Re: Recent news RE: DSS

[Guest guest]

Hello All,

I found an email sent to me by one of my doctor's and the ironic part is

that it was written by one of my old Doc's from back in Philly! Small

world. I will just copy & paste it into this email. Basically, it sounds

like there are THREE MUTATIONS that can cause DSS - great... Anyway,

here's what it says:

" from MDA: Pleasure, M.D., Children's Hospital of Philadelphia, PA

There has been considerable progress in understanding the

genetic basis of Dejerine-Sottas disease (DSS).

There are now at least three separate mutations that have been

recognized to cause this condition. There has also

been considerable progress in understanding the functions of the

proteins that are encoded by the genes that are

mutated in DSS. Research is progressing; however, there has been

very little advance in understanding how to

treat patients with DSS. "

I thought this may be of interest to those with DSS or if anyone is

trying to understand my rare condition.

But since they still categorize it under the umbrella of CMT or HSMN, I

am still able to 'play' in this sandbox with all of you - which is the

one thing that keeps me going - all the love and support I have found in

this group.

Peace & Love to ALL!

Judy g.

jim nash wrote:

> I have't been ignoring you but been workin' hard, one

> of our people has had a kidney transplant and the rest

> of us are filling in.

>

> First, Judy; I read your reply that D.S. is now

> considered to be inherited thru an autosomal DOMINANT

> means! Wow, I learned " sumthin " . And that your case

> may be spontaneous, intresting.

>

> Now, Susie; As I mentioned above we are filling in for

> a sick comrade. As a water and sewer plant operator in

> a small town in west central Ohio I see my share of

> cold and wet and I am really suffering this year. I,

> similar to Judy actually get relief from neurogenic

> pain in the cold. What happens though is that due to

> decreased sensation I must be careful nor to get my

> hands too cold or their will be absolute hell to pay.

> Mobility is also impaired, muscles just refuse to move

> quickly. The doctors say I do not have " drop foot " ,

> but they always see me in a nice warm office. It sure

> as hell looks like it after standing in ten to twenty

> degree weather for an afternoon. Then when I thaw out

> the muscles start that damn jumping. My right (good)

> hand is tremoring as I type this. I was going to go

> deer hunting today but I am so tired and it is so

> cold, although a beautiful day. I usually use a pistol

> to free up both hands (keeping them warm) but today

> must use a muzzleloading rifle which acts like a heat

> sink, just sucks the heat right out of the old hands.

> What the world needs is some idiot with numb fingers

> and a gun.LOL So I'll do laundry instead.

>

> Now I feel bad griping about minor stuff and thinking

> about what Judy (and others) must put up with. I am

> going to the doctor on the 21st of Jan. and asking

> into AFOs, really need relief. Maybe if I just acted

> my age!

>

> Guten Tag

>

> Jim Nash

>

>

> __________________________________________________

>