Fragile boy defies odds, finds match

DAWN WALTON

CALGARY From Saturday's Globe and Mail

Evan Pogubila's short life has been defined by defying the odds.

Perhaps one in 75,000 to 100,000 babies is born with severe combined immunodeficiency disease, an inherited condition that renders tiny bodies incapable of fighting off infection and usually kills those afflicted by their first or second birthday.

Nine-month-old Evan is one of those youngsters, forced to live in a sterile hospital room in Calgary, isolated from his family, awaiting a cure.

A bone-marrow transplant is his best shot at a normal life, but the chance of finding a perfect match is about one in three million.

This week, the cherubic-faced boy, who spends most of his time peering out from behind the glass at the Alberta Children's Hospital, found one.

“It's amazing news,” Evan's mother, Melanie Pogubila, said. “It's been a whirlwind.”

Evan was diagnosed with SCID, the so-called bubble-boy disease, in November when his parents noticed he wasn't interested in food and stopped growing. It took 10 days to diagnose SCID, the most serious of the 100 or so known primary immunodeficiencies, and Evan has lived in a germ-free room ever since.

His parents can visit him only when covered with sterilized gowns. His twin sister, Jordan, and other pintsized germ incubators, aren't allowed contact, except through windows.

David Vetter brought the disorder to the public's attention when he was born in Houston in 1971 and lived 12 years in isolator containment systems designed by NASA space-flight engineers. He died in 1984 from a cancerous infection linked to a bone-marrow transplant that doctors and family had hoped would cure his disease.

While transplants don't always work, the success rate can be high. Gene therapy is also being studied – with varying degrees of success – as a possible treatment.

Neither Ms. Pogubila nor her husband, Frank, were a bone-marrow match. Neither was Jordan or any other relative.

This week, the family held a special donor clinic in a bid to find a candidate.

On Thursday, they got an e-mail about an unnamed donor, a perfect match, who is willing to help Evan.

Now Evan is preparing to move by month's end to Toronto's Hospital for Sick Children where the transplant will be performed after he undergoes chemotherapy treatment to prepare his system for the procedure, Ms. Pogubila explained. Recovery could take up to a year.

Had the Pogubilas known sooner about their son's condition, treatment would have been less complex, but they didn't know anything was amiss until he got sick.

Wisconsin is about to become the first state in the United States to test newborns for the condition. Catching the disease early may help babies get a better chance at life. Some have died having never been diagnosed with the disease.

“We've been lobbying to try to get that,” said Tina Morgan, president of the Canadian Immunodeficiencies Patient Organization, adding that the condition is so rare and the cost so high that it has been up to families and doctors to choose to screen for the disease.

(Health Canada is currently studying SCID in native communities, but the Public Health Agency of Canada has not contemplated recommending widespread screening.)

Several hundred transplants have been performed on SCID children around the world in the past 30 years with a survival rate of 60 to 70 per cent, according to Ms. Morgan's organization.

Chances of success improve if the donor is a sibling or other relative and the procedure is performed without chemotherapy prior to the transplant. The success rate rises to 95 per cent if the transplant is done soon after birth or before the infant is only 3½ months old.

“It's going to be a long road, but he's one step closer to being home, so that's the exciting part,” Ms. Pogubila said.

And one thing is certain, Evan has a habit of beating the odds.

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