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

Just Posted

Nurses at the Cowichan District Hospital are thanking the community for following the health protocols during the ongoing COVID-19 pandemic. Pictured from left are nurses Jacqueline Kendall, Melissa Bustard and Heidi Ferris. (Robert Barron/Citizen)
Pandemic year like no other, Cowichan nurses say

May 10-16 is National Nursing Week

Island Health’s new Wellness and Recovery Centre at 5878 York Rd. is now planned to be open in the fall. (File photo)
Wellness and Recovery Centre now to open in the fall

Three community dialogues scheduled for May

B.C. Centre for Disease Control data showing new cases by local health area for the week of May 2-8. (BCCDC image)
Vancouver Island COVID-19 local case counts the lowest they’ve been all year

On some areas of Island, more than 60 per cent of adults have received a vaccine dose

A nurse gets a swab ready to perform a test on a patient at a drive-in COVID-19 clinic in Montreal, on Wednesday, October 21, 2020. THE CANADIAN PRESS/Paul Chiasson
Island’s daily COVID-19 case count drops below 10 for just the second time in 2021

Province reports 8 new COVID-19 cases on Vancouver Island Wednesday

Before you take on a pet, make sure you want to have it for life. (Sarah Simpson/Citizen)
Editorial: A pet is a lifetime commitment

Tons of people are getting pets during the pandemic, some for the first time

Prince Rupert was one of the first B.C. communities targeted for mass vaccination after a steep rise in infections. Grey area marks community-wide vaccine distribution. (B.C. Centre for Disease Control)
B.C. tracks big drop in COVID-19 infections after vaccination

Prince Rupert, Indigenous communities show improvement

The bodies of Carlo and Erick Fryer were discovered by a local couple walking on a remote forest road in Naramata on May 10. (Submitted)
Kamloops brothers identified as pair found dead near Penticton

The bodies of Carlo and Erick Fryer were discovered by a local couple walking

Municipal governments around B.C. have emergency authority to conduct meetings online, use mail voting and spend reserve funds on operation expenses. (Penticton Western News)
Online council meetings, mail-in voting option to be extended in B.C.

Proposed law makes municipal COVID-19 exceptions permanent

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

A nurse prepares a dose of the COVID-19 vaccine in Kelowna on Tuesday, March 16. (Phil McLachlan/Black Press)
British Columbians aged 20+ can book for vaccine Saturday, those 18+ on Sunday

‘We are also actively working to to incorporate the ages 12 to 17 into our immunization program’

The AstraZeneca-Oxford University vaccine. (AP/Eranga Jayawardena)
2nd person in B.C. diagnosed with rare blood clotting after AstraZeneca vaccine

The man, in his 40s, is currently receiving care at a hospital in the Fraser Health region

Canada’s demo Hornet soars over the Strait of Georgia near Comox. The F-18 demo team is returning to the Valley for their annual spring training. Photo by Sgt. Robert Bottrill/DND
F-18 flight demo team returning to Vancouver Island for spring training

The team will be in the Comox Valley area from May 16 to 24

Saanich police and a coroner investigated a fatal crash in the 5200-block of West Saanich Road on Feb. 4, 2021. (Devon Bidal/News Staff)
Police determine speed, impairment not factors in fatal Greater Victoria crash

Driver who died veered across centre line into oncoming traffic for unknown reason, police say

Ladysmith RCMP safely escorted the black bear to the woods near Ladysmith Cemetary. (Town of Ladysmith/Facebook photo)
Bow-legged bear returns to Ladysmith, has an appointment with the vet

Brown Drive Park closed as conservation officers search for her after she returned from relocation

Most Read