other diagnoses

[Guest guest]

Hi all.

First, thanks so much for your helpful suggestions about stair-lifts

and other issues related to my daughter's upcoming surgery. I am

sorry I have not responded sooner. I am feeling very overwhelmed at

the moment. I feel like I am going to short-circuit. I don't even

have CMT -- only my daughter. My only daughter.

Recently, Dr. Crawford at s Hopkins questioned her CMT2

diagnosis. He did not make the original diagnosis (performed by

at GW in DC). But he, like others think her presentation is

unusual. In part because she has presented so early, and in part

because her sensation is intact. He says that sensation usually goes

before motor ability. He wants to do another EMG to see if she has

Spinal Muscular Atrophy (possibly the distal variety). He is also

kicking around the idea that she may have a non-progressive

congenital deformity affecting the peroneal nerves or muscles (which

would be good news). He is of the belief that too many conditions

may have been sucked into the CMT category which may account for some

of the differences in symptoms, progression, spontaneous mutation

within a family, etc. Has anyone else heard this? Has anyone else

ever received varying diagnoses?

Welcome to Chen (Are you from China or are you Chinese-American? I

lived in Wuhan for a while.) And, welcome to . How old is

? What kind of CMT do you have and why does your daughter

have a more rare form? My daughter, Alice (age 8), may have some

learning issues (or she may simply be distracted by the fact that she

has had to come to terms over this last year with her CMT diagnosis

and the prospect of surgery -- for a kid who needs to be held down by

three adults just to get an innoculation).

Rose-Marie, your English is beautiful and your insights a gift. I

miss you when you don't write.

I read Ruth's discussion of the interplay between insurance and MDA

benefits and thier coverage of the cost of AFOs. I thought it a good

description of the process.

Regards to all

Barbara