hereditary neuropathy...CMT?
 

Hello, I've been reading on this forum for several weeks while waiting to see a neurologist who specializes in PN. Previously I had 2 abnormal EMG studies, normal MRI, sweat test and 2 office evals. I also have lupus which has been under good control. I was very surprised when he told us I had a hereditary neuropathy (many in family with milder symptoms than mine). We were both happy hearing that because we were afraid I had something like ALS. When I asked for a name of the disease he said as he was walking out of the room 'autosomal sersorineural neuropathy type 1'. I've been living with the horrible pain, balance problems and loss of sensory for 12 years and I know there is no cure or treatment, in the last year my pain has diminished but I've developed atrophy of muscles from my waist down, very noticable and slight atrophy from my shoulders down. I test normal on strength but my physical abilities are far from what they were years ago. We didn't know what questions to ask but the main concern was the atrophy. He said that it's going to happen in this kind of PN and don't worry about he doesn't see me having to use a wheelchair. I asked about exercise and he says he believes in 'use it or lose it'. We didn't think to ask about prognosis. I have skinny legs, very skinny ankles, high arches and hammer toes as did my mom and grandma. I've lost 14 lbs. in 5 months without dieting. I'm 58 yrs. old. I haven't been able to work full time for 11 years due to the fatigue and pain of lupus and PN. I'd love to hear from anyone who has any experience with this disease. If I had to support myself I couldn't, I'm office manager at my husbands office very part time but he is the only employer that would put up with my limitations. Looking forward to hearing from you. Raina

Raina--I was also told recently by my neurologist he suspected I had CMT. I did find out from Athena about their Patient Protection Program. For the
CMT1 test, they would require payment up front from me of slightly less than $600. If my insurance didn't pay for some reason, Athena would would credit me for payment in full and I would forfeit the $600. It depends on what state you live in; not all states qualify for some reason.

I am trying to learn as much as I can before I see the neurologist again in two months. Some have said doctors are not that knowledgable about CMT. I don't know if you are aware of the CMT Association website: Just type CMTA in your search window. You might find a doctor in your area from that website. That's what I have done and am going to get a second opinion from the CMT doc. Good luck.

Jon

Thank you Jon, I'm going to check that CMTA website now. I am now seeing the expert at Mayo on PN and we're happy with him. I still have fairly good function, how about you? raina

Raina--Yes, I have good function right now. I am 60 and until recently didn't have symptoms. A reaction to B-6 is what brought me to the doctor and eventually, the underlying neuropathy was discovered. I believe it was Kitt who advised stay fit in moderation, eat right and keep the weight down. I am doing all of those things as well as taking some supplements. It's interesting that very little B-6 caused me a lot of neurological problems. I was only taking between 23 and 73 mg per day. Two weeks after stopping, most symptoms went away.

Jon

Hi Jon and Kitt, I'm glad most of your symptoms went away after stopping the B-6 Jon. I think I've only taken one drug on the be careful list and that is a statin drug zocor which I'm off now. I am seeing a neurologist at the Mayo clinic who's father is on the CMT expert list (and wrote the textbooks on PN, I was told) and I was referred to his son who is also an expert in PN. I feel very confident I have one of the best doctors in the field. I got the impression that I may or may not progress to muscle weakness and if I do I should come back. My first impression was elation because we were afraid the dx could be worse like ALS and I was so happy I didn't have to repeat the tests. The more I think about it I am worried as the PN and especially the muscle atrophy has been very progressive the last 5 months and what's to stop it? There were no answers except there is no treatment and don't worry he doesn't see me in a wheelchair. I have always thought the muscle strength tests only showed minimal strength. I used to be very strong and I'm not at all now. I don't have the foot drop but I have lost much strength and ability. Thanks so much for responding, I guess I just need some support now. Raina

Raina--I understand your concerns. I have muscle wasting in my feet and high arches but it hasn't bothered me much. In fact, I didn't even notice it until the neurologist pointed it out. Now I have numbness behind my toes so that it feels like I have a rag balled up in my shoes. I have run for most of my life until about three weeks ago. I decided to give that up and take up other forms of exercise that are not so high impact. It was a difficult, emotional decision for me because running has represented a certain kind of freedom. But I have accepted that now and feel comfortable moving on. I am very glad I had 60 years to run without injury.

I also took statins for 15 years. The CMTA has a list of drugs that may be harmful to CMT'rs. I was taking a few of them at the time of my symptoms and there may have been a cumulative factor. The important thing now for me is to accept whatever happens and try to deal with things as they come up. It has been very helpful to correspond with others who have been dealing with CMT for may years. You are not alone.

Jon

Kitt--Thanks for including the URL's. I don't have that privilige yet because I haven't posted enough.

Jon