For the longest time, Stephanie McCabe and Andre Doucette accepted that their six-year-old son Emmett would die young.
The family learned Emmett had Sanfilippo syndrome, a rare genetic disease affecting the brain and nervous system — sometimes referred to as childhood Alzheimer’s because of similar symptoms— just as he was starting preschool.
Children with Sanfilippo experience delayed development before a regression and the eventual loss of their speech and mobility. It is extremely rare. McCabe and Doucette say they know of only one other child in Saskatchewan with it. There is no cure and most people with the disease only live until their mid to late teens.
“We had gone through and accepted the fact that this was going to be Emmett’s life and his outcome,” his father Andre Doucette said. “We were going to invest all the time that we had with Emmett and make the best memories as a family and make him as comfortable and happy as possible.”
Now, a gene therapy treatment currently undergoing an accelerated approval process with the U.S. Food and Drug Administration (FDA) has changed all their plans, he said.
If approved, it would be the first treatment available to kids with Emmett’s type of Sanfilippo syndrome.
“We had to pivot a little bit and become lobbyists, and understand how the government works and how we can … get him this treatment,” Doucette said.
The family and others like them were expecting the gene therapy — which was submitted for accelerated approval — to be approved by the U.S. department in August. But in July, the FDA delayed the process over manufacturing concerns, pushing the potential approval into 2026.
Six to 12 months is “a lot of time” for children with the disease, Emmett’s mom Stephanie McCabe said.
The delay means that children could lose skills and abilities that they would be unable to gain back, she said.
“At some point, maybe the gene therapy wouldn’t be something that would be beneficial to the child, as well, if they’re so far progressed,” she said.
“It’s important for Sanfilippo kids to maintain the skills that they have for as long as possible,” Doucette said.
The family said Emmett never had full speech, but he was building communication skills that he is expected to lose.
“We’re running against the clock,” said Alexey Pchejetski, a researcher specializing in Sanfilippo syndrome at Montreal’s CHU Sainte-Justine hospital.
Pchejetski is the director of the Elisa Linton Sanfilippo Research Laboratory, which studies the syndrome and other metabolic disorders.
He said that while their lab is working on research that would help children like Emmett, treatment options for all types of Sanfilippo syndrome are in the early stages globally and their specific research is still in the pre-clinical phase, a few years away from even being put before Health Canada for approval as a treatment option.
“It’s important to treat the child while the child still doesn’t have symptoms,” Pchejetski said.
Children are frequently only diagnosed with the disease once they become symptomatic around two years old, he said.
“Unfortunately, they are also often misdiagnosed as autistic,” which further delays time-sensitive treatment, Pchejetski said.
At the moment there are only treatments that can help prevent hearing loss, “but nothing that would correct the defect,” he said.
McCabe said the gene therapy wouldn’t reverse the damage that Emmett has already experienced, but studies have shown that gene therapy can greatly improve cognitive abilities.
And while she wouldn’t classify the treatment as a cure, and Emmett most likely wouldn’t have the same life expectancy as a typical child, “it would give him a better quality of life,” McCabe said.
Even once the treatment receives FDA approval, there would be additional steps for Emmett to access it from Saskatchewan.
The company trying to receive FDA approval, Ultragenyx, told CBC News that it has not submitted the gene therapy to Health Canada for approval “at this time.”
The family feels that the gene therapy treatment is Emmett’s best option, currently.
“We have to convince our government that this is something that Emmett needs. There’s nothing in Canada Emmett can have that would give him the quality of life that this gene therapy would,” McCabe said.
“We have to make our case to the government to send us to the U.S.,” she said.
According to the Saskatchewan Ministry of Health’s website, patients could have the full cost of treatment outside the province and Canada covered, but “prior approval is required,” and the ministry will pay “at a rate that the Saskatchewan Ministry of Health considers fair and reasonable after taking into account the location where the insured service is provided.”
The family started that process as soon as they learned the gene therapy treatment was going through an accelerated approval by U.S. officials. They have spoken to their local MLA and met with the Saskatchewan health officials.
They said the process has been positive so far.
“We’ve been leveraging our local contacts in government and everybody has been very responsive,” Doucette said.
There’s still the additional step of how to pay for Emmett’s treatment.
“I imagine that’s gonna be the biggest barrier,” Doucette said. “Somebody has to shell out the money to actually do this treatment.”
Pchejetski, the researcher, said treatment options for diseases like Sanfilippo syndrome are traditionally very expensive.
He said a different gene therapy treatment for a disorder with a similar classification as Sanfilippo syndrome costs around 2 million euros, which is more than $3.2 million.
McCabe said the prospect of treatment “changes the whole grieving process” the family has been dealing with, after long accepting they would have Emmett for a shorter time.
She said from the moment it was confirmed that her son had Sanfilippo syndrome on his first day of preschool, it was like a “switch” in her brain and soul was flipped, motivating the family to make the most of his time with them.
“He didn’t deserve for us to be sad all the time,” McCabe said, “This is his childhood and he’s the happiest kid.”
Now, the focus is on trying to get Emmett the gene therapy treatment, McCabe said, and the idea of a treatment existing but being unable to access it is hard to swallow.
“That is in a way harder than having no treatment at all,” she said.
