John Joseph lives in Northumberland with his mum, Georgina and younger sister, Nyla. Georgina shares their story.
John Joseph had his first seizure at five months old. I woke up to him convulsing and I had no idea how long he had been like that or what caused it. When the ambulance arrived, they said he had a temperature. Medication didn’t stop the seizure and we were rushed to hospital. They did lots of tests and they all came back clear. We were told it was a febrile convulsion and it was nothing to be worried about. As a mother, I didn’t believe it. I had that gut instinct but I hoped they were right.
Two weeks later, the same thing happened again, but this time I noticed him jerking every few minutes before he went into a full-blown seizure. Again, they rushed us to hospital and two hours later he had to be sedated to stop the seizure. Five hours later they tried to wake him but he was still convulsing, so was placed into an induced coma until the following day. We were told again that this was a febrile convulsion and not to be worried.
Gaining a diagnosis of Dravet Syndrome
I started researching online and soon learned that John Joseph’s presentation of a febrile convulsion wasn’t ‘normal’. I read that typically, febrile convulsions were under five minutes and anything over was considered life threatening. I came across a website which mentioned Dravet Syndrome and I just knew instantly that my son had it.
I rushed back to intensive care at 3am and asked them to test him. The staff hadn’t even heard of it and tried to reassure me they didn’t think it was the case. I had consultants come to visit me and they all said they hadn’t heard of it. I asked to be referred to a specialist that did understand and was told I would have to wait for the appointment to come through. Again, we were sent home and I felt like my child was a ticking time bomb; I was terrified to be alone with him as I was so scared about the next seizure, but I knew it was coming.
It did happen again a couple of weeks later and again we were admitted to PICU and this time they sent for the neurology consultant to see us. I was so relieved that he had heard of Dravet Syndrome. He also thought it was a possibility. The results of the genetic test took six weeks to come through and even though I suspected John Joseph had Dravet Syndrome, I was nowhere near prepared enough to hear that the SCN1A mutation has caused it. I was absolutely devastated. I felt like his future had been robbed and I didn’t cope well for a long time.
Support from Dravet Syndrome UK
I soon connected with DSUK and other families affected by Dravet Syndrome. I attended the charity’s annual weekend away a month or so after John Joseph’s diagnosis. I remember feeling really overwhelmed the first time I saw the other kids as I wasn’t prepared to see how his future might be.
While we were there, John Joseph had a big seizure. We went to hospital in the ambulance that Dravet Syndrome UK had organised that is onsite for the duration of the weekend. DSUK staff Teresa and Linzi came to his bedside and sat with us while he was in intensive care and made sure we were all okay. I honestly don’t know how we would have coped without the help from DSUK and those two amazing ladies.
It took a while to build the confidence to go anywhere with him after this. Or to leave him with anyone else. My family were scared to help because they had seen for the first time how bad he got and how quickly it happened without any warning. I was a single parent and was exhausted and I felt very isolated. Back then I believed it would never get better and that he wouldn’t have a future. I allowed the fear to rule over everything. I stopped him from doing lots of things in the fear it would cause a seizure that might take him. And we lived like that for some time.
I applied for a night-time monitor from DSUK to help protect him while he slept. Now it goes everywhere with him, so if he ever has a seizure while out and about, I can keep check of his vitals and do what I need to do to help him.
At the DSUK conference, I learned information that even our consultant didn’t know. Every time John Joseph received phenytoin in resus he would end up in PICU. Since learning this, and putting a stop to that medication, John Joseph has never been back in PICU.
A happy, loving little boy who adores his little sister
John Joseph is the most loving little boy I know. He’s so happy and content with his life and I just look at him every day and smile. He’s taught me so much about life.
He loves sports, like football and boxing and will watch all day long if I let him! He’s even joined a special needs football club which he absolutely loves. He loves to swim and use the hot tub, which is something I was once terrified to let him do. Seeing how happy he is in the water just makes everything clear. And he has the best sense of humour!
John Joseph puts everything into perspective for me, he’s just so happy. His seizure control is the best it’s been and he recently went 16 months seizure-free. We rarely see seizures these days.
He adores his little sister Nyla, who copes so well with everything. She teaches him all the things she learns and loves to ‘take care’ of her big brother. She’s only three years old, but has learned how to feed him through his peg and has learned some Makaton.
I was scared when I found out I was pregnant with my daughter Nyla. I worried I’d neglect her needs as John Joseph has so many, but we’re such a good team. The love between them is clear for everyone to see.
Seeing my kids happy makes me happy, and how I felt back when he was diagnosed is a distant memory. We all love our life and I would say that is the best advice I can give. Love and live.
Georgina took part in a Dravet Syndrome awareness raising campaign in 2022. You can read the article in the Chronicle Live here.
Every Dravet Syndrome journey is unique. Read more stories here.
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We support all families affected by Dravet Syndrome. Read more here.