Here are some suggested organisations that offer expert advice on SN.
Child with SCN1A mutation, possible dravet syndrome(7 Posts)
Does anyone else's child have epilepsy with an SCN1A mutation? We have been told our son may have dravet syndrome but has not been diagnosed at this point. He is 8 months old and started having status seizures at 3 months. Just wondering if anyone has a child with a mutation in this gene and/or dravet syndrome, and how your child is doing? Everything I've found online is worrying and leaving us hopeless. 😢
Have you tried calling an epilepsy charity or contact a family? They can sometimes put you in touch with others in a similar position
My dn had epilepsy but she doesn’t have the same type - I know how important it it to have the right info.
Try contacting "Matthews Friends", a charity for parents of children on the ketogenic diet. I am not sure at what age, children can go on the ketogenic diet, but from what I have heard, it can work for children with Dravet syndrome and some may have a reduction in seizures or achieve seizure freedom? Anyway, it is worth a try, when DC is old enough? (We have tried it on DD, although she has Lennox Gastaut syndrome, not Dravet)
Young Epilepsy runs a helpline for parents, as does Epilepsy Action. The Epilepsy Society has a useful website with research updates on it, etc.
I am not sure what is the lower age limit, but look into applying for Disability Living Allowance. Cerebra has an excellent guide on how to fill in the forms. (You do need help with the forms!)
Has the hospital given you "open access"? Nobody told us about it for years, but it means you can take DC straight to the paediatric assessment unit, if you are worried about seizures, rather than having to go via A & E - so long as they have an empty bed. If paediatrics are full, you may have to wait for upto 4 hours in A and E, but it's worth asking first?
Yes my dn has open access - really helps
Thank you both for the advice. I didn't think anyone would reply 🙈 How would I find out if our son has open access? I know on discharge from hospital they have said a few times we have open access, but just assumed that is for the standard 48 hours following discharge. Are you's aware of any epilepsy forums? Mumsnet is great but It's difficult to get replies on here. I really appreciate you both taking the time to respond. This has been a difficult few months!
No, once you have open access, it's indefinite, afaik!
Matthews Friends used to have an epilepsy forum, but the website has been redesigned and I can't find it now. However, if you speak to Emma (Matthew's mum who set it up), she might be able to tell you where it is!
Iirc, Matthew has Dravet syndrome.
Not Dravet syndrome here but dd had similar hard to control seizures under 1 (and for many years). Definitely ask for open access and we had a letter to wave at A and E so we got wafted straight through to resus. There are 4 or 5 posters here with children with zappy epilepsy. Do you have a night time monitor? If not your consultant can refer you to the Muir-Maxwell trust, or that was how it worked when dd was little.
Our early years were very hard and I’m so sorry this is happening to you all. Mathew Friends used to be very kind and helpful. Young Epilepsy used to have a nurse you could call who would explain the ins and outs of things. We found Topamax after about 8 different drugs, and then when dd was a bit older the fabulous Keppra. We are in a peaceful bit at the moment but have had similar pauses and then horror again, so I am waiting. . It’s a horrible worry. I try not to think about it but it is always there.
Join the discussion
Already registered? Log in with:
Please login first.