Living with Dravet Syndrome
By Marie Baker

Aimee, was born in September 2005 and for the first few months of her life appeared completely normal, however, this all changed just before she was 4 months old when she had the first of what would be many, many seizures. This particular seizure lasted 45 minutes and resulted in her being intubated and retrieved by Guys and St Thomas’s paediatric paramedics. We were blue-lighted to the Evelina Children’s Hospital in London and Aimee spent 2 days in Paediatric Intensive Care where she had a CT scan, EEG, MRI, lumber puncture and various blood tests. Everything came back clear and after spending a few days on the neurological ward we went home hoping that it was just one of those things and it would never happen again. She was put on the anti-epileptic drug, Phenytoin, but it was explained to us that it was quite unusual for babies of Aimee’s age to have epileptic seizures.

Over the next five weeks life went back to normal, although we did notice Aimee ‘twitching’ every so often. She looked just like she was being shocked; her arms would fly out, her head drop and her eyes roll. We would soon learn this was seizure activity known as myoclonic jerks. Then on 23rd February 2006 the seizures started coming thick and fast. We had been given rectal diazepam to administer as soon as a seizure began and had been instructed to dial 999. The seizures always went into status, meaning they simply last too long. She was averaging 2-3, 45 minute seizures a week and after a few weeks the diazepam ceased to be effective. More tests were carried out but no answers found.

We then started to do our own research and I began trawling through various epilepsy websites. I came across a young boy in Australia whose story was identical to Aimee’s. He had been diagnosed with a very rare and life-limiting form of epilepsy called Dravet Syndrome, previously known as Severe Myoclonic Epilepsy in Infancy. We requested the genetic testing, which Aimee was eligible for, as clinically she fit the diagnosis. 5 weeks later a positive result came back.

Having a diagnosis made a huge difference to Aimee’s care as Phenytoin, the drug she was still taking, is often shown to have negative results for children with Dravet Syndrome. The diagnosis has also enabled us to access appropriate therapy and services for Aimee.

Aimee is now on a number on anti-epileptic medications, which control the seizures to a degree. Unfortunately as a result of the various side effects of these drugs Aimee is now 100% tube fed. At almost 5 years old Aimee has no speech, yet can sign around 30 words and although she did learn to walk for a brief time, has since regressed and is no longer walking. When she has a big seizure it is not uncommon to see some form of regression in Aimee. As well as being diagnosed with Dravet Syndrome Aimee has a diagnosis of ASD and a moderate to severe learning disability. Aimee’s care is shared between our local hospital and Evelina Children’s Hospital in London.

Even with all the difficulties that face Aimee, she is one of the happiest children you could ever wish to meet. She loves to colour, go to the park, look at books and she LOVES Mr Tumble and Peppa Pig. She is a wonderful daughter and a brilliant little sister to Katie, who just loves her to bits.

Teddy was born in August 2003 with the cord wrapped tightly around his neck twice. Although he was allowed home after two days, he was readmitted to hospital at 4 days old since he was unable to suck and very jaundiced. After a week of IV feeding, he was sent home, feeding a little and we hoped to put hospital visits behind us. At 7 months old, Teddy had a febrile seizure lasting around 40 minutes in total where he went very grey and stiff and stopped breathing. We called 999 and for the first of many times we were rushed into paediatric ICU and a whole barrage of tests were carried out, all showing nothing. After 5 days of IV antibiotics we were allowed home. Over the next two years, every slight fever landed us back in hospital, often with clusters of seizures until the underlying illness had passed. An MRI came back normal, but EEG tests showed epileptic activity and Teddy was started on Epilim.

At the age of 3, Teddy was diagnosed with Autism, his development was delayed and he had begun to attend a special needs nursery. He was non verbal and had a reduced awareness of the world around him. He seemed very sleepy most of time and so Epilim was swapped to Carbamazepine. Genetics tests had all come back negative and we had no real idea what Teddy’s diagnosis was.

Not long after, around the Christmas time when Teddy was 3, I noticed his first absence seizures. Teddy would be playing one of his favourite toys, a drum and suddenly just stop as if someone had switched him off. A minute or so later, he would just pick up where he left off as if nothing had happened. Also, we began to notice twitches in his arms, like he had a sudden electric shock. The febrile seizures were also continuing and in fact Teddy had never had a simple fever without a long febrile convulsion and a trip in an ambulance. Deeply worried, I took Teddy into hospital and demanded an emergency EEG. The results of this were worrying and Lennox Gastaut was mentioned to me.

A few weeks later (once the neurologist was back from holiday!) the Carbamazepine was weaned (it being a definite ‘no’ for Dravet children), Epilim reinstated and an appointment set up to review the situation. In May 2006, Dravet syndrome was diagnosed on clinical presentation and the relevant tests sent off to hopefully confirm this.

As soon as Dravet was diagnosed, we began to research the condition and found the IDEA League. By August of the same year we found ourselves in Euro-Disney meeting other families and Dr Dravet herself. Since then, we have taken part in many Idea League events learning from other families all the time. Teddy has tried various combinations of drugs and also the ketogenic diet.

A year ago, at the age of 5, Teddy had a Vagal Nerve Stimulator fitted, and it has been this which has seen the biggest reduction in seizures. He has gone from 60 to 70 seizures per month down to hardly any at all. He also follows a Modified Atkins diet and takes Keppra and Septrin. His SCN1A test came back negative and so his diagnosis of Dravet remains clinical.

Teddy can walk but is non verbal and has significant sensory processing issues. He requires full help with everything and attends a special needs school. His autistic behaviour and sensory issues have actually taken over from seizures as our biggest challenge, something that I would have found hard to imagine only a year ago.

His quality of life is better than ever and he is a happy, well little boy at present. Through the IDEA League I have met many other families and received invaluable support, long may it continue!!!!