Natalia had her first seizure at 16 weeks old and was diagnosed with Dravet Syndrome at age 2. Her mum, Nikita, tells their story.
My pregnancy with Natalia was normal and healthy and she was born with no complications. At 16 weeks old, she had her vaccinations and five hours later she was in a full seizure. We know now that it was a tonic clonic seizure and the first of many. It lasted nearly two hours and despite many medications being administered, she had to be put onto a ventilator.
At the time, we were told that Natalia had had a febrile seizure. At 33 weeks old we were back in the same situation. A diagnosis of epilepsy was given, and she was started on sodium valproate.
We were given lots of information about epilepsy to go and research. After many more status seizures, I came across Dravet Syndrome and my gut feeling was that she had it. I raised this with our epilepsy nurse and consultant, who reassured me that Natalia did not have Dravet Syndrome.
She was put on carbamazepine, which in turn made her seizures much more frequent. We know now that this drug is avoided in Dravet Syndrome for this reason.
Gaining a diagnosis
Natalia was referred to Neurology and it was at this appointment where I asked again if it could be Dravet Syndrome. I’ll never forget that conversation - the reply this time was ‘it’s certainly a possibility’.
A blood sample was taken and sent to Great Ormond Street Hospital for testing. It came back that Natalia had a SCN1A mutation. Her dad and I were then tested and both of us were negative. Natalia was given a diagnosis when she was just over 2 and a half years old and although deep down I knew it was going to happen, I still felt shocked, emotional and angry. I also felt proud and overwhelmed at how strong and resilient Natalia had been.
Living with Dravet Syndrome has been difficult. Natalia cannot play outside on a warm day as it induces her seizures, which then leaves us quite alone as that's the best time to enjoy being outdoors. My friends all took their children exploring on a nice day and we stayed in. However, that doesn't mean we haven’t had fun. When Natalia was younger, we got her an indoor slide that folds flat for storage. Now she’s bigger, we have a swing and slide set in the garden. If we can't take her to the park, we will bring the park to her! We have indoor flowers for her to enjoy and she loves messy play.
Natalia’s seizures are very unpredictable, and we have no warning that it’s going to happen. We used to plan days out as a family, and my other children (Jack, Rhys and Mia) would get excited, then Natalia would take ill and that's quite upsetting for the others. Now we still plan days out, but we don't tell the children, so if she takes ill, it doesn't matter. We find as a family, being open and honest about the condition is the best way forward, even if it’s difficult to accept at times. Kids are fantastic at adapting with the right knowledge and support. It can be a struggle day-to-day with Natalia’s many needs, but this is the new normal for us. It takes some getting used to, but you get there in the end.
Dravet Syndrome is not ‘just’ seizures. It’s medication side effects, sleepless nights, gastrostomy feeding, mobility issues and the list goes on. Having said that, each child and adult is different, so it’s important to try not to compare to others who are living with the condition, but be aware that these are potential issues so that it isn’t such a shock when things happen. We have a lot to deal with – Natalia likes to keep us on our toes.
The only advice I would give to other parents facing this is to be confident. You know your child best, so don't be afraid to speak out. You will have good days and bad, feel on top of the world one day, and the next like your world is falling apart. It's normal and it's okay, you are not alone. Behind every strong child is a strong parent.
Support from Dravet Syndrome UK
Dravet Syndrome UK were there for me when Natalia had a serious seizure and was put on life support as a result. They listened and, more importantly, they understood. They made me feel normal and gave me my confidence back.
They provided us with a night-time monitor and a finger pulse oximeter through the Seizure Monitor Fund. Having the peace of mind to put her to bed and still see and monitor her is wonderful. The supportive online forum and telephone support is so helpful, and the Family Guide they provide contains so much more information than you’ll get from any hospital.
The charity is amazing, and I would urge anyone living with this condition to be a part of it.
A loving little girl
I found that most people don't understand our worries and I've now come to terms with that and that's fine. Natalia knows no different and she's a very happy little girl. She is not disabled, she just has a different ability - she has the ability to fight super hard when she's ill, the ability to love everyone and the ability to be completely non-judgemental. She and any other child or adult with Dravet Syndrome are amazing people that face and overcome more than what most others are faced with. In my opinion that makes them exceptional.
Natalia still has horrible seizures and, yes, each one still scares me as it always will. She has had a gastrostomy, as her appetite is pretty much non-existent, and this has been a game changer for us.
She loves to paint and play with slime, anything messy really. Her love of music shines through - her favourite is George Ezra and she also likes Johnny Cash among others.
She's an inspiration to our family and is such a strong willed and loving little girl.