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First newborn tested for spinal muscular atrophy in Canada at CHEO hits new milestones

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Amanda Sully and Adam Deschamps with baby Aidan Deschamps. (Photo/Canadian Press)

Amanda Sully tried to get pregnant for six years, and when she finally was able to have a baby, was grateful for a new screening procress that Ontario had just adopted for newborns.

In January, Aidan Deschamps became the first baby in Canada to be diagnosed with spinal muscular atrophy, as part of a new test added to Ontario's newborn screening program.

Sully said she and her husband, Adam Deschamps, were surprised to get a call from Newborn Screening Ontario advising them that their son, who was 10 days old at the time, had tested positive for the genetic neuromuscular condition, which is the most common cause of death in childhood due to an inherited condition.

"If Aidan had been born any earlier or anywhere else, our story would be quite different," Sully said Wednesday on a Zoom call from the family's home in Ottawa, as Aidan squeezed out of his mom's arms before his dad took over and tried to keep up with the energetic child.

"As terrible as the news was, we were so fortunate to find out early because delaying treatment would have meant long-term irreversible consequences for him," Sully explained.

Sully said she was initially worried that her baby may not be able to roll over if he had the illness, but at 10 months, Aidan is healthy, and quite the dancer who loves to throw and chase balls, after starting early treatment.

The couple had never heard of spinal muscular atrophy before, but the morning after the call from Newborn Screening Ontario, they were in the office of Dr. Hugh McMillan, a neurologist at Children's Hospital of Eastern Ontario, a pediatric health and research centre based in Ottawa.

Adam Deschamps said he and his wife held their breath a few days later as their little boy was given an injection of the drug Spinraza just below his spinal cord. The first medication to treat children with spinal muscular atrophy administered through repeated spinal taps was approved by Health Canada in 2017.

Dr. McMillan said the drug, which is paid for to varying degrees in different provinces, increases the amount of an essential protein in order to keep motor neurons and motor nerves alive and without it the progression of the disease is irreversible.

He also applied for and was granted use of a gene replacement therapy on compassionate grounds for Aidan when the boy was five weeks. 

The one-time intravenous treatment worth millions of dollars is one of two medications that Health Canada is considering for approval, with an announcement expected in the coming weeks, said Dr. McMillan, who is also a clinical investigator at the CHEO Research Institute.

It's too early to tell what the little boy's future holds, but he is meeting all of his developmental milestones, Dr. McMillan said.

Dr. Pranesh Chakraborty, chief medical officer of Newborn Screening Ontario, said the province started the program, which tests for 28 conditions, in 1965 and includes all babies born in Ontario and most of Nunavut.

While it is true that newborn screening began in Ontario in 1965 for phenylketonuria (PKU) and 1978 for congenital hypothyroidism (CH), according to Newborn Screening Ontario's website, the program was updated 28 years later in 2006 with the addition of Medium Chain Acyl-CoA dehydrogenase deficiency(MCADD) after much lobbying by affected stakeholders whom had suffered life altering affects for lack of early detection of these kinds of disorders.

Dr. Chakraborty said each province decides on its own whether to screen for certain conditions but the cost for the test that helped Aidan was low because Ontario already had the technology to add it to its existing program.

"I can say from speaking with my colleagues across the country that every province is looking at this and we're hoping that they'll be making decisions soon," he said.

The severity of spinal muscular atrophy depends on when symptoms appear and some children may start showing signs early on when they cannot roll over. 

British Columbia's newborn screening program tests for 24 disorders, a spokeswoman at the Provincial Health Authority said.

The provincial Health Ministry did not respond to requests on whether it would include testing for spinal muscular atrophy as part of its newborn screening program.

Susi Vander Wyk, executive director of Cure SMA Canada, said the organization is working to get all provinces to test for the condition and that Aidan's story based on Ontario's lead should compel all jurisdictions to act.

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