A disease is considered rare when it affects fewer than one in 2000 people. The associated challenges with this are many, including delays in diagnosis, challenges in accessing appropriate care, high personal financial cost of treatments and fragmented research to name a few.
Rare Disease Day is an international initiative with an objective to work towards equity in social opportunity, health care, and access to diagnosis and therapies for people living with a rare disease.
“The first Rare Disease Day was held on February 29, 2008, Leap Year Day, a date picked for its obvious symbolism,” says Dr. Stacie Colwell, physician, IWK Pediatric Advanced Care Team. “The impetus of Rare Disease Day was to raise awareness and to advocate for equity in treatment and research.”
According to the Canadian Organization for Rare Disorders, only 60 per cent of treatments for rare disorders make it to Canada and get approved, and when they do, it’s on average six years later than in the USA or Europe. Additionally, two-thirds of those diagnosed with a rare disease are children.
Most rare disorders, 70–80 per cent, are genetic syndromes with an average time between symptom onset and diagnosis of 5–8 years.
“That’s 5–8 years of seeking an answer in the hope of receiving a treatment roadmap and finding an understanding community, only to find that there likely are neither,” says Colwell. “A full 90 per cent of rare diagnosis have no approved therapies.”
Colwell advocates that we should consider rare diseases from another angle and change the way we think about, and categorize them.
“Are rare disorders truly rare or did our categorizations just make them that way? Taken together, rare diseases affect an estimated 300 million people globally so the experience of having a rare disease is, sadly, not particularly rare,” says Colwell. “Therefore, the call for equity in the research and treatment of rare diseases is not a lone voice asking to divert resources for infrequent benefit. Rather, it’s an exceptional opportunity for building shared research infrastructure, basic science studies of common upstream disease pathways, optimizing ‘orphan drug’ and precision therapeutics development, and for other avenues of enhanced collaboration.”
Ultimately, Colwell’s greatest hope is that the net result of all of these efforts is that families like impacted by rare disease will feel less isolated and be better supported along their already too difficult journeys.
Rare Disease Day is February 28, 2023.