Ben
Ben received his Dravet Syndrome diagnosis as an adult, despite having had his first seizures, 3 febrile convulsions, at 5 months old. Thank you to his Mum, Liz, who tells their story.
Ben was 5 months old when he had his first seizures - three febrile convulsions. It was so scary seeing him having trouble breathing, needing oxygen and the ambulance turning up. As a parent you don’t know what’s going on with your very young baby. We were told by the doctor that there was nothing to worry about.
At 7 months old, he had his first ‘status epilepticus’ which lasted an hour. He had to have a lumbar puncture, and when the results came back, they showed that he had HIB meningitis and septicaemia. He was very poorly. After a stay on the high dependency ward, Ben was referred to an epilepsy consultant, who wasn’t sure at this stage whether the meningitis and septicaemia had been brought on by his epilepsy. We didn’t know what to think.
Gaining a diagnosis
His seizures got worse and were very hard to control. The doctor wasn’t sure why and so we were referred to a Clinical Consultant for Genetics, who at the time said he thought there was something, but wasn’t sure what it was. He took Ben’s bloods and sent them off as part of the Deciphering Developmental Disorders (DDD) study, where Ben’s DNA was analysed to look for possible genetic causes of developmental disorder.
We didn’t know the results of this test until a while later, after Ben had transitioned to adult services. The doctor called us to let us know he had been looking into Ben’s previous test results, including the DDD test. Ben’s result was showing he had a mutation in the SCN1A gene and so the doctor wanted to investigate further.
It was around 2 years later when the medical team confirmed that Ben had Dravet Syndrome. We’d never heard of it, despite having a full report on Ben’s genetics from the DDD test.
Challenges
Throughout Ben’s life we have become very used to being at home one minute, in resus the next. We have a bag ready at all times, so we know where everything is, just in case, and live constantly on edge with the terror of not knowing if each seizure will be able to be stopped.
When Ben goes into hospital now, we are lucky in that I have made sure we have our own carer team that stays with him.
He has a Portacath – an implantable port which is a type of intravenous access system that is inserted underneath the skin. We are fighting a battle in that we don’t find many healthcare professionals that are trained to use it.
It’s always very stressful, watching him being in ICU when he is very poorly. We take one day at a time and always try to remember that there are people worse off than us. Ben’s brother, Paul, works as an auxiliary nurse in our local hospital and so we’re always grateful for Paul checking in on us when he’s at work and we’re admitted to hospital.
Ben’s younger sister, Sammy, is autistic. It’s incredibly difficult for her. She worries terribly about him and if Ben is rushed into hospital, she’ll stay awake until I’m home and can let her know that Ben is in the best place and that the doctors are helping him to get better.
I think the hardest thing is watching your child/adult deteriorate. Ben has been through so much in his life – he has severe learning disability, is peg-fed, has scoliosis, cerebral palsy and is wheelchair-bound. He recently had a slight collapse of his right lung. He has had a vagal nerve stimulator and many more things to cope with. However, Ben is the most amazing young man who has the cheekiest smile going. His smile lights up any room and makes everyone’s day instantly better.
Support from Dravet Syndrome UK
It wasn’t until we joined Dravet Syndrome UK after Ben finally received his diagnosis, that a lot of things started to make sense, particularly why his epilepsy was so difficult to control.
The private Facebook Forum for parents/carers is a great resource. You can find out what others are going through and it’s good to know that you may also be able to help another family by sharing what you’ve been through yourselves.
We came to the Annual Family Weekend Away at Center Parcs in 2023 for the first time. It was amazing to feel that we weren’t alone and we weren’t the only parents caring for an adult with Dravet Syndrome. For me, it was lovely meeting other mums especially, with the space and time to just sit down and talk. It made me realise I wasn’t alone.
For Ben, it was fantastic! He loved feeding the squirrels and ducks that would come to the lodge we were staying in, and he was so excited to have his face painted. He sang to the Lion King which was put on as a request, specially for him. He was grinning like a cheshire cat, bless him!
A Lion King loving young man
Ben has such a kind heart. He loves helping sort out old Christmas Cards and we make them into Christmas gift tags to raise money for our local hospital. He is happy that his fundraising is helping the hospital to buy equipment for those with complex needs.
Ben loves the Lion King and sings the songs all the time. He likes horses and has an amazing therapy dog called Thunder. He enjoys watching machines on building sites, like JCBs, and sitting at the top of our main road, watching cars, vans, lorries, buses and of course, police cars, fire engines and ambulances. Ben has a heart of a lion and a smile that you will never forget.
