‘He’s the only child living with CLN2 in Saskatchewan’: community rallies for 4-year-old with rare disease
A four-year-old Regina boy is one in a million after being diagnosed with a rare disease, the only child living with the rare and fatal disease in Saskatchewan.
Just two years ago, Theo was like any toddler. He liked to spend his days playing in the park. By all accounts, he was a normal, healthy little boy.
Last year his abilities began deteriorating. Starting with seizures, his parents noticed Theo was having trouble with his speech and motor skills.
“We worked on that for about a year but things never really got better,” said his father, Mike Stumph.
In June, the news came after months of medical appointments and genetic testing.
“I couldn’t have imagined anything so awful,” said his mother, Heather Leask.
“When [the doctor] told us his seizures would get worse, he would stop walking, he would stop eating, he would go blind, to live in a vegetative state and then die before he’s a teenager I couldn’t believe it.”
Theo was diagnosed with CLN2 Batten Disease, a rare neurodegenerative disease that causes children to experience seizures, blindness, loss of motor function and dementia.
“It’s hard to come to terms with it you question yourself why is this happening to me,” Stumph said. “It’s sort of a form of grief, you have to sort of get through the dark days and find a way to keep going.”
Theo is just the 14th Canadian to be diagnosed with the disease. There are fewer than 500 cases worldwide.
The only treatment is an enzyme replacement therapy, Brineura, which was FDA approved just two years ago. Until now, it’s never been offered in Saskatchewan.
“Just in the last several weeks the government of Saskatchewan has approved this treatment and accepted using this particular drug,” Stumph said.
Last month, Theo underwent surgery to place a device in his head which allows him to receive the treatment every two weeks. While it’s not a cure, it’s supposed to stall the progression of the disease and may help control his seizures.
“We want to hopefully maintain the skills that he has right now,” Stumph said.
Moving forward, the couple hopes gene therapy will one day provide a cure; something currently being researched in labs around the world.
“We know that if gene therapy is ever available for him in the next couple of years it would be extremely expensive,” Leask said.
Now the community is coming together, raising more than $13,000 through Theo’s Challenge. Funds needed, the family says to help with the day to day and hopefully one day fund a cure.
“It allows us to hope that a big cure in the future will be possible for him,” Leask said.
A future full of uncertainty, as the family puts one foot in front of the other, living one day at a time.
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