Sam recently became the first Canadian to be successfully treated with gene replacement therapy to cure a rare form of blindness.
His condition is a genetic disorder known as retinitis pigmentosa, which makes it impossible for Sam to see the sky on a cloudy day, and unable to make out shapes in the dark. He had to have lights on always and had trouble seeing his shoes or objects on the floor.
To make things worse, the condition was progressive, meaning things would get worse as he grew older. However, thanks to gene replacement therapy, Sam can now see cloudy skies, shoes, and more.
“I never saw stars before,” he said. “And I also never saw airplanes flying at night.”
Reported by CTV News, the therapy works by placing a copy of the healthy gene into inactivated viruses, which are then injected into the retina. The gene then allows cells to produce the necessary protein to convert light into an electrical signal in the retina in order to provide healthy vision and prevent the progression of the disease.
Since the new gene therapy wasn’t available in Canada in 2019, Sam and his family had to travel to the US to receive the therapy. The good news for Canadians, however, is that the gene therapy got approved by Health Canada this week, meaning it should be available to more Canadian patients soon.