‘No cure’: Toronto family of toddler battling rare, new disease raises funds for research

'There's no treatment now and there's no cure. Some medications work better than others, but there's no perfect medication to control it.'

In the backyard of their Toronto home, on a blustery December afternoon, parents Julia Sisnett and Cameron Kilner push their 19-month-old daughter on a colourful swing.

Maddie’s hair is blowing in the wind and she is smiling as her mother and father cheer her on enthusiastically.

The toddler does not talk, explained her mom and dad, but she is almost always happy.

“She’s a very happy girl. She’s cuddly. She loves everyone she meets,” said Kilner.

“Everyone who meets her is like, ‘She’s always so happy all the time and so smiley,’ and so we really try to focus on that and really kind of let that guide us,” added Sisnett.

The couple cherish these moments with Maddie, understanding that the future for a child living with SCN8A is unknown.

“There’s no treatment now and there’s no cure,” said Kilner. “Some medications work better than others, but there’s no perfect medication to control it.”

SCN8A is a rare and serious genetic disorder that causes a range of symptoms, including severe epilepsy, developmental delay and other medical challenges.