At first, Saskatoon parents Stephanie McCabe and Andre Doucette thought their young son was showing signs of autism. The diagnosis turned out to be more challenging: Emmett Doucette had developed a rare condition called Sanfilippo syndrome.
Stephanie McCabe (left), Sophie Doucette, Andre Doucette and Emmett Doucette (right) on Emmett’s make a wish trip.
COURTESY: Stephanie McCabe
“We’re just, typical family that had this diagnosis,” McCabe says, reflecting on her son’s condition. “But I think it’s important to you to not let it, take over your life as well. We’re going to live the best life that we can and make as many, many memories as we can.”
Sanfilippo syndrome is a neurodegenerative disease that can cause children to regress in their development, suffer from seizures and movement disorders and experience pain. According to the Cure Sanfilippo Foundation, the life expectancy for most people diagnosed with the condition doesn’t go beyond their 20s.
Sanfilippo syndrome is often referred to as childhood Alzheimer’s or dementia and is considered rare, affecting one in 70,000 births.
“(It’s) a disease involved in breaking down these sugar-coated protein molecules in your body,” says Brian Eames, a professor at the University of Saskatchewan College of Medicine.
“We turn over these molecules a lot during our normal lifetimes. And this, disease… has mutations. These patients have mutations in various enzymes that break down those molecules.”
The syndrome will impact most areas of the body in some way, and research shows regression normally starts around the age of five.
Emmett celebrates his fifth birthday.
Courtesy: Stephanie McCabe
Emmett, who was diagnosed about a year ago, has been lucky, however. He celebrated his fifth birthday earlier this week and has yet to start showing signs of regression.
Emmett in his Sanfilippo Syndrome warrior T-shirt.
Courtesy: Stephanie McCabe
“He’s picking up new songs at age five. The regression is supposed to begin with loss of language, but we’ve seen him picking up, new tunes, new words,” McCabe says, although she adds this doesn’t mean he’s not affected by the condition..
The latest health and medical news
emailed to you every Sunday.
Get weekly health news
“It’s quite typical for Sanfilippo, as it progresses, that sleep disruptions are more common and more extreme. Kids can go days without sleeping.”
McCabe says that while the diagnosis is hard to cope with, the family wants to make the most of the time they have.
Emmett playing in the ocean.
Courtesy: Stephanie McCabe
“You take one day at a time. It’s very overwhelming. But also remember that there’s grief that can exist with joy as well. That’s something that we’re learning.”
Emmet’s family has been sharing his story on social media and has experienced an outpouring of support, including a GoFundMe campaign that has raised over $38,000 since October 2023.
“It’s been awesome to share his story with everyone and just bring awareness because with the awareness is going to become a cure. Not many people have heard about Sanfilippo syndrome. I mean, with only two kids in Saskatchewan, It’s so rare,” McCabe says.
Emmett’s family meets Mickey Mouse at Disney World.
Courtesy: Stephanie McCabe
There no treatments available for Sanfilippo syndrome when Emmett was first diagnosed, but the family remains hopeful.
“When he was first diagnosed. We were told that there was nothing available. And now, almost a year later, there is quite a bit of help out there. We see lots of research going on,” McCabe says.
Emmett’s family wants to remind people to be patient and have an open mind.
Emmett Doucette in a suit before an event.
Courtesy: Stephanie McCabe
“We just want to spread the message to be kind. And you never know what battles somebody is facing. When you see a child not acting typical, to not jump to conclusions. We’re all trying our best, and Emmett, he’s trying his best as well,” McCabe says.