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Lack of stem cell donor diversity a challenge for Alberta baby with rare disease

An Alberta family is urging more Canadians to join the stem cell registry, particularly those of mixed race and minority ethnic backgrounds, after their son was diagnosed with a rare genetic disease.

Seven-month-old Jude Lafleur needs a life-saving stem cell transplant due to chronic granulomatous, a disease that prevents white blood cells from fighting off bacterial infections.

“We were shocked when we got the diagnosis, really. We really didn’t know the extent of it,” Jude’s mom Nelia Lafleur told CTV News. “You’re sad because you know he’s going to have to go through a lot, and that’s hard as a mom.”

An infection can make Jude seriously sick, although Jude’s parents have been managing his disease with medication. With a stem cell transplant from a matching donor, chronic granulomatous is curable, but none of Jude’s family members qualify.

“With the transplant, he has theoretically just as good a chance as anyone else to live in a nice long life, and that’s what we like to focus on,” Brennan Lafleur, Jude’s dad, told CTV News.

Jude’s ancestry makes it far more difficult to find a match. His father is of Metis and Ukrainian background, while his mom’s side of the family is Portuguese.

Canadian Blood Services has roughly half a million people on its donor registry, but most are white. For Canadians of Northern or Western European ancestry, they have about a 75 per cent chance of finding a match. But for everyone else, the odds of finding a donor can be as low as 20 per cent.

“If patients happen to come from different and more diverse ethnic backgrounds to pronounce history, there is increasing difficulty in finding matches for them,” Dr. Matthew Seftel, a physician with Canadian Blood Services, told CTV News.

At any given time, Seftel says there’s around 800 people in Canada in need of a stem cell. While a small number of these people may be able to find a match within their family, around 75 per cent will have to rely on donors on the registry.

“The solutions are to ensure that the stem cell registries of volunteers donors are very broadly diverse from an ancestry point of view. And of course, the more donors the better,” Seftel said.

Those who are between the ages of 17 and 35 and fall within certain weight and height requirements are eligible to add themselves to Canada’s national stem cell registry. You can sign up on the Canadian Blood Services website.

After signing up, you’ll receive a self-swabbing kit as well as instructions on how to swab your cheek and mail back your sample.

If you’re a match for a patient, you would undergo surgery under anesthesia to extract a bone marrow sample, although the vast majority of people on the registry won’t ever be called up for a donation.

“But in the event that you do get a call, it’s basically to change or save someone’s life,” Brennan said.

View original article here Source

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