In her first 19 months, Maddie Kilner has experienced dozens of seizures, spent weeks in Toronto's SickKids hospital and braves 16 syringes of medication a day.
She's among the handful of children in Canada and about 400 worldwide who've been diagnosed with the rare genetic disorder SCN8A, which can cause severe epilepsy, developmental delays and sudden, unexpected death.
And with limited knowledge of the disorder and no cure, her parents Cameron Kilner and Julia Sisnett said they're in a race against time. So they recently took to social media and launched a fundraising campaign to help find answers.
"Everything's hard, right? But when you're with her and you see how hard she's working, it really helps you stay motivated," said Kilner. "And we want to do everything we can to help her because it's really not fair what she has to go 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 for these kids," Sisnett said. "We're seeing it impacts their entire lives."
Maddie can't yet walk or talk but laughs and smiles generously. Her parents said they've learned to celebrate her small wins like when she learned to stand using her walker and most recently how to point to what she wants.
The first sign something was wrong was when Maddie was four months old. Sisnett said she was walking by her room and heard a rustle. Maddie was having a seizure in her crib that went on for "three very long minutes," she said. Maddie was in and out of SickKids all winter as the seizures continued.
Research could improve treatments
In March, her doctors figured out the right combination of epilepsy medication and she hasn't had a seizure since. However, in June she was diagnosed with SCN8A and her parents said they learned her seizures could return at any time. The medications also have their own side effects that could be limiting her development.
"If we can just help Maddie get an edge on it, I think that's really what helps us get through this," Kilner said. "If we can make a difference for Maddie and other families going through SCN8A, that's first and foremost."
SickKids hospital's Dr. Gregory Costain, who specializes in diagnosing rare genetic conditions in children, said the research will not only allow physicians to better care for patients with SCN8A, but also use more targeted treatments to get at the root of the disorder.
He said research into rare conditions helps scientists understand more common disorders, too. For example, recent studies looking at genetic types of epilepsy, such as SCN8A, have helped further the understanding of epilepsy overall.
"It's a phenomenal piece of advocacy on behalf of these parents," Costain said.
"Ultimately, we want to have a better outcome for every kid."