Tuesday, November 26, 2013

Still dreaming of Genie - and so should you!

Hubby and I learned that our genetic tests of three months ago probably didn't provide us with the root of C.'s problems. It seems I have the same genetic duplications as she has which means that she inherited them from me but they are not the culprits.

And the deletions that she was found to have - which I do not have -  also appear on the genes of many healthy people. So they may or may not be the source of C's impairments.

We'll have a second meeting with the geneticist and the genetics counselor to learn more about the implications of this result. They'll also advise us on what tests to do next. The most logical step would be the full exon. While I'm not sure exactly what that means, I do know it costs several thousand dollars. But predictions are that the price will plummet in the not too distant future. 

If you too are grappling with undiagnosed disabilities, then I'd recommend keeping that test on the back burner. Sometimes discovering the gene behind the disability can open doors to treatments you've never tried. They will probably only mitigate the symptoms, but even that can be a godsend.

And you can always hope for a miraculous finding like that of the teen-age Beery twins. The results of their genetic testing led to a treatment that totally transformed them. Diagnosed with dystonia, one of them severely disabled,  they are perfectly normal today. I saw them on a documentary but you can read their amazing story here.

In the meantime our next great white hope is C.'s new dose of Valproic Acid. This morning I raised her to 700mg twice/day. 

And another spot of good news: C.'s appetite returned just as inexplicably as it disappeared ten days ago. (I have started adding salt to her food so that might have helped.)

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