Friday, March 12, 2010

Mitochondrial Disease -- a continuing question mark for us

Someone in a support group forwarded me a link to this recent interview about mitochondrial disease and autism. The first time I heard of "mito disease" (I think) was in relation to the Hannah Poling case. At the time, it seemed like some ultra-rare thing that surely didn't apply to us.

But the more I have heard about it the more I have wondered. For example, it seems to have something to do with, among other things, energy production, and T certainly has had a lot of low energy moments (punctuated by periods of hyperactivity). We thought of him as a "laid back" baby, actually. And the interview talks about these fevers ...

T DID have several viruses during the first couple of years and has had very high fevers before ... up to 105. For some reason, the pediatricians and children's hospital don't seem to take fevers very seriously anymore, which I find confusing.

I remember calling a friend once, freaked out and sitting in the bathtub with T ...

Well, anyway ... so I wonder again ... could this really apply to us?

I found this summary from the Cleveland Clinic in Ohio (whoever that is), and they state that "[d]epending on which cells of the body are affected, symptoms might include:

•Poor growth
•Loss of muscle coordination, muscle weakness
•Visual and/or hearing problems
•Developmental delays, learning disabilities
•Mental retardation
•Heart, liver, or kidney disease
•Gastrointestinal disorders, severe constipation
•Respiratory disorders
•Increased risk of infection
•Neurological problems, seizures
•Thyroid dysfunction
•Dementia (mental disorder characterized by confusion, disorientation, and memory loss)"

Apparently, it doesn't show up the same way in every child. The interview claims that some kids with mitochondrial disease don't have regressions, like Hannah Poling had. (I've never been able to decide if T has really had "regressions.")

Certainly several of these things are familiar to us, like poor muscle coordination (hard to say what is 'loss' in a developing infant), visual and hearing problems ... does this include processing disorders?, developmental delays, gastrointestinal disorders, constipation, respiratory disorders, neurological problems, maybe even increased risk of infection ...

I don't know! The Cleveland Clinic claims the odds are about 1 in 4000, in the general population, which sounds pretty low. But the doctor in the interview claims that about 4% of children with ASD might have it. That's pretty high!

I think it's very expensive to try to get this diagnosed. There are some new blood tests, but they won't catch every possible type. Otherwise, from what I've heard, it's horrible. Muscle biopsies, spinal taps.

There's some sort of supplementation that folks in my support group call a "mito cocktail," but I don't know (a) how much science is behind it; (b) if it really works; (c) how expensive it is; (d) if it's potentially harmful ....

So many, many, many mysteries and they all seem so important. It's really overwhelming.

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