Curtis had his first seizure aged 4 and a half months old. His mum, Emily, tells their story.
Dravet Syndrome is a complex and devastating condition. Living with a child or adult who has Dravet Syndrome can be a very difficult and potentially isolating experience for families. There is urgent need for research into the areas that matter most to families – the complexities of the condition, the broader impacts, and how to improve long-term outcomes.
Funds raised from Jeans for Genes Day really make a difference. This year a Jeans for Genes grant will help towards Dravet Syndrome UK creating and launching 15 new local networks across the UK where families can safely gather and socialise and help many more families affected by this condition.
First Presentation
It was the 7th February 2017, an evening I will never forget. Curtis was 4 and a half months old. We had a lovely day together. I had met up with one of my NCT friends and we had taken our boys for a lovely long walk in their buggy’s. Curtis went to sleep fine that evening and as we went to bed at 11pm I noticed on the baby monitor Curtis looked like he was moving about. I alerted Carl and he said to me don’t worry he is probably just dreaming and to go back to sleep. But something didn’t feel right to me and, despite really not wanting to wake him, I crept into his room to check he was ok. To my terror I could hear a funny choking noise. I turned the light on and he was white as a sheet, his wide eyes locked open, lips blue and foaming at the mouth. I screamed to Carl to come in and call an ambulance. Curtis’ body was all stiff and shuddering, I said to Carl “he’s choking, he’s choking, he cannot breath, what is he choking on?!” None of us had ever witnessed a seizure before and of course we then learnt this was what was happening, and the seizure was affecting his breathing.
The ambulance soon arrived. Curtis had a temperature and they said it was a febrile convulsion and it would stop shortly. But it just didn’t. They scooped him up into the ambulance and gave him oxygen – I can remember being so scared my whole vision went white. I thought all those times I complained about the newborn stage and him not sleeping, was he actually going to die? It was pure panic and terror and I felt helpless. We arrived in resus and he was still seizing, they put numerous medications into him and as some of his veins collapsed they had to drill into his little legs, 45 long minutes he finally stopped. His body then came out in a huge rash and we were in hospital for 3 nights. We were finally discharged with the diagnosis of a complex febrile convulsion due to a viral infection, thinking this was just a one off horrendous ordeal. Little did we know more was to come. In hindsight we did lose him that night, and he lost the life he should have had.
Gaining a diagnosis
After the first seizure, Curtis went on to have another one during our first family holiday with friends at Center Parcs. He was in the swimming pool and I suddenly noticed him shaking. I said to Carl he is cold, get him out but we soon realised it was happening again. We ran screaming through the changing rooms with his little body shaking asking someone to help us. It again went on for over 30 mins and we stayed overnight at Bedford Hospital cutting the holiday short and leaving the next day heartbroken. It then clicked that something was very wrong with our beautiful big eyed boy, but what?
The follow up clinic from his first seizure was just to confirm he was developing normally and at that time he was and to basically see how things progressed. Then in June, when I was away at a friend’s wedding, Carl thought he noticed Curtis having jerks. He would be playing and then suddenly he would lose concentration and his body would just jerk like he had an electric shock. I notified the team who were looking after him and we were admitted to our local hospital where he had an EEG and I had to log how many times they were happening. We lost count and he was started on medication which we hoped would stop the seizures but it didn’t. He was just 9 months old.
Then two weeks later, on the hottest day of the year, the epilepsy nurse had been round to see me in the morning to talk about rescue medication in case he had another big seizure and how to use it, issuing me a prescription to collect. That afternoon I couldn’t keep him cool, I think inside the house it was 28 degrees and the jerks kept coming more frequently. Then he just went into a seizure with one sided arms and legs (hemi clonic typical for Dravet), and it didn’t stop. Carl rushed to the hospital from work and after he was gone for an hour they decided to intubate him and put him in an induced coma. We sat in the relatives room while they did it feeling helpless and praying for our son and all he had to endure. Thankfully he came round bright and bashful but then once on the ward we were informed we had to be transferred to London. We didn’t know at the time but Dr Elaine Hughes had been aware of Curtis’ history and suspected Dravet Syndrome, with this last seizure putting the puzzle into place. We were blue lighted to London in case he seized on the way, Carl following behind in the car. I had never felt so alone and scared since his first seizure. What had happened to our beautiful baby boy? He was deteriorating and changing daily, what was life going to hold for him? We stayed at Evelina for two weeks and they introduced another medication and sent Curtis’ blood along with ours for genetic testing. Dravet spectrum was mentioned but nothing concrete confirmed until the tests came back. We googled Dravet Syndrome and it looked horrific – we were devastated. It was then 8 long weeks of waiting until one evening we had a call from Dr Hughes… Curtis has Dravet Syndrome and neither me or Carl were carriers. He was, as it was put, just very, very unlucky.