Article from 2022/2023 Impact of Giving Annual Report

The first six months of Fraser’s life were filled with all the normal firsts – his first smile, the first time he rolled over, his first laugh. Then one night, Fraser experienced a terrifying first – his first seizure.

“It was around one in the morning. I heard Fraser cry out so I went into his room and thought he might need a nappy change. I laid him down on the change table and he just screamed, but not in a way that I’d heard before.

“So, I picked him up and he just went stiff. His back arched and his head flew back. Then he started convulsing,”
said Fraser’s mum, Renae.

Fraser’s first seizure went for eight minutes, ending just as the ambulance arrived. He was taken to The Austin Hospital where he had more seizures, before being intubated and transferred to the RCH, spending a few days in the Paediatric Intensive Care Unit (PICU).

Once they knew their little boy would be okay, Renae started questioning why the seizure had happened.

“He had received a vaccination about 36 hours before the seizure, so I thought it could be an adverse reaction as a result of that and reported it. Soon after that, we had a meeting with the immunisation team at the hospital.

“The paediatrician said that while some kids can have febrile seizures with vaccinations, they aren’t like the seizure Fraser had. She suggested that we do a genetic test to try and understand what the cause was,” said Renae.

The family underwent testing the same day. What came next was a desperate waiting game – not only for their results, but for when Fraser would have his next seizure.

“I was a mess. Fraser would call out in the night for his feed and fear would come over me. For weeks during our night feeds, I would hold him, and my legs would shake so badly because I was so scared it would happen again,” she added.

Fraser’s results revealed a gene mutation in the SCN1A gene, which for Fraser meant a diagnosis of Dravet syndrome, a rare and very severe form of epilepsy.

Presenting in the first year of life, Dravet syndrome causes seizures that don’t respond well to medications. As they grow, and their seizures continue, most children also experience developmental delays.

“Fraser’s condition has impacted everything. It stops him from being a kid. In the past year he has had around 50 tonic- clonic seizures. We don’t go outside if it’s too hot or too cold because it could trigger a seizure.

“If he gets too excited, he has a seizure. In the past year he has had a seizure on his birthday, on Christmas Day, on Easter and on his dad’s birthday,” said Renae.

Fraser is just one of thousands of patients diagnosed each year with epilepsy. With over 800 different genetic causes, the path to a targeted treatment plan can be a long one.

However, dedicated researchers across the world are working to change that.

One of them is Dr Katherine Howell, a Clinician Scientist Fellow and neurologist at the RCH. Through the fellowship program, Katherine is working on a study of rapid genome sequencing in babies with suspected genetic epilepsy.

Katherine’s hope is that through her work, more children like Fraser will be able to get targeted treatments sooner.

“Our work has shown that rapid genome sequencing can make a genetic diagnosis in over 40 per cent of babies, and frequently helps us individualise a child’s treatment. We are now studying the longer term impacts that rapid genome sequencing has for a child, their family, and the health system.

“Demonstrating the range and magnitude of benefits is critical to ensuring that children around Australia and the world can access rapid genome sequencing in clinical practice in the future,” said Katherine.

Renae knows just how much it means to families like theirs to receive any diagnosis, let alone one within a few weeks.

“If Fraser had another seizure before we got the diagnosis, he might have been put on a commonly prescribed group of seizure medications that are not good for kids with Dravet syndrome – they exacerbate the seizures instead of helping them.

“Getting the diagnosis when we did meant that we were able to skip that, but there are families waiting months or years who might not be so lucky,” said Renae.

“Long term, knowing the cause of Fraser’s seizures meant we were able to prepare ourselves earlier for what our new normal would look like. It also means we can access medications via the PBS, saving us thousands of dollars a month.”

Renae is also excited by what Katherine’s work might mean not only her own son’s future, but for other children like Fraser.

“For children with epilepsy, research is the only thing that is going to make a difference long term. Research can lead to personalised treatments and even better – a cure.

“But we can’t do any of that without funding. We need more funding for more Katherines – people who are dedicated to changing the outcomes for children like Fraser,” Renae added.