Hi, Barb

[Guest guest]

Hi, Barb,

Ons vir jou Zuid Afrika!!

My wife (AKA: She Who Must Be Obeyed) is from Johannesburg, and I think

Pretoria is one of the loveliest cities I've ever visited. (Please say high

to the reptile park for me--the one that's halfway between Pretoria &

Jo'burg and is called something original like " Halfway House. " )

You bring up a question that really puzzles me. You mention that your

parents did NOT have CMT, but that you do, hence the condition has obviously

skipped a generation. I didn't think that was possible. And then I read an

answer to your post by Gretchen, who ALSO has parents who didn't

apparently have CMT.

See...this is what is so vexing about CMT--even the EXPERTS (or at least

neurologists and their ilk, who you think would be better informed) give

conflicting opinions. What I've been told--by " experts " --is that CMT does NOT

skip generations, and that it's DIRECTLY transmittable to offspring. One

of my two sons--a physician--was diagnosed with CMT, which is how I learned

that I had it myself. My other son, who turns 40 this year, has absolutely

no symptoms, nor do either of his three children.

But from what you and Gretchen say, apparently CMT CAN skip generations.

If this is true, can my unaffected son and/or his children pass on the CMT

gene--something I'd been told wasn't possible?

Also, I'm surprised to hear that CMT can be determined through a lumbar

puncture. I'd been told that the test for CMT is a complicated one and costs

thousands (plural) of $$$, and that insurance doesn't cover it.

I was a career journalist and I speak fluent medical, but, you know, I

don't think I've ever come across a condition such as CMT that has so many

conflicting reports as to what it is, how it's diagnosed and how to deal with

it.

Having only been diagnosed via my son four or five years ago, I'm still in

the learning stages of this insidious disease, but I'm amazed that so

little is known of it in the medical fields of neurology and family practice.

Anyhow, Barb, I think you'll like this forum.

--

In a message dated 9/14/2010 9:55:08 A.M. Pacific Daylight Time,

bartz.barb@... writes:

Hi, my name is Barb and I was just diagnosed with CMT a week ago. I am so

happy to have found this group where I can ask questions and access

information about CMT. I am 52 years old, an American, but am currently living

in

Pretoria, South Africa. My symptoms started about 2 months ago- I think.

The main symptom is numbness in my toes and feet, along with less movement in

my toes. I have no pain. My hands also experience tingling- mostly when I

am out walking and swinging them back and forth. They turn a bit darker

color and feel tingly. For awhile I was waking up at night noticing that both

hands were numb, even though I was not laying on top of them. This is what

first tipped me off that there might be a problem. I have also had a few

days (sporadic) of weakness in the grip of my right hand. Today it is okay.

A month ago I went to my neurologist (I also have hemifacial spasm and am

receiving Botox injections from a neurologist- so am very thankful to have

access to specialists here), after first consulting with my GP doctor. He

gave me an EMG and the results showed demylenization and significantly

slowed nerve response. He sent me to his colleague who specializes in nerve

diseases. After examination, she said it was either CIDP or CMT. She ordered a

lumbar puncture which I had last Tuesday. The lumbar puncture was normal,

so she said I am dealing with CMT and it is slowly progressive and there is

no treatment or cure. She suggested I have a nerve biopsy to see exactly

what is going on, but since a biopsy won't affect treatment options (and both

our children are adopted), I see no reason to have one at this time. So I

have been on the internet for the past week trying to find out everything I

can about the disorder. My parents did not have CMT, so it is a bit of a

puzzle for me. The other thing I should mention is that I had these same

symptoms (only worse) about 6-8 years ago. I was living in the Philippines at

the time, and went to my neurologist for an EMG. I can remember him making

the same comments about slowed nerve response in all four extremities. He

didn't know what it was at the time (he hoped it wasn't Guillan Barre), but

it went away completely and I totally forgot about it until it returned

many years later.

I will be returning to Minnesota in December for 3 months, and am

considering seeing a specialist there to get a second opinion and perhaps more

information about the condition. Does anyone from Minnesota have any

suggestions on doctors? Is it important for me to know what kind of CMT I am

dealing

with? I have been reading about genetic testing on the internet. Is this

the only way to know for sure what type of CMT I might have?

I notice there is lots of information in the files on the website.

However, when I try to access most of them (including the folder- About -

I

try and open the individual files and get an error message which says " the

file is unavailable and the link appears broken. " Does anyone know why I

can't open the files?

Well, I'm sure I'll have lots of other questions, but for now I'm just

trying to read everything I can about CMT and not dwell too much on how it may

alter my future.

Blessings,

Barb Bartz

South Africa