My Little Man Has Dravet Syndrome
Well I
can't believe my boy is 11 already. Where
did the time go? I had such high
hopes for him in the early days, he showed
so much promise, he still does but my expectations have changed somewhat over time. At 7 months of age he said "birthday" as
clear as a bell. I promise! I
even had 3 adult witnesses that nearly
fell over when they heard it. Maybe
this one was going to be gifted I thought. Well
maybe that was a little far fetched but
how unusual I thought. At 4 months
of age he had his first of many seizures. We
spent a lot of time in the hospital that
first year and second. Even now we don't have complete control
of his seizures. I suspect he has
many during the night as you can see when
he naps on the lounge during the day that
he twitches constantly (there called myoclonic
seizures), he also has tonic/clonic, absent
and complex partial seizures, actually
there isn't many types he hasn't experienced.
My little man grew well his first year and to the doctors amazement developed at a normal rate. But at around 12 months he stagnated with his development. At eighteen months he was still pulling himself up and walking around the furniture but was unable to make that next step to toddler hood and ten years down the track we are still battling the same demons. At about the 18 month mark our concerns for his development were taken seriously finally ! He was accepted by the Intellectual Disabilities Services Council (now called Disability SA) to receive in home services such as speech therapy, physiotherapy and occupational therapy. It was then that we were told he had ataxic cerebral palsy by the physiotherapist. My understanding of this terminology is that he has a combination of high and low muscle tone which means his brain cant make up it's mind how tense or lose his muscles should be and this gives him a constant wobble.
Prior to this I had taken things into my own hands and found a sensational program called EDP - Early Development Program for children with disabilities or developmental delay and their families. Don't forget to go to the EDP site so I can tell you more via here .
My boy has a very contagious laugh, his smile is bright and he collects admirers everywhere he goes. He loves the water and cant get enough even if that means putting his hands in the toilet. Well we all have faults don't we. Oh but does he have a temper. When he wants something well lets just say there is nothing wrong with his vocals, although the thing that really stands out is the way he will throw himself on the floor kicking and screaming. I suppose I should be grateful he only does it when he is mobile like at home and cant achieve the same effect in the pusher when we are in the shops. Hey there is something to look forward to.
He loves to: watch videos especially music (Wiggles, Hi-5) play outside climb and get into the most awkward spaces pull his sisters hair pull every one's hair have a cuddle especially with his mum and getting wet.
He is still unable to walk unaided but who knows at this stage there is still lots of hope. But if you could see him crawl WOW! What a pace. He can really get going. Especially when you want him to do something and he has other ideas. His vocabulary has dropped from a half dozen words to one "MORE". This changes periodically.
The transition to the Crippled Children's Association in 2002 (Now called Novita) ran very smoothly. I am over impressed with the sheer amount of assistance we are getting. From equipment to very frequent visits by therapists. He has started using an alphatalker speaking device outlined here . A wheelchair has arrived outlined here and he is dabbling with a walker with little success. I have noticed small changes. He is using both hands more, he is more alert, I think largely due to adding Lamotragine to his anti-epileptic medication a couple of months ago. Still his progress is very slow going but it is happening!
October 2002 - He is mimicking people verbally so much more then he has in the past. We received a new set of AFO's (foot inserts) today, I hope this will help with his stability, when trying to walk. He is into absolutely everything at the moment, nothing is safe. He is getting into the cupboards constantly and you can't get anything out of his reach as he is far too tall for his own good! Full time Kindy starts next week, Ahhh! I will get a bit more of a break hopefully.
December 2002 - Well that break was short lived now I have 6 weeks of school holidays to contend with. Oh well at least I can sleep in now with no kindy and school runs to contend with. His AFO's (shoe inserts) weren't exactly the miracle we had hoped for but he is certainly a little more stable with them. The miracle I guess is just going to take a lot more work. Anyway I hope everyone had a great Christmas and has a sensational New Year.
April 2003 - We are looking forward to him attending school in fourth term this year when he turns 5. At least he can become more settled knowing he will be there for a longer term unlike kindy being only 18 months or so. He has had a few hospital stays this year. Seizure control seems a little difficult to obtain. We have started him on another drug that seems to be helping (Clonazepam). Let's cross our fingers.
November 2003 - We now have a diagnosis of SMEI (Severe Myoclonic Epilepsy of Infancy), also called Dravet Syndrome. This explains both the severity of his seizures, the inability to get the seizures under control with medication and his developmental issues. This also means we have more information on his condition and some guidelines as to what treatments might give us better control of his epilepsy. More information is available on Dravet Syndrome Here . He loved his first term of school.
January 2004 - The diagnosis of Dravet Syndrome has meant we have needed to discontinue the Lamotragine that is possibly aggravating his condition. We are now starting Topamax. The problem is that he hates medication changes and true to form has fallen apart. Spending another night in hospital and experiencing seizure activity on a daily basis. I expect things will get back to normal soon.
April 2004 - Things have certainly calmed down. He is more alert, more able and willing to learn and his seizure activity has reduced back to fortnightly gaps in seizure activity and only a handful of hiccups. This new regime seems promising.
January 2005 - Seizure wise we are getting better results all the time. Now we consistantly have seizure gaps from 6 weeks +. That's no acitivity at all, no myoclonics, no tonic clonics, nothing! I'm pretty chuffed, I don't think we've ever had this sort of control before. I'm just hoping it will last now. I acredit this success to the Topamax introductrion. The other thing that has been altered is he changed from Epilim liquid to crushable tablets. This seems to be improving things also. He continues to learn very slowly. We are also still awaiting genetic testing for ATR-X (Alpha Thalassemia, X-Linked Mental Retardation) from the UK, he has tested positive for Hbh inclusions already so the rest may just be a formality. We also await the SCN1A mutations test (Associated with SMEI) being researched and performed here in Australia. Hopefully we'll know more on both counts within 6 months.
Dec 2005 - No change in seizure activity (so excited!!) and he finally came back with the SCN1A mutation results. Yes he does have the mutation associated with SMEI. The ATR-X results are still pending.
March 2007 - Where has the time gone, I can't believe I haven't updates this section in so long, although I guess that's because not so much has changed. Seizures remain about the same (we see a seizure every 2 to 4 months), these seizures are usually tonic clonic or similar and always in the wee hours of the morning (around 4am), so we are likely missing a few. These are thankfully also short, only a couple of minutes. Development remains slow and steady, but I would still suggest his developmental age is less than 18 months. He talks more, with about 20 or so meaningful words and has some rather sweet conversation dialogues I.e. (" Hello", "How are You?", "Alright!"). He'll either ask or answer. He's 8 now, and is just as happy and mischevious as ever.
November 2007 - He's 9 now and totally adorable. He's getting more and more mischevious and likes nothing better then to argue with his teachers and parents. Especially when it comes to getting into his wheelchair. He's not a happy camper in his wheelchair. His last recorded seizure was in April, seven months ago. Is that even possible? Wow! A bit of a shock to me as well. Knocking on wood, I hope it continues. I'm not nieve enough to think there's been no seizures at all, just none that I've seen. Developmentally he still plods along at a similar developmental level as before, so not much to tell there, but he's happy within himself I think and despite the tantrums is pretty happy with his lot in life.
August 2008 Still seizure free (about 16 months) fantastic hey! Development is also about the same (15 months or so). His drugs doses are Epilim 400/500mg, Topamax 0/100mg (was 50/100 when seizure free period started), Clonazepam .3/.3mg.
October 2008 Still seizure free (WOW!) Drug doses have been changing slightly with the reduction of Topamax to encourage his apetite. Doses are Epilim 400/500, Topamax 0/75, Clonazepam .3/.3mg.
December 2008 The drought has broken a few times now but I have hopes that things will get back to normal once Jarod's anti-epilepsy drugs stabilize in his system. Doses are now Epilim 400/500, Topamax 0/50, Clonazepam .3/.3mg. He's also talking more but his walking gait is getting progressively worse and he's finding it harder to keep stability. Just to clarify he's never walked entirely independently.
July 2009 Although the seizures are back, the gap is getting bigger again between episodes, despite keeping the drugs at the reduced dosages. The space between seizures are 1-3 months apart. I'm happy! and I feel confident the gaps will continue to get bigger again.
February 2010 Seizures arrive roughly once a month, but our biggest concern is his gait (the way he stands and walks). His knees don't straighten properly any more and Jarods feet deformities (turning in) where a little more prominant prior to treatment. We've been seeing a rehabilitation specialist who is doing further investigations and implementing treatments to see if we can get some improvement in this area. Two weeks of plastering his ankles/lower leg to losen up his ankles and improve alignment worked really well and quickly (this should have taken six weeks). We are awaiting a device to aid with stretching the tendons behind his knees and hopefully that will also free him up a little. We've also been using knee high AFO's for better stability and although they work great with aligning his feet and stabilising his walking, they unfortunately play havoc when he is crawling around, but at present it's a reasonable trade off. We've also seen a bone specialist about potential problems with hip placemnt. There is an issue, but only minor and for now no treatment is necessary. The endocrynoligist next who is looking into bone density and gave some advice on how to improve this without medical treatment. On an up note Jarod's been speaking a lot more and now recognises and says the number 4 and 8 when he sees it on paper, so we can proudly anounce that Jarod's started reading. He's also made huge progress with the number of symbols and layers he uses with his Macaw (AAC device) so huge improvements there and there's talk of providing him with a more complex communication device to go with his ever improving communication skills.
I will try my utmost to keep you up to date on his progress.