For a long time, Stephanie McCabe and Andre Doucette accepted that her six -year -old son Emmett would die young.
The family learned that Emmett had Sanfilippo syndrome, a rare genetic disease that affects the brain and nervous system, sometimes called infant Alzheimer’s due to similar symptoms, as it began to 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 only know another child in Saskatchewan. There is no cure and most people with the disease only live to their average or late adolescence.
“We had passed and we accepted the fact that this was going to be Emmett’s life and his result,” said his father Andre Doucette. “We were going to invest all the time we had with Emmett and make the best memories as a family and make it as comfortable and happy as possible.”
Now, a gene therapy treatment that is currently subject to an accelerated approval process with the United States Drug and Food Administration (FDA) has changed all its plans, he said.
If approved, it would be the first treatment available for children with the type of Emmett Sanfilippo syndrome.
“We had to pivot a little and become lobbyists, and understand how the government works and how we can … get this treatment,” said Doucette.
The family and others as they expected gene therapy, which was presented for accelerated approval, was approved by the United States department in August. But in July, the FDA delayed the process on manufacturing concerns, pushing the possible approval to 2026.
From six to 12 months it is “a lot of time” for children with the disease, said Emmett’s mother Stephanie McCabe.
The delay means that children could lose skills and skills that could not recover, he said.
“At some point, perhaps gene therapy would not be something that is beneficial for the child, also, if so far they progress,” he said.
“It is important that Sanfilippo Kids maintain the skills that have as long as possible,” Doucette said.
The family said Emmett never had a complete speech, but that he was creating communication skills that he is expected to lose.
Saskatoon tomorrowFinding a cure, anticipating pain and finding joy in small things is the trip that a family of Saskatoon is sailing since his son was diagnosed with a rare disease called Sanfilippo syndrome
A Saskatoon family is sailing around the world of a rare disease called Sanfilippo syndrome. The son of Stephanie McKay and Andre Doucette, Emmett, was diagnosed in 2023. Emmett is now 6 years old, but the condition is terminal. It is often known as “Children’s Alzheimer’s”. There is no cure, but there is a possible treatment in the United States that gives hope to the family. Liam O’Connor de Saskatoon Morning went through meeting Emmett and discover more about the disease of his parents Stephanie and Andre.
Sanfilippo Canadian Syndrome Treatments still in the ‘Laboratory Phase’
“We are running against the clock,” said Alexey Pchejetski, a researcher specialized in Sanfilippo syndrome at the Chu Sainte-Justine Hospital in Montreal.
Pchejetski is the director of the Research Laboratory of Elisa Linton Sanfilippo, who studies the syndrome and other metabolic disorders.
He said that while his laboratory is working on research that would help children such as Emmett, treatment options for all types of Sanfilippo syndrome are found in the early stages around the world and their specific research is still in the preclinical phase, a few years after being placed before Health Canada for approval as a treatment option.
“It is important to treat the child while the child still has no symptoms,” Pchejetski said.
Children are often only diagnosed with the disease once they become symptomatic about two years, he said.
“Unfortunately, often they are also wrongly diagnosed as autistic,” which further delays the sensitive treatment of time, Pchejetski said.
At this time there are only treatments that can help prevent auditory loss “, but nothing that corrects the defect,” he said.
Family American gene therapy with hope improved the quality of life
McCabe said that gene therapy would not reverse the damage that Emmett has already experienced, but studies have shown that gene therapy can greatly improve cognitive skills.
And although he would not classify treatment as a cure, and Emmett would probably not 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 the approval of the FDA, there would be additional steps for Emmett to access it from Saskatchewan.
The company that tries to receive the approval of the FDA, Ultragenyx, told CBC News that it has not presented gene therapy to Health Canada for approval “at this time.”
The family feels that gene therapy treatment is Emmett’s best option, currently.
“We have to convince our government that this is something that Emmett needs. There is nothing in Canada that Emmett can have to give it the quality of life that this gene therapy,” McCabe said.
“We have to present our case to the government to send us to the United States,” he said.
According to the website of the Ministry of Health of Saskatchewan, patients could have the total cost of treatment outside the province and Canada covered, but “prior approval” is required, and the Ministry will pay “at a rate that the Ministry of Health of Saskatchewan considers fair and reasonable after taking into account the location where the insured service is provided.”
The family began that process as soon as they learned that gene therapy treatment was going through an accelerated approval by US officials. They have spoken with their local MLA and met with Saskatchewan’s health officials.
They said the process has been positive so far.
“We have been taking advantage of our local contacts in the government and everyone has been very receptive,” said Doucette.
There is still the additional step of how to pay Emmett’s treatment.
“I imagine that this will be the biggest barrier,” Doucette said. “Someone has to disburse the money to do this treatment.”
Pchejetsky, the researcher, said the treatment options for diseases such as Sanfilippo syndrome are traditionally very expensive.
He said that a different gene therapy treatment for a disorder with a classification similar to that of Sanfilippo syndrome costs about 2 million euros, which is more than $ 3.2 million.
Take the most a short childhood
McCabe said that the treatment perspective “changes the entire grieving process” with which the family has been dealing, after accepting for a long time that there would be Emmett for a shorter time.
He said from the moment it was confirmed that his son had Sanfilippo syndrome on his first preschool day, it was like a “change” in his brain and the soul was overturned, motivating the family to make the most of their time with them.
“He did not deserve to be sad all the time,” said McCabe, “this is his childhood and is the happiest child.”
Now, the approach is trying to make Emmett the treatment of gene therapy, McCabe said, and the idea of an existing treatment, but cannot access it, is difficult to swallow.
“That is more difficult for not having any treatment,” he said.
