I am so happy that the Proteus Syndrome Foundation can be a part of this discovery. For 15 years we have sent our families to Dr. Biesecker’s research project to be evaluated, diagnosed and sometimes  enrolled in the NIH protocol for Proteus. They followed our PS kids for years working with individual doctors to help the kids do well.

The PSF was able to grant Dr. Biesecker’s project $50,000 in 2010 which he used in this latest attempt to find the cause. This was due to intense fundraising and generous donations.

To make things even more remarkable AKT1 can be linked to various cancers; such as breast cancer which means that companies are already interested in finding something to stop the AKT1 gene.

There is still lots of work to be done and the PSF will continue to support Dr. Biesecker and his research until a way to stop Proteus syndrome is found.

Tonight I had to change the Proteus Syndrome Foundations Mission Statement. I had to delete the part where we are searching for the cause! That felt good!!

Kim

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The Alex Run was once again a great day with lots of fabulous people running and volunteering
to make the day a success. I am blessed to have so many people in Colorado Springs that support the Proteus Foundation through the race. [Read More]

» Click here to download the 2011 March Newsletter (pdf) 

In this issue of the Archives, Nguyen and Colleagues present a clinically oriented study of 24 consecutive patients with Proteus syndrome who were evaluated at the National Institutes of
Health in Bethesda, Md.1 The diagnostic criteria of Proteus syndrome proposed by an international
working group some years ago were met in all cases.2 Because this multisystem birth defect occurs rarely, an analysis of such a large cohort is most welcome.

» Click here for Full Article (PDF)

» Click here for Full Article (PDF)

» Click here for Full Article (PDF)

» Click here for Full Article (PDF)

» Click here for Full Article (PDF)

My remarks are dedicated to you who have Proteus syndrome or who are the parents of children with Proteus syndrome.  Each of your stories about being affected with Proteus or being a parent of a child with Proteus is unique and important.  My comments will be limited in capturing your personal story.  I speak to you with humility and respect, in no way intending to suggest that I know you, or what’s in your hearts.

What I am sharing with you originated from professionals listening to parents and conducting research on adjustment to stress-inducing events.  It is a distillation of many people’s work, but the bulk of it is extrapolated from the theoretical and empirical work of Dr. Shelley Taylor (1).  As professionals, we strive to understand, as best we can, your life experience.  We can only bear witness to it, but if we listen and listen well, we can learn to serve you better in our capacity as caring health professionals.

Introduction

One of the most impressive aspects of the human condition is our ability to withstand personal misfortune.  It is a fundamental reason that genetic counseling is personally rewarding to me.  Despite serious setbacks in your lives, you have been able to achieve a quality of life, equal to or exceeding, what it was before.  Not all of you adjust, but most of you do.  And fundamentally, you adjust on your own, without professional help.  You are your own self-healer.  This talk focuses on the process you have undergone with recognition of the abilities and the strength you have exhibited.  Not only have you adjusted to having Proteus syndrome or a child with Proteus syndrome but you have learned to celebrate your child.

The Journey of Adaptation

You have been on a journey.  A long and arduous one.  A journey with many peaks and valleys.  A journey of parenthood, yet with an unusual twist.  During your journey you have found strengths you never knew you had.  While this has its rewards, at times you felt that you would have been perfectly content with your prior self… because it has been hard work to find and employ these new strengths.  There have been times when you have felt very isolated and it is only another parent of a child with Proteus syndrome, or a diagnosis equally as complex and unpredictable, who could understand what your journey has been like.   While each of your children is unique and your journeys have been unique, you share aspects of your journeys with the other parents.

There are characteristics of your journey that may be universal to self-healing.  When I describe them, it is not because I accompanied you on your trip or because I know more than you do, I know less.  But it is because parents of children with a variety of special needs; unpredictable and chronic conditions, who have been on this journey have told their stories.  It is a conglomerate of journeys I speak about, some of which may ring true for you and some of which may not.  The characteristics of this journey toward adjustment come from both theory and research.  Because it is about people, it does not represent an exact science and there is always more to learn.

The Time of Diagnosis

I want to take you back to the day, the moment, when you learned your child was affected with Proteus.  I imagine that most of you could describe to me the details. Who told you, how they told you.   Even the clothes the people wore and the wallpaper on the wall.  It is emblazoned into your memory.  It was a time of crisis for you, your partner and your family.  You felt disbelief… How could something be wrong?  Maybe they had made a mistake?  You thought, “I had a healthy pregnancy, this just can’t be happening to me, to us.”

This is now merely an historical moment in your life history.  But it is the day your journey began.  You had known you were starting a journey, one of parenthood, with its many unknowns and risks… but this was a much different journey than you had bargained for and one that you felt completely unprepared to take.  One you may have even felt unwilling to take.  Angry to take…  These weren’t your plans…  Not what you expected…  Not what you dreamed of…  Not what you hoped for…

The Beginning of the journey

Yet your journey was set in motion and at the beginning you went along for the ride.  You had little choice in the matter.  Over time, you began to realize that you had better acknowledge that this was happening to you and that you needed to figure out where you were going.  This was a time of re-organization.  You began to adjust your expectations, for your child, for your family, and for your role as a loving parent.  You even began to adjust your beliefs about the meaning of life.  This journey of adaptation that you had begun was progressing.  But no one could tell you when the journey would end.  When you would know that you had arrived…  What the destination was…  What it meant to have learned to “accept” that your child has Proteus syndrome…

Searching for meaning

You began to search for meaning in your journey.  You struggled to understand why your child was affected with Proteus?  You asked yourself, “why him” or “why her?”  “Why my family?”  “What does this mean for my child’s life?”  “For my life?”  This was a very personal part of your journey and one for which no professional could offer an answer.

Adjusting to having a child with Proteus syndrome meant grappling with the mysteries of life.  You might ascribe it to fate, to God’s plan, to another spiritual entity, to biology or genetics, … whatever your frame of reference is, each of you has come to find meaning in your own personal way.  There were probably few tour guides during this search for meaning.  Perhaps a clergy person provided some direction, a dear friend, your spouse, those closest to you who witnessed your search and participated in it as they could, but it was ultimately up to you to make sense of this random, unfair and life-altering event in your life.  But you did.  You began to feel, “Why not me?”  You had a faith, or an explanation that matched your values, beliefs and worldview.  It is not terribly important whether others share the same view.  It is yours.  You own it.  When some positive meaning began to emerge from your experience of having a child with Proteus, you had started to adjust.  With it, you began to define this journey as your own.  You began to find purpose in it and your efforts shifted toward regaining a sense of control in your life.

Gaining mastery

When we begin unexpectedly on a journey that we did not plan for and that has such an impact on our lives, we lose feelings of personal control.  We become out of control.  It happens to all of us when there is a loss or a misfortune.  We must reconcile ourselves to the supreme ways we have little control.  This is particularly difficult for all of us when it comes to our children.  As parents, in general, we need to feel we have control… control over their safety, their health and even their happiness.  We have a burning desire to make things right by them.  It is a life long journey for all parents to learn to accept how little control we often have over our children’s lives.  But when the event is as disconcerting as having a child with Proteus, you experienced the ultimate feeling of being out of control.

You worked to regain control by striving to understand what caused your child to have Proteus.   There were probably several aspects to why control was important.  One was so that you could avoid the cause in the future by insuring that Proteus wouldn’t happen again.  Parents feel responsible for their children’s health.  You spent time assessing what you did that caused Proteus.  Even those who accept scientific explanations still wonder at times if it was the flu that they had had during the pregnancy, or that mold cleaner they used before they knew they were pregnant….  Why do people have and hang on to such explanations?

These explanations sometimes make genetics professionals, who likely have a biological explanation of why Proteus occurred, uncomfortable.  As health care providers, we strive to reassure parents that it was nothing you did that caused Proteus.  It was out of your control.  But if it was out of your control, then how do you control it?  If it was a random occurrence or an inexplicable event, how do you, as parents, take a chance again with another pregnancy?  It may be scientifically unlikely to happen again, but wasn’t it unlikely to have happened in the first place?  And didn’t it happen to YOUR child?  You’re left thinking, what’s to prevent it from happening again?

Where’s that feeling of control?  Did we professionals with our good intentions to reassure you take away some of those feelings?  Many parents say that they can learn to live with the guilt they would feel if they learned it was something (unintentional) that they did, if they knew that they could avoid it in the future.  You didn’t know at the time, you didn’t do anything on purpose to jeopardize the health of your baby, but don’t tell you that we don’t know the cause.  Don’t tell you no one knows.  There was uncertainty again.  In dealing with uncertainty you were again feeling out of control.  It was indeed a mixed blessing to be reassured that the cause was biological and that you did nothing that contributed to it.

Another reason you sought control was as a means to cope with your feelings.  There was a certain helplessness that accompanied the birth of your child with Proteus and you wanted to feel helpful.  You needed to care for your child.  You didn’t want to feel sad or angry, you wanted to celebrate this child you love.  Somehow you needed to cope with your negative feelings so that you could embrace your child fully.  Gaining feelings of control helped you to be able to do this.

There was also a need to find control over how to manage your situation.  You gave birth to a child, or fathered a child, with needs.  Those needs were primarily medical and you were faced with a situation that required intervention.  It was in finding the strength to fulfill those needs that you also gained back some of the feelings of control that you had lost.

In your efforts to identify the cause for Proteus, you probably sought consultation.  This was the part of the journey where you took over decisions on your course.  You began initiating consultations, evaluations, and examinations.  What is this, what caused it, what does it mean medically and socially for my child?  Taking on this active role in and of itself took energy and great strength and you begin to see how your journey had progressed.  Rather than not wanting to hear anything that could possibly be wrong with your child, you sought to understand all that you could.  You became your own tour guide on the trip you never bargained for.  You became your own expert.  It was during this time of searching for the true cause that you began to feel additional control returning to your life.  At least this was something you could DO for your child.  This was something you could DO for yourself and for your family.  You became a renegade.  If the experts couldn’t tell you what caused it, you’d tell them.  After all, you were the expert on your pregnancy, on your family history, and on your child.  You were back in the driver seat of your own life.

While this felt better than feeling out of control, it didn’t feel that great.  You talked to a lot of professionals.  They couldn’t tell you much.  You realized you knew more about your own child than most of the health care providers and the resource people working with him or her.  You didn’t ask to become an expert.  You would have been content with “parent.”  You asked yourself, “What if I’m wrong?”  “What if I miss something?”  “What if I don’t know enough?”  You realized you didn’t feel so in control.  You felt those helpless feelings return again.  Just when you thought you had regained some control, you were no longer so sure.  This journey had become exhausting. When would you feel “normal” again?

Restoring feelings of self-worth

Farther into your journey of adaptation were your efforts to restore feelings of your own self-worth.  For when something affected your child, it also affected aspects of you.  These were deeply personal parts of yourself that you may not have even been willing to share with others.  Ideas that didn’t really make logical sense, but which you felt desperately.  You asked yourself, “why were you were not capable of bearing a healthy child, one without Proteus”  “What was wrong with you?”  Other people had children that were okay, were you somehow flawed? You did not feel whole.  You no longer resembled the person you thought you were when you got pregnant.  Your self-concept was shaken.  What did having a child with Proteus say about you?  Was it somehow a symbol of your own worthiness as a parent?

Well into your journey you began to recognize that there were times when you could actually feel good about yourself again.  You began to meet other children with problems at the clinic or hospital.  Parents there were dealing with more difficult challenges and they were coping admirably.  You got on the Internet and learned more about the wide spectrum of Proteus.  You realized that many children with Proteus were more severely affected.  Maybe your situation wasn’t so bad.  Look what other parents have lived through.  Even if no one could tell you how affected your child would be, his/her future health was known to none.  Anything may be possible.  He/she wasn’t as sick as you feared he/she might be.  Well, he/she was sick, but not as much as other children with Proteus.  There were other parents of children with Proteus who you admired for how they coped.  Even those whose child had died.  They were an inspiration to you.  They gave you hope.

By now you were, and are, in love with your child.  Time has passed and Proteus has become something s/he has and not who s/he is.  You admire your child’s accomplishments and feel them as your own.  Her/his resilience gives you strength.  She’s doing things no one thought she’d do.  She’s helping to write the story of Proteus syndrome.

You began to feel motivated.  You began to help other parents.  You realized that compared to some, you were doing pretty well.  You helped other children learn about diversity, tolerance and patience.  You begin to appreciate aspects of yourself that were unknown to you before you had a child with Proteus.  Your self-concept is now not only restored, it’s enhanced.  It’s a hard life but it’s a full and rewarding one.  You have perspective other parents don’t seem to have, fretting about playground antics when you’re grateful simply to have found friends who accept your child.  You find yourself no longer feeling so bitter towards others.  They don’t know any better.  You think about how much more you do know.  Your journey has progressed and you find yourself the better for it.  Even those who have lost a child.

It may never have been a journey you would have chosen, but given that you had no choice, it has been an intriguing one.  You have adapted by re-structuring your life priorities along lines that are satisfying.  This does not mean there aren’t setbacks and disappointments or loss even as you have achieved a sense of adaptation.  But you have an ability to thwart them.  None feels as injurious as that initial point of diagnosis with all its fears, uncertainties and heartbreak.  It was the beginning of your journey and look how far you have come.

Many of you recognize how well adjusted you are and the personal benefits you reap being a parent of a child with Proteus.  But if you aren’t there yet, I trust that in outlining the journey of many parents it provides some hope for yours.

Those of us involved in holding this conference in an effort to learn more about Proteus syndrome thank you for your willingness to teach us.  We are humbled by your journey and respect all that you have learned along the way.  We celebrate your recuperative power. You are awe-inspiring.  Your children are fortunate to have chosen you.

1. Shelley E.Taylor, “Adjustment to Threatening Events: A Theory of Cognitive Adaptation,” American Psychologist (November 1983): 1161-1173.

After attending this year’s PSF conference, Kim asked me if I would share my experience as an adult who has Proteus Syndrome. I jumped at the opportunity because I have been meaning to do this for quite some time. I became truly in- spired after meeting and talking with so many wonderful people in Maryland in October.

My life began 34 years ago at Children’s Hospital in San Francisco. After two days of labor, my poor Mom had a cesarean section and I finally said hello to the world. I made a spectacularly shocking entrance. I guess you could say I’ve always been defiant and full of surprises. I was born with four huge fingers: index, middle and ring on my right hand and thumb on the left and my right hand and arm were also about twice the size of my left. Two specialists were asked to evaluate me immediately: hand specialist Robert Brown, MD and plastic/reconstructive surgeon, Milton Edgerton, MD. They both determined that my symptoms were most consistent with neurofibromatosis (Proteus Syndrome had not yet been identified in 1972). So, they spoke with my parents and formed an action plan to try experimental surgery in order to make my right hand as functional as possible and to decrease the size of my arm and shoulder. This meant that my Mom and I would get to travel to Charlottesville, Virginia once a year to see Dr. Edgerton at the University of Virginia Medical Center. Mom always scheduled extra time either before or after surgery so that we could explore the area. I did a lot of griping at the time but now that I’m older, I’m glad she did that. It distracted me from thinking about surgery. As a bonus, I got to freak out my Dad and Gramma with my newly acquired Virginia style southern accent.

At 13, I had undergone 11 surgeries. At that point, my family and I decided that my hand was as functional as it was going to be and my right arm and shoulder were significantly smaller. The de-bulking, growth plate removals, nerve grafts, etc. had accomplished what needed to be done. I was not interested in making my hand look more esthetically pleasing so, we moved on.

Unfortunately, 4 years later, I ended up having emergency surgery. Small cysts had been growing on my ovaries for quite some time. The only thing that told me something was going on was a trip to the emergency room with pain shooting through my abdomen. It was the worst pain I ever felt. Turned out, my right ovary was so consumed with cysts that it had grown to the size of a grapefruit. The weight of the mass had caused the entire thing to prolapse. In the end, everything turned out just fine, minus the right ovary. The left ovary was not as bad so they were able to remove most of the cysts and keep it intact. I still continue to have regular ultrasounds to make sure nothing else is happening. On a personal note, I would like to take this opportunity to strongly encourage all parents of female Proteus patients or the patients themselves to please speak with their doctors about this part of the disease. If it is at all possible to avoid going through what I did – for heaven’s sake, please do it.

The doctors felt that I should have a genetic evaluation to determine if the ovarian cysts had anything to do with what had happened to my hand. I had the evaluation done and was diagnosed with Proteus Syndrome. At that time, all any- one seemed to know was that it was extremely rare, involved overgrowth of bone and tissue and that the continuous rapid growth ceased in adolescence. That was a big relief because in the beginning we were told that neurofibromatosis symptoms can continue indefinitely in most cases.

It was about 8 years ago that I was told about the Proteus Syndrome Foundation and Kim Hoag. It was a life changing experience. I was so happy to know that there were others out there just like me – and within reach! I immediately wrote to Kim who sent me all kinds of information about Proteus and the research being conducted at NIH. Next thing I knew I was on my way to Bethesda for my evaluation. That’s when I met Dr. Biesecker and his staff and learned what they had discovered so far. Shortly thereafter my Dad and I attended our first PSF conference. Words cannot ex- press the overwhelming feelings I had meeting all of the families involved. There was great strength, happiness, sad- ness and a common bond we all share. I still feel that way whenever I get a newsletter, check in on the PSF website or get an email from someone within the organization.

Having researched everything I possibly can on Proteus Syndrome, I believe that I have weathered the storm. I have done that by staying positive and healthy (well, I still love my chocolate). I see a chiropractor and message therapist regularly. Because my right arm is longer and still a bit heavier than my left, I tend to feel uncomfortable at times. I used to get lots of headaches caused by muscle knots in my neck. So, I have become a strong believer and advocate for chiropractics, acupuncture and message. Traditional medicine is still important but these alternative treatments really work for me.

I am not very religious but I have to say that I am truly blessed with so many wonderful people in my life. I am eternally grateful to my parents, Ray and Sharon Lyon. Coping with the challenges of having a child born with Proteus syndrome is a very difficult thing. My Mom and Dad were always involved, supportive and tough when they needed to be. My “Gramma” was another big part of my life. She passed away several years ago but I still think of her often. She was the glue of our family and the most amazing woman (besides my Mom) that I have ever known. My best friend, Lisa Newby and I met 25 years ago in the 5th grade. You know how girls like to talk on the phone every day and it drives everyone crazy? We still do! I am so fortunate to have her in my life. Then of course there is the love of my life, Jim Lippert. We met on-line 2 1⁄2 years ago. Our relationship blossomed and now we are getting married in February. Jim has two boys, Ben (12) and Patrick (15). I wasn’t sure how they would react to me so I was a bit nervous about meeting them at first. They immediately put my mind at ease and thought I was pretty cool (or maybe it was the brownies I brought). The feeling is mutual. Ben and Patrick are amazing young men and I am very lucky to know them.

In conclusion, I believe the key to overcoming the obstacles that Proteus Syndrome can put in front of us is to stay posi- tive and rely on your families, friends and PSF contacts for support and encouragement. I have always faced challenges head on. Nothing is more important than believing that you can do anything. And if you fail, at least you tried.

Thank you Kim, Barbara, Mary and everyone at PSF for giving me this opportunity.