How about some focus on SCN2A?

Image Source: PBS

Sadly, my daughter Haya's life hasn't been altered much by the Covid-19 restrictions. The parameters of her existence were extremely limited at the best of times. One exception was that weekly hour of hydrotherapy we used to give her at our local pool.

She is a superb back-floater, believe it or not. At least she was pre-Covid - and looked utterly relaxed throughout the session. She even smiled occasionally - her tiny tongue-poking-out sort of smile.

But it feels as though that happened in a previous incarnation. 

Now her only exercise is the 45 minutes of assisted walking I do with her religiously every night. I'm certain it benefits her too in myriad ways: respiratorily, cognitively, digestively. But it can't hold a candle to that water therapy. 

The pools are slated to reopen right after Shavuot. But I'm wary of bringing Haya back even then. While I haven't asked her doctors, I'd presume her genetic mutation and complex disabilities place her at high risk.

Speaking of genes, I just watched a magnificent 2020 PBS documentary, The Gene: An Intimate History which provided a history of the field and profiled several genetic breakthroughs that have transformed lives. 

It was both uplifting and depressing. The uplifting part I'm sure needs no explanation. But here's why it depressed me.  It highlighted the sad fact that Haya's mutation - SCN2A - has not benefitted from all those genetic advances.

From the series' website

I suppose the sparsity of her population is a crucial factor. There are under 1,000 documented SCN2a cases globally; Only 140 cases of the epileptic sort are born per 100,000 births. (There are additional cases where autism and intellectual disability are the symptoms.) Those numbers translate into minor financial incentive to pursue a treatment.

But the film relates the development of an astoundingly effective treatment for SMA, Spinal Muscular Atrophy, a genetic condition with about the same incidentce. 

Which begs the question of why SCN2A has been ignored.