In her first 19 months, Maddie Kilner suffered dozens of seizures, spent weeks at SickKids Hospital in Toronto, and braved 16 syringes of medicine a day.
She is one of 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 and unexpected death.
And with limited knowledge of the disease and no cure, her parents Cameron Kilner and Julia Sisnett have said they are in a race against time. So they recently took to social media and started a fundraising campaign to help find answers.
âEverything is difficult, isn’t it? But when you’re with her and you see how hard she works, it really helps you stay motivated,â Kilner said. “And we want to do whatever we can to help her because it’s really not fair what she has to go through.”
In one week, they raised over $ 80,000 for SCN8A research through the SickKids Foundation.
âIt’s really, really critical funding because it’s so important to these kids,â Sisnett said. “We see it has an impact on their entire life.”
Maddie can’t walk or speak yet but laughs and smiles generously. Her parents said they learned to celebrate her small victories, like when she learned to stand with her walker and, more recently, to indicate what she wants.
The first sign that something was wrong was when Maddie was four months old. Sisnett said she was walking past her room and heard a rustle. Maddie had a seizure in her crib that lasted “three very long minutes,” she said. Maddie has been in and out of SickKids all winter as the crises continued.
Research could improve treatments
In March, her doctors found the right combination of epilepsy drugs and she hasn’t had a seizure since. However, in June, she was diagnosed with SCN8A and her parents said they learned that her seizures could return at any time. The drugs also have their own side effects that could limit its development.
âIf we can just help Maddie get the edge, I think that’s really what gets us through that,â Kilner said. “If we can make a difference for Maddie and the other families who go through SCN8A, that is first and foremost.”
Dr Gregory Costain of SickKids Hospital, who specializes in diagnosing rare genetic diseases in children, said the research will not only allow doctors to better care for patients with SCN8A, but also to use more targeted treatments. to get to the root of the problem.
He said research on rare diseases is also helping scientists understand more common disorders. For example, recent studies looking at genetic types of epilepsy, such as SCN8A, have helped to better understand epilepsy as a whole.
âIt’s a phenomenal advocacy job on behalf of these parents,â Costain said.
“At the end of the day, we want to have a better outcome for every child.”