From 10 seizures a day to one a week
Bronte had her first seizure at 12 months old. She had a febrile convulsion with a very high fever. This isn’t uncommon for babies. However, from that time on she continued to have seizures, some would go for over an hour. At five years of age, she was diagnosed with a severe form of epilepsy called Dravet Syndrome.
Dravet Syndrome starts in early infancy in babies who were previously normal and healthy. It is characterised by frequent epileptic seizures, that can happen any time of the day or night. Typically, by the time the child has reached five years of age they would have had multiple visits to hospital emergency to treat the seizures, as they can be very long and can be life-threatening.
Sadly, about 10% of children will die due to the severity of their epilepsy. However, with early diagnosis and intervention people with Dravet Syndrome can live to adulthood.
Bronte’s childhood was very difficult due to her epilepsy.
Most days she would have between 2 and 10 seizures, mostly at night. On a really bad night she could have up to 20 seizures.
Bronte had a moderate to severe intellectual disability, had to wear a helmet to protect her head, and was sleepy and disengaged most of the time due to all the medication she was on.
She had also begun to drool and was beginning to need to wear something around her neck to help.
“Things were pretty bad…we were chronically sleep deprived, and this was starting to take its toll not just on Bronte, but on my husband and me as well. I started to feel scared that we would lose her," Bronte's mum, Deb, said.
Dr Deepak Gill from Kids Neuroscience Centre first met Bronte at age 16 in 2017 when her neurologist referred her to him to consider whether she would be suitable for a clinical trial that he and his team were due to start at The Children’s Hospital at Westmead.
This was a randomised control trial to research a new treatment for Dravet Syndrome, a medicine called fenfluramine. Fenfluramine has been shown to be a very effective treatment for people with Dravet Syndrome, but the number of people who had been treated to date was very small.
Also, when a new medicine is available as a possible treatment the only way research clinicians can know whether it is really working is to study the medicine as part of a drug trial. This particular trial was ‘blinded’, which means that for a period of three months neither Bronte’s family or Dr Gill knew whether she was taking the fenfluarmine or a placebo.
“Drug trials can be very daunting for families but is only by being able to perform drug trials that we can learn about new treatments in a safe, and scientific way," Dr Gill said.
Bronte’s family volunteered to be part of the trial and they knew that they were just one of many children who were volunteering to be part of this study in many countries including US, UK, South Korea, France, Belgium and Italy.
The findings were that fenfluramine was an effective and safe treatment for Dravet Syndrome and it reduced the number of epileptic seizures by over 75%. Prior to this, no drug has been shown to be this effective in treating Dravet Syndrome.
Before the trial Bronte had tried nearly everything, including many different drugs and the ketogenic diet, nothing had worked. Deb said when they were offered the trial, they had nothing to lose.
“We were excited to be invited to join but also nervous… It helped that the team involved were available when we needed them, and quick to respond when we had questions or concerns…. We felt very safe," Deb said.
Within the first week of the trial Bronte’s nocturnal seizures stopped. After a few months she went from having 10 seizures a day to 1 or 2 a week and then began having seizure free weeks.
The drooling also stopped and Bronte started to talk more, ask questions and make eye contact.
“She was a new girl. For me it was like I was seeing my little girl again…It was so exciting. And beyond anything we could have ever hoped for," Deb said.
The results of this trial mean that fenfluramine is now available in the US, Europe and Japan for the treatment of Dravet Syndrome and is hoped to soon become available in Australia.
Bronte now talks more, argues more, laughs more and is generally so much more engaged in her life. She is also now sleeping in her own room (with a monitor) after years of co-sleeping.
The effects of this have been felt by the whole family. Deb can now rest easier, knowing her daughter's seizures are being managed. Bronte's siblings are happier too, no longer stressed by the sudden and regular trips to the hospital.
Bronte is 21 years old now and has a solid group of friends around her and is getting to experience a whole new way of living.
“It's given us the respite we all so desperately needed."
"It's been a real game changer in a way that we never thought was possible,” Deb said.