Rare genetic disease: saved by blood donation from Australia

Rare genetic disease: saved by blood donation from Australia

A 28-year-old man with a rare genetic disorder who can now have an “almost normal” life thanks to a cord blood transplant wants to raise awareness about the importance of donating blood products.

“I am here today thanks to the donors. I owe them my life,” Jeff Arsenold met at Levi’s Newspaper.

The boy's mother, Brenda Bourgeois, now 28, didn't suspect the ordeal that awaited them when she gave birth to her son in 1995.

The diagnosis came 11 months later, only after several trips to Montreal Children's Hospital because there were no specialists on the North Shore.



Jeff Arsenault and his mother, Brenda Bourgeois.

Photo by Stevens LeBlanc

Jeff suffered from Fanconi anemia, a rare genetic disease that affects 1 in 350,000 people in Canada and is defined by a defect in DNA repair.

It presents a wide variety of symptoms such as deformity of hands and arms, hearing loss, bone marrow deficiency, heart defects and predisposition to certain types of cancer.

Grow like no other

“When I heard the news, it was a shock. At that time, the chances of reaching adulthood with this disease were only 40%,” recalled M.me Capitalism.



Suffering from a rare disease, Jeff Arsenault benefited from a cord blood transplant from Australia, his

Jeff Arsenault, age 5, in 2001, underwent a cord blood transplant that would allow him to improve his living conditions.

Photo courtesy of Brenda Bourgeois

A fight began for Jeff to receive a compatible bone marrow transplant. But it was ultimately cord blood donation, a little-known initiative in the early 2000s, that saved him.

It is an option equivalent to a pediatric marrow transplant because it contains the same blood components, but in smaller amounts.

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This miracle happened to a child born in Australia in 2001. After a transplant and countless blood transfusions, Jeff Arsenault's life improved significantly.



Suffering from a rare disease, Jeff Arsenault benefited from a cord blood transplant from Australia, his

In addition to the transplant, the child had to undergo fifty blood transfusions to ensure the operation was effective.

Photo courtesy of Brenda Bourgeois

“Today, I can thrive in life like no other. The only difference is that I have to ask for help to get the very tall plates,” laughs Mr Arsenault.

A small gesture that matters

M realized the importance of donating blood that saved his sonme Bourgeois has an appointment every week at Hema-Quebec to donate plasma. A bone marrow donor is also registered with the bank.

If she and her son decide to tell their story, they want to raise awareness about the importance of this small gesture that can make a big difference.



Suffering from a rare disease, Jeff Arsenault benefited from a cord blood transplant from Australia, his

The mother and son want their story to inspire people to donate blood generously.

Photo by Stevens LeBlanc

“Every chance I get, I talk about Jeff to people who are hesitant to donate blood, giving them a concrete example of the results of a very small donation,” says M.me Capitalism.

The Globule Blood Donation Center in Sainte-Foy, which celebrated its 20th anniversary on Thursday, is inviting people to donate blood. Making an appointment on the Héma-Québec website.

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