Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

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

‘If Aidan had been born any earlier or anywhere else our story would be quite different’

Amanda Sully had tried to get pregnant for six years, but she’s grateful that her “miracle” son arrived six days after Ontario became the only province to start a newborn screening test that revealed he had a progressive and irreversible disease.

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 said.

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 but the morning after the call 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.

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 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, 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.

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.

The Canadian Press

Like us on Facebook and follow us on Twitter.

Want to support local journalism? Make a donation here.

Health

Get local stories you won't find anywhere else right to your inbox.
Sign up here

Just Posted

The district of Sparwood is seeking feedback on its Recreation Master Plan. (Scott Tibballs / The Free Press)
Non-medical cannabis store proposed for Sparwood

If approved, Elk Valley Cannabis would be the first cannabis business in the district

Natalie Joynes, Theo Hepher, Kai Dedey, and Sophia Becker sit on a blanket enjoying FYAN’s summer youth programming. (Soranne Floarea/ The Free Press)
Job Readiness Workshops available for local youth

Registration is now open for the series of free virtual workshops

A number of Elkford’s youth enjoy the SYS.tem Space. (Photo contributed)
SYS.tem Elkford opens up new youth hang out spot

The SYS.tem Space offers youth access to a wide selection of free indoor and outdoor activities

Kootenay-Columbia MP Rob Morrison speaks during Question Period in the House of Commons. File photo.
MP Morrison calls Keystone XL permit cancellation ‘devastating news’

Kootenay-Columbia MP reacts to the Conservative Party’s removal of a controversial Ontario MP

Interior Health reported 91 new COVID-19 cases in the region Jan. 20, 2021 and three additional deaths. (Jennifer Smith - Morning Star)
95 new COVID-19 cases in Interior Health, two deaths

Another member of Vernon’s Noric House has passed

Toronto Public Health nurse Lalaine Agarin sets up for mass vaccination clinic in Toronto, Jan. 17, 2021. B.C. is set to to begin its large-scale immunization program for the general public starting in April. THE CANADIAN PRESS/Frank Gunn
B.C.’s COVID-19 mass vaccinations expected to start in April

Clinics to immunize four million people by September

The District of Saanich’s communications team decided to take part in a viral trend on Thursday and photoshopped U.S. Senator Bernie Sanders into a staff meeting photo. (District of Saanich/Twitter)
Bernie Sanders makes guest appearance municipal staff meeting in B.C.

Vancouver Island firefighters jump on viral trend of photoshopped U.S. senator

School District 57 headquarters in Prince George. (Mark Nielsen, Local Journalism Initiative Reporter)
Prince George school district settles with sexual abuse victim

Terms were part of an out-of-court settlement reached with Michael Bruneau, nearly four years after he filed a lawsuit

Surrey provincial court. (File photo: Tom Zytaruk)
New COVID-19 protocols set for provincial courthouses

The new rules were issued on Jan. 21, and took effect immediately

Cannabis bought in British Columbia (Ashley Wadhwani/Black Press Media)
Is it time to start thinking about greener ways to package cannabis?

Packaging suppliers are still figuring eco-friendly and affordable packaging options that fit the mandates of Cannabis Regulations

Police in Vancouver looking for male suspect who allegedly spat and attacked a store manager for not wearing a mask, at 7-Eleven near Alma Street and West 10th Avenue just before noon on Dec. 17, 2020. (Vancouver police handout)
VIDEO: Man spits on 7-Eleven manager over mask rule, sparking Vancouver police probe

‘Unfortunately, the store manager sustained a cut to his head during the assault’

The Vancouver-based SAR team successfully rescued two lost snowshoers off of the west side of Tim Jones Peak in the early morning of Monday, Jan. 19. (North Shore Rescue photo)
B.C.’s busiest SAR team raises alarm after 2021 begins with fatality, multiple rescues

‘People beyond ski resort areas of Seymour, Grouse, and Cypress go without cell reception,’ SAR warns

Police are searching for an alleged sex offender, Nicole Edwards, who they say has not returned to her Vancouver halfway house. (Police handout)
Police hunt for woman charged in ‘horrific’ assault who failed to return to Surrey halfway house

Call 911 immediately if you see alleged sex offender Nicole Edwards, police say

A screenshot from a local Instagram account video. The account appeared to be frequented by Mission students, and showed violent videos of students assaulting and bullying other students.
Parents, former students describe ‘culture of bullying’ in Mission school district

Nearly two dozen voices come forward speaking of abuse haunting the hallways in Mission, B.C.

Most Read