Re: Participating in study to sequence my the complete genome

[Guest guest]

Kim,

I'm in that same Type 2 study at U of Miami. I signed up at the end of 2008.

Have had researchers call to question my family ancestory, I too may find out

what type of mutation I have.

Gretchen

[Guest guest]

,

Do you have to have a definate CMT 2 diagnosis?  I know I am axonal type from my

EMG. Let me know what you find out or if they may be interested in an unknown

sequence (no family history)

I did speak to them when I was there and my situation is hard for them to trace.

Keep us posted!

Jackie

[Guest guest]

Oh how great. The intake nurse is coming to my office tomorrow to take blood

and for me to sign releases. Have you given blood yet?

Kim

On Mar 11, 2010, at 10:54 AM, " gfijig " <gfijig@...> wrote:

Kim,

I'm in that same Type 2 study at U of Miami. I signed up at the end of 2008.

Have had researchers call to question my family ancestory, I too may find out

what type of mutation I have.

Gretchen

[Guest guest]

I had the same thing done when I was involved at NIH in Bethesda, MD.

Jackie

Re:  Participating in study to sequence my the complete genome

 

Oh how great. The intake nurse is coming to my office tomorrow to take blood and

for me to sign releases. Have you given blood yet?

Kim

On Mar 11, 2010, at 10:54 AM, " gfijig " < gfijig@... > wrote:

Kim,

I'm in that same Type 2 study at U of Miami. I signed up at the end of 2008.

Have had researchers call to question my family ancestory, I too may find out

what type of mutation I have.

Gretchen

[Guest guest]

What did they find out?

On Mar 11, 2010, at 1:24 PM, Jackie Sachs <jackiesachs@...> wrote:

I had the same thing done when I was involved at NIH in Bethesda, MD.

Jackie

[Guest guest]

Jackie,

What did they find out?

Kim

On Mar 11, 2010, at 1:24 PM, Jackie Sachs <jackiesachs@...> wrote:

I had the same thing done when I was involved at NIH in Bethesda, MD.

Jackie

[Guest guest]

Thanks Jackie - I have low normal nerve conductions 40 ish! So they think I have

CMT type 2. I have just completed the signing of paper work and history. It

was easy and quicker then I expected 1.5 hrs. And they are still looking for

people to participate!!!!

Kim

[Guest guest]

that i did not test positive for any of the known CMT genes. They also sent a

panel in for SMA and that did come

back negative. I think i perplexed them!

Re:  Participating in study to sequence my the complete genome

 

What did they find out?

On Mar 11, 2010, at 1:24 PM, Jackie Sachs < jackiesachs@... > wrote:

I had the same thing done when I was involved at NIH in Bethesda, MD.

Jackie

[Guest guest]

My EMG also showed likely CMT 2, but my neurologist said that i seemed to have

an extreme case of CMT but he did say when i asked if mine was normal, he said

that no 2 CMT cases are alike!

Do you have any family history of CMT. When i talked to them during the

conference, i think that was something they wanted as they would not know where

to start tracing with me for genes.

Jackie

Re: Participating in study to sequence my the complete genome

 

Thanks Jackie - I have low normal nerve conductions 40 ish! So they think I have

CMT type 2. I have just completed the signing of paper work and history. It was

easy and quicker then I expected 1.5 hrs. And they are still looking for people

to participate!!!!

Kim

[Guest guest]

I currently have family to trace - I am so excited.

Kim

[Guest guest]

Kim,

Does anyone in your family have known CMT?

Jackie

>

[Guest guest]

Jackie,

No! Lol I come an ethnic family from Pittsburgh. Very defensive and no talk!

Kim

On Mar 15, 2010, at 8:23 PM, Jackie <jackiesachs@...> wrote:

Kim,

Does anyone in your family have known CMT?

Jackie

>