Over the last 15 years or more I've been told I've had lots of different things. Finally, it was neuropathy, then a couple of years ago I was sent to a neurosurgeon and I was told there wasn't anything he could do that it was peripheral neuropathy and could send me to a pain clinic. I have Blue Cross/Blue Shield and they send a doctor to your house and there's no charge so last year I finally told them to come on. A lady doctor came to the house and I was in shorts and barefooted. She asked lots of questions and when I told her about the peripheral neuropathy diagnosis he asked "what's causing it?" I told her not one knew. She looked at my barefeet and the high arches and said "you're got CMT" I asked what it was and had her write the name down. Of course, the first thing I said was "my tooth wasn't hurting". Turns out this doctor was a neurologist. I know God had His hand in this because I was ready to give up. From reading about CMT over the last year I haven't found any cures. I guess I haven't been officially diagnosed with CMT but I have the drop foot, loss of balance, atrophy in my legs, weak hands, numbness in toes, but the worse thing is the spasm and cramping. I've always been a avid golfer that competed a lot but it hurts so bad that I've about given up. After I play a round of golf I'm literally in bed with leg and feet spasms that go all the way up to my hips. What I don't know is where do I go from here? I'm fortunate and live where I can go to Vanderbilt that has a program for CMT. My doctor said she will get me a referral to Dr. Li there, but why should I go? I'd love to hear from others with suggestions and advice.
You should go to the Dr. so, at the very least, you can get a prescription for Ankle-Foot Orthotics. AFOs (or colloquially "braces" - not the ugly leather and metal ones from time past, mind you) have been the best supportive device I've had for CMT. It makes walking substantially easier and significantly less painful. There will be an adjustment period to get used to them but they will likely have you back golfing again.
Before AFOs I had the same issues you have (muscle spasms and pain from toes to hips and lower back) and the AFOs have helped significantly with that. They reduce the over-exertion of wasted muscles in your lower legs and correct your gait so that your upper legs and lower back don't have to overcompensate so much.
You can see some pictures of my AFOs on my (rarely updated these days) blog about CMT.
Chad, I looked at your blog and it's fantastic!! Looking at some of your pictures are like looking at my hands and feet. Your progression is much worse than mine. My ankles aren't champagne shaped, yet. I so understand the cold feet. Looking at some of your pictures your foot looks red. Mine do that and my toes actually turn blue. I have IBS and acid reflux and have had to have my esophagus stretched once. I am in pain all the time but find that if I stay busy I can "kind of" forget it. Until I have the spasms and Charlie horses because I've done too much. I've had the sciatic pain also. I'll stand up at night because of a spasm in my calf or thigh and when I try to stand up it's like a electric charge that goes all the way up into my hip or lower back. I can't stand up. You've been very helpful. I do know that I need to go ahead and let my doctor give me the referral to Vanderbilt CMT Clinic. I just hate the thought of going through all the tests and I understand the Dr.that heads it up is a real "jerk". How were you officially diagnosed? And what meds do you take? Thanks again.
Thanks for the compliment! I really need to update it with more current goings on but it takes a lot of time and energy and I have many other priorities. You asked about how I was diagnosed... My mom and I (and her late father) all have CMT. Everyone always suspected CMT1A. These days it's not terribly expensive to get a genetic test for duplication of PMP22 (the cause of CMT1A). GeneDX does it for about $500. You can start there. If you have CMT1A (around 50% of CMT people do), that's all you'll need. But, if that test comes back negative you need a more comprehensive panel and it gets more expensive (a few thousand dollars I think). You need to get a blood draw and your Dr. can submit the necessary request for the test.
As far as meds... I generally shy away from pharmaceutical drugs. I tried Neurontin and a number of antidepressants. They all give me nasty side effects and I'm terribly sensitive to them. I tried low dose marijuana for a while (I lived in California and had a Dr. recommendation) - it was not terrible when I had a "flare up" (period of faster progression than normal) but again, the side effects are tough to deal with. Now I stick to OTC analgesics when I'm in pain (both acetaminophen and ibuprofen together) but I won't take anything for the fatigue because Dr.s always want to push modafinil and I won't touch that stuff!
The list of things I've tried for pain, ibs, spasms, reflux, anxiety and depression are:
I take none of these now and haven't for the last few years. I'm tired and scared of drugs.
nana said:
Chad, I looked at your blog and it's fantastic!! Looking at some of your pictures are like looking at my hands and feet. Your progression is much worse than mine. My ankles aren't champagne shaped, yet. I so understand the cold feet. Looking at some of your pictures your foot looks red. Mine do that and my toes actually turn blue. I have IBS and acid reflux and have had to have my esophagus stretched once. I am in pain all the time but find that if I stay busy I can "kind of" forget it. Until I have the spasms and Charlie horses because I've done too much. I've had the sciatic pain also. I'll stand up at night because of a spasm in my calf or thigh and when I try to stand up it's like a electric charge that goes all the way up into my hip or lower back. I can't stand up. You've been very helpful. I do know that I need to go ahead and let my doctor give me the referral to Vanderbilt CMT Clinic. I just hate the thought of going through all the tests and I understand the Dr.that heads it up is a real "jerk". How were you officially diagnosed? And what meds do you take? Thanks again.
Chad, my doctor knows I hate the meds. I've been on the neurontin and have just stopped it. I'll stay on the cymbalta as it does help the depression. If I needed a diagnosis for disability or something I'd feel more inclined to go take the tests. But, I'm retired and my husband has some health problems worse than mine. I'll still talk more to my internist about it since Vanderbilt is not that far away to be an excuse. Thanks.