Friday, January 24, 2014

An unexpected genetic opportunity

I have always been a staunch fan of Murphy's. Events in our lives have repeatedly supported him. But it appears that his Law needs a proviso:
When you are scrounging around for genetic testing to solve the mystery of your child's disabilities and all of the testing options are out of your price range, a free genetic study will land on your doorstep.
Here is the background. Yesterday, out of the blue, a geneticist whom we once visited several years ago, called to offer us the opportunity to participate in a genetic study of children with epilepsy. Free of charge, our daughter C. will be tested for anomalies in 140 genes that have been linked to epilepsy.

Murphy, did you hear that? This is almost precisely what we'd been hoping for.

Of course, I would have been elated instead of merely very happy, if the study involved the full exome rather than only epilepsy-linked genes. We're a bit skeptical about finding a genetic basis for C.'s epilepsy since we are convinced that it erupted as a reaction to her MMR vaccination; her first seizure came within ten days of being inoculated. Besides, some neurological damage - moderate developmental delays - had manifested even before C.'s MMR.

Nevertheless the possibility remains that a gene triggered the vaccine reaction by placing her at high risk for developing epilepsy. In that case, I presume this test would disclose that anomaly.

So now, very happily, we await next week's outing to give blood from the hubby, me and C. And Murphy, I hope your re-write is on the way.

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