My Story

I was diagnosed with CMT type 1A, the most common, when I was 12. The funny thing is, I had been tested for the disease when I was 4. When I was a baby, my pediatrician pointed out to my parents that my feet turned inward, instead of being straight. I wore special shoes to attempt to correct that, as my parents have told me, though I don't remember that. My parents took me to see a neurologist when I was 4, who did a nerve biopsy to test for the disease. They took a nerve from the side of my foot, and I believe also did a spinal tap or something similar. I hated that neurologist. I remember getting some kind of nerve conduction test, where she'd use this little instrument to send electric shocks through my feet. It hurt SO bad! I think she must have felt bad at one point, because I did get a My Little Pony out of it. To this day, her name is still met with disdain in my parent's household. Anyway, the test came back negative. This was before a blood test had been developed for it, and I'm assuming that a nerve biopsy isn't always the most accurate. CMT is a genetic disease, which does not just appear over time. You either have the mutated gene, or you don't.

Symptoms of the disease can vary greatly in severity and in when they present. Symptoms usually present in childhood or early adulthood. The severity can vary so greatly that unless an actual diagnostic test was performed, one may not even know that they have the disease. I have heard the disease compared most closely to Muscular Dystrophy, though CMT is not as severe.

Symptoms, in my case, presented quite early. I remember bits and pieces about my first surgery. I was 5 years old, and was having surgery at the old Primary Children's Hospital in Salt Lake City. I don't think I really knew quite what was going on, and that was ok. I don't remember being scared at all, at least not until they made me leave my mom to go to the operating room. They were going to lengthen the achilles tendons on both of my feet. CMT can cause tendons not to grow properly, so this is actually a very common thing. I came out with two bright pink casts on my feet. (Side note: I broke my wrist a few weeks later, and ended up with another bright pink cast on my arm. My parents got quite a few dirty looks carting around their daughter with 3 casts on. LOL.) I survived the surgery (and getting stitches pulled - ouch! This was before they used dissolvable ones.), and life went on for me as a normal child for the most part.

I remember having to wear braces on both legs after the surgery. They were the kind that had a shoe at the bottom, and then metal bars up both sides. I absolutely hated them. One pair had black and white saddle shoes on them, and went up to just below my knees. I remember a time in first grade.....I would walk to school in the winter with snow boots on and my braces in my backpack. I was instructed by my mom to put them on once I got to school. Do you think I did? Nope. I was eventually caught and reprimanded......BIG TIME. But those weren't the worst ones. There was another pair that had white and yellow hi-tops on them. (Yes, this was the 80's). These braces had metal bars that went halfway up my thighs, and I was supposed to sleep in them. I'd challenge anyone to try and sleep an entire night not being able to bend your knees or ankles. Then, I challenge you to make your six-year old child do it. Neither my parents or I got much sleep during that time, and the wall next to my bed got pretty banged up. Needless to say, that didn't last very long.

Once we got past the drama of the braces, life just seemed pretty normal to me. I never feared that I had some horrible disease. I could still run around and play with all my friends. I played softball, jumped on trampolines, and pretty much everything else that kids that age do. I could never run extremely fast, jump very high, or things like that, but I just chalked it up as "not being an athletic child". I often wonder how things would have been different had we known that I did actually have CMT. But, my childhood was happy, and I had no real worries.

I don't remember what actually led to my parent's making me an appointment with an orthopedic surgeon when I was 12, but that's what happened.  My mom and I went to see Dr. Peter Stevens at Primary Children's Hospital. I remember having what felt like a million x-rays taken.....feet, legs, hips, back, etc.  After a while, the doctor came into the room and told me that he suspected I had CMT, a disease that I had never heard of.  I also had scoliosis and would need to be fitted for a back brace.  I think I zoned out a little as the doctor discussed with my mom all of the surgeries that I would likely need, as well as the need to take me to a neurologist to verify that his assumption was correct.  I was in shock.  I remember driving home from the hospital thinking, "What did I do wrong?  Maybe if I had done (insert activity) differently, I could have prevented this."  My mom must have been reading my thoughts, because she turned to me and said, "This IS NOT your fault.  Nothing you did or should have done made this happen.  You need to know that."

That May, I had my next surgery.  To date, I have had 13 surgeries.  Those include tendon lengthenings in my arches, my toes,and achilles tendons, hip reconstruction, removal of bone spurs, and re-aligning my tarsal bones in one foot.  I've spent quite a few months on crutches, as well as a few in a wheelchair.  I was fitted for my first AFO (Ankle/Foot Orthotic) for my left foot when I was about 15.  I think I'm on my third one now, and I can't walk more than a few steps without wearing it.  I was fitted for a "Boston Brace" for my back when I was 13, but that didn't last long at all.  Chalk it up to being a stubborn teenager.

Today, I am 30-years old.  I am happily married, with 3 children and one step-child.  I have a very supportive family, and amazing friends. I enjoy baking, singing, reading and travelling. I also own a small floral business.  Having CMT may have slowed me down, but it has not stopped me.  I have learned to adapt to life with my disability, and I have learned to accept help when I need it.  I have accepted this as my challenge in challenge to overcome.

Every child born to a parent who has CMT has a 50% chance of inheriting the CMT gene.  I was adopted, and therefore have no record of exactly how my disease was passed on to me.  Of my 3 children, only one of them has tested positive for CMT.  There are days when I get really down, thinking about all that my sweet, spunky daughter may have to endure with this disease.  I am hoping for a cure.  Soon.  That's what this blog is help raise awareness for Charcot-Marie-Tooth Disease.  To encourage those who can to donate to finding a cure for this disease that affects so many.  To put a face and a voice to a disease that is known by so few.

-August 2012