New DX - Gene Mutation & Mito

Have a child with SM/Chiari? Share issues unique to children and their caregivers.

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New DX - Gene Mutation & Mito

Postby TiredMom » Mon Sep 14, 2009 11:43 pm

So we saw the developmental pedi today (we love her) and went over the results of Preston's genetic testing. She said there's a duplication on Chromosome 15 (not the 15q problem, whatever that is--I still have to look this all up--but a minor duplication); and indicated that this kind of dubplication has been tied (in research) to CNS malformities (like Chiari) and to developmental disorders (like Asperger's). I've posted a note off to the NL to see what he thinks. She's been at this gene thing for years so I'm fairly comfortable with her assumptions; but, she is referring us to a genetic specialist for confirmation. She's also concerned about a mitochondrial disorder (unspecified). Who knows what tomorrow will bring? I'm glad though, on the one hand, as I'd hit that "What did we do wrong to make him have this?" point (I guess we all hit that at one stage or another... it just took me longer to get there). I'm not so happy about adding another disorder to the mix though.
Mom of 9 yo boy with Chiari I, Pineal Cyst, Microdup. Synd. 15q, Mito. Disorder, Ctrll. Sleep Apnea/Sleep Mvmt. Disorder, Asperger's, Hypotonia, Aphasia, GAD, OCD, occipital headaches, etc. Visit at
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Re: New DX - Gene Mutation & Mito

Postby youngwife » Mon Sep 14, 2009 11:55 pm

:( I am very sorry that your son has these conditions, but am thankful that you are finally getting answers instead of just more questions.

We will be seeing the Geneticist next month, and I wish I held out more hope for it providing us with answers. Your story has encouraged me that it may be more profitable than I expect...we'll see!

Blessings to you from another very, very tired mom,

Homeschooling mom to 6 wonderful blessings from the Lord. ~ "Let no corrupt communication proceed out of your mouth, but that which is good to the use of edifying, that it may minister grace unto the hearers." - Ephesians 4:29
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Re: New DX - Gene Mutation & Mito

Postby lttutrow » Tue Sep 15, 2009 12:10 am

I left you a message on your CB site about another family, but I think there was a Mom here not so long ago whose child had just been diagnosed with both Mito and CM. Perhaps she's still here and will see your post and chime in?
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