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An online version of the Newsletter Publication from The Proteus Syndrome Foundation, Inc. Vol.1, No.2 Fall 1997

THE PROTEUS SYNDROME FOUNDATION NEWSLETTER


609 S.E. Mt. Vernon Dr.
Blue Springs, Mo. 64014
(816)229-9132 / (901)756-9375
E-mail: abscit@aol.com


/gec/support/proteus.html

A Not-For-Profit Organization
PROTEUS SYNDROME FOUNDATION

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 120 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.

OUR MISSION STATEMENT

The Proteus Syndrome Foundation has been founded to educate, support, and raise money for grants and research toward finding a cure for individuals living with Proteus syndrome.

We are a not-for-profit organization.

INSIDE:

MESSAGE FROM THE EDITOR

It has been a very crazy summer!! I recently gave birth to my third son, Ian Taylor Hoag; everything is wonderful with him and I couldn't be happier. I have also had the opportunity to watch this organization grow from a group of fifteen to over 45 families. Our mailing list is literally growing every day with people that are personally affected by Proteus syndrome, or from doctors that want information, and people that simply want to offer their support in any way possible. Email has been coming in from Ecuador to Australia to France to England to Belgium and the list goes on.

We are also starting to open chapters of the Proteus Syndrome Foundation around the world. This is going to make networking families in other parts of the world so much easier to accomplish.

I am very happy to announce that the leading researcher on Proteus syndrome at the National Institutes of Health, Dr. Leslie Biesecker, MD, has agreed to sit on our medical advisory committee. He and his wife Barbara are very kind and special people and I am very pleased to have him aboard!!

I would like to thank a person who has helped me in every facet of this foundation. Her name is Debra Collins, she is a genetics counselor at Kansas University, and also on our board of directors. I have been driving her crazy for years! She has helped me from day one with this organization in everything from spending a whole day in her office doing the brochure, to editing my work, to getting us on the internet. I could not have done any of this without her assistance. I thank her with all my heart!

December and January are going be dedicated to completing the family directory. I feel this is the first way for families to start communicating. This directory is strictly for families. It will not be published on the internet or given to doctors. I want to urge every family to be listed on our database, even if they choose not to be in the directory. I realize some families just are not ready to network with other families and that is perfectly acceptable. Please know that you can still get a copy of the directory even if you choose not to be listed.

A special thank you goes out to the families that have sent me articles to print in this newsletter. Also a special thank you to Brian Richards, a 13 year old with Proteus, for his excellent fundraising. Keep it up kiddo, you're great!!!!! Also to everyone that has sent donations to keep this organization running thank you from the bottom of my heart.

I hope this newsletter is helpful to everyone. Please do not hesitate to send me your stories and medical advice for other parents. Remember, what you have been through could possibly benefit one of the other families. Please share, People can learn from your experience!

MEDICAL ADVISORY COMMITTEE

Michael Cohen Jr., DMD, PhD.
Geneticist
Dalhousie University
Halifax, Nova Scotia, Canada
---------------

Leslie Biesecker, MD
National Institutes of Health
National Human Genome Research Institute
Betheseda, Maryland
---------------

Debra L. Collins, MS
Genetic Counselor
University of Kansas Medical Center
Kansas City
---------------

Robert J. Gorlin, DDS
Geneticist
University of Minnesota
Minneapolis
---------------

R. Neil Schimke, MD
Clinical Geneticist
University of Kansas Medical Center
Kansas City
---------------

BOARD OF DIRECTORS:

PRESIDENT
Kim Hoag
mother of three

SECRETARY
Mary Timmerman
mother of two
---------------

TREASURER
Barbara King
mother of two
---------------

---------------
Charlie Bargiachi, CPA
Brian Kuhn, Attorney at Law
---------------

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

NETWORKING

The Proteus Syndrome Foundation has its first chapter. The United Kingdom now has a support system for Proteus syndrome. This group has been started by Tracey Whitewood-Neal and Sandra Rich. They have put together and published their first newsletter and have had their first fundraiser. At the present time they have nine families on their database. We will be working very closely to make sure that all families receive the most accurate and up to date information about Proteus syndrome. I am so glad that these two ladies have taken the initiave to do this because I have received quite a bit of e-mail from Europe searching for support. We will maintain one master database with all the families and any information provided from those families will be kept on this database. This way we can network the families dealing with the same problems in an efficient manner.

We are looking forward to incorporating a Central American and a South African chapter of the Proteus Syndrome Foundation in the next year!

Tracy and Jordan Whitewood - Neal

To contact the U.K. chapter :
The Proteus Syndrome Foundation of U.K.
46 The Croft, Hastings
East Sussex, ENGLAND TN34 3HH
e-mail: tracey.whitewood_neal@virgin.net

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

PHONE PALS

WOULD YOU LIKE TO BE A PHONE PAL WITH ANOTHER PROTEUS CHILD? A GREAT WAY TO MEET AND GET TO KNOW THE OTHER KIDS!!!

WE HAVE SOME GREAT KIDS IN THIS SUPPORT GROUP AND I THOUGHT THIS WOULD BE A GOOD WAY TO GET THEM TO BE BUDDIES.

IF YOU WOULD LIKE TO BE ON THE PHONE PAL LIST, CONTACT THE PROTEUS SYNDROME FOUNDATION AND WE WILL GET YOU TALKING!!!!!!!

RESEARCH APPROACH TO PROTEUS SYNDROME

by Dr. Les Biesecker, MD.
National Institutes of Health

Individuals with Proteus syndrome and their parents tell us that it can be frustrating to deal with the medical system because of the lack of knowledge about the disorder. There are some frustrations that we cannot hope to resolve, but ignorance is one that can be solved. The way to combat ignorance is with knowledge, and knowledge is generated through research. It is our goal to address this need by studying patients and families affected by this disorder in a multifaceted way so that physicians and counselors can meet the needs of persons affected by this disorder. Here I will outline some of the research goals for Proteus syndrome.

1) Diagnostic Criteria. It is clear from our preliminary work that it is difficult to correctly diagnose patients with Proteus syndrome. In our first 18 patients, nearly half whom came with a diagnosis of Proteus syndrome had another disorder. In addition, many of the patients had held one or two other diagnoses before being diagnosed with Proteus. This diagnostic confusion is very stressful for the families and affected persons. Our goal is to develop diagnostic criteria that will reduce the confusion and make the disorder easier to diagnose.

2) Natural history. We need to understand what complications to expect in persons with Proteus syndrome. In this way, patients can be properly monitored to detect problems early and offer the best available treatment. In our first group of patients we learned that overgrowth of the spleen is part of the disorder and that this should be monitored and proper treatment offered.

3) Counseling Issues. We have learned early in the study that Proteus syndrome can cause major stress in affected families. Because the disorder can have progressive disfigurement, parents and affected persons are apprehensive and may benefit from support. Our goal is to study in detail the stresses, challenges and needs of affected persons and families and develop appropriate ways to respond to those needs.

4) Cause. Understanding the cause of Proteus syndrome is important for several reasons. First, if a molecular cause can be found, it may be possible to develop a simple blood test for the disorder. Second, knowing the cause can help to understand how complications arise. Third, knowing the cause allows development of research to find treatments or cures.

5) Treatment. Effective treatment is one of the final goals of the research and there is reason to hope for cure. Such a goal may be a long way off, and may not come in our lifetimes, but is worth pursuing with vigor.

All of these advances can only be achieved with the active participation of individuals and families affected by this disorder. But research is not for everyone. We encourage families to carefully consider the benefits and risks of participation and make an informed decision. The path to understanding and treatment of Proteus syndrome may be long and difficult. However, it offers families and affected persons hope for the future, something that is inspiring and energizing for everyone involved with this rare and puzzling disorder.

A Letter From Our Treasurer, Barbara King

I first came into contact with Kim Hoag, our foundation president, after reading about the newly-formed Proteus Syndrome Support Group in Exceptional Parent magazine. This was in August or September of 1992. Kim later asked me to hold the office of Treasurer. There were so few families identified at that time that there wasn't much competition for the job. My, how we have grown.

As your treasurer, it is my responsibility to keep a record of all financial transactions and to help make decisions on how our money is spent. At the present time we have approximately $11,000 in the bank. All of the money has been acquired either through fund-raising activities or donations from individuals and groups. All money raised does and will go directly to maintaining the foundation and towards achieving our goals. All the work done at the Proteus Syndrome Foundation is on a strictly voluntary basis.

Since the primary purpose of our organization is to support research, education and general family support, we are unable to fulfill some requests for assistance. That was the case recently, but I want to share the solution we came up with.

A Proteus child, Sean Henderson, was featured in a newspaper article which mentioned the fact that he needed a new computer. A mother of two very healthy boys read the article and wanted to donate a computer to Sean. In order to receive a tax deduction for the gift, she requested that she be able to give the computer to the Foundation and have it passed along to him. Our by-laws do not allow us to engage in this type of transaction, but a United Way program called "Gifts In Kind" was pleased to make the transfer. We cannot thank them enough. This is just one example of how we can help solve problems not in our immediate control.

Please remember the foundation when memorializing or honoring a loved one. It is so easy to forget about 'us' when so many well-known organizations are frequently in the spotlight. I am available to assist you in any way that I can, so please do not hesitate to call me at (901)756-9375.

My name is Lindsey Henderson and I have an 11 year old son named Sean with Proteus. We live in San Francisco and have been receiving treatment at the National Institutes of Health. I wanted to let everyone know that I am involved in two fund-raising projects to benefit the Proteus Syndrome Foundation. The cast of the San Francisco Phantom of the Opera has offered to do a benefit performance. I will be meeting with cast members in November to give them information on the foundation and to set up a date. The other project is a fun-run through Golden Gate Park in the spring. This will be a big undertaking and I am very excited to be involved with this. We have several offers of corporate sponsorship as a start. I have never done any form of fund-raising before and am really looking forward to learning about this process. What I have come to realize is that people really want to help a worthy cause and just need to be asked!!! If we can motivate other families to take on a fund-raising project in their town, pooling our resources, talents and information, I believe we can not only get the word out on this obscure disease but support each other on this journey we are all on. If anyone has any information that they would like to share, please do not hesitate to contact me.

E-mail: Lindseyhenderson@hotmail.com
(415) 751-4295
186 Stanyan #3
San Fransico, CA 94118

FAMILY DIRECTORY UPDATE

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 alphabetically and according to state or country of residence. 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.

This Directory will only be made available to families or persons that are living with Proteus syndrome.

If you would like to be included in the directory, please send the following information to the Proteus Syndrome Foundation:

Name, Address, Phone, and if you feel comfortable a brief description of the Proteus symptoms.

THE DIRECTORY WILL GO TO PRINT FEBRUARY 1998 SO PLEASE HAVE YOUR INFORMATION IN BY JANUARY 1,1998.

CLINICAL FEATURES OF PROTEUS SYNDROME

GROWTH:

SKELETAL:

SKIN:

Tumors may develop and grow rapidly, remain unchanged, or show some signs of regression.

SURGICAL INTERVENTIONS ON A PROTEUS CHILD

by Gary and Brenda Richards

Proteus syndrome is a rare genetic disorder manifesting itself in a variety of ways. One of the most noticeable consequences in Proteus children is abnormalities in bone growth; everything from bony bumps where they don't belong to uneven bone growth (like uneven leg length), asymmetrical bone growth, giantism of toes or fingers, curvature of the spine, fingers, and toes, and thickened or abnormally-shaped joints. Benign fatty tumors, known as lipomas are also frequently observed in Proteus patients. The skin of Proteus children can be of unusual texture, particularly on the soles of their feet, and, in the case of our son, under the armpits. There are different degrees of symptoms among patients, probably determined by how early in fetal development a mutation took place in cells differentiating into bone, skin, etc. It is believed that Proteus syndrome originates from a mutation in one or a few critical cells in the developing fetus, mutations caused perhaps by environmental contaminants like pesticides, petroleum hydrocarbons, and radiation that the mother may have come in contact with during the early stages of pregnancy. It has become clear that Proteus syndrome is not inherited from the parents, so parents with a Proteus child would not be likely to have additional children with Proteus syndrome. I (Gary) will cover more of the science of Proteus syndrome in future newsletters, but for now, Brenda and I would like to provide information that you and your doctors may find useful in treating people with Proteus syndrome. We will document some of our experiences related to the surgical treatment of our son.

From the onset, it should be noted that a parent should not jump to surgery without consideration of several important factors such as:

1. Is the surgery absolutely needed at this time?

2. Will the surgery correct the problem permanently or have to be repeated?

3. What are the potential pitfalls of surgery?

4. Will your insurance coverage pay for the surgery, especially if it is for cosmetic reasons?

All parents have the tendency to want their children to be perfect in every way. With Proteus children, parents must accept that there will be some degree of abnormalities in appearance and these are best resolved after the child has finished growing, unless there is an immediate need to correct the defect. For instance, a bump here and there on the head may be tolerated in early life and operated on in later life, unless the bump is over the eyebrow and interferes with the normal movement of the eyelid, thus affecting the child's vision. Lumps in the outer ear canal may be tolerated until they interfere with hearing, at which time surgical intervention may be warranted. Likewise, fatty tumors can be left indefinitely unless they are in an area where their presence causes difficulties (around the belt line, under the arm, in the groin, on the bottom of a foot, etc.).

The following discourse was assembled by Brenda and is intended to inform parents and patients of our experiences with a Proteus child. The surgeries that were performed and the outcomes, good and bad, are discussed. It should be stressed that the family should work with the doctor to determine the best course of action in treating a Proteus child. Since the syndrome is so rare (still around 120 cases worldwide), not even the doctors know much about the syndrome and some doctors have never heard of it. The fact is that parents and patients often become the best local authority on Proteus syndrome. Use your local doctors as tools in determining the best course of action for your child. Read and learn as much as you can on Proteus syndrome so that you may make decisions based on the best information available, not on the gut feeling of your doctors.

One of the major problems of having a child with Proteus syndrome is not being able to find information you need to make informative decisions. When considering whether or not specific surgery is warranted or, if you should leave well enough alone, there is very little literature on the results or complications from these surgeries. In talking to Kim Hoag, we spent much time comparing notes on what has worked and what hasn't, and as many of you already know, our children are subjected to frequent surgeries often recommended by physicians and surgeons who have never dealt with a Proteus patient. We have learned over the last ten years, that surgery is not always the best option. There is a need to be conservative in surgeries which involve bony growths as surgery appears to increase the growth rate of the remaining bone, leading to the need for more frequent operations and potential complications.

Our son, Brian, is 13 years old and was diagnosed with a relatively mild form of Proteus syndrome when he was three. He had a linear sebaceous nevus (congenital pigment discoloration) on his neck, and a hemangioma (a collection of many blood vessels) on his side and "funny little toes" when he was born, but over all, he was a normal-looking child. At 18 months, he had 2 lipomas (fatty tumors), which were encapsulated, removed from his chest and abdomen without any problems. When he was three, we returned to the same surgeon to discuss an operation on what the surgeon thought was a hydrocele or hernia, as Brian's scrotum was quite large. The surgery was performed, and the problem turned out to be a large, not encapsulated, lipoma, which filled the scrotum and pubic area. All of the lipoma could not be removed because of the testicles and spermatic cord, which were left intact. The lipoma tissue has essentially grown back in the scrotum, and while it is not painful for him, Brian does prefer to wear loose undergarments. We have been advised not to attempt another surgery.

The majority of Brian's problems and resulting surgeries have been due to bone abnormalities, although he also has his share of lipomas, which are mostly on his toes. He has giantism of some of his toes and curved fingers, the left hand worse than the right. He has had two surgeries on exotosis, osteomas (bony tumors) in the eyebrow area, which protrude outward. One surgery was performed when he was 7 and then had to be redone when he was 11 years old. The exotosis have grown back again and will probably have to be redone in the next couple of years. Of course, cosmetically, the surgeries improved his appearance, but they also had to be done because the large protrusions were interfering with the opening of his eyelids. A plastic surgeon, Dr. Richard Hagerty, performed the surgeries, which were done by making an incision over the head, from one ear to the other, and sliding the skin over the forehead down in order to grind down the exotosis. This is a common procedure for face lifts, except they do not usually involve any bone removal, just cutting and tucking. Before each surgery, Dr. Hagerty, ordered an MRI (magnetic resonance imaging) be done, in order to calculate the extent and depth of the exotosis and make sure no other masses were involved. We were warned each time about the trigeminal nerve that runs down the side of the face, which could be damaged, but Brian had no problems with that, and has no problems making facial expressions or opening and closing his eyes. The incision line over his head healed well, but no hair grows in that inch-wide incision, so Brian wears his hair a little long to cover that gap. Brian recovered from these surgeries rapidly with only moderate pain.

Another surgery that we have had repeated involved osteomas, which developed in Brian's left ear canal. The first one was removed when he was 7 years old, and the doctor was astounded as the osteoma essentially broke off at the base and not much had to be done. A year later, Brian had another osteoma removed from the same ear canal and the ear canal had to be revised due to some extensive surgery he had earlier that year. Brian again has a large osteoma, which is sometimes mistaken as a hearing aid, in the outer left ear area. We have learned to avoid surgery as long as the osteoma is not interfering with his hearing and the doctor can still get in the canal to clean the wax.

A major surgery that we had to deal with probably could have been prevented, if our son didn't have Proteus. In 1991, Brian developed swimmers ear in his left ear. The infection worsened into chronic otitis media and antibiotics did not clear up the infection. Brian started to have bad headaches in the front of his head. They were always worse in the morning and were not relieved by analgesics. We continued to see the ear-nose-throat (ENT) specialist and questioned him about the relationship between the headaches and the ear infection. The doctor felt the two symptoms were not related because of the position of the headaches. Brian began having episodes of vomiting due to the severe headaches. He also developed blurred vision. The physician continued to deny there was a relationship because the headaches were located in the front instead of over the ear area. Brian also became cross-eyed and his pediatrician strongly suspected mastoiditis. The ear infection persisted for almost 4 months, with the headaches occurring about 2 months before the ENT doctor ordered a CATSCAN (CT) of the head and ear. The result of the CT Scan indicated mastoiditis. The doctor did not agree with that diagnosis, so another CT Scan was done a week later, with the same diagnosis. The specialist continued to disagree with the results and we requested an evaluation at the Medical University of South Carolina. Dr. Warren Adkins and Dr. Bruce Storrs from ENT and Neurology, respectively, reviewed the CT Scans and then had an MRI done showing severe mastoiditis (infection of the sinus area surrounding the ear) and petrisitis (infection of the petrous bone located in the brain area). The following day, Brian had a left mastoidectomy, meatoplasty and petrisectomy and was hospitalized for 3 weeks. He had to continue antibiotic therapy for an additional 5 months (3 months of antibiotics was intravenous) at home and while at school. The result of that infection and the subsequent surgeries has created a situation where the ear can no longer cleanse itself of wax build-up, so Brian must go to ENT every 3 months to have his ear cleaned by suction and manual extraction of the wax with small instruments. Brian also cannot get water in his ear or go under the water because the pressure will rupture what little ear drum membrane he has left. The long-term antibiotic therapy eliminated the normal bacteria in Brian's intestinal tract, resulting in colitis and an intolerance to lactose. He still must monitor his diet and uses a lactose-enzyme supplement in order to eat some dairy products. The major thing we learned was our child does not always have the same symptoms as another child would, because of the unusual bone and sinus formations caused by Proteus. MRI and CT Scans have indicated underdeveloped sinuses, unusual blood vessel formation and bony protrusions in the head and skull.

Brian's right leg had grown to be almost two inches longer than the left by the time he was 4 years old. This was compensated for, in part, by adding a lift to his left shoe. When he was 9 years old, Brian had the growth plate in his right knee operated on to slow down the growth in that leg, so that the left leg would catch up in length. The one complication that occurred was slight damage to the sciatic nerve, which runs down through the buttocks and along the side of the leg. Brian was hospitalized for an extra three days until the nerve pain and inflammation resolved. That surgery, which is called an epiphaseal arrest, has worked, but it took two years to see any result. Brian still has to wear a lift on his left shoe, but it is down to 1/2 inch from 11/2 inches. Another problem that Brian has is that the foot padding on the bottom of both feet has gradually decreased, so he essentially has no padding and is walking without cushioning of the foot bones. This is complicated by osteomas, which are growing downward from the arch area of his feet and from the side of one foot. The osteoma from the side of his foot was removed but the one growing out of the bottom of the arch area cannot be operated on because of the placement and the probability that it would not heal, plus the uncertainty of the healing qualities of the rugated (heavily thickened and wrinkly skin) tissue on the sole of the foot. Brian has had 2 toes partially amputated from each foot because of giantism, which made it very difficult to fit shoes or to find any sandals that were comfortable. We have tried the vaso-elastic insoles, which are silicone-filled and molded around the osteomas. Even with the amputations, Brian has numerous lipomas between his toes and we still have some difficulty fitting shoes. He still requires a shoe with a large toe box, which has space for specially molded insoles. A donut can be cut out of the center of the insoles to accommodate the osteoma in the arch area. The toe box must be wide enough for his toes with the lipomas, and the shoes must have a sole that can be modified for the lift.

At the same time that leg surgery was performed, Brian had a middle finger wedge resection, called an osteotomy, performed to try to straighten that finger. The middle finger was curved such that it almost crossed over the ring finger next to it, and prevented Brian from closing his hand. Screws were inserted into the finger joint after the wedge was removed and stayed in for about 3 weeks, until the finger healed in the straightened position. The function of this finger has never improved, however, because the surgery appears to have stimulated the bone growth in the joint area, so that the finger does not even bend now. However, the joints in three other fingers not operated on have also over-developed and those fingers also cannot bend. This has limited Brian's writing ability because the joints, which look arthritic, can get quite painful.

During the last 10 years, we have learned a lot. First of all, we utilize our pediatric geneticist, Dr. G.S.Pai, as our consultant before deciding on any surgery. He has assisted us in obtaining and sending tissue samples from the surgeries to researchers performing work related to Proteus, plus he keeps us up to date on current data. He has urged us throughout the years to be conservative when considering surgery. We have learned to pick and choose physicians by their expertise and not because they are affiliated with a particular hospital or practice. I have computerized a list of all the medical tests, surgeries, and major treatments or diagnoses that have occurred so an accurate listing can be provided when needed and our pediatrician and geneticist also get updated versions of this list.

Now that Brian is an adolescent, Dr. Pai has advised us that many physical changes will be occurring due to the influx of hormones and the unknown effects they will have on the child with Proteus. If nothing else, Proteus syndrome continues to be a learning process for us and it's important that we share our knowledge with each other and continue to pursue any research that will benefit our children.

PATRICK CONLIN KING

by Barbara King

Our precious son, Patrick Conlin King, was born on March 24,1987. The morning after his birth we were informed that something was wrong. It seemed that his left leg was 1/4" longer than his right and that his eyes were somewhat wide-set. Well, we thought he looked perfect and just knew that a mistake had been made. Little did we know that the love we would have for this baby would be beyond anyone's description or that one day, five years from then, our hearts would be broken forever.

The original diagnosis we received was Klippel-Trenaunay-Weber syndrome. A correct diagnosis of Proteus was made at eighteen months. That didn't matter however, because we were just as alone in our search for information as other families experiencing what we were going through. Uncertainty and desperation seem to sum it up pretty well.

Patrick had his first surgery for glaucoma when he was 42 days old. Thereafter, he was put under anesthesia approximately every 3-6 months to check the pressure in his eyes. We would occasionally have the eyes checked when he was under anesthesia for other surgeries. The discrepancy in his leg length eventually became more than 9 inches. He had severe scoliosis, never walked or spoke in complete sentences. There were other maladies along the way...frequent bouts with bronchitis and pneumonia, bony growths, etc.

We were so fortunate to find a wonderful school for our son when he was no longer being helped in a typical day care center. The school incorporated classroom activities as well as physical, speech and occupational therapy...not to mention an enormous amount of love. There were also typical children enrolled in the day care area who provided extra TLC and, very often, assistance to the children.

It was on October 9,1992, that we awoke to find that Patrick had gone to Heaven during the early morning hours. Shock and horror were followed by days on end of crying and staring into space in absolute disbelief. The autopsy results did not reveal a definite cause of death other than the possibility of something like Sudden Infant Death Syndrome. Basically, it was unexplainable.

Recovery has been a very long process and may never completely end, but we will always carry this most beautiful child in our hearts as our love for him was extraordinary.

SHORT-TERM GOALS

"You gain strength, courage, and confidance by every experience in which you really stop to look fear in the face. You must do the thing you think you cannot do."

- Eleanor Roosevelt

THE PROTEUS SYNDROME CLINIC

A Brief Overview
by Kim Hoag

The Proteus Syndrome Clinic on April 22,1997, was attended by 14 families. Of the fourteen, 4 of the families were 'undiagnosed' as not having Proteus syndrome, two dropped out, and there were 8 confirmed cases. It is my understanding that Proteus is difficult to diagnose. The doctors at the clinic are now narrowing down the clinical features so in the future doctors will be better equipped with information to diagnose Proteus syndrome.

A very interesting part of the clinic was a speech given by Dr. Michael Cohen, Jr. to the families addressing their concerns about the syndrome. A tape of this speech will be made available to the foundation and its members in the near future. I will put out a family bulletin when it becomes available so you may order the tape. Some of the topics addressed were:

1. Proteus syndrome seems to 'burn itself out' after adolescence, 15-17 yrs. of age.

2. Each child is unique. Take messages from your own child and deal with the issues that arise on your own child's case. The course of the syndrome one child follows will not necessarily be the same course of the next.

3. Try and have your child followed by a geneticist or a pediatrician that understands Proteus syndrome and is willing to 'get involved' with your child's care. This person should be up to date on everything that your child has done to them and be able to recommend further procedures

One very valuable tip I personally learned is to keep a file on your child yourself! This file should contain everything that has been done to your child including, x-ray information, surgery dates, complications of surgery, and suggestions for future treatments by doctors. You will find that a lot of doctors will say a lot of different things and sometimes it is up to you as a parent to make the doctors aware of other suggestions made by other doctors. Doctors are almost always interested in comments by others about this syndrome. Take this file with you to every doctor appointment so that each doctor can quickly access any information about your child he needs right away. This will be to your child's benefit. Stay organized and this will help you out tremendously!

Richly Blessed

I asked God for strength, that I might achieve.
I was made weak, that I might learn to obey.
I asked for health, that I might do greater things.
I was given infirmity that I might do better things.
I asked for riches, that I might be happy.
I was given poverty that I might be wise.
I asked for power, that I might have the praise of men.
I was given weakness, that I might feel the need of God.
I asked for all things, that I might enjoy life.
I was given life, that I might enjoy all things.
I got nothing that I asked for but everything I had hoped for.
Almost, despite myself, my unspoken prayers were answered.
I, among men, am most richly blessed.

- Anonymous

ALEXANDER HOAG AT THE PROTEUS SYNDROME CLINIC

GETTING INVOLVED: YOUR CHILD'S IEP

Getting involved in your child's education is a good way to stay in touch with what is happening at school. As in all school situations, parents are encouraged to take an active role in their child's education. This active role seems to be more prevalent when the child has a disability.

Upon entering the school situation, a child with a disability who qualifies for special education services is to have an Individual Education Plan, more commonly known as an IEP. From birth to age three this plan is referred to as an Individual Family Service Plan. From age three to age 21, this plan is called an IEP.

Parents are strongly encouraged to take an active role in developing their child's IEP. The IEP is an educational plan for long-term goals and short-term objectives to be achieved in the educational setting. Long-term goals are generally set for three years and short-term objectives are generally set for one year. A student's IEP is reviewed and updated on an annual basis. Parents are to be notified in writing of when the IEP conference will take place. It is the responsibility of the school to inform all invited individuals of the IEP conference. It is also important to remember that a parent may request a conference at any time.

The school will typically invite the occupational therapist, physical therapist, speech therapist, school nurse, building administrator and classroom teacher. Whatever services your child is receiving at the school it is important that the appropriate therapist or teacher be present so that an effective IEP can be coordinated. Parents are encouraged to bring along another person, if only for some moral support.

Prior to arriving at the IEP conference, parents should review their copy of their child's current IEP. In doing this, you are able to get an idea of how your child has been doing over the past year. This may also bring to mind some new ideas that you may want to see addressed as educational goals and objectives. I would encourage you to write these things down and take the list with you to the conference. If you find your list being somewhat lengthy, I would like to suggest that you give a copy to your child's teacher before the conference, so they can be prepared for what you would like to discuss.

At the conference, parents should take an active role in the decision making process. If you have a concern about a goal or objective that has been suggested please speak up and let the school staff know about your concern. What will generally occur at the conference is a review of the present goals and objectives to let parents know how their child has progressed. While reviewing the IEP, objectives may be noted as accomplished or revisions made to make the objective attainable in the next year. In some instances, objectives may need to be deleted due to no shown progress or the goal has been attained. Other topics will be therapy service times, placement concerns, integration with non-disabled peers and transition, if appropriate.

If the IEP conference is not being successful, the meeting may need to be stopped and rescheduled. If issues still cannot be resolved, then the parent may need to take the issues to due process. Parents should be given a copy of their rights and responsibilities at the meeting. This should provide information pertaining to due process procedures. I would encourage parents to attempt to resolve issues at the school level and then the district level before going to due process proceedings.

I hope that this information has been helpful to you. Parents are a vital part of their child's education and an active role should be taken. Should you have further questions about the parents role in the IEP process, please contact your child's local school district's Special Education Director.

Shellie L. Wolfenbarger, MSE
Blue Springs R-IV School District
Special Service Center
Blue Springs, Missouri
USA

SUGGESTED READING

  1. Understanding Proteus Syndrome, unmasking the Elephant Man, stemming elephant fevor. By: M.M. Cohen Jr. Neurofibromatosis Journal, Volume 1, pg. 260 - 280, 1988.

  2. Proteus Syndrome: clinical evidence for somatic mosaicism and selective review. By: M.M. Cohen Jr. American Journal of Medical Genetics, Vol.47, pg. 645-652, 1993.

  3. A Newly Reconized Hamartomatous Syndrome. By: M.M. Cohen Jr., P. W. Hayden, Birth Defects: Origional Artical Series, Vol 15 (5B); pg. 291-296, 1979.

  4. The Elephant Man did not have neurofibromatosis By: M. Michael Cohen, Jr., Proc Greenwood Gen Center 6: 187-192, 1987

  5. Encephalocraniocutaneous Lipomatosis, Proteus Syndrome and Somatic Mosaicism By: Renata Rizzo, Lorenzo Pavone, Giuseppe Micali, Francesco Nigro, and M. Michael Cohen, Jr., American Journal of Medical Genetics 47:653-655, 1993.

  6. Compromise of the Spinal Canal in Proteus Syndrome. By: Flemming Skovby, John M. Graham, Jr., Stig Sonne-Holm, and M. Michael Cohen, Jr., American Journal of Medical Genetics 47:656-659 1993.

  7. Invited Historical Comment: Further Diagnostic Thoughts About the Elephant Man. By: M. Michael Cohen, Jr., American Journal of Medical Genetics 29:777-782, 1988.

  8. Regional Proteus Syndrome and Somatic Mosaicism. By: Eric Smeets, Jean-Pierre Fryns, and M. Michael Cohen, Jr. , American Journal of Medical Genetics 51: 29-31, 1994.

  9. Neoplasms in Proteus Syndrome, By: Patricia L. Gordon, R. Sid Wilroy, Olga E. Lasater, and M. Michael Cohen, Jr., American Journal of Medical Genetics 57: 74 -78, 1995.

  10. DYSMORPHOLOGY: Putting a Foot in one's mouth or putting a foot down: Nonspecificity V.Specificity of The Connective Tissue Nevus in Proteus Syndrome By: M. Michael Cohen, Jr., Proc Greenwood Gen Center 14: 11-13, 1995.

These articles are available at libraries, medical center libraries or through the Proteus Syndrome Foundation. If you would like to order them through the foundation we ask for a donation of $1.00 per article to cover the cost of copying and mailing.

LEND YOUR SUPPORT

Proteus Syndrome Foundation, Inc.

I am interested in supporting Proteus Syndrome Foundation, Inc.

Name:___________________________________________________________ Address:_________________________________________________________ City:_______________________________State:__________Zip:____________

Phone: ( )______________________________________________

Child_____ Other Relative_____ Educator______ Friend___________

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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, ormedication. We encourage parents to support one another with suggestions and to contact their child's physician for final approval.

THE PROTEUS SYNDROME FOUNDATION, INC, IS A NATIONAL NOT-FOR-PROFIT ORGANIZATION DEDICATED TO INDIVIDUALS AND FAMILIES AFFECTED BY PROTEUS SYNDROME .

PROTEUS SYNDROME FOUNDATION
c/o KIM HOAG
609 S.E. MT. VERNON DR.
BLUE SPRINGS, MO. 64014

ADDRESS CORRECTION REQUESTED

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

THE PROTEUS SYNDROME FOUNDATION
609 S.E. MT. VERNON DR.
BLUE SPRINGS, MO. 64014
E-MAIL: ABSCIT@AOL.COM

We will be publishing a spring and fall issue of the Proteus Syndrome Newsletter. In the event that important matters arise in between these newsletters 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 WOULD LIKE TO THANK THE FOLLOWING PEOPLE FOR THEIR KINDNESS, ENCOURAGEMENT,AND SUPPORT, BOTH FINANCIALLY AND EMOTIONALLY, IN HELPING US BUILD THIS FOUNDATION FOR OUR CHILDREN AND FAMILIES!!!

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Kiki Lucente, a true friend
The BonTon Soul Accordian Band of KansasCity
Chris Gorman
DRT of Kansas City
The Flower Box in Blue Springs, MO
Donna Hainen
P. Buckley Moss Foundation
The Knights of Columbus Council 9317
Stefanie Fullerton-Kenske
The Buzzard Beach in Kansas City
Dave Ellis,President Consolidated Printers, Inc.
Ida McBeth
The Daily Limit in Kansas City
The Cathedral of Saint John the Baptist, of Charleston, South Carolina
Brian Richards
My mom, Linda Benson. I love you.

...and to all the individuals and businesses that have donated their hard earned money to this foundation we truly appreciate your support.

This organization is run by volunteers with no person taking any type of payment for their services. All money raised goes directly to the cost of supporting the foundation and research.

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