Re: came back from Cleveland confused!!!

[Guest guest]

Lenore,

Why does the doc think you have 2C? Did you have the complete genetic

testing panel? Was the biopsy a skin biopsy or was an actual cut made

and nerve/muscle cut out?

Gretchen

[Guest guest]

I have 4 generations of CMT on my side. My grandfather was studied by the VA as

one of the first documented cases. I had a nerve biopsy done may 2nd,this is

when the neuro in cleveland documented me with CMT type 2,the axonal type. My

nerves haven't broken down enough to be considered type 1.

I had a genetic test done but it was inconclusive because they didnt

know enough about the protein that was mutated. I have been fighting to have

everything documented,not only for me but for my family because it is hereditary

dominant. I am basically my family's guinea

pig,this way they can get tested as well.

At first I was told it wasn't CMT because I had reflexes. I

have had congenital bone deformities (tarsal coalition

being one of them) but there were others the Dr was

telling me about. I went through triple arthrodesis

surgery in 05 thinking I had simple orthopedic

problems. You can;t even tell that things were fused.

My ligaments are so stretched out that any replacement

would be pointless,the ligaments just wont hold up,

My lower leg muscles are just gone,I used to be a

dancer and a gymnast, It always hurt like hell but I

think its saved me a little. My core is still very

strong and it helps keep me upright,if the pain

wasnt so bad I could almost deal with the numbness and

twitches.

Lenore