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

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.

Maddie is one of only around 500 children in the world with the disorder.

“That life that you thought for your girl wasn’t going to be the case. It’s going to be a lot different,” said Kilner, recalling the day the family received Maddie’s diagnosis last June.

At four months old, Maddie suffered her first seizure. Since then, she’s had dozens more.

“She was having all these seizures. But you know what? She was still hitting all of her milestones, so they thought the chances of finding anything on a genetic testing report is extremely low. So we did it, but we weren’t expecting to find any results,” said Sisnett.

When the couple learned the cause of the seizures, it was a shock.

“It just didn’t even feel real for Maddie, who is just like the happiest, sweetest, smiley … and she tries so hard and she’s just amazing,” said Sisnett.

Not only is SCN8A a rare disease, but it’s also a new one.

The SCN8A gene was discovered in humans by geneticist Dr. Michael Hammer in Arizona in 2011 after he identified the gene in his own daughter, Shay Emma Hammer, soon after her death.

“My daughter was the first patient with this disease.… Since she was the first one, I only knew her and I only knew her disease,” he said.

Hammer’s daughter had been diagnosed with infant-onset epilepsy, but her specific symptoms and development were not typical of any existing or known forms of epilepsy.

“I, as a parent, especially as a scientist, just was troubled by the fact that we didn’t know what it was,” he recalled.

Hammer set out to understand the cause of his daughter’s illness.

“We discovered the disease gene in my lab,” he said. “Once it was discovered and published, I think a genetic testing company put it on a panel for epilepsy and then other families started learning that they also had SCN8A epilepsy, and so I started getting emails and then decided to start an online registry.”

Hammer pointed out that families worldwide now have a community so they can share their experiences and “not feel so isolated.”

On top of dealing with Maddie’s condition, including making sure she takes the full 16 syringes of medication she needs every day, her parents have taken on the mammoth task of raising enough money to fund research into her illness at SickKids Hospital in Toronto.

“The study is going to look at banked DNA and through that study, hopefully help develop better treatments for Maddie and other families,” said Sisnett. “SCN8A is such a serious disorder that there must be a way that we can make things better.”

Physician-scientist Dr. Gregory Costain, who specializes in the diagnosis of rare genetic conditions in children at SickKids Hospital, pointed out there are many benefits to researching SCN8A.

“To better understand why it is that different people who have this condition can experience very different outcomes and be on very different trajectories in terms of development,” said Costain. “By better understanding that variability, we think that we’ll get better insights into why this condition causes illness and better insights into epilepsy in general.”

Costain noted, better understanding the specific cause of the disorder would allow for more tailored and personalized treatments for patients.

“The long-term goal for Maddie is the same long-term goal we have for most kids we care for at the hospital with rare genetic conditions, which is to advance our understanding of what to expect in the hopes of them developing specialized genetic therapies or personalized treatments that are actually going to change outcomes,” said Costain.

For now, Maddie attends daycare, on top of many different therapies to help her stay active and develop.

Her parents originally set a goal of $75,000 on their website to support the research study and have already surpassed that mark.

The couple are now hoping to raise $100,000.

“Hopefully it’ll really have a big impact on Maddie and her life and then the lives of other families,” said Sisnett.

Back at their home, Maddie is using a tiny walker to move slowly through the backyard.

Her mother is supporting her body, while her father is kneeling down, watching intently.

Maddie is smiling while her parents encourage her every step of the way.