Re: diagnosed after 35

[Guest guest]

, to avoid confusion I'll call myself " Buckeye

Jim " ;

I was initially dx'd 11/01 at 51 ears of age. I

presented with burning and tingling with numb spots in

my lower legs-feet and hands. I have always had an

extreme tendency toward turning ankles but played high

school football (broken ankle) and served 2 years in

the U.S. Army. I have extremely FLAT feet and have had

tendon releases, osteotomies, reduction of bunions,

and excision of Morton's neuromas.

My father's hands were wasted, he had high arches, and

hammer toes. He was dx'd with " ulnar nerve palsy " had

surgery twice to no avail (he still couldn't turn the

key to start his car. His dad had similar but much

less severe issues. My dads brother has high arches as

well and it was said the whole family did.

In 2001 a tragic death of a young cousin brought

family from several states together. I noted that my

dads cousins, some of their children and grandchildren

all had high arches, walking difficulty and hand

deformities, one had leg deformity. At that time I

thought " how lucky I am that this stuff whatever it

be, didn't affect me (remember the flat feet). At that

time I was having trouble keeping my feet under me and

used off the shelf ankle braces to exercise and act as

crew chief for a local stock car racer. The next year

I started having hand issues, pain, numbness,

tingling, and lack of dexterity. I remembered a cousin

and called, told her what was going on, that I KNEW

SHE HAD SIMILAR ISSUES and wanted to know what was

going on. A long sigh was followed by " Didn't they

tell you " ? " That we have CMT! " " OK, what is that? " She

explained that her daughter at one year of age (now

22) had hip displasia, while diagnosing that the

doctors had noted the symptoms of CMT and asked the

mother if her or her husbands family displayed similar

traits. " You mean like this? " showing a foot. The

doctor then asked if either of her parents had a

similar deformity and she replied that her dad did,

and so did his dad (my grandads brother) and our

greatgrandmother. Bingo, the classic autosomal

dominant pattern. They have been dx'd with type 2

based on nerve conduction studies. None of us have had

the blood test yet but the thinking is now that it

could be heretitary neuropathy with liability to

pressure palsies (duplication of the pmp22 gene

instead of a deletion as in type 1A), cmt type 1B, or

one of the type 2 variants.

I have been Dx'd, un dx'd and re dx'd all by different

doctors who (untill the last one) knew little about

the disease. I now have AFO's (luv em), a bum left

hand, an understanding of this stuff that makes my

GP's head swim and sometimes at attitude of disdain

for the medical profession in general that is only

quieted by the rare jewell that I stumble across in my

quest to get answers.

Sorry I rambled on so, but I'll bet there are similar

stories out there.

Jim Nash in Ohio