The first drug ever approved that can fix a faulty gene.

It's called Glybera, and it can treat a painful and potentially deadly genetic disorder with a single dose — a genuine made-in-Canada medical breakthrough.

But most Canadians have never heard of it.

A team of researchers at the University of British Columbia spent decades developing the treatment for people born with a genetic mutation that causes lipoprotein lipase disorder (LPLD).

LPLD affects communities in the Saguenay region of northeastern Quebec at a higher rate than anywhere else in the world.

Montreal psychologist Cynthia Turcotte, 42, was born with LPLD, but wasn't diagnosed until it almost killed her when she was eight months old.

As a result of the gene mutation, her body is missing an essential protein that processes dietary fat. Her blood becomes thick and white with fat particles that can destroy her pancreas.

All her life, Turcotte has had to follow a strict diet. She can't eat cheese or chocolate or any food that contains fat. And she can't drink even a drop of alcohol.

All of that made it difficult to have a normal social life when she was younger.

But the worst part was learning that she could never have children. Women with the disease are warned to avoid pregnancy because there is a high risk of miscarriage.

Despite accepting all of that and following a very strict diet, Turcotte experienced the most dangerous symptom of LPLD a decade ago — an agonizing pancreatitis attack.

"It's like digesting yourself," she said of the pain.

"Pancreatitis is like acid going through your belly and your abdomen. At that time, I was screaming. I was hospitalized for 10 days."

Frightened for her future, Turcotte learned about a clinical trial in Chicoutimi, Que., where doctors were testing an experimental treatment for LPLD. She immediately volunteered.

A series of injections in her leg muscles during a single visit changed Turcotte's life, ending the pancreatitis attacks and giving her the chance to start the family she thought she’d never have.

"It was a turning point in my life," said Turcotte, who is the proud mother of two young children — her "two miracles," she calls them.

But Turcotte would be one of only 31 people with LPLD to ever experience the benefits of Glybera.

The drug works. It is safe. But it's no longer available anywhere in the world.