‘No cure’: The Toronto family of toddlers struggling with rare, new illness raises funds for research

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

Maddie’s hair is blowing in the wind and she smiles while her mom and dad cheer on her enthusiastically.

The toddler does not speak, her mother and father explained, but she is almost always happy.

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

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

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

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

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

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

“The life you thought for your girl would not be the case. It’s going to be very different,” Kilner said, recalling the day the family received Maddie’s diagnosis in June last year.

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

“She had all these seizures. But you know what? She still reached all her milestones, so they thought the chances of finding anything on a genetic test report were extremely low. So we did, but we did not expect to find any results. , ”Said Sisnett.

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

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“It just did not even feel right for Maddie, who is like the happiest, cutest, smiling … and she tries so hard and she’s just amazing,” Sisnett said.

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

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

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

Hammer’s daughter had been diagnosed with infantile 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, was just worried about the fact that we did not know what it was,” he recalled.

Hammer sat down to understand the cause of his daughter’s illness.

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“We discovered the disease gene in my lab,” he said. “When it was first 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 then I started getting emails and then decided to start an online registry. “

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

In addition to managing Maddie’s condition, including making sure she takes the full 16 injections of medication she needs each day, her parents have taken on the huge task of raising enough money to fund research into her illness at SickKids Hospital. in Toronto.

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

Medical scientist Dr. Gregory Costain, who specializes in diagnosing rare genetic conditions in children at SickKids Hospital, pointed out that there are many benefits to researching SCN8A.

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“To better understand why it is that different people who have this condition can experience very different outcomes and be on very different paths in terms of development,” Costain said. “By better understanding this variation, we believe we will gain better insight into why this condition causes disease and better insight into epilepsy in general.”

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Costain noted that a better understanding of 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 children we care for in the hospital with rare genetic conditions, which is to advance our understanding of what to expect in the hope that they develop specialized genetic therapies. or personalized treatments that are actually going to change outcomes, ”Costain said.

So far, Maddie is in day care, on top of many different therapies to help her stay active and develop.

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

The couple now hopes to raise $ 100,000.

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

Back in their home, Maddie uses a small walker to move slowly through the backyard.

Her mother supports her body while her father kneels down and looks intently.

Maddie smiles as her parents encourage her every step of the way.

© 2021 Global News, a division of Corus Entertainment Inc.

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