Re: CMT Blood Tests

[Guest guest]

I didn't have a blood test . I had an emg test that gave us the type.

In a message dated 11/16/2010 10:25:35 A.M. Pacific Standard Time,

diane@... writes:

HOW in the world did all of these people afford to have the blood tests

done????????????

[Guest guest]

Hi Diane,

I was first diagnosed with CMT at age 10, as you know. It was by watching me

walk up and down the halls of the Dr.'s office and examing my shoes. There were

no " types " then, not even 1 or 2, and forget the subtypes. It wasn't even

considered " genetic " at that time.

While I haven't had the DNA testing, after I read a written report of my adult

baseline EMG/NCV, and it said " all units firing normally, with rennervation of

axons " AND reading Paolo Vinci's book, I put it all together that I have some

kind of Type 2.

My current neurologist has that on file and last week I asked him did he really

think I have CMT? He said I definetly have 'some kind of neuropathy' and said

he could do another EMG/NCV but it would still tell the same - not the subtype.

Same with the skin biopsy.Bless his heart, he said it's too expensive and a

waste of time for " us " - what a guy.

He did all the yearly visit office tests - with a pin on my feet and ankles,

touch my index finger to his, then touch to my nose, the tuning fork vibration

thing on my lower legs and feet, the reflexes, and looked into my eyes. All can

do, all clear.

Of course I'd like to know my subtype, if in fact I DO have a bonafide

diagnosis, which is why I gave some blood to the Miami center for Human

Geonomics on Type 2. If they find anything (like I test positive for a known

subtype, or if I have a new mutation, or anything else revalent to diagnosis,

they will let me know.

So for now I go with a recessive form of CMT 2 and see what the future holds.

But since I do not have children, nor will I be having any, the part of being a

carrier I don't need to know. A ton of Gen X, Y and Z cousins so far removed

maybe interested in the genetics of it all at some point, especially the

recessive part.

I spent one year in Zurich and Basel tracking down family on my father's father

side. Also spent time tracking down family on my mother's mother side. No CMT

there or anything even resembling CMT.

From using the tool at inherited health.com it really struck me that I no

nothing at all about my paternal mother's family, or my maternal father's

family. Sure I have photos and remember a few things about them, but nothing

that jumps to CMT.

Gretchen

[Guest guest]

Hi Diane, I guess on of the positive's to being in Canada is the test was

" free " . Although I put that in quotes since our taxes are outrageous, so its

not really free. Just a different way of paying for it.

Thanks

(Canada)

CMT Blood Tests

I am 46 years old and have been coping with CMT since early childhood. I was

only diagnosed at the age of 15. Prior to that I wore corrective UGLY shoes

because they did not know what was wrong with me. I had MAJOR RECONSTRUCTIVE

surgery on both of my feet between age 32 - 34.

Anyhow to this day I still do not know which type I am because last time

doctors discussed my being tested the insurance I had at the time would not pay

for it.

I've been reading posts here and other places online and I am amazed at how

many people know what type they have. HOW in the world did all of these people

afford to have the blood tests done????????????

I would love to know which type I have.

Diane Gracely

Coping with Charcot Marie Tooth

www.dianegracely.com

[Guest guest]

Hi ,

I am also in Canada and wondered did you get the test done through your MD or a

specialist? I was diagnosed over 10 years ago along with two of my children but

still don't know which type.

Warm wishes,

[Guest guest]

Diane,

I am the same age and was diagnosed as a child by just the physical symptoms. I

remember those dreaded, ugly orthopedic shoes and would sneak clogs out of the

house to change into on the way to school! I had surgery on my feet & ankles at

21 and went along just fine until my early 30s when I started to notice a slight

change in symptoms. I went to a neurologist at an MDA muscle disease clinic

nearby for a baseline evaluation as an adult. Ten years later, the new Neuro

there asked me to have the DNA test and offered that the clinic would pay

whatever my insurance would not. He suspected type 1A b/c the EMG/NCV I had

already had pointed toward type 1, and 1A is the most common. The DNA test came

back negative for all types of CMT and for HNPP too. There are more types of

CMT, but no tests for them at the moment.

My suggestion would be to find an MDA clinic and see if they will cover the

cost, or find a neuro that is doing research on CMT and ask them if they will

pay. My impression from my doctor is that their group is willing to pay the

difference b/c every person with a complete diagnosis gives them more

information. That knowledge is power for us and the researchers.

Good luck!

>

> I am 46 years old and have been coping with CMT since early childhood. I was

only diagnosed at the age of 15. Prior to that I wore corrective UGLY shoes

because they did not know what was wrong with me. I had MAJOR RECONSTRUCTIVE

surgery on both of my feet between age 32 - 34.

>

> Anyhow to this day I still do not know which type I am because last time

doctors discussed my being tested the insurance I had at the time would not pay

for it.

> I've been reading posts here and other places online and I am amazed at how

many people know what type they have. HOW in the world did all of these people

afford to have the blood tests done????????????

> I would love to know which type I have.

> Diane Gracely

> Coping with Charcot Marie Tooth

> www.dianegracely.com

>

[Guest guest]

Hi , my Neurologist wrote the order for the test. He is at McMaster in

Hamilton. Were you diagnosed with EMG?

Thanks

Matt

Re: CMT Blood Tests

Hi ,

I am also in Canada and wondered did you get the test done through your MD or

a specialist? I was diagnosed over 10 years ago along with two of my children

but still don't know which type.

Warm wishes,