Thursday, May 15, 2008

My Story - Part 1

So, I've decided to start a new blog. A blog about something that I don't talk in depth about to a lot of people. It is something that affects my life daily, and will now affect my daughter's life daily. It's a disease called Charcot-Marie-Tooth Disease (CMT). I figure that this may be a good way to educate friends, family members, or anyone who wants to know about it, and also could possibly serve as a forum where I can talk about the daily effects of this disease.

The following is an exerpt from Wikipedia about the disease:

"Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN), Hereditary Sensorimotor Neuropathy (HSMN), or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Though presently incurable, this disease is one of the most common inherited neurological disorders, with 37 in 100,000 affected.
The disorder is caused by the absence of proteins that are essential for normal function of the nerves due to errors in the genes coding these molecules. The absence of these chemical substances gives rise to dysfunction either in the axon or the myelin sheath of the nerve cell. Most of the mutations identified result in disrupted myelin production, however the most common mutations occur in gene MFN2, which doesn't seem to have anything to do with myelin. Instead MFN2 controls behaviour of mitochondria. Recent research showed that the mutated MFN2 causes mitochondria to form large clusters. In nerve cells these large clusters of mitochondria failed to travel down the axon towards the synapses. It is suggested these mitochondria clots make the synapses fail, resulting in CMT disease.[2]

The different classes of this disorder have been divided into the primary demyelinating neuropathies (CMT1, CMT3, and CMT4) and the primary axonal neuropathies (CMT2). Recent studies, however, show that the pathologies of these two classes are frequently intermingled, due to the dependence and close cellular interaction of Schwann cells and neurons. Schwann cells are responsible for myelin formation, enwrapping neural axons with their plasma membranes in a process called “myelination”.[3]The molecular structure of the nerve depends upon the interactions between neurons, Schwann cells, and fibroblasts. Schwann cells and neurons, in particular, exchange signals that regulate survival and differentiation during development. These signals are important to CMT disease because a disturbed communication between Schwann cells and neurons, resulting from a genetic defect, is observed in this disorder.

Symptoms usually begin in late childhood or early adulthood. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause claw toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to "stork leg" or "inverted bottle" appearance. Weakness in the hands and forearms occurs in many people later in life as the disease progresses.Symptoms and progression of the disease can vary. Breathing can be affected in some; so can hearing, vision, and the neck and shoulder muscles. Scoliosis is common. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT, as can chewing, swallowing, and speaking (as vocal cords atrophy). A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as extreme emotional stress. "

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 "electro-therapy", 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. 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.


Bryan Schmidt said...

Wow! I'm glad I read that. I learned a lot :D

Casee said...

I am glad you did this, you are awesome! Loves and hugs.

Lenka said...

I was diagnosed at age 13. My family also knew that something was 'off' but the doctors couldn't figure out what it was. I remember that elctro-conduction test was horrible! Thank goodness there are other ways to get a diagnosis these days. I look forward to reading more about your journey!