Hi. I am so glad to have found this group. I'm 40 and was diagnosed with CMT a year ago this month. I've always suspected something "wasn't right" but just chalked it up to being out of shape. I thought if I'd just work out more then I would build strength - little did I know I was causing my body more harm than good. The most frustrating thing for me was that all of my life when doctors would perform basic neurological tests (standing on toes, walking on heels, etc.) and I was unable to do those things they never took the effort to dig any further. Last year I tripped and fell at work and injured my knee. This turned out to be a blessing in disguise as I found an orthopedist who recognized the problem right away. As my knee was healing he asked me to do a few walk and turn tests and upon noticing my gait ordered standing x-rays. One look at the structure of my feet and he knew. He told me it wasn't his place to diagnose, but referred me to a neurologist who did a nerve conduction test and told me he suspected I had CMT. A second opinion from a Shands neurologist confirmed the diagnosis. As you probably know, one of the most frustrating things is that our condition isn't always visible. Strangers, co-workers, and even close friends and family look at us and think we are completely healthy and able-bodied. I've always been very independent and managed things on own, probably overestimating my strength most of the time. I've hauled horses cross country by myself and ridden 100-mile endurance rides everywhere from the mountains to the Everglades. Even though my muscles would become so tight and painful afterwards - to me it was just normal. I didn't know any better at the time and sometimes I think that was a good thing. Now that I've been diagnosed I am having a hard time coming to grips with the fact that I can't do certain things any more and that it's only going to get worse. This is my new normal. I've given up riding horses completely and now am at a crossroads on whether or not I need to give up my career as a filmmaker. I can no longer lug the equipment around - especially in rough terrain where my work often takes me. My hands are no longer steady as I have the tremor with my CMT. I've been fitted for braces and hopefully that will help some. We will see. I'm also one who doesn't like to open up to my "healthy" friends as I don't want to be an emotional drain on them. I'm normally very extroverted and upbeat but the past few weeks have been a rough patch for me as I've noticed my condition rapidly deteriorating. I've been encouraged by reading all of your testimonies and it's good to know that I'm not alone in this fight. Hopefully when I am over this funk I will be able to encourage others as you have me.
Thanks for sharing your situation and thoughts! I too came to a crossroads around 40 years old (43 now). I also had to give up a career and I also lament my deteriorating condition. I was diagnosed at age 10 but I didn't really realize what it meant until my early 20's. I didn't really start having major problems until my early 30's but in hindsight I had problems well before that.
You're absolutely right about the "hidden" aspect of our disease. That only makes things harder. As a matter of fact, I was commiserating just this weekend with my mom (also has CMT) about how I think it's harder for us because we are not totally disabled and debilitated and we often look well enough that everyone expects us to keep up! Which means we have to deal with a problematic disease and continue to "tow the line" in life. That is a really hard place to be in. If a person saw you crawling or wheeling around in a chair, they'd have some pity for your hardship - cut you a break maybe. But... You're walking! You look fine. Maybe you're just complaining, maybe you're just a malingerer! Trust me, nearly everyone here can understand how hard it is to deal with that.
So, I guess I can offer understanding. I also can say that I have learned that, in many way, CMT is a disease of energy management. That is, you learn how to manage tasks so as not to over do things. I've also found that braces (ankle-foot orthotics - AFOs) have helped a lot for me to conserve energy when walking. A BiPAP helped my sleep apnea. And, when I lived in a state where it was legal, medical cannabis was optimal for me in alleviating pain. Those are some things I do to manage my disease. Others have their own modalities.
Happy to have you here! Oh, BTW, do you know what CMT subtype you have (a genetic test is required to be sure - otherwise it's a doctor's best guess). I have CMT1A. Also, there is a lot of info that most doctors don't know about CMT. That makes it doubly hard in finding help for assorted symptoms. For instance, did you know that CMT1A can also affect the autonomic and somatic nerves? Or that breathing can be affected? Or that fatigue is a major problem in CMT patients? Or that many of us have sleep apnea? It is good to arm yourself with this information ahead of time so you can inform your own doctors. We CMT'ers often have to be our own best advocates!
Thanks for the advice and understanding. You're definitely right about the energy management. My husband always tells me to "work smarter not harder" - sometimes it is frustrating to hear that because I am a very stubborn and determined person but in all actuality he's right.
I don't know what type of CMT I have. The doctor at Shands wanted to gather more information about my family history before proceeding with genetic tests. From as far as I can tell, no-one in my family has ever had CMT. My dad worked on radio towers for a living and my mom is 70 and can run circles around most people my age. I have an older brother who doesn't appear to have any signs of CMT, either. I've also heard that genetic testing is expensive and most insurance won't cover the cost. Any advice you have on how to get tested or where to go would certainly be appreciated. I do not go back to Shands until July as it is very hard to get an appointment there. I suppose I can wait until then - I've already waited 40 years so a few more months won't hurt. I am learning more about this disease that a little over a year ago I'd never heard of. And you're right - most doctors I've encountered are clueless with the exception of a few who specialize in neuromuscular disorders.
Nice to meet you! Thanks again for all of the advice and information!