Seven News story on rare seizure disease

Roisin Carbery suffers from a rare genetic disorder which causes her to have multiple seizures a day. Watch this story to learn what Telethon Kids Institute researchers are doing to help kids like Roisin and read more here: telethonkids.or...

[@sylviagerritsen7975]

My daughter is undiagnosed, she is now 37. The seizure you showed in this clip is the same seizure I witnessed in my daughter at 6 weeks old. All other seizures I have seen look different to this one. My daughter still suffers regular seizures and has never been diagnosed, nobody has even tried to help. It is only last week that her doctor has said she believes she should be genetically tested. I’m praying. I hope things are going well for you and your seizures are under control. Best wishes and good luck.

[@kevintwaite2840]

The reason her brothers are unaffected is because this like Rett's Syndrome are mainly a female genetic disorder. This is a variation of Rett's Syndrome. First they might test for autism, which is still not fully conclusive, but as time goes on, the marked differences between autism and CDKL-5 can be seen and testing for Rett's Syndrome is usually the next genetic tests and if that comes back negative, then they search for the Cyclin-Dependent-Kinase-Like 5 marker ~ or in short CDLK-5 which genetically on the map is the Xp 22.13. This can be inherited or a De Novo (which neither parent carries). In some cases, where women who have 2 X chromosomes, one is always inactive ~ so you can carry this condition and not be affected, yet pass it onto your off spring. it isn't something you acquire later it is sitting there in your genetic make up. But like one researcher said about another disorder unrelated to CDLK-5 ~ she said Genetics loads the gun, but what what fires it we just don't know. Hope this helps people understand this condition a little bit more. It is listed in some countries as an "associated autism genetic disorder."

[@BLOGSANDLIFESTYLE]

Roisin went to my high school and she look like fine and happy she become is one my friend

[@xTigerbreadx]

My 3 year old son is now on 3 epilepsy medications and still having seizures every time he sleeps. He got worse after starting sodium valproate where he was clustering in and out of hospital for months and his seizures where starting through the day too when he was awake we added clobazam it helped but not for long then adding Keppra made a huge difference I've not had to touch his midazolam cos his seizures end on there own after about 2 minutes tops and he's having one or two a night instead of it happening almost non stop through the nights, They are doing a more indepth look at his, mine and his dads DNA at the moment, they said all the genetic tests and other tests so far have come back normal so they think its one of the more rare ones apparently they still have my blood on record from when I was pregnant which I didn't know so they just need his dads now, he is also part of the RESCEU study that I signed him up for still high from the C-section I was put to sleep for, apparently you qualify for it if your baby was born with raspatory issues but apparently he was fine and had no issues at birth according to the midwife, I also saw his Newborn Apgar score was 5 at birth and 10 minutes after so I feel something doesn't add up, I hope we get answers soon.