Mitochondrial disorders - Mothering Forums

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#1 of 6 Old 06-13-2007, 06:21 PM - Thread Starter
 
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For Mamverdi and other genetic/metabolic moms...

I recently talked to our ped about my concerns with my son's low energy level and weird poop, and he actually brought up mitochondrial disorders. But what leaves us both scratching our heads is so many of his issues are very subtle, the biggest being how tired he gets when playing. He's also growing fine, staying between 20-50 percentile for weight and 80 percentile for height.

We have a genetics appt for October. What should I expect if we go down this road?
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#2 of 6 Old 06-13-2007, 07:08 PM
 
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My son has a suspected mitochondrial disorder. You need someone who knows what tests to run.
Have you seen this site?
http://www.umdf.org/
If you would like next week I can give you a list of the tests they run at Cleveland Clinic (mito specialists) for mitochondrial disease. Tiredness is a big part of it. Any muscle weakness/low muscle tone? Constipation is usually a problem too.

Rachelle, mommy to 8 year old boys! 

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#3 of 6 Old 06-13-2007, 09:29 PM - Thread Starter
 
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Low muscle tone, mainly in his trunk. Weird foamy dark poop, not constipation.
Developmental delays. Autistic sister.

He gets very tired easily, he played outside this afternoon for a half hour (and it was only in the low 80s and in the shade) and when he came in he was acting lethargic and out of it. He doesn't non-stop play like other 2 year olds.

We're seeing Moran at CCF for our initial visit to the genetics clinic. I am trying to figure out which ped neuro to see right now.

Oh, and my ped is awesome. He's a bit of an absent minded professor, but he takes my concerns seriously and really listens.
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#4 of 6 Old 06-15-2007, 03:10 AM
 
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See Parikh. You can usually get into see him w/in a week.

Yes it does sound like mito.

And you might find that Autism is really something else in your daughter.

I'm Exhausted, but I'll sub. Ask questions, if I can, I will answer.
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#5 of 6 Old 06-15-2007, 12:38 PM - Thread Starter
 
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I made an appt with Parikh this morning but it won't be until mid-August.

I have sort of a conundrum because I do need him to be diagnosed soon with autism, insurance will pay for ST and OT for autism but not developmental disabilities, and an autism diagnosis makes working with the school district 10X easier. His delays are very much consistent with ASD. Oh well, we'll figure it out eventually.

I doubt my daughter has a metabolic or mito condition. She in many ways is opposite of her brother. She is very tall for her age, very active, and has lots of energy.
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#6 of 6 Old 06-15-2007, 07:07 PM
 
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All I can say is you do what you have to do. I think Autism for some kids is accurate without being correct. My two boys are very opposite and both are affected.

I can't believe he didn't have an appointment until mid-August!

Who did you get your AS diagnosis from for your daughter? Can you go to them?
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