Toronto parents raise over $ 80,000 for research into daughter’s severe genetic disorder

In her first 19 months, Maddie Kilner has experienced dozens of seizures, spent weeks at Toronto’s SickKids Hospital and defies 16 injections of medication a day.

She is among the handful of children in Canada and about 400 worldwide who have been diagnosed with the rare genetic disorder SCN8A, which can cause severe epilepsy, developmental delays and sudden, unexpected death.

And with limited knowledge about the disorder and no cure, her parents Cameron Kilner and Julia Sisnett said they are in a race against time. So they recently took to social media and launched a fundraising campaign to help find answers.

“Everything is hard, isn’t it? But when you’re with her and you see how hard she works, it really helps you stay motivated,” Kilner said. “And we will do everything we can to help her, because it’s really not fair what she’s going through.”

In one week, they raised more than $ 80,000 for SCN8A research through the SickKids Foundation.

“It’s really, really critical funding because it’s so important to these kids,” Sisnett said. “We see that it affects their whole lives.”

Maddie can not yet walk or talk, but laughs and smiles generously. Her parents said they have learned to celebrate her small gains, as when she learned to stand by using her walker, and most recently how to point out what she wants.

The first sign that something was wrong was when Maddie was four months old. Sisnett said she walked past her room and heard a rattle. Maddie had a seizure in her cradle that lasted for “three very long minutes,” she said. Maddie was in and out of SickKids all winter while the seizures continued.

Research could improve treatments

In March, her doctors found out the right combination of epilepsy medication and she has not had a seizure since. But in June, she was diagnosed with SCN8A and her parents said they found out her seizures could return at any time. The medication also has their own side effects that can limit her development.

“If we can just help Maddie get a head start on it, I think that’s really what’s helping us get through this,” Kilner said. “If we can make a difference for Maddie and other families going through SCN8A, it’s first and foremost.”

Julia Sisnett, left, Maddie and Cameron Kilner. Maddie appeared to be a healthy baby until she had her first seizure after four months, Sisnett says. (Posted by Julia Sisnett)

SickKids Hospital’s Dr. Gregory Costain, who specializes in diagnosing rare genetic conditions in children, said the research will not only allow doctors to better care for patients with SCN8A, but also use more targeted treatments to get to the root of the disorder.

He said research into rare conditions also helps scientists understand more common ailments. For example, recent studies looking at genetic types of epilepsy, such as SCN8A, have helped advance the understanding of epilepsy in general.

“It’s a phenomenal piece of advocacy on behalf of these parents,” Costain said.

“Ultimately, we want a better outcome for each child.”