of the articles and asked her some of these questions. Unfortunately, she did not know many of the answers because nobody had compiled any information about this syndrome. The reason for this was simple, there were not enough cases for any one doctor to spend a substantial amount of time working on these answers. Most doctors will never even see a child affected by this syndrome and those that do more than likely never see two. She suggested to me that I begin a support group, in the hopes of getting enough people with proteus syndrome together. This group possibly could interest doctors in helping us with our cases. So that is what I am doing. I think it is very important that we stand up and be recognized. Unfortunately my time can be a bit limited due to raising two, soon to be three little boys, doctors appointments, work, and everything else that constitutes living in the 90's. So please forgive me if it has taken longer than expected to get this newsletter together. Anybody who has any contributions they would like to make to the newsletter are welcome to do so at any time! If you would like to submit pictures or questions for the board of directors to look over and try to answer please feel free to do so. I hope we can fill the following newsletters with questions, answers, information, inspiration and love.

PROTEUS SYNDROME FOUNDATION BOARD OF DIRECTORS

PRESIDENT: KIM HOAG
SECRETARY: MARY TIMMERMAN
TREASURER: BARBARA KING

MEDICAL ADVISORY BOARD

Michael Cohen, DMD.PhD. Geneticist Dalhousie University, Halifax,Nova Scotia, Canada
Robert J. Gorlin, DDS. Geneticist University of Minnesota, Minneapolis
R.Neil Schimke, M.D. Clinical Geneticist University of Kansas Medical Center, Kansas City
Debra L. Collins, M.S. Genetic Counselor University of Kansas Medical Center, Kansas City
Mary Nagy, M.D. Pediatrician Lenexa, Kansas

The Proteus Foundation was founded to educate, support and raise money for grants and research toward finding a cure for children and families living with this syndrome.

The Proteus Syndrome Foundation's efforts are dedicated to the loving memory of Patrick Conlin King 3/24/87-10/9/92

ALEX & COOPER BROTHERS/BUDDIES

FUNDRAISING Fundraising is going to be a very important issue if we want to get this foundation off and running on the right foot. I know it seems difficult to ask others to contribute money to help you with your problems. At first I felt the same way.
REMEMBER, this syndrome affects possibly hundreds of people around the world, therefore you are helping every one of us.
In the three fundraisers I have organized I have raised over 13,000 dollars!!! Our treasurer Barbara King and her husband John have also raised several thousand dollars for our foundation!! Due to this success we are able to offer families affected with proteus syndrome financial assistance to attend the proteus syndrome clinic being held at the National Institute of Health, in Bethesda, Maryland. With very little trouble, and no out of pocket expense to your self you can organize a very effective fundraiser which can turn out to be very profitable and lots of fun. There are golf tournaments, garage sales, auctions, raffles, local businesses who will donate etc..... See last page for more info.

SHORT-TERM GOALS

Make a complete database of all families we can possibly contact throughout the world, by using the internet, the mail, doctors, and word of mouth. This database will enable doctors and families to get as much information as possible before they make choices concerning surgeries and therapies. This will hopefully eliminate some of the "guess"work we all go through attempting to treat the symptoms of this syndrome.
Completing our family directory. This directory contains names, phones #'s, addresses, and a brief description of patient. We will mail one to all members of our organization. This is our own personal phone book of families we can all call at anytime for support or questions.
Scientific Collaborations: This goal is being attained in the present thanks to Dr. Leslie Biesecker and Dr. Michael Cohen at the National Institute of Health. The first proteus syndrome clinic is being held the last week of April and the first week of may. The purpose of the clinic is to gather information for a research project underway on proteus syndrome and other rare genetic conditions. The laboratory part of the study will involve trying to discover the genetic cause that causes this disorder.

SCOLIOSIS QUESTIONNAIRE

Periodically a doctor may request information from our organization to compile his own database to help patients. We greatly appreciate the interest in proteus syndrome and will do our best to help the doctors get information. Dr. Mark Asher at K.U. Medical Center in Kansas City, KS. has requested information about scoliosis in patients with proteus syndrome. Please take the time to answer these questions to help doctors make better recommendations for scoliosis maintance in proteus syndrome. RETURN QUESTIONAIRE TO: Kim Hoag 609 S.E. Mt.Vernon Dr. Blue Springs, Mo. 64014 or e-mail to abscit@aol.com

Do you or your child have scoliosis due to Proteus syndrome?
Please describe any bracing that has been used, along with any complications, and successes from the brace. Please include the type of brace and how well and how long it controlled the curve before surgery was needed.
Have you had surgery for scoliosis?
If the answer to #2 is yes, please continue:
A. What type of surgery did you have for scoliosis?
B. Did you have any complications with the surgery?
C. If so what and how were they cared for ?
Where was surgery performed?
Who was you orthopedic dr.?
NAME
ADDRESS
PHONE
Has the surgery been successful?
Please return this questionnaire as soon as possible, even if the answer to #1 is no so we can get an accurate account of how many with Proteus have been affected with scoliosis and how it has been handled.

FAMILY SHARING

THE COURAGE OF A CHILD In November of 1970 our family was looking forward to the arrival of our third child. On November 25,1770 we were blessed with our third son. We named him David after King David in the Bible. Little did we know then that he would possess great courage as did his name sake. Our other sons, seven and eight at the time were excited to have a new baby brother in the house. They could hardly wait to teach him to play ball, fish and do all the things that little boys like to do for fun.

Soon after we brought him home from the hospital david developed Colic. He would cry for hours. His little stomach hurt so bad. As with any parents, we only wanted David to feel better. This went on for three months. We tried many treatments but only time took away the colic. It was during this time that we discovered a large growth in David's abdomen. This was the first sign that something was seriously wrong. Here was our baby son who we loved so much and we didn't know if he would live or die.

We prayed that God would give us strength to cope with what was happening, but more over to give David the courage and the strength to endure all that lied ahead for him. A benign tumor the size and shape of a small banana was removed from David's abdomen. The doctors were wonderful throughout the whole ordeal and we thanked God for all they did for David.

At the age of four David was diagnosed with Neuro-fibromatosis(N.F.). Over the next several years he had to undergo seven more surgeries and we worried, of course as all loving parents would, how David would recover. But over time his wounds did heal beautifully.

When David was fourteen, the doctors ran an extensive battery of tests. They discovered that he had been misdiagnosed with N.F.. Through these tests they were able to determine that David suffered from Proteus Syndrome. The Doctors explained that since there was little known about Proteus Syndrome it was easily misdiagnosed.

We always believed that David, though having this disorder, should be treated like any other child. And that's the way David grew up, playing little league and other sports just like other children in America. He was our shinning star.

As loving parents we all want to protect our children from as much as we can. Unfortunately we can't always do that. There were many times when the other kids would make comments or stare at David's legs. This would upset him and many times anger him. We did our best to explain that others didn't understand and that he had to let it go. The mental anguish that our son had to endure over the years because of his disorder was heartbreaking. David had to wear special made shoes, one having an extra 3-4 inch sole so that he would be able to walk with out a limp. He would cry and say he wasn't going to wear them. We told him he had to and I'll never forget what he told me when he was 5 yrs. old. David looked at me crying and said "What if it was you?" I held him in my arms and we both cried. Deep down I wished that it had been me instead of David. It was so painful for me to see my son suffer the way he had because of this disorder and I just wanted to take all the pain away.I didn't know what caused this infliction. I thought it may be my fault, but I just didn't know how.

David is now 26 years old and things are starting to level out for him. He has grown from our precious little boy into a fine young man with hope for the future. There have been more surgeries, more challenges, many ups and downs. We prayed a lot and our prayers were answered. David has overcame many challenges in his life and has kept going. This has made him what he is today, a caring and sensitive young man. I look back over the years of what we as a family have been through and know it was with the help of God that we made it. Davids courage helped us all overcome the rough times. We thank God each and every day for all that He has given us in David.

Mary Timmerman St. Louis, Mo. March 13, 1997

Mary is the secretary of the proteus syndrome foundation. I wish to thank her very much for this wonderful letter..

Please feel free to submit your own personal experiences.

COMMON SIGNS OF PROTEUS SYNDROME

Partial enlargement of the hands and/or feet, usually asymmetric.
Pigmented nevi(darkened, discolored skin) throughout the body. The skin is often raised and rough.
Subcutaneous tumors (beneath the skin): usually on the skin surface, resemble lymph gland tumors (lymphangiomas), and occasionally, fat cell tumors (lipomas). They can develop and grow rapidly, but can also remain unchanged or even show some signs of regression.
Skull anomalies: macrocephaly (large head) or asymmetry of the skull due to hemihypertrophy may be present.
Plantar hyperplasia: deep lines and overgrowth of soft tissue on the soles of the feet.

PROTEUS SYNDROME CLINIC

The National Institute of Health in Bethesda, Maryland will be holding the first ever Proteus syndrome clinic during the last week of April through the first week of May. Dr. Michael Cohen who first identified Proteus Syndrome in 1979 and who has done extensive research and documentation on this syndrome will be participating in this event. The purpose of the clinic is to gather information for a research project underway on Proteus syndrome and other rare genetic conditions. Those who participate in the clinic will be enrolled in this research project. This project is headed by Dr. Leslie Biesecker. This is the first chance that families effected with proteus syndrome will have a chance to meet with other families. For families who cannot attend we will be making a video tape and taking notes so nobody will miss out!! For further information about the clinic, please contact Kathy Peters,M.S. Genetic Counselor National Human Genome Research Institute National Institutes of Health 301-402-9653 e-mail: kpeters@nhgri.nih.gov

DICTIONARY

Reading the literature about Proteus syndrome can be very trying unless you have a medical degree. Susan Beachler has come up with a solution for this problem. She has made a pamphlet called "Terms and Definitions often associated with Proteus Syndrome". This includes simple explanations for terms we often encounter in the literature. To print and mail this pamphlet the cost is approximately $3.50. To order this pamphlet write to: Susan Beachler 5208 W. 900 S. Wabash, Ind. 46992 219-569-9009 DONATIONS ARE WELCOME

FAMILY DIRECTORY

The Proteus Syndrome Foundation is in the process of developing a family directory to mail to all families in the support group. The directory will list families according to state or country of residence and alphabetically. We also would like to provide some information about the individual with proteus syndrome. This resource will enable families to make contact with others living near them and with families sharing a common bond. If you are interested in being listed in the Family Directory please contact: Susan Beachler 5208 W. 900S. Wabash, Ind. 46992 219-569-9009 7

LEND YOUR SUPPORT

Proteus Syndrome Foundation, Inc.

I am interested in supporting Proteus Syndrome Foundation, Inc.

Membership - $25 per family
Donation: $______________________
Memorial______ In Honor Of:_______________________________________

Name:___________________________________________________________

Address:_________________________________________________________

City:_______________________________State:__________Zip:____________

Phone: ( )______________________________________________

Child_____ Other Relative_____ Educator______ Friend___________
Health Professional_____ Physician_________ I Have Proteus Syndrome_____

Please make check payable to Proteus Syndrome Foundation, Inc. and mail to 8485 Dulwich, Cordova, Tenn. 38018. All monies received by PS,Inc. are tax deductible and go to support education research and support services for those affected by Proteus Syndrome and their families.

In an effort to improve the quality of life for our family and friends with proteus syndrome, we welcome ideas from our readers on various techniques of management and care, general and educational suggestions that individuals have investigated and/or found beneficial. This exchange of ideas is welcome. Parents and others have the opportunity to decide if they want to follow through with the suggestions. We do not, however, as an organization, support or endorse any particular treatment, therapy, or medication. We encourage parents to support one another with suggestions and to contact their child's phusician for final approval.

PATRICK CONLIN KING

Please return any questionnaires,contributions, articles or family stories that you would like published in the newsletter to:

KIM HOAG 609 S.E. MT. VERNON DR. BLUE SPRINGS, MO. 64014 unless otherwise instructed

We will be publishing a spring, fall, and winter issue of the Proteus Syndrome Newsletter. In the event that important matters arise in between these publishings we will send out Family News Bulletins to keep everybody current.

Any pictures submitted for publishing can be returned to you.

THE PROTEUS SYNDROME FOUNDATION INC, IS A NATIONAL NON-FOR-PROFIT ORGANIZATION DEDICATED TO INDIVIDUALS AND FAMILIES AFFECTED BY PROTEUS SYNDROME AND RELATED DISORDERS.

PROTEUS SYNDROME FOUNDATION 609 S.E. MT. VERNON DR. BLUE SPRINGS, MO. 64014. E-mail: abscit@aol.com

To locate a genetic counselor, or clinical geneticist in your area:

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