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Frimet Roth's avatar

Two years ago we finally got that "more info" on our 26 year old, Haya. Until then it wasn't covered by our health fund. While there is no targeted medicine for this syndrome and the finding didn't affect our or the doctors' treatment choices, it was great to just know: It's a de novo mutation on gene SCN2A. That means it's not hereditary!!! Our other children don't need to worry about passing it to their offspring. It also gave us entry to a new club: The support group of nearly 700 other families in the world with children found to have this mutation. I really wish you the sort of "more info" that will help cope with Sophie's disabilities. Who knows - she may have a mutation for which there's some sort of treatment out there. (And please, direct me to a diaper seedling, you exes!)

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Antonia Malchik's avatar

That Kuusisto quote. Just, yes. We'd been planning for years to bring my mother-in-law over to live by us so she can be with her only grandchildren as they grow, and be close to her only child. But had to face the reality that the health care she gets in Britain (she was born with a disability, and as she ages it requires more care) is not something we could ever replace here without being extremely wealthy.

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