Elise is daughter to Stella and Phil and older sister to Jasmine. She lives as a full-time resident on a specialist school/college campus. Stella shares their story.
At 5 months old our beautiful, seemingly healthy, baby girl had her first seizure. We had been packing for our first family holiday when we found Elise in her cot seizing. Lots of panic ensued and after an overnight stay in hospital we were told that it had been a febrile convulsion and we were sent home.
This was the start of regular seizures, mostly in excess of 40 – 90 minutes, and a two-year period of panic, unpredictability, numerous ambulance rides, stays in ICU and a lot of heartache.
In between seizures Elise was the most resilient, wilful, fun loving little girl who had boundless energy and no sense of danger.
Gaining a diagnosis
It was Elise’s consultant who suggested at 12 years old that she had a genetic test done to try and find a cause for the seizure activity. We had queried syndromes years earlier, after reading about Lennox-Gastaut Syndrome, but it had not been thought she fitted the profile for this condition. Elise’s official diagnosis alongside autism and severe learning difficulties, at this stage, was idiopathic epilepsy.
The results of the genetic test confirmed the SCN1A mutation and a diagnosis of Dravet Syndrome.
Support from DSUK
When we received the diagnosis, we were keen to learn more about Dravet Syndrome and found Dravet Syndrome UK. We quickly made links to other Dravet families, joining the Annual Family Weekend Away trip to Center Parcs shortly after diagnosis. We were overwhelmed to have found our tribe of like-minded people with similar stories, lifestyles and struggles. After 12 years of uncertainty, we finally felt less isolated.
Alongside seizures, Elise had always presented with behaviour difficulties which was in effect our greatest challenge - it brought about a lack of understanding from others and at times we felt we had nobody to turn to for help, advice or support.
Elise became isolated as a result of her behaviour and was often feared by others, particularly her younger sister Jasmine who supported her without question, but struggled to understand the aggression.
Family life was hard. That said we had amazing friends, some of those through school, who tried to normalise things for us and see past the behaviour and appreciate our beautiful girl as we did.
If we were to look back on Elise’s early life we would have pushed more, earlier on, for a diagnosis. We would have had more faith in the fact we knew our child best and pushed for more help and support than we had.
Our turning point was getting a good balance with medication and as a result Elise had less seizures and therefore less erratic and aggressive behaviour.
As Elise’s seizures increased and her behaviour became impossible to manage at home, we looked at residential schools and fought long and hard to get Elise a placement, at 17, at a wonderful school in Cheshire which specialised in Epilepsy. She was away at term-time and home in the holidays.
We were devastated not to have Elise at home with us, but as she was struggling so much at home and school, sleeping most of the day due to seizure activity and medication, we needed a more holistic approach to her care. Her placement meant she had a GP, nurses and consultants all working with her to improve her outcomes, alongside behaviour services to look at the big picture. Now she has finished school, Elise is a full-time resident on campus.
There has been a time when we nearly lost the placement and had to look at Supported Living options nearer home. But this wouldn’t have been the right fit for Elise, who needs a lot of support 24 hours a day.
A smiling and happy young lady
Elise could not be thriving more - seizures are at an all-time low, behaviour as a result is so much better and Elise is the happiest, most settled she has ever been. She is never happier than watching ‘Bob the Builder’ on her iPad whilst listening to ‘Status Quo’ on a continuous loop all day - always smiling and laughing. While Elise still struggles with behaviour, she is now better understood.
We could not be more proud of our amazing, resilient daughter and her ability to overcome so many major barriers in life.