'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.”
CTVNews.ca Top Stories
'Environmental racism': First Nations leaders claim cancer-causing contamination was covered up
The people of Fort Chipewyan believe the federal government believe the federal government knew its water was contaminated and hid the issue for years. Now the chief of the Athabasca Chipewyan First Nation is leading the call for immediate action.
Death toll from Hurricane Helene rises to 227 as grim task of recovering bodies continues
The death toll from Hurricane Helene inched up to 227 on Saturday as the grim task of recovering bodies continued more than a week after the monster storm ravaged the Southeast and killed people in six states.
Car flies into B.C. backyard, lands upside down
A driver suffered only minor injuries after going airborne in a residential neighbourhood in Maple Ridge, B.C., on Friday, the car eventually landing on its roof in someone’s backyard.
Donald Trump, Elon Musk attend rally at same Pennsylvania grounds where gunman tried to assassinate Trump
Donald Trump returned on Saturday to the Pennsylvania fairgrounds where he was nearly assassinated in July, holding a sprawling rally with thousands of supporters in a critical swing state Trump hopes to return to his column in November's election.
Tax rebate: Canadians with low to modest incomes to receive payment
Canadians who are eligible for a GST/HST tax credit can expect their final payment of the year on Friday.
'No one has $70,000 dollars lying around': Toronto condo owners facing massive special assessment
The owners of a North York condominium say they are facing a $70,000 special assessment to fix their building's parking garage. '$70,000 is a lot of money. It makes me very nervous and stressed out of nowhere for this huge debt to come in,' said Ligeng Guo.
Police ID mom, daughter killed in Old Montreal; video shows person break into building before fatal fire
Police released the identities of the mother and daughter who were killed after a fire tore through a 160-year-old building in Old Montreal on Friday.
Frequent drinking of fizzy beverages and fruit juice are linked to an increased risk of stroke: research
New data raises questions about the drinks people consume and the potential risks associated with them, according to researchers at Galway University in Ireland, in partnership with Hamilton’s McMaster University.
'I screamed in shock and horror': Family faces deadly Vancouver hit-and-run driver during sentencing
The sentencing of the man who pleaded guilty in the deadly hit-and-run in Kitsilano two years ago began on Friday.