'People are calling you a hypochondriac': Advocates shedding light on the rare diseases affecting millions of Canadians

Advocates and affected patients are working to raise awareness of the prevalence of rare diseases among Canadians.

Feb. 29 is Rare Disease Day, which aims to highlight individual diseases that affect fewer than one in 2,000 people.

Speaking at a conference on rare diseases on Thursday, medical geneticist Dr. Aneal Khan said the number of different rare diseases means most Canadians know someone who has one.

“There's more than 7,000 rare diseases. These are things that people may have heard about like sickle cell anemia, or cystic fibrosis, but they often have names that people haven't heard,” Khan said.

Khan pointed out that the sheer number of different rare diseases adds up to a large cohort of affected patients.

“In Canada, about 10 per cent of the population has a rare disease, that's about 400,000 Albertans or over three million Canadians,” Khan said.

“Many of them don't know they have a rare disease, and many of them can spend up to eight, nine or more years just to get a diagnosis of a rare disease.”

Sarah Halprin has Ehllers-Danlos Syndrome – a group of 13 genetic connective-tissue disorders – as well as mitochondrial disease.

She spent years living with the symptoms of her disease before being diagnosed. Like many with rare diseases, she said it was hard to get people to believe she was sick.

“I was young and not well, all the time, and people are calling you a hypochondriac, and then for months I was going into the hospital, and (having) them telling me it's anxiety, it's hormones, it's all of these things,” said Halprin.

“My diagnosis came first through testing. I was not overly symptomatic, and then a medication progressed my disease to the point where I was in critical care. And in the hospital, in essence, dying.

“Dr. Khan basically found me, and with the help of him and some great friends that have similar disorders, I slowly built up information. I don't think I'd be here without them.”

Kathryn Downey suffers from pulmonary arterial hypertension (PAH), a rare disease in which the very small arteries in the lungs narrow, reducing blood flow to the lungs.

Downey developed her first symptoms in 2016 but spent years struggling to find a diagnosis.

“Between 2016 and 2020 I went to so many doctors, so many specialists. After a while, I began to think I was hypochondriac because they would kind of stand over me and say, ‘Well, it looks like you have something but we don't know what it is.’”

Downey said being diagnosed with a rare disease is scary and relieving at the same time.

“I thought, ‘Finally I've given the name to what I have and they can now cure me. I think it's also the shock that finally that that diagnosis is there,” Downey said.

“What did I do? I looked at Google. And of course, it said the best outcome is two to three years (life span after diagnosis), so that kind of got me nervous. But, I was assured by my doctors that they would help me.”

Downey is currently approaching the fourth anniversary of her diagnosis

There is no cure for PAH but treatments exist.

As with many rare diseases, the costs of Downey’s medications can be astronomical. Just one of the several medications she takes – Remodulin - runs over $30,000 a month.

Following her diagnosis, Downey qualified for Alberta’s Assured Income for the Severely Handicapped (AISH) program. As a result, the province picks up the cost of her medications.

Khan believes the current funding models for developing new drugs need to be reevaluated.

“Really, the development cost should be part of our health care system,” said Khan.

“It’s a responsibility that I think industry needs to take physicians, institutions need to take and government needs to take and the health care system to work together to reduce the cost of drug development, and make these things more accessible to the population.”