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

AW Neill Elementary School in Port Alberni. (NEWS FILE PHOTO)
SD70 chooses new name for AW Neill School in Port Alberni

New name honours Nuu-chah-nulth Peoples’ connection to region

Douglas Holmes, current Alberni-Clayoquot Regional District chief administrative officer, is set to take on that position at the Regional District of Nanaimo come late August. (Submitted photo)
Regional District of Nanaimo’s next CAO keen to work on building partnerships

Douglas Holmes to take over top administrator role with RDN this summer

Ron MacDonald fields questions at a news conference in Halifax on Sept. 27, 2011. THE CANADIAN PRESS/Andrew Vaughan
Finding ‘comfortable’ indigenous monitor tough task in Tofino-area shooting death

Julian Jones case hampered by difficulty finding a civilian comfortable with privacy protocols

Port Alberni RCMP officer in command Insp. Eric Rochette presents longtime community policing volunteer Louie Aumair with a OIC appreciation certificate. (SUBMITTED PHOTO)
Port Alberni RCMP honour longtime volunteer

First responders receive support from broader community

The Dock+ is located on Harbour Road in Port Alberni. (SUSAN QUINN / Alberni Valley News)
PROGRESS 2021: Port Alberni’s food hub still growing a year later

The Dock hopes to open a retail store on Alberni’s busy waterfront

Canadian Prime Minister Justin Trudeau participates in a plenary session at the G7 Summit in Carbis Bay, England on Friday June 11, 2021. THE CANADIAN PRESS/Adrian Wyld
Canada donating 13M surplus COVID-19 vaccine doses to poor countries

Trudeau says the government will pay for 87 million shots to be distributed to poor countries

Premier John Horgan speaks as provincial health officer Dr. Bonnie Henry, right, and health minister Adrian Dix look on during a press conference to update on the province’s fall pandemic preparedness plan during a press conference from the press theatre at Legislature in Victoria, Wednesday, Sept. 9, 2020. THE CANADIAN PRESS/Chad Hipolito
B.C. officials to provide details on Step 2 of COVID reopening plan Monday

Step 2 could allow for larger gatherings and a resumption of recreational travel

Indigenous Services Minister Marc Miller is seen during a news conference, Wednesday May 19, 2021 in Ottawa. THE CANADIAN PRESS/Adrian Wyld
Indigenous child-welfare battle heads to court despite calls for Ottawa to drop cases

Feds are poised to argue against two Canadian Human Rights Tribunal rulings

The Great Ogopogo Bathtub Race has been held in Summerland as a fundraising event. Do you know which Canadian city introduced this sport? (Black Press file photo)
QUIZ: A summer’s day at the water

How much do you know about boats, lakes and water?

Two-year-old Ivy McLeod laughs while playing with Lucky the puppy outside their Chilliwack home on Thursday, June 10, 2021. (Jenna Hauck/ Chilliwack Progress)
VIDEO: B.C. family finds ‘perfect’ puppy with limb difference for 2-year-old Ivy

Ivy has special bond with Lucky the puppy who was also born with limb difference

A million-dollar ticket was sold to an individual in Vernon from the Lotto Max draw Friday, June 11, 2021. (Photo courtesy of BCLC)
Lottery ticket worth $1 million sold in Vernon

One lucky individual holds one of 20 tickets worth $1 million from Friday’s Lotto Max draw

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

“65 years, I’ve carried the stories in my mind and live it every day,” says Jack Kruger. (Athena Bonneau)
‘Maybe this time they will listen’: Survivor shares stories from B.C. residential school

Jack Kruger, living in Syilx territory, wasn’t surprised by news of 215 children’s remains found on the grounds of the former Kamloops Indian Residential School

Most Read