Life with the SCN2A mutation

Image Source: Extracted from
this brochure

We had barely adjusted to the new reality of a firm diagnosis for our daughter Haya when the "awareness day" of her syndrome popped up.

February 24th was SCN2A International Awareness Day. I suppose its general significance lies in increased fundraising efforts which will enable new research successes. There still seems to be precious little knowledge about how to treat this horrible condition.

Note: I've seen it called "a catastrophic life-altering diagnosis" and I couldn't agree more.

Haya's refractory epilepsy continues to oppress her and us just as it has since it began 23 years ago.

But having a name for Haya's symptoms has nonetheless brought changes, albeit marginal.

For one, I have less hope that she will ever improve, even minimally.

I mean, for now there's no way to fight those mutated genes inhabiting her body. Perhaps one day medicine will discover some gene- altering treatment. But nobody is talking about anything like that at this stage.

There is, however, a thin silver lining, namely the relief we feel about our other children's genes.

While every one of their previous pregnancies filled me with anxiety, even dread, I'm now a tad more relaxed and stick to the standard pregnancy concerns.

We are still at a loss as to which new drug to try out in our quest for a modicum of relief from Haya's seizures.

The neurologist we thought would help us has gone AWOL and while she is very senior and experienced, she conceded that she has no other SCN2A patients.

Despite a concerted effort, we have failed to locate any parents of SCN2A children here in Israel who might be able to suggest a local doctor familiar with this mutation.

So, if you are in that category or know someone who is, please contact me here or at frimet.roth@gmail.com

Meanwhile, Haya now works with two switches (see image on the right). She decides which hand to use.

A big step forward for her.