Sam is eight years old and the first Canadian to go through gene replacement therapy for his blindness.
He was diagnosed with retinitis pigmentosa, which affects around one in 4,000 Canadians. The genetic disorder causes a person to lose perception of light, which makes getting around in darkness incredibly challenging. For example, Sam has to have the lights on all the time and has difficulty seeing his shoes or other items on the floor.
“I never saw stars before,” he told CTV News. “And I also never saw airplanes flying at night.”
Sam’s condition was progressing, until Luxturna was developed by Spark Therapeutics, a United States pharmaceutical company. The therapy works by taking a copy of a healthy gene and placing it into inactivated viruses, which are then put into a vaccine to help the immune system prepare for infection. The gene assists cells so they produce the protein needed to convert light in the retina.
Sam and his family attempted to travel to the United States for the therapy and had an opportunity when it became available in Canada. Now the therapy is being offered to other children. Sick Kids Hospital currently has 29 children with the gene mutation who are receiving treatment with the drug. The earlier the condition is caught, the easier it is to retain sight and prevent the disease to progress. Currently, the therapy is under review by the Canadian Agency for Drugs and Technologies in Health, as well as Institut national d’excellence en santé et en services sociaux. Based on its price tag in the United States, the drug could cost more than $1 million in Canada, which would make it one of the most expensive treatments in the country.
For Sam and his family, however, it’s worth it.
“He is so much more confident,” his mother told CTV News. “Like getting dressed by himself, matching clothes, doesn’t have to have things enlarged. Being able to [see], even when it’s dark outside, no lights on and it is a cloudy day. He would have to, at school, keep the lights on. Now he is able to function as a normal child.”