Dravet's Syndrome - a rare severe form of epilepsy

Kim - posted on 07/06/2009 ( 5 moms have responded )

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Hi everyone,



Sometimes it helps just to share your story...sometimes it helps the story tellers and sometimes it helps out others out there reading your story, and it sometimes helps lead them to some answers. In any event, it just helps to know you are not alone and that others share your same experiences each and every day.



My son Logan was diagnosed with epilepsy at 15 months old when he had his first 2 seizures in less than 24 hours. They were convulsive seizures, just on his right side. Over the next few months, during illnesses, he had a few more seizures. Then he stopped having the convulsive seizures for around 5 months, but in the that time, he started having about 50 absence seizures a day (staring, eyebrows moving quickly up and down). By his 2nd birthday, he was back to having convulsive, full body seizures about once a month, along with his 50 absence seizures a day. Over the next several months, we tried different medications, none that worked, and he started preschool for kids with special needs just after his 3rd birthday. Logan was showing signs of a severe speech and learning delay. Around this time, we tried a new medication called Zarontin and that controlled (and still does!) his absence seizures! At his 3 and a half year old mark, Logan was called in by his neurology team to have some blood work done. We had been complaining for months that he didn't "just" have "epilepsy" -- there was more to it. He had ADD-like and autistic-like behaviours, not to mention behaviour problems, and we just weren't sure if it was medication related or seizure activity making him this way. Anyways, then the neuorologist called in my husband and I for blood work. They came back earlier this year with a new diagnosis. Logan has a rare severe form of epilepsy called Dravet's Syndrome. It is caused by a gene mutation (SCN1A) that did not come from neither his dad's nor my side of the family so it must have happened spontatneously after conception they believe. Luck of the draw. There are less than 500 documented cases world-wide from what we have been told. And all of these "symptoms" we had been complaining of...the ADD, autism, behaviour issues, etc were now explained, as this can be all a part of having Dravet's Syndrome. So, Logan will celebrate his 4th birthday in a couple of weeks, on July 20th, and we are thankful each and every day that we have him with us. Several of these children are dying for various reasons (bad prolonged seizures, drowning, SUDEP, etc) so each day I try to just hang on tight to Logan and be thankful that I still have him in my life. I also have a 2 year old daughter who is my shining star and who is "typically developing" so far, from what we can tell! It's nice to have a "normal" parenting experience with one of my children...I am grateful for that.

Anyways, it sometimes helps to just share...

Thanks for listening!



Kim

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5 Comments

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Fatima - posted on 05/29/2013

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Hi my daughter Zairee also start haveing seizures went she was three month old I got very scared and went to ER doctor did many test and said that she had a height fever then I was takeing her bath and she would start haveing seizure . She been in lot of different medication but did not work. Three years ago they did other test and they fine out she has dravet syndrome . It's been very hard for me and my husband she is the love of my life . Right know Zairee is going to be seven years old she don't speak good and she is delay

Christa - posted on 07/20/2009

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I have not heard of IDEA LEAGUE. What is it? I would be interested in joining your group if you start one.

Janessa - posted on 07/16/2009

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Hello Kim,thanks for sharing your story. I am very sorry to hear that your son Logan has been diagnosed with Dravet Syndrome. My daughter is 8 and we finally got our diagnosis in October this past year,7 years of wondering and trying to figure out why she had seizures and all the other issues that come with having Dravet Syndrome. Life has been and is still very challenging.Like you i am thankful for every day Jacqueline is here. She had her first seizure when she was around 3months old and it has been a journey ever since. I was wondering if you and the other mothers who posted their story have heard of the IDEA LEAGUE and their family support network.Also i was thinking about starting a circle of mom's group for Moms with children who have Dravet Syndrome.Any intrest?Take Care!

Christa - posted on 07/15/2009

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Hi Kim, My daughter Caitlin has also been diagnosed with Dravet Syndrome. She started seizing at 2 months old. She started with just a few and they started getting worse and longer and more often. We started seeing a neuro Dr locally then were refered to a nuero Dr in a childrens hospital. We spwnt 5 weeks in the hospital with her trying to figure out a right combo of meds to control her seizures she would have about 65 to 70 a day. Finally got some control and her lliver test started to come back abnormal haad to go back to hospital for two more weeks to take her off the meds that could harm her liver and try new meds. We fianlly got a diagnosis of Dravet Syndrome almost a year later. She is now on a combo of meds and also does the keto diet. She is severely delayed she can not walk or talk and she is tube fed. She does speech physical and occupational therapy each once a week. She still has about one seizure a day most days. Longest ever gone with out siezure is 9 days. I also have a four year old son who is just fine. Really makes you grateful for everything. thanks for the post always great to share stories and read peoples stories.

Christa

Samantha - posted on 07/06/2009

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Hi Kim, thank you so much for your post! I just worked out today that SCN1A is Dravets Syndrome! My daughter is in the process of being tested for this, but the neuros have never called it Dravets and the research i was doing didnt get me anywhere useful! We have been waiting for almost 8 months now (the doc apparently didnt send it off the first time and it takes 4 months for the results!)

Anyways, Bronte had her first seizure at 18mo, no temp, but in a hot car, full convulsive mostly on her right side, with post-ictal weakness on that side. Spent about a month all up in hosp, trying to get the meds right, we then had 18mo seizure free! Then breakthrus seizures happened, and we tweaked her meds here and there.For the last 8 months she had been having at least one seizure a day, normally at night, and they have been slowly increasing up to 5-6 night or day. We have tried several combinations of meds, we are on Epilim (sodium Valproate) Topamax (topiramate) and Clobazam, we upped the dose 10 days ago and she has totally stopped (for the mo, fingers crossed, for while!)

Bronte is delayed in all areas, she is 6 but functions at about 2-3yo level. Crazy speech -has her own language i am sure - has a large vocab, but uses mostly only single words , cant repeat a three word sentence back to me but will sometimes come out with a good one of her own!

Behaviorally she can be difficult, especially if we have to wait for anything, doesnt comprehend turn taking etc or waiting for her hot chips to be cooked!! Impulsive, no stranger danger, runs, very hard to discipline, its like she just doesnt care or understand , ignores or disobeys often, and does a great drop-to-the-floor-I-dont-wanna-do-that!! She has the attention span of a grasshopper and a few sensory regulation issues that we are working on in her support unit class in a mainstream school.

On the plus side, she is a very very affectionate, happy, cheeky monkey who loves cuddles and squishing and her big sis who is very bright.

There are many challenges in life, and if it wasnt this it would be something else I'm sure!

Thanks again for posting this thread, i would love to know more about Logans challenges and behavior to see if there are similarities, i am quite excited about finally (maybe!) getting a diagnosis! Drop me a line sometime!