‘No cure’: Toronto family of toddlers struggling with 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 colorful swing.

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

The toddler doesn’t speak, her mom and dad explained, but she’s almost always happy.

“She is a very happy girl. She is cuddly. 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’re really trying to focus on that and be guided by that,” Sisnett added.

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

“There is no cure now and there is no cure,” Kilner said. “Some drugs work better than others, but there is no perfect drug to control them.”

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

Maddie is one of 500 children in the world with the disease.

“This life that you thought for your daughter was not going to be. It will be very different, ”said Kilner, recalling the day the family was diagnosed with Maddie last June.

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

“She had 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 test report were extremely low. So we did it, but we didn’t expect to find results, ”Sisnett said.

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

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

SCN8A is not only a rare disease, it is also new.

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

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

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

“I, as a parent, especially as a scientist, was just confused that we didn’t know what it was,” he recalls.

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

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“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 to learn that they also had epilepsy. SCN8A So I started receiving emails and then decided to set up 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 caring for Maddie’s condition, including making sure she takes the 16 full syringes of medication she needs each day, her parents have taken on the colossal task of raising enough money to fund researching her illness at SickKids Hospital in Toronto.

“The study will examine the DNA in the bank and, through this study, will hopefully help develop better treatments for Maddie and other families,” Sisnett said. “SCN8A is such a serious disorder that there has to be some way to improve it. “

Physician-researcher Dr Gregory Costain, who specializes in diagnosing rare genetic diseases in children at SickKids Hospital, pointed out that there are many benefits to researching SCN8A.

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“To better understand why different people with this disease can experience very different outcomes and follow very different developmental trajectories,” said Costain. “By better understanding this variability, we believe that we will get better information about why this disease causes disease and better information about epilepsy in general.”

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

“The long-term goal for Maddie is the same long-term goal that we have for most of the children we take care of in hospital with rare genetic diseases, which is to advance our understanding of what to expect. expect in the hope that they will develop specialized genetic therapies, or personalized treatments that will actually change the results, ”said Costain.

For now, Maddie attends daycare, in addition to many different therapies to help her stay active and thrive.

His parents had initially set a goal of $ 75,000 on their website to support the research study and have already surpassed this mark.

The couple now hope to raise $ 100,000.

“I hope this really has a big impact on Maddie and her life and then the lives of other families,” Sisnett said.

Back home, Maddie uses a small walker to slowly move around the backyard.

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

Maddie smiles as her parents cheer her on every step of the way.

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