Re: Digest Number 4087

[Guest guest]

Hello,

What would be involved with the trial and how bad do the symptoms have to be.

Our family has I believe mutation 3243 (have to look it up). I myself have mild

symptoms with fatique and blood sugar that goes up with exercise and heat and

physical exercise intolerance as my main symptoms. I am 43. My 13 yr old son

as temperature control problems, social problems--one school counselor thought

Ausperbers disease, and dismobility/constipation. He had severe constipation

problems for almost 2 years until January 2003 when we decided to test him and

he started taking Carniqgel by Tischson. Now the problems only come when he

does not take the Carniqgel or eats a particularly large meal.

My sister went into a 4 day coma in 1994, recovered with no ill effects. In

February 1996 did same thing but this was followed 2 months later by a stroke

and then 10 hrs of seizures and a two week coma. Was rehabbing when had relapse

in October and died. She was the one diagnosed by Dr Tick of Milwaukee

WI. In April 1996 blood sent off for testing, had biopsy in June 1996 while in

coma. Experimental drug DCA did help her to come out of coma. She was 5 ft 105

lbs but 87 lbs when she died.

My mother died at the age of 49 in 1988 from an apparent epileptic seizure. She

was on anti seizure meds since age 36. She also was 5 ft and 105 lbs and 88 lbs

when she died.

My brother is now 39, and also very skinny. He has not been tested but is

having fatique symptoms and leg pains now. He has Vitilgo very badly on his

face with almost all the pigment gone in big splotches.

So, he and I would like to know more about your study.

Janet Sample in Wisconsin. My brother is in Texas near Beaumont.

FW: Digest Number 4087

Hi all, I think that I can finally send an email to this group (always

seemed to get blocked).

I am planning a trial of triacetyluridine for MELAS syndrome - I follow

about 25 folks with DNA proven MELAS but we need more volunteers. If

anyone with definite MELAS mutations (i.e., 3243, 3271, 3260, 3291) is

interested in receiving information about the trial, please send me an

email.

best

mark

Mark Tarnopolsky, MD, PhD, FRCP©,

Professor of Pediatrics and Medicine,

4U4 Dept of Neurology,

McMaster University Medical Center,

1200 Main St. W., Hamilton,

Ontario, CANADA, L8N 3Z5

1- (76593)

FAX 1-

pager - 1- 76443 (#2888)

tarnopol@...

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