Montreal family's three-year-old with rare genetic disease finds hope at Neurological Institute

Gurmoh Singh Gill is three years old, loves fire trucks, and has a smile that lights up the room. He's also the only child in Canada with his specific variation of hereditary spastic paraplegia—a rare genetic disease that will progressively strip away his ability to walk, talk, and think.

His parents, Stalinjeet and Navpreet Gill, both dentists from Surrey, B.C., have raised more than $2.6 million through a GoFundMe campaign and radio-thon fundraiser to fund research into a cure. They've spent the summer traveling across Canada to raise awareness and support. Montreal was their 10th stop on the journey from Vancouver to Ottawa.

Their destination was the Montreal Neurological Institute—the Neuro—where researchers are developing a gene therapy that could change Gurmoh's trajectory. His particular condition, caused by a de novo mutation called SPAST c.1496 G>A (p.Arg499His), has no approved therapy. Government funding for gene therapy research on his specific mutation is largely unavailable because he is the only known case in Canada.

Dr. Ziv Gan-Or, director of clinical research at the Neuro, said the therapy works differently from traditional drugs. "We are going to change the mutation back to normal," he said. The Neuro is collaborating with University of California Berkeley to develop the DNA-editing machinery, which will then be rigorously tested before clinical trials. Dr. Gan-Or has been discussing the timeline with Health Canada to avoid delays.

For Gurmoh's parents, the research represents what they lacked before: hope. "We were left on our own that there is no hope, no answer, no single drug we can use for our child," Navpreet said. "But this is where things become possible and you start seeing that ray of hope."

Stalinjeet points out that Gurmoh's disease is a window into treating many others. "Eighty per cent of rare diseases are neurological and genetic," he said. If researchers develop this therapy for his son's mutation, they could apply the same science to 80 per cent of Canada's 3.2 million people living with rare diseases. The family will present thousands of letters they collected from supporters to the Prime Minister's office, framing them as "hope" that cannot wait.