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*posting for traffic" SCN1A mutation in ds.

3 replies

Justkeepswimminglalala · 27/01/2018 15:54

Ds (8mo) has had 4 prolonged focal seizures and 2 generalised seizures since age 3.5 mo, also one cluster episode of myoclonic jerks lasting approx 10 minutes. Has been on medication and has been seizure free (apart from the one episode of myoclonic jerks) for 6 weeks. We have just found out he has a SCN1A mutation following genetic testing. Does anyone else's children have this? And what has it meant for you? Everything we have read is so scary and can't speak to the consultant about this until monday. But right now all dp and I are doing is worrying about our baby. At present, his development has not been affected and is so far meeting all milestones, he is otherwise perfectly healthy and just amazing!

OP posts:
MikeRafone · 01/04/2025 19:20

are you still on here, looking for others with this gene mutation

Justkeepswimminglalala · 02/04/2025 09:06

Hello, yes I'm still here. 😊

OP posts:
MikeRafone · 02/04/2025 22:29

Thanks for replying, was just looking for any advice or wisdom you might have? If you didn’t mind sharing if course

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