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'I never saw stars before': Gene therapy brings back 8-year-old Canadian boy's sight

10/15/2020

 
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For the thousands of Canadians at risk of blindness, eight-year-old Sam is a beacon of hope.

He is the first Canadian to be treated with gene replacement therapy for a rare form of blindness which had left Sam unable to see sky on a cloudy day, and unable to make out shapes in the dark.

“Sometimes you have to walk in the night and I couldn’t see things and you bump into things,” Sam told CTV News.

He had to have lights on always, and had trouble seeing his shoes or objects on the floor. And the condition was progressive, meaning things would get worse as he grew older -- a daunting prospect when there was no treatment available.

But now he can see cloudy skies, shoes and more. The best part of his improved vision, says Sam, are the stars at night.

“I never saw stars before,” he said. “And I also never saw airplanes flying at night.”

He was diagnosed after birth with a genetic disorder called retinitis pigmentosa, a form of genetic retinal degeneration resulting from mutations in the RPE65 gene.

“You lose perception of light,” Dr. Elise Heon, of Sick Kids Hospital, explained to CTV News. “You end up in darkness and [it’s] slowly progressive, it's relentless, your visual field shrinks and shrinks and shrinks and shrinks.”

Back in 2019, Sam and his family travelled to the U.S to get the new gene therapy because it wasn’t available in Canada yet.

His mother, Sarah Banon, noticed changes quickly.

“About a week later, I noticed he could get dressed by [himself],” she said. “He could get his shoes on by himself, independently.”

His improvements have continued in the year since he first received the gene therapy.

“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.”

With the approval of this gene therapy in Canada, doctors are hoping to be able to use it on more patients who qualify -- and the earlier the better.

Dr. Peter Kertes, a vitreo-retinal surgeon and Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre, told CTV News that the approval of the therapy is “fantastic.”

“This is a huge breakthrough,” he said. “Most of the advances that we have in medicine are incremental. Every once in a while, once in a generation, something revolutionary like this comes along that really changes the course of therapy.”

“This is the tip of the iceberg. I think this is a vector that will prove to be very effective and holds great promise,” he said. “I think many people who are living with blindness or facing blindness, have much to look forward to. I think we're on the cusp of a revolution in this group of diseases.”

https://www.ctvnews.ca/mobile/health/i-never-saw-stars-before-gene-therapy-brings-back-8-year-old-canadian-boy-s-sight-1.5145830

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    Just someone trying to highlight the positive news amongst a sea of negativity.

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