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lacyndarella
06-01-2008, 12:40 PM
Today, 09:16 AM
colin 1974
New Community Member Join Date: May 2008
Posts: 2

anybody out there

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Hi my daughter Georgia has been diagnosed with a mutated scn1a gen.She has been suffering from seizures since she was 4 months old.Her first episode was 5 hours after her Diphtheria,tetanus,whooping cough,polio hib and meningitis,she had already recieved these at 2months and 3 months.The first seizure was dismissed as a febrile fit and put down to her being hot although this was not the case,the next episode came a few days later which prompted our consultant to place her in epillim.This medication calmed her down for about 6 weeks then they became more frequent and she was placed on carbamazipine (the fit maker as i call it),this changed her seizures dramatically from one or two a week to 7-10 a day and this turned her blue from lack of oxygen and about 7-8 mins long.Since then she has had pyridoxine,lamotrigine,topirimate ,keppra and now they want to try her on stiripentol yet they seem to lack any information on this drug as its unlicensed in the uk.She used to say "dad" and" bob" and what sounded" like here you go" and "tickle under there" now even that has stopped it is almost as if she is regressing.I would like to talk to other parents who are in the same boat and to share information.


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#76 Today, 11:39 AM
lacyndarella
Distinguished Community Member Join Date: Nov 2006
Location: Sterling IL
Posts: 1,795



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Colin,

Jimmie has continued to develop (if slowly - very slowly) despite the seizures. If we could get them under control, I think he would take off developmentally. So we keep trying. We have never had control of his seizures except for the first two weeks after starting topamax and b6 when he was 4 1/2 months old. Then the seizures came back. We have tried ACTH (the seizures got worse), topamax, keppra, depakote, zonegran, and any number of combinations of the drugs listed. I like the keppra. He seems to develop more when taking keppra. He seems to be more cognitively there, even if it doesn't really stop the seizures (at least the ones we can see - it's obviously stopping something for his cognition to improve so vastly when he's on it). He had his first seizures after his 4 month vaccines...but I believe that is coincidental. I did slow down his vaccination schedule after that because I don't think he needs that many shots in a given day...no more than one shot a day. I'll take him back a week later for the next one. I don't care if it takes more time and trouble. He is twenty three months old and still non-verbal and has not yet learned to stand independently, although he is pulling up on everything he can now. He started crawling at 13 months. He has started to sign (all on his own) so I have begun working on that form of communication with him. And we keep trying to find that magic potion of meds that will rid him of the seizures. He is such an angel! Welcome to the board. Hope you find some answers.

Lacy
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Lacy, mother to Jimmie born 6/23/06, diagnosed with Infantile Spasms at 4 1/2 months, progressed to intractible mixed seizure disorder and as of 1/7/2008 showing evolution from infantile spasms to Lennox-Gestaut syndrome with multi-focal IED and slow spike wave discharges on EEG, and wife to David, who saved me from myself! Scared, confused, sad, angry, hopeful, faithful. With God, all things are possible. Find us at www.myspace.com/lacyndarella and Jimme's carepage is found at www.carepages.com, JimmieMathes.

RathyKay
06-02-2008, 12:26 AM
(((Hugs))) and welcome to our forum. When Tom's seizures have gotten out of control, we have seen regression. To be honest, most of the time we haven't noticed the regression until seizure-control has been regained and suddenly Tom's development explodes.

I have to say, from your description I would discontinue vaccinations for good, or at least until you figure things out. If you do decide to vaccinate, I would only do one at a time.

We are diet nuts in my family. Not long after joining BrainTalk, I began reading posts from DogtorJ on the evils of dairy and gluten. I decided to try a dairy-free trial to "prove him wrong" and found out that dairy is Tom's biggest seizure trigger. We weaned Tom off of his seizure meds as a result of going dairy-free. It has not stopped all of his seizures, but it has allowed us to figure out other seizure triggers... in Tom's case, rice, coconut, and garbanzo beans. We gave up gluten (the protein found in wheat, rye and barley - your basic flours in cake, cookies, and breads) on a leap of faith. While gluten does not seem to affect Tom's seizures, it does interfere with his fine motor skills, vision and coordination and we've seen cognitive improvements going GF.

Anyway, I just want to throw out diet as another avenue to explore. Side effects are much more pleasant than medicines, if you can figure out the right foods to remove. Good luck and welcome.

jgunder
06-02-2008, 01:36 PM
Thought I'd chime in here too.

Following what Kathy has said, me and my wife noticed certain foods that would cause a grand mal seizure. If Sarah ate a cheerio we knew she would have a seizure.

Her blood work showed abnormal gluten antibody levels. While the biopsy of her gut did not show signs of celiac disease, her bloodwork coupled with the knowledge that she always had a grand mal after eating cereal, caused us to implement a gluten free diet for her.

I don't feel like I can say for any epileptic out there less wheat = less seizures, but I can say that removing gluten from my daughter's diet did seem to reduce the frequency of her grand mal seizures.

Best of luck to you.

Josh

Ladybug
06-03-2008, 11:07 AM
Welcome! We have not yet identified the cause of the encephalopathy, although we are still waiting on the 8 month+ metabolic results for yet another metabolic possibility. The Dr.'s don't think a test exists yet to identify whatever is causing his problem as it doesn't seem to resemble anything they have seen before. We are still pursuing causes and following diet restrictions with the help of a kinesiologist and our own observation. We have endured 5 AEDs with no success and major side effect problems that we are still trying to recover ds from after the neurologists took him off all drugs and even vitamins as he has so many reactions. We have not used the drug you are considering next. Is the scna1 defect straight forward as to treatment? Is there success with AED alone or do any other complimentary treatments help?

cinboggs
06-03-2008, 11:37 PM
Hi and welcome! I just wanted to say that we have removed all gluten, dairy, soy and corn from Lucy's diet, and while her seizures are not completely controlled (weather really affects her and she had a very bad day today), I can say I did see a marked improvement in her overall mood, fine moter skills, gross moter and just her alertness in general. By the way, she still nurses, so they are removed from my diet too! :rolleyes: And her seizures did decrease, it was just not the "magic pill" I thought it might be. But then, I am the eternal optimist...always thinking the next thing we try might just be what Lucy "needs" to get over her hump. Her doctors tell me she may never outgrow her "hump", so....I still continue to fight for her quality of life and freedom from seizures....

I am curious about B6...but I will start another thread about that....By the way, Josh, if you read this, I have not been around for a bit, but I just read your post about your daughter and welcome (belated!). This has become a family for me and I am so happy to have you here with us (well, not happy, but you know what I mean...) I am sorry for what you and your wife are dealing with...my husband and I have gone through similar emotional struggles with Lucy's journey, but that is another topic. Your family will be in our prayers!