Josie-Mae had her first seizure at three and a half months and was diagnosed with Dravet Syndrome at one year old. She lives with her mum, Lyz in the Midlands. Lyz shares their story below.
Early signs of Dravet Syndrome
Josie has her first seizure at three and a half months. She had been perfectly healthy until then. One morning, she was making strange sounds and we realised when looking at her that she was having a seizure. It lasted 30 minutes. We went into panic mode, she went to the hospital and she was tested for all sorts of things – could it be a brain tumour or meningitis?
We were told it was probably a one off and sent home. Two weeks later, the same thing happened. Another two weeks later, the same thing again.
Each time we’d take her to the local hospital and explain what had happened but were dismissed. Perhaps because seizures in infancy are quite common, but prolonged seizures at such an early age are not, and can be an early sign of Dravet Syndrome. Unfortunately, the epilepsy consultant at our local hospital had not heard of Dravet.
The fact that Dravet is not well known or understood, even in hospitals, has made things even tougher. There have been times when I’ve taken Josie to A&E and the children’s ward and I’ve explained to medics that she has Dravet, rather than another type of more common epilepsy, but they haven’t heard of it, they’ve looked at me like I’m mad. When you are in an emergency situation, and your daughter’s life is at risk, it’s just so stressful to be also having to explain what her condition is at the same time.
Gaining a diagnosis
We were so desperate that we ended up paying to see a professor of epilepsy privately. The next time Josie had a seizure, the private consultant told us to take her to Birmingham Children’s Hospital instead of the local hospital.
She was kept in for two weeks and had no seizures in that time, so was about to be discharged as they couldn’t keep in a bed free any longer when they thought she was okay. Right at the last minute she had a big seizure (not even the biggest she’d had) and suddenly they understood, and she was treated as an emergency.
It was then that we realized that the drugs (sodium channel blockers that are commonly used in epilepsy) she was on were making her seizures worse. She came out of hospital but was back in almost straight away.
It was an epilepsy consultant at Birmingham Children’s Hospital that spotted the signs of Dravet Syndrome and made a diagnosis. Josie’s seizures were slightly different to those typically associated with Dravet. She didn’t have a febrile seizure until she was 14 months old.
Josie was placed under investigation by the complex epilepsy team, the lead consultant was leading research into Dravet and had suspicions from the first ward round. There was a board with information on outside the ward, it was about a rare condition called Dravet and my mum said ‘that sounds like Josie’. My dad had also read in the newspaper the week before that a little boy with a rare type of epilepsy had been given medicine that made him worse not better, again it was Dravet! She was diagnosed as having Dravet Syndrome at 12 months.
Lyz’s advice for other families affected by Dravet
My advice would be to reach out and take all the help offered. It’s common that parents deal with the stress of situation differently and in our case, this led to us separating. Josie’s diagnosis took a huge toll on my mental health, and I wasn’t coping at all in the early days. I was so terrified that she would have another seizure that I was trapped waiting for the next one.
I was diagnosed with PTSD as a result of all I’d been through. I’ve learned to reach out and accept help where it’s offered. I’ve also had cognitive behavioural therapy which has really helped. These days I feel more confident when she has a seizure, I know what I need to do and get on with it.
If you are struggling, get help. There is so much that social/children’s services can provide and it’s important that you take that outside help and don’t try to manage it all on your own.
How Josie-Mae is doing now
Josie-Mae’s seizures have improved since recently being prescribed fenfluramine. Fenfluramine doesn’t work for all those with Dravet Syndrome, but so far, it has been positive for Josie.
Before she started taking fenfluramine, she was having weekly seizures. Now it’s more like a third of the seizures she was having before. Her seizures have changed too, which means she is not always needing rescue medicines and they have become shorter in comparison to before fenfluramine. It means that Josie can go to school or days out the day after a seizure, instead of being too tired. It’s made me more confident for sure.
In addition to seizures, Josie has delayed development and that upset me so much. She was ahead of her peers at one year – she could say 20 words and was sitting up at 6 months. It was so hard to accept when she started losing words.
We don’t know how she will develop, but she is coming along at the specialist school she goes to locally. She’s in their nursery and they are great there. This year Josie has started walking and is walking into the school playground by herself this month, it makes me so proud!
Josie loves music, dancing, ukuleles and guitars and music therapy. And she loves playing with water. She also adores animals, her pets and visiting animal farms.
BBC Hereford & Worcester
Lyz took part in a Dravet Syndrome awareness raising campaign in 2022 and shared her story on local radio. You can listen back here.
About Dravet Syndrome
Discover more about Dravet Syndrome here.
Support for Families
We support all families affected by Dravet Syndrome. Read more here.