Sv: Another new Member

[Guest guest]

welcome Judi.........my disease havent been " stoned yet " and that (sorry dont

know how to say this in a nice language) pisses me of. when I think back I think

I have had CMT for 12-15 years but first now they think they know what it is (

Had a bad foot and knee for god knows how many years) I just want the Doc´s to

say " Dennis you have CMT " so I cant go on with it.....not so cool if it is NOT

CMT and I learn a lot about CMT.

----- Original Message -----

From: john dawson <johnjudi@...>

<egroups>

Sent: Tuesday, January 02, 2001 12:37 AM

Subject: [] Another new Member

> Hi,

> My name is Judi. I'm 52, Mom to 3 daughters and Mom-mom to 3 g- sons and 3

> g- daughters

> As of the moment I have not been positively dx with CMT. I've felt for years

> that my dx is CMT.

> Have had a muscle/nerve bx about 6 years ago. Results were a non-specific

> mitochondrial disease.

> December 15 had another one done this time at Hopkins, the prior one

> was done at Jefferson in Philly.

> The docs all are pretty certain the dx will be CMT. My mother was

> undiagnosed but had these skinny little ankles, developed calf and claw foot

> and LOTS of pain.Also diabetes. I have always had the same ankles and calf,

> really clumsy, beginning to get claw foot and also have lots of pain and

> diabetes. My middle daughter has the same and diabetes too. Her little

> girl,4 years has a part of her brain missing(Agenesis Corpos Callosum) The

> nerve bundle between hemispheres is absent.Very rare 1 in 10,000 live births

> with no cause. My oldest daughter has mild appearance but nothing else. Her

> youngest 7 a girl has the clumsiness, the plodding gait and even though she

> is little, petite she has a thinner leg than her sister. One of my three

> brothers all about 20 years older has " chicken legs " but his son has the

> same skinny ankles, developed calf as I do and lots of pain and again

> diabetes.Also my CPK levels are always elevated 700 range and after any

> activity out of the usual my urine is very brown colored(muscle burning?)and

> I'm in pain 48 hours after the activity.This past year my symptoms and

> weakness and muscle fatique have gotten so much worse that i again decided

> it was time to pursue my dx.

>

> First, I hope you don't mind me being here even though my dx isn't in stone

> yet.Second, I've put up so long with docs saying my foot and leg problems

> were diabetes related that I'm curious as to how many others have diabetes.

> For my family it appears to be running hand in hand with the CMT

> symptoms.Third, sorry, does anyone have trunk pain? I often get a cramping

> feeling that wraps itself around my body at the diaphragm/rib area.

>

> You are running a thread on books right now. What are the titles of both.

> I'm sending tomorrow for the CMTA info.

>

> Thanks for listening

> Judi

>

>

>