While the discovery of a genetic mutation in your child surely sounds disastrous, for us, it was strangely, welcome news.
That's because our Haya's mutation was found to be de novo; in other words, it wasn't hereditary. My husband and I didn't give it to her - and we didn't pass it to our other children.
That knowledge, which came to us only a few years ago, was a huge relief for us all.
Naturally our children's pregnancies still generate the worry that pregnancies tend to. But we are largely exempted from the additional fear that a baby might have Haya's syndrome.
But like most other SCN2A families, we hope for a cure. Or at least more targeted treatments for people with this mutation.
We are tired of piling on meds that may or not help, of groping in the dark. We wish Haya's current neurologists were not as baffled and stumped as those we consulted over two decades ago.
Here's hoping progress in the SCN2A world will be made while Haya can still benefit from it.
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