The high cost of rare diseases in Newfoundland and Labrador

ST. JOHN’S, NL — When his doctor told 51-year-old Michael Benoit that he would be lucky to reach the age of 60 if he continued to work as a carpenter, he decided to return to Campbells Creek to be closer to his family and the fresh ocean air.

“The situation has worsened over the past five to seven years. I don’t know why, it just seems to go faster,” he said in a phone interview.

Benoit once thought that maybe he had undiagnosed asthma or that his years of working in dusty environments made it difficult for him to breathe.

But after a blood test, he was told he had a rare genetic condition called alpha-1 antitrypsin (AAT) deficiency.

In his 51 years, Benoit had never heard those words before.

What is alpha-1?

Dr. Ken Chapman, a professor of medicine at the University of Toronto, has worked for decades on lung diseases such as chronic obstructive pulmonary disease (COPD).

In the late 1990s he began to focus on the AAT. Little attention was paid to the rare disease in Canada, he said in a telephone interview, so he began collaborating with colleagues in the United States and Europe.

Alpha-1 antitrypsin is a protein whose job appears to be to protect the lungs, Chapman said.

“Now imagine you’ve got a little cold, you’ve had a little lung infection, the white blood cells are galloping around the area, they’re eating the germs (using a digestion protein called elastase and) everything’s fine,” Chapman said. “But I have to tell you that the white blood cells are a bit sloppy, so they shed some of that elastase.”

Think of it as cleaners spilling industrial bleach everywhere, he said.

“Now the alpha-1 antitrypsin mop up this (elastase). No harm, no foul. The bacteria are eaten, the lungs are protected,” he said. “Unless, of course, you be very low in alpha 1. Then when the white blood cells are doing their useful work, they spill out this bleach, or this elastase, which devours the lungs and you end up with emphysema.

“So it’s an imbalance of a few protection systems.”

The discovery of AAT happened 50 years ago in Sweden and is relatively common in Caucasian populations in northern Europe, Chapman said.

“So if you can trace your ancestry to Scandinavia, Scotland, Ireland, England, France, Germany, Northern Europe or Poland, there’s a good chance of a higher prevalence of this problem. genetics,” he said.


Rare diseases are often overlooked, and alpha-1 is often overlooked by doctors, Chapman said.

“Although the screening is a very inexpensive blood test, it is often not done,” he said.

“Now, to be fair to Canadian doctors, even pulmonologists didn’t realize for a long time that a treatment specifically for alpha-1 was available. »

Augmentation or replacement therapy slows progression by infusing the patient’s blood with plasma containing the protein alpha-1 antitrypsin. This therapy has been around for 25 years.

But the only provinces covering the cost are British Columbia and Quebec, Chapman said.

It used to be covered in Ontario as well, but about 10 or 12 years ago the provincial government abruptly delisted the augmentation therapy it had covered since the 1990s, Chapman said.

“It was outrageous. I don’t know where the money went,” he said.

High cost

Like other therapies that come from blood donations, it is expensive.

“It’s (about) $80,000 a year for cryoprecipitate to manage hemophilia,” Chapman said. “The same with alpha-1, but there’s a clear difference here.

“For reasons that are not clear to me, augmentation therapy, these infusions have been marketed and distributed as prescription drugs. So (it’s) covered by some provincial forms in some cases and covered by private insurance, if you had one. Hemophilia patients have their blood products distributed by Canadian Blood Services. In fact, Alpha-1 Augmentation Therapy is currently the only blood product in Canada that is not distributed by Canadian Blood Services. Don’t ask me to explain it to you. I don’t understand it.

In an email, the Department of Health and Community Services confirmed that augmentation therapy is not covered by the Newfoundland and Labrador Prescription Drug Program (NLPDP).

left with nothing

At that price and without private insurance or NLPDP coverage, even if Benoit was physically able to work, he could not afford to eat, he said.

“I have pretty much nothing left,” he said of his treatment options.

He uses inhalers and a nebulizer, and has medications such as antibiotics and prednisone on hand. That way, if he gets a lung infection, he can take medicine right away.

“I basically try to watch myself. There’s nothing for me to help protect myself except to try to keep my airways open,” he said. “Even going up a flight of stairs… I have to stop and pause for a few seconds (to) catch my breath. Any kind of effort, even bending over, takes my breath away.

“That’s not where I want to be at 51.”

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