We are so privileged to work with the folks who provide support to those with CMT, Charcot Marie Tooth Syndrome. We have written here before of the disease and its impact on those who live with it. The local chapter that meets at Capabilities brings in speakers of all types who have inspiration, medical knowledge, research, and information about products that help with day-to-day living. At the next meeting on April 26 (see Events for more details and to RSVP), Elizabeth Ouellette who serves on the national board of CMT and is a generous donor, along with her husband, to a fund established for researching a cure for Charcot Marie Tooth Syndrome. We are delighted to feature Elizabeth’s story of her journey with CMT, which affects her son, Yohan. For more information, please contact Diane Covington at (303) 635-0229 or dmcovington@msn.com. My Son, CMT, and I
My son Yohan, currently 15, has Charcot-Marie Tooth (CMT) disorder, the most commonly inherited peripheral neuropathy; which has nothing whatsoever to do with a tooth or your teeth! CMT affects the peripheral nerves, which in most cases causes high arches, hammer toes, muscle wasting and tightness of the arms/hands and the feet and lower limbs. Foot drop is not unusual and most individuals experience sensory and motor loss, resulting in numbness and muscle atrophy. Other symptoms include muscle cramping, loss of stamina and neuropathic pain.
I had never heard of this disorder before my son was diagnosed by a very sharp pediatric neurologist who recognized his symptoms and requested a genetic test for CMT1A. Neither my husband nor I tested positive for CMT, so Yohan is considered to have a “de novo” genetic mutation, meaning that a spontaneous alteration in a gene occurs for the first time in one family member. Well, the story goes that my husband and I were initially stunned, but shortly following Yohan’s diagnosis, I decided that until there is a treatment and cure for CMT, I would get involved in advancing his cause. Presently, I am very active in spreading awareness of CMT, fundraising for CMT research and continuing to work with the Charcot-Marie-Tooth Association, who is dedicated to finding a cure for this untreatable and often disabling disorder.
Yohan was born in 1993, at which time I was living in Grenoble, France where I had met and subsequently married my husband, Gilles. During pregnancy, I noticed that my feet started to burn and felt painful. I figured it was one of those many symptoms that go along with pregnancy. Unfortunately, the pain and sensitivity only increased following after Yohan's birth. I became a distraught mother trying to take care of a small baby while trying to deal with bilateral foot pain, pain that not even the best French physicians were able to treat, much less diagnose.
I had always been extremely athletic, a bit too competitive and played virtually every sport known to man. If I did not ride my mountain bike ride, climb a mountain or play 10 games of squash in the afternoon, I felt cranky, unhappy and irritated. This foot pain was cramping my style. In addition, I was trying to learn how to take care of a newborn, with my husband, who was working insane hours, and a bit of help from a few friends. How I missed the wisdom my mom had to offer and the attention of my brothers and sisters! Yohan was a great baby, but like many infants, he cried frequently and much of my energy was spent trying to understand what my little boy wanted. My foot pain was growing increasingly worse, as was my anxiety about my inability to walk and exercise.
By the time we moved to California, at the end of 1995, I was no longer able get the groceries, take walks, cook family dinners or much of anything else that required me to be on my feet. After 2 1/2 years of searching and seeing many physicians, many of whom thought that I was a hypochondriac or a malingerer, I still did not know why I was having continual pain and more importantly, I had no idea what to do about it.
Once in California, I sought out a physician who would be able to “get rid of” the chronic pain that had developed. More disturbing was the fact that I started to use the mobility scooters at supermarkets to get my groceries, asked my physician for a handicap placard and even purchased a wheelchair to get out into the world and take part in life.
Consequently, I also decided to go to graduate school and study psychology, a field which has always intrigued me. I figured if I couldn't walk around and enjoy the world on my terms, I would satiate my intellectual curiosity and attain a Masters in Transpersonal Psychology. This course of study not only helped me understand myself, but others as well. In retrospect, this was a good move, as I became very focused on the materials which would eventually help me relate to people on many different levels (my husband hates my analyzing others, especially if it has to do with him!).
As all these events were unfolding, Yohan was growing quickly and seemed to enjoy his new home in California. When he was around five years old, we put him in the French-American school, where he seemed to thrive. He had a lot of friends and he warmed to the teachers easily. Over the next several months, my husband and I noticed that Yohan increasingly walked on his tip toes. However, when I mentioned this to his pediatrician, she told me that many kids walk on their toes and in 95% of the cases, it was nothing to be alarmed about I was dismissed. Nevertheless, I intuitively felt that something was amiss. I must have brought Yohan to see at least four to five physicians, who told me not to worry, but I did anyway.
By the time Yohan was seven years old, his stamina had decreased and his hands betrayed a small tremor, making handwriting a nightmare. He also started to have neuropathic pain and could not walk long distances. His friends started to distance themselves from him as he was not able to hang on the monkey bars, ride a bike or play the same games that they did. His interest in school dropped dramatically and our beautiful son gradually became introverted and self-conscious. This was a very difficult period for the entire family.
Finally, at the age of 7, he was diagnosed with Charcot-Marie-Tooth disorder and most of his physical symptoms began to make much more sense. By this time, we had transferred him to our local public school, but he was missing so much school time because of doctor appointments, the rigid requirements were too much for all of us. Thankfully, we found a private, alternative school where he regained his love of learning, self-confidence and intellectual curiosity. He is graduating this June and, looking back, this was one of the best moves we had ever made as parents!
In the meantime, I found a pain physician who acknowledged and authenticated my chronic pain condition and helped me with a rehabilitation program to regain strength, mobility and hope for the future. First and foremost, he gave me a diagnosis – idiopathic
small nerve fiber neuropathy, which is, in essence, a peripheral neuropathy. I took classes in chronic pain management where I learned to manage my pain with various cognitive behavioral techniques as well as progressive physical therapy. Today, when the pain flares up, I still struggle with the anxiety and worry that I may find myself one day back in my wheelchair, but luckily, that friendly voice in my head reassures me that I am able to deal with the pain and manage it appropriately.
I am no longer in a wheelchair and can now walk up to three miles and stand for more than 10 or 15 minutes at a time. I no longer need little portable chairs at the airport to help me with long lines or the motorized scooter at the grocery store. My pain is still present, but it is no longer in the foreground. It has become a background noise I have learned to live with. Moreover, I do believe that things happen for a reason and if I had never experienced disability and chronic pain, I would have never been able to have the beautiful relationship I enjoy with my son, Yohan. Furthermore, I would have never ever been able to relate to CMT patients or the everyday reality of getting up each morning despite limited abilities from a little known progressive disease.
Presently, I am very involved in the Charcot-Marie-Tooth Association. I love to write articles about my experiences in the domain of CMT and my joys and frustrations of raising a child with different abilities. I am currently on their Board of Directors and my husband and I have set up the fund to help finance CMT research. I also started a CMT support group in the Bay Area as well as provide assistance to those across the country who would like to start or attend a CMT support group. I have enormous hope for the future of CMT research. A treatment will be found in the very near future and a cure for this disease is not far from sight. This I believe wholeheartedly. In the meantime, I am determined to continue all my efforts to provide hope for a better future to everyone affected by this disease.
Mary Kay Engle continues her Ride for Rehab through Louisiana and Mississippi this week. She is riding with a group of other women bicyclists, all over the age of 50. One rider is a stroke survivor. Her goal is to raise money for the Rocky Mountain Stroke Association to be used for scholarships for stroke survivors. In 2006, Mary Kay’s sister, Kathy, suffered a stroke. As is often the case with stroke survivors, Kathy’s immediate care used up available insurance money. Through the efforts of her family and friends, Kathy’s rehabilitation continues. Specifically, through the affordable services and scholarships available through RMSA, Kathy is able to attend weekly therapy classes, gaining improvements physically and emotionally.
