#57: I Am Qualified To Write About Neurogeneticsses?

Our Henry has been diagnosed with a vanishingly rare (1 in 91,000) genetic mutation in one particular gene that plays a role in the release of neurotransmitters so that the brain cells can talk good to each other.

Because it's so rare, there is a wonderful effort afoot to bring together families affected by this. Not only is it rare, but it's only barely beginning to be studied and understood. The first indication of this mutation was discovered only in 2008 and the field has been finding its way along the bleeding edge of genetics and neurology since then. It's barely an exaggeration to say that every new case is in some ways unprecedented.

For example, Henry's particular mutation of this gene? Yeah, basically unique to him. Not seen before, not documented in the literature. And this is not unusual.

(As an aside, we've grown accustomed to this kind of thing. He was diagnosed with one of the rarest types of epilepsy. We treated it for a while with a rarely used orphan-drug hormone therapy that cost so much that the contents of our fridge at one point could have been valued at $60,000, not counting the mayonnaise. He's got the less-common variety of cerebral palsy, and his one-man-band array of diagnoses adds up to one Special Boy.)

Anyway, all of this is to say that some good souls we're in touch with on a Facebook group for families of kids with this kind of mutation are working on a website to explain this to the world and help other families learn more as they come into the fold. It's early days but you can find it here.

I have volunteered my abilities in writing and editing copy if they need me. One of the first things I was asked to do was try and revise the "About" page to flesh out and make the science talk understandable to laymen. Now, I am not necessarily a science talker. But I can grasp at it OK, and I am used to studying, digesting, and then explaining technical or esoteric concepts to laymen because that's what I do all damned day.

So I've jumped right in. I like my first draft but it's not up to me what ends up seeing the light of day. Still, I think this will be another great way to keep my mind, you know, uh, limber...while also wrapping my brain around Henry's diagnosis and helping others wrap their brains around theirs. We'll stay tuned on this one.