Re: Hi, Barb

[Guest guest]

Hi all!

I can tell you from our family history that the " skip " in generations is

more what Gretchen has always said - this disorder is very random in how

the intensity will manifest itself between family members - not just

family generations. My Mom had cousins where the sister was severely

effected but her brother had little if any signs, and another who I

really did not know, reportedly had none at all. The one I did know had

3 daughters, none of whom show any signs. The one has 2 sons, and both

have CMT, one to the point of needing reconstructive surgery. The other

faithfully wore his night braces and has little issues as a young adult

now.

Even between my sister and myself, I was the first diagnosed, when I was

about 20. At that time, I was just sick of hurting my ankles so much and

went to an orthopedic (who referred me to a neurologist...). They gave

me some exercises, some directions to point my toes to my nose when I

walked, and eventually a sock like thing to help give me some support. I

was in my mid-30's when a traumatic ankle injury that I started needing

more attention. After PT, surgery, more PT, it was clear I had come as

far as I would and then needed my first AFO. Further progression was

very gradual until my mid-40's and man has it accelerated. My sister was

athletic when younger, active always, and was diagnosed in her 40's. Her

CMT has progressed so rapidly that now, in her let 50's, she is in the

process of having a wheel chair and/or scooter approved.

Mark

>

> 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

>

>

>

>

>

>