sporadic new mutation severity

[Guest guest]

Sally,

First, remember this research paper was 10 years old, so the actual

research took place before that. Out of all the research I have come

across, only A FEW papers have referred to severity in sporadic new

mutations.

And just to share with you from my own experience with CMT, I too, am

a " sporadic new mutation " . And there was a time all my doctors said

I would just get worse and worse with age. One went so far as to

predict I'd NEED full-time use of a wheelchair by the time I was 30.

Well, Sally, you know what happened? 30 came and went 22 years ago, I

am more active now than ever, no wheelchair, no AFOs, tremors and

foot pain under control, and most of the time I forget I have CMT.

So, I have come to read research with interest, and also try to read

between the lines, around them, etc. Know what I mean? Even in CMT 1A

there is a diversity of symptoms that CMT persons have, let alone the

diversity in symptoms with the other 45 or so of CMT subtypes. No

one, not even the best researchers and doctors can " predict " severity

or how a particular type of CMT will progress.

I have been going through some of my mother journals she kept during

her life, and came across a page on my CMT diagnosis. This is her

entry, plain and simple: " Dr. X said it is called Peroneal Muscle

Atrophy or Charcot Marie Tooth. He said it may be slightly

progressive or not at all. Told us to have her swim alot and walk in

the sand. "

So there you are, some CMT history and personal experience from me -

another sporadic mutation.

~ Gretchen