My Introduction

April 3, 2008

Hello all,

I'm new to the group. I'm 44, and was diagnosed with CMT in the late 1960's. Of

course, the diagnosis was made based mainly on family history and my high

instep/arches. I know that I have Type 1A, as my teenage son was just diagnosed

this summer with a genetic test.

When I was young, I wore shoes with the outer sole built up (didn't do much),

and then a shoe with metal bars up each side of each leg and attached to a strap

below the knee. They didn't do much either, plus I was embarrassed by them, so

for the most part, they stayed in my closet. As an adult, I had some orthotics

made for inside my shoes, and they helped for a while, but then became more

uncomfortable as my legs became worse.

2-1/2 years ago, I had a subdural hematoma, and after the surgery, I had some

seizures (since resolved). This actually was fortunate, in that the Neurosurgeon

consulted the Neurologist, who is the director of the local MDA clinic. He

referred me to a Physical Therapist, who then got me set up with an excellent

Orthotist, and I finally got AFOs. I can now walk with confidence, as well as

stand for longer than a minute without the feeling of my legs giving out.

As far as neuropathy, I do get periods of burning and pain in my hands, and also

have restless legs. But I also have kidney failure, and this temporarily

worsened my neuropathy. I started dialysis in August, and it took a good 3-4

months until the pain calmed down again. My guess is that the uremia flared up

the neuropathy. As for the kidneys, I have another autosomal dominant disease,

Polycystic Kidney Disease. I'm very close to getting a transplant; it will be

nice not to have to go to dialysis 3 times per week.

Career wise, I am a RN in a Pediatric Clinic, and despite my CMT and PKD, I

still work full time. I also have a sister with both of these diseases, and she

is dealing with phrenic nerve involvement from her CMT. Not yet on breathing

assistance (Bi PAP), but she does get short of breath easily with exertion.

I look forward to being part of this group.

Jeff

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