New screening program helps baby with rare disease receive treatment

New screening program helps baby with rare disease A young baby with a rare disease was quickly diagnosed thanks to a new Newborn Screening Ontario test.

TORONTO — It was good news and bad news for an Ottawa family whose baby was diagnosed with a rare degenerative disease in January.

“If Aidan had been born any earlier, or anywhere else, our story would have been very different,” said new mom Amanda Sully.

Her son was diagnosed with Spinal Muscular Atrophy (SMA) at 10 days old, thanks to a new test that became part of Newborn Screening Ontario just two weeks before Aidan was born.

It was devastating news for Amanda and her husband, Adam Deschamps. The couple had been trying to start a family for a while and was delighted at their beautiful baby, but the future looked bleak for him. Children with SMA suffer severe health problems including difficulty feeding and breathing—many don't make it past the age of three.

At four weeks, Aidan was given a dose of Spiraza, the only drug currently approved in Canada for treatment of SMA.

“We literally held our breath as Dr. McMillan injected the drug just below Aidan’s spinal cord,” Deschamps said.

What the couple really wanted was a drug called Zolgensma – known as the most expensive drug in the world. It is a single-shot treatment that restores the gene which SMA babies lack. It is not approved yet in Canada and it costs almost $3 million.

Deschamps says their family was prepared to mortgage their homes and start fundraising – as several other SMA families across Canada have already been doing – when they got word that they could receive the drug under a compassionate release program.

Zolgensma is only offered to children under the age of two and ideally before symptoms begin. Thanks to the screening program, Aidan got the drug at 37 days old. Today, home video showed him dancing to music, climbing stairs and chasing a ball.

“His muscle strength and his development is absolutely normal,” said pediatric neurologist Dr Hugh McMillan, who treated Aidan at CHEO.

Dr. Pranesh Chakraborty, Executive Director of Newborn Screening Ontario, says 145,000 babies are born in Ontario every year and while Ontario is the first province to adopt the SMA screening test, he hopes others follow.

“It is unbelievably satisfying to hear stories like the one today about Aidan and his family,” Chakraborty said.