I’m Scott, I live in Sheffield with my wife Sarah and our children Thomas (4) and Poppy (2). Thomas was born in May 2008 and all seemed fine until at about 10 weeks old when Sarah started to notice him making strange arm movements as though he was punching his head.
We now know these were his first partial seizures. He had his first tonic clonic seizure at three months old, he was rushed to hospital but all tests came back clear. We were initially told it was probably a one-off, but after the seizures continued he was diagnosed with epilepsy at 4 months old.
Over the next few months his seizures evolved and we worked through more and more drugs which failed to control them. He had generalised tonic clonic seizures, atypical absences with eye twitching and very frequent myoclonic jerks. We noticed that seizures were triggered by a very mild increase in his temperature which in most children would go unnoticed, and anything else that made him uncomfortable such as hunger, thirst and teething.
The myoclonic seizures impacted the most on all our daily lives as he would have them every few seconds of everyday. They made him jerk forward with great force which resulted in frequent injuries to his head, face and nose from crashing into toys and tables. He was also unable to walk unaided as a jerk would make him crash to the ground. Baths and hot food were also dangerous to him.
After multiple tests including MRI scans and a lumbar puncture, his neurologist at Great Ormond Street finally tested him for the SCN1a mutation, which came back positive and he was diagnosed with Dravet syndrome.
"Over the next few months his seizures evolved and we worked through more and more drugs which failed to control them"
Stiripentol was added to his sodium valproate when he was two years old without obvious benefit. When clobazam was added to these to boost him through chicken pox, the myoclonic jerks improved dramatically. We informed the neurologist we were sticking with these “magic 3” as the improvement in Thomas’ quality of life (and our own) was amazing.
He was still having a tonic clonic seizure every week or two, eye myoclonics (we call them blinking seizures) and eye rolling every day. Fortunately Thomas’ tonic clonic seizures have been self-limiting for a few years now and only last a couple of minutes.
As Thomas has got older it has become more evident that his behaviour and social interaction was not the same as his peers. He started to demonstrate self-injurious behaviours with frequent head banging and has no awareness of danger, climbing on anything he can. It was no surprise to us when he was recently also diagnosed with Autism Spectrum Disorder.
Thomas started mainstream school in September 2012 and has a dedicated teaching assistant to support him and keep him safe. His development is not the same as his peers but he has ongoing input from speech and language, physiotherapy and occupational therapy. Thomas loves school and appears to be well liked by the children in his class – especially the girls!!
After recently moving to Sheffield, we managed to get Thomas on the ketogenic diet. In the first eight weeks so far, he has had no tonic clonic seizures and a definite improvement in his blinking seizures and eye rolling. He even seems to be concentrating for longer at school!