A doctor at B.C. Children’s Hospital says he was delighted to tell one of his patients that he had been cured of his condition.

Nineteen-year-old Kelowna, B.C., resident Ty Sperle was diagnosed at the age of five with chronic granulomatous disease.

“The helpful way to think about it is that we’re surrounded by bacteria and funguses and other things that can infect us,” Dr. Stuart Turvey, a pediatric immunologist at B.C. Children’s Hospital and a professor of pediatrics at UBC, told Global News.

“We have an immune system that I like to think of as a suit of armour that protects us and because of Ty’s issue, he really had a big hole in that suit of armour. And so different bacterial or fungal infections could sneak in really at any time and cause serious or even life-threatening infections. So it’s a tough disease to live with. People with this disease don’t live long healthy lives.

Turvey said that over the years, Sperle has had to take pills, antibiotics and antifungals in an attempt to boost his immune system, but he has still battled some very serious infections that are hard to treat and get under control.

“It’s a disease that I think you’re always looking over your shoulder, wondering, is today the day that that infection is going to sneak in?” he said.

Turvey said there have been other treatments in the past for chronic granulomatous disease, involving hematopoietic stem cell transplantation, or a bone marrow transplant, but only if there is an optimal healthy donor and Sperle didn’t have one.

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When Turvey heard about a clinical trial by U.S.-based Prime Medicine being offered at a limited number of sites, he jumped at the chance to register Sperle.

The only site in Canada offering the trial was Montreal’s Sainte-Justine University Hospital.

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“I think one of the defining things about what we do at B.C. Children’s Hospital, and particularly in immunology, is have these very large global networks,” Turvey said.

“And so we are very connected globally. And I knew that there had been plans in the works for many years to start what we call a gene therapy trial for Ty’s condition. And so I think kept abreast of that and then I think it also shows that tackling these problems can’t be just one hospital or one province or even one country.”

Turvey described the process of curing Sperle involved changing his DNA.

“He was born with that, you could think of that like a spelling mistake that meant that his immune system wasn’t constructed properly and this prime editing technique is a little bit like a word processor, where they can go in and correct that spelling mistake in Ty’s very own cells and then return those cells to Ty’s body,” he said.

“And so he now has corrected cells that are his cells. So they’re not going to attack his body or they’re not going be rejected by his body. So this is really the ultimate treatment for this type of condition.”

Turvey said this is what pediatricians dream about — identifying life-threatening conditions and being able to cure them.

“The success of Ty’s treatment, this curative miracle, really builds on decades, even centuries of science research,” he said.

“We understood DNA, then we were able to sequence the human genome about 20 years ago. And now we’re in the era of being able to rewrite and edit that genome. And this technology that Ty benefited from was something that we call CRISPR-Cas9, or a version of that CRISPR technology that won the Nobel Prize quite recently.”

Turvey added that he is delighted that Sperle can now just go and live his life.

“For me, it means that I don’t have to worry with Ty about all those problems that could come down the line,” he said.

“So I can see Ty as a friend and watch him grow up as a healthy man and I don’t have to worry about all those potential difficulties. So yeah, I’m happy not to have to be Ty’s doctor anymore because he doesn’t have chronic granulomatous disease.

“I’d like to be his friend.”

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Ty Sperle says he felt “insane shock” after learning he’d been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

The B.C. man says he’d started that day last year feeling hopeless, but the news he was cured filled him with indescribable happiness.

Sperle is the first person known to have received and be cured by a treatment known as “prime editing,” in a breakthrough by U.S.-based Prime Medicine reported in the peer-reviewed New England Journal of Medicine last December.

The 19-year-old, who lives in Kelowna, B.C., had been diagnosed with chronic granulomatous disease around age five, compromising his immune system.

Dr. Stuart Turvey, a pediatric immunologist who treated Sperle for more than a decade during his stays at BC Children’s Hospital in Vancouver, says the disease leaves patients susceptible to infections that can turn serious, even fatal.

“People with this disease don’t live long and healthy lives,” Turvey says.

But the sequencing of the human genome has allowed researchers to identify “spelling” mistakes in people’s DNA, he says, and “the era we’re really in now is about translating those fundamental discoveries to helping patients.”

In a statement issued by the hospital, Turvey says he “jumped” at the opportunity to register Sperle for the clinical trial, which was offered at a limited number of sites. The only one in Canada was Montreal’s Sainte-Justine university hospital, he says.

Prior to the gene-editing treatment, which Turvey calls a “miracle,” he says Sperle was taking antibiotics and antifungal medications daily to help protect him.

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“But that’s not perfect,” he says. “So every day there was a possibility sort of hanging over (Sperle) and his family that some serious infection might sneak in.”

Other patients with the same disease may undergo a combination of chemotherapy and a bone-marrow transplant to effectively wipe out their compromised immune system and build a new one using cells from a healthy donor, Turvey says.

“But not everyone has an optimal donor to give those healthy cells, and (Sperle) was in a position where there was no good donor,” he says.

Chronic granulomatous disease is rare, he says, with just a handful of diagnoses over the two decades Turvey has worked at the hospital.

The gene-editing treatment involved extracting Sperle’s own cells, fixing the “spelling mistake” and inserting the cells back into his body, where they multiplied, overriding his cells that hadn’t been working properly, Turvey says.

“What that meant was, you know, his body wasn’t going to reject those cells, those cells weren’t going to attack his body because they were his cells, just fixed up.”

Turvey says it’s a “dream come true” for his patient to be free of symptoms.

Sperle, who’s now a second-year science student at the University of B.C.’s Okanagan campus, says he’d been living with constant uncertainty.

Being cured of the disease means he no longer has to live in fear of developing a serious or life-threatening infection, Sperle says.

“I do like camping as well and you know, it was a risk before, like there’s lots of bacteria in the woods … so now I can do that without having that risk,” he says.

“I was on a regimen of pills and all those are gone, so I don’t have to take medication anymore, which is just amazing,” he adds.

Sperle says he was “extremely nervous” to be the first patient to undergo the treatment.

“When they put the transplant thing inside me, I was super stressed out, unimaginable stress,” he told The Canadian Press in an interview.

But he had confidence in his doctors, he says.

Sperle says his mother was with him at the Montreal hospital following the gene-editing treatment, but she wasn’t in the room when he first heard he was cured.

She reacted with “instant tears” of happiness when he told her, he says.

Sperle says the success of his treatment can provide hope for others with genetic diseases, especially as the technology advances in years to come.

Turvey says certain diseases may be individually rare, but considered in the aggregate, they’re common. “For us, at BC Children’s Hospital, we estimate that about one in three admitted to hospital actually has a rare disease.”

He says Sperle’s case proves the gene-editing technology can be a cure. But it’s not yet routinely available for patients.

“The next (step), and these are complex steps, is to work out how to deliver this within our various health-care systems, and that’s still an ongoing effort.”

In the statement issued by BC Children’s Hospital, the provincial health minister, Josie Osborne, says Sperle’s successful treatment is a “milestone” that shows the power of public health care, research and global collaboration.

“This gives hope to families facing rare conditions and shows how smart investment in science can lead to life-changing care.”