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

Downtown Revelstoke. (Liam Harrap/Revelstoke Review)
COVID-19 holds steady in Revelstoke at 16 new cases

The numbers are from Jan. 10 to 16

The Stoked Cubs U11 girls hockey team is the first girls team in Revelstoke in a long time. (Submitted)
Revelstoke’s girls hockey team skating towards $100,000 competition

The U11 team pitched support for the food bank in a submission to the Good Deed’s Cup

Calls for potential overdoses in B.C. spiked in 2020, especially in the Okanagan - Shuswap. Pictured above is a BCEHS re-enactment of paramedics attending an overdose. (BCHES)
Overdose calls spike in 2020 across the Okanagan – Shuswap

Stats show every major community in Okanagan - Shuswap increased in calls for potential overdoses

The BC SPCA is adapting its fundraising after cancelling events due to COVID-19 restrictions. (Twila Amato - Black Press Media)
BC SPCA gets creative with fundraising as pandemic continues

The non-profit’s in-person fundraising events all had to be cancelled due to COVID-19 restrictions

Vancouver Canucks’ Travis Hamonic grabs Montreal Canadiens’ Josh Anderson by the face during first period NHL action in Vancouver, Wednesday, Jan. 20, 2021. THE CANADIAN PRESS/Jonathan Hayward
Horvat scores winner as Canucks dump Habs 6-5 in shootout thriller

Vancouver and Montreal clash again Thursday night

Interior Health has declared the Cariboo Chilcotin a community cluster. (Angie Mindus photo)
Interior Health declares Cariboo Chilcotin region a COVID-19 cluster, 215 cases since Jan. 1

Most cases are related to transmission at social events and gatherings in Williams Lake

Vernon Fire Rescue Services responded to a single-vehicle rollover Wednesday, Jan. 20, 2021, after a vehicle came into contact with a pedestrian light pole at Kalamalka Lake Road and 14th Avenue. (Brendan Shykora - Morning Star)
Minor injuries in rollover after vehicle hits Vernon crosswalk pole

The vehicle flipped onto its side, closing Kalamalka Lake Road

Join Black Press Media and Do Some Good
Join Black Press Media and Do Some Good

Pay it Forward program supports local businesses in their community giving

Penticton city council heard from Dhorea Ramanula, of Paid Employment for People with Lived Experiences Tuesday, Jan. 19. Ramanula’s organization has operated public washrooms in Kelowna staffed by community support workers since April, she says Penticton could benefit from a similar facility. (Michael Rodriguez - Kelowna Capital News)
Penticton interested in new public washroom concept to combat vandalism

Public washrooms with on-site support staff have been operating in Kelowna since April

Canada Post had remove a lot of letter boxes around Penticton after they were vandalized. This letter box at the United Church on Main St. remains unscathed. (Monique Tamminga Western News)
Street mailbox vandals strike Penticton drop boxes

Canada Post had to remove a bunch of the vandalized units

Esa Carriere, 23, was the victim of a 2018 Canada Day homicide. (File)
Youth sentenced in Kelowna Canada Day killing

Young woman pleaded guilty to lesser assault charge, sentenced to 15-month intensive support and supervision program

Most Read