My Not So Little Man Has Dravet Syndrome

Little ManWell I can't believe my boy is 20 already. To call him a little man is just rediculous, but I just don't have it in me to change the title. 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. 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 eleven 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 can't achieve the same effect in the wheelchair 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.

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.

May 2010 3 months between the last seizure and the one he experienced on the weekend, at least they are still shortish. His gait (standing and walking posture) is getting much worse and we are now awaiting MAFO's again as his mobility (crawling and standing ability) is being hindered. The knees need to be straightened out some how and hopefully knee splints will help, we are awaiting funding for this. We also sent of our bloods for the Baylor Research Study this morning so hopefully we can assist in some small way to unlocking the mysteries of epilepsy and the Ion Channels.

August 2010 Shorter AFO's are now being used that go just past his ankles. I think these are the best yet. He now stands more and is able to move around freely again (crawling). We have splints for his knees that we are trying to implement, but it requires several hours a day of keeping him immobile in a sitting position with his legs outstretched. When we do implement this treatment we do see improvement in his posture, but it's just finding the time to do it and he absolutely hates it. Seizure control is reasonable if you don't include the last two nights where he had 4 seizures in total. Increasing the Topamax again by just 25mg in June has meant we had three months siezure freedom prior to this. Although development remains slow his sense of humor is outstanding and he quite obviously still gets a lot of joy out of life.

September 2011 Just added another 25mg of Tomamax to his anti-epileptic coctail with the hope of improving seizure gaps which are now weekly/fortnightly. During the year Jarod underwent treatment for his ankles as they where getting a little stiff. His ankles where put in plaster for 4 weeks with quick results but it did mean as he lost his ability to move freely during this time his mobility has suffered and even walking, even though assisted is a difficulty now. The inflexibility in Jarods knees continues to be a hinderence and although we could plaster his knees or use surgery as a treatment option I fear this will put an end to what little mobility he has left, so instead we wait and see. Vitamin D has also been found to be lacking so now we supplement his diet with Vitamin D & Calcium tablets.

September 2012 This year brings high school. He loves it! We love it! The school he attends have a wonderful array of people to care for his education and wellbeing. They are all so relaxed and approachable, a joy to work with. I was feeling that we were losing Jarod's mobility beyond repair earlier in the year with his knees becoming less flexible and his lack of interest in walking until we trialled another walker. Another gait walker and he loved it. Jarod made the most of the time he had with his beloved walker until he had to give it back. School tell me he's missing it. We saw huge improvements in his flexibility and mobility during this short time. Now it's the waiting game for funding and provision of the new walker. They say it won't be too long. I hope they are right. Jarod's back on the Vitamin D tablets, but no other changes to the drug regime: 900mg Epilim, 6 drops Clonazepam and 100mg Topamax daily. The great news is we have achieved 168 seizure free days. Way to go Jarod! I won't think about the seizures he may have had that we didn't see.

July 2016 As we are coming closer to the end of another era in Jarod's life, and broaching on the new, I find myself once again a little scared about what the future brings. He’ll be 18 shortly, meaning at the end of the year he will finish school and embark on the adult world. We need to make decisions about day options (what he'll do during his days) and potentially look at some sort of permanent residents, which leaves me with a feeling of panic. It has to happen one day, but I'm not ready yet. We also see the end of our partnership with Novita Children's Services and our return to Disability SA. Before we go we'll get a new wheelchair which is a relief and hopefully soon we'll see some signs of the NDIS (National Disability Insurance Scheme) heading our way, which is supposed to kick in this year, I'm not holding my breath. A new respite venue will also need to be sourced where he'll be integrated with adults, we'll all miss his current one. This year also took us to the Spinal clinic as Jarod has significant scoliosis. We've opted to not go down the surgery route as we feel that with the recovery and reduction in spinal flexibility this will take what little mobility he has away from him permanently. I'm almost 100% sure that he'll stop trying. He's already showing reduced inclination to move around. We'll have to address this sooner or later, but it can wait and the doctors agree. Jarod also has issues with his knees as they are unable to stretch out, this has been an ongoing issue for the last few years, but once again the surgery options are tricky, he doesn't understand what is happening, can't understand why he is in pain and the weeks of immobility will likely put him in his wheelchair permanently, so once again we opt to wait and see. Seizure control is poor, but we are having trouble monitoring it as all his seizures are during the night. After struggling for 6 months with an inadequate video monitor, we replaced it yesterday and wake up to 4 seizures recorded during last night alone. It's so scary to think about what we miss. It just goes to show how strong and resilient he actually is.

August 2017 Warning, the latest is a bit dry, but I don't have the energy to sugar coat it. It's been a long year, Jarod's scoliosis has come to the point where surgery is inevitable, we'll be talking to the surgeon in September about this. Day options (essentially day care for adults) started in January and needs some major tweeking, but we hope to find a reasonable compromise soon and are working to have his needs met. Seizures are pretty much the same, just at night, maybe 3 or 4 a week and still short. It took nearly 3 years to see the adult neurologist but that finally happened in March and it should be clear sailing from here with the expectation to see her every 6 months. We changed to Disability SA Child Services last year and just got moved to adult services in the last week. Another change is scheduled in January with the introduction of NDIS and I guess we'll have to start all over again, but maybe this will be better for us, more flexible they say and more likely to meet our needs. I hope they are right. Essentially it sucks being an adult, but it's probably the change that's the hardest. We both (Jarod and I) hate change.

April 2018 A few things are in progress at the moment, with very little resolved, but we have a direction. Here's some of what's been happening:

  1. Jarod will start a Cannabodoil trial in two days on Tuesday 22nd April, we've got the oil in our hot little hands and are just awaiting a visit to get some blood work done to set up a base level to check against if we have any trouble through the trial. To continue with it's use we'll have to show a 50% reduction in seizures, wish us luck!!!
  2. Scoliosis surgery will likely happen at the end of the year to be within the best outcome window based on his skeletal growth. I'm really worried about this as the risks are high for him, but we can't postpone it any longer with jeopardising his health in the long term.
  3. This year we've been adding more swimming to Jarod's schedule, it's nice to see his once wasting muscles get a little tone to them.
  4. Jarod discontinued last year’s day options program in November 2017 and started with a new program provider in January 2018. The up side is that his mood has substantially improved and we've been able to obtain 1:1 care for him which seems to be helping in a variety of ways. Other advantages: he can have time out of his chair, he gets more physical activities in general and he seems to like attending, which I can't say was the case with the last program. He's currently going to Community Living Australia.
  5. Behaviour is a little out of control hence the 1:1 at day options, but we are working through the issues. Hopefully the drug change will also assist. The behaviour issues include: planking during wheelchair transfers, melt downs, yelling/growling, kicking and not wanting to stay in bed etc. Not nice, but not all the time either.
  6. NDIS (National Disability Insurance Scheme) planning meeting has occurred, it just took 4 hours to achieve. Yes, he's complicated, but to the LACs credit she didn't reschedule. Now we cross our fingers and hope that the plan and funding live up to our needs.
  7. Epilim drug increase earlier in the year hasn't really shown any marked improvement or decline, but hopefully with the introduction of Cannabidiol we'll be able to reduce some of his other drugs.


I will try my utmost to keep you up to date on his progress.