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Do you know anything about Mitochondrial Disease?

7 replies

mm22bys · 16/07/2008 13:00

Hi,

DS2's muscle biopsy has shown an abnormal result - slightly reduced complex i (respiratory chain enzyme). Neither the neuro muscular guy nor the geneticist we saw at GOS were able to determine if it is the cause of Ds2's problems, so we awaiting their discussions with the metabolic people at GOS.

Do you know anything about Mitochondrial disease? What is the prognosis? Did your DC improve?

Thaanks,

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jimjamshaslefttheyurt · 16/07/2008 17:13

I know its been implicated in regression following the MMR and autistic like symptoms.

THere are lots of different mitochondrial disorders though.

Check out carnitine (ask your paed). It can be helpful in some cases of mitochondrial disorder.

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FioFio · 16/07/2008 19:27

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FioFio · 16/07/2008 19:28

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mm22bys · 16/07/2008 21:50

Thanks, DS2 has been behind with his immunisations, but he only has the MMR to go, which if he's well he'll have in the next month (as will DS1, decided for them to have them at the same time).

The neuro guy at GOS said that it was only a little below the lower extremity of normal, so he didn't know if all DS's problems are down to it.

I have found some really sad stories on the web (as you do...) but hopefully we will have some answers within the next month or so.

From what I've read the only "treatment" is therpay, diet and supplements like carnitine.

The ped we saw at the CDC was very negative when she saw him back in September last year - we haven't had a review since then, but we have to see them in a month, we hope she will see some progress.....

Thx

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PipinJo · 16/07/2008 22:36

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jimjamshaslefttheyurt · 17/07/2008 22:26

this is a bit a nothing/pointlss article

The person to keep an eye on for information is David Kirby. He gets a lot of stick from many involved in the autism community, but his blog is bang up to date with any developments. He cites the references so you can go directly to the source and check what he's saying.

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PipinJo · 19/07/2008 23:59

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