Tuesday, November 19, 2019

Who knew?

So here I am immersed in researching and coping with Haya's epilepsy but oblivious to an important epilepsy detail: November is Epilepsy Awareness Month!

I just learned that on a visit to the Facebook page of The Families SCN2A Foundation. The page also noted that one-third of all epileptics have refractory seizures.

But while that means that in one sense Haya has plenty of "friends" in the same boat, she is still in a distinct minority.

In 2018, there were only
276 known SCN2A cases identified to date (see Table S1 in the Supplemental Information online)... At present, the number of known SCN2A cases is roughly
equal between IEE [Infantile Epileptic Encephalopathy] and ASD/ID [Autism Spectrum Disorder/Intellectual Disability], likely reflecting differences in the adoption of genetic testing.
[Source: "Progress in Understanding and Treating SCN2A-Mediated Disorders", online here]

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