Re: A newcomer to the group!

January 4, 2004

Hi,

Just wanted to say that our kids sound a lot alike and I'm in that same waiting situation! We see Shoffner on Jan 15 and 16th for skin, muscle biopsy and CSF evals to try to find out what is going on with our almost 3 year old, Asher. We've been dealing with the low muscle tone since he was around 9 months old (it was there before but not something I really woke up to until he was 9 months old). No one called it cerebral palsy, though. Does your son have some spasticity with his muscles? Is that why they called it CP? I've heard that CP is another "wastebasket" diagnosis when it comes to low tone - sort of like "benign congenital hypotonia". My son has been dealing witht the failure to thrive issues for the last 3 months and in December we were ounces away from an ng tube or g tube. He will be weighed again Tuesday. We still don't know if he'll need some sort of tube feeding.

How is your son cognitively? Did you have to keep the ng tube in? How was your visit with Dr. Shoffner?

Anne R

January 4, 2004

Welcome to the group! I feel your frustration. Opinions on this list are

mixed re: Shoffner, but we liked him very much and got our son's

diagnosis through him. February or March are not so long away and you will

have your answer soon. Of course, it is not a cure, but at least you will

know which " camp " you belong in. Certainly, mito is also associated

strongly with autism and a mito diagnosis might explain both your son's

conditions. As far as the doctor's opinion that your son would die by the

time he reached 50 lbs. . . . . That's a new one! I have never heard such a

bold prediction! Take heart that many on this list were given dire

prognoses and their children continue to live.

God bless, Lori, mom to , complex I and IV

A newcomer to the group!

> Hi everyone,

>

> Mitochondrial disorders is a big question mark for us at the moment.

> My son Charlie is 3 years old, he was diagnosed with cerebal palsy at

> 8 months old. He has very low muscle tone which seems to be getting

> worse. November 2002 he was in the hospital for failing to thrive,

> his doctor informed me that Charlie had something else going on

> medically as well as the cerebal palsy and he would die when he

> reached 50 pounds in weight.

> December 2003 we were in the hospital for 2 weeks for malnutrition.

> Charlie refused to eat, a g-tube was put in and lots of labs done.

> We were then transfered to Atlanta, GA for a muscle and skin biopsy.

> A spinal tap was also done and lots more blood work.

> He had a EEG and a MRI, the MRI showed deteriation of the grey matter

> on both lobes and three other areas.

> We saw three neurologists, one said he was not concerned because

> hospital's have different MRI machines with different imaging.

> Needless to say I was frustrated because no one was answering my

> questions. I really think that the neurologist's don't know.

> This is such an emotional roller coaster, I'm a single mom with

> another son who has autism. We won't get the results from the biopsy

> until Feb or March. Any advice or help would be appreciated!

>

> Please contact mito-owner with any problems or questions.

>

January 4, 2004