We'd barely recovered from all the "excitement" generated by SCN2A Awareness Day ["Life with the SCN2A mutation"] when February 29th rolled along. For those who were unaware of it - and I myself was until my on-line SCN2A support group annouced it - today is Rare Diseases Day.
With some 600 documented cases globally, this syndrome definitely deserves a place in that category. To learn more about life with this diagnosis you can read what I shared here.
And, at the risk of haranguing you, I will, once again, urge anybody in Israel, whose child has this diagnosis to contact me. You can do so here, as a comment below, or via email.
I'm sure that pooling our knowledge and experiences will benefit us all.
In researching this post, I also discovered that Israel has its own Institute for Rare Diseases. I'll be contacting it to find out whether they have any experience treating SCN2A Syndrome.
Hoping that will produce something positive to share here soon.
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