Written by Leah Sarah Peer, Peer Medical Foundation | RARE.Qc EDI Committee
Rare diseases affect an estimated 300 million people worldwide and 1 in 12 Canadians (Lancet Global Health, 2024). And yet, in country after country, medical training does almost nothing to prepare physicians to recognize them. Worse, it fails some patients far more than others.
The evidence is difficult to ignore. Women wait 46% longer than men for a rare disease diagnosis (Faye et al., 2024). Foundation research funding for cystic fibrosis is 75 times greater per patient than for sickle cell disease, and that gap follows racial demographics, not disease severity (Farooq et al., 2020). Here in Canada, Indigenous families, rural communities, and Francophone patients face additional barriers on top of an already exhausting journey. This is not simply a gap in medical knowledge. It is a failure of equity.
In June 2026, I had the opportunity to present this work at the ITINERARE Rare Disease Summer School at the University of Zurich. Sitting with researchers, clinicians, and ethicists from across Europe and North America, one thing became undeniably clear: this problem is not unique to Canada. The education gap is global (Huynh et al., 2025), and the response has to be too.
Photo: Zurich University, Host of the 2026 ITINERARE Summer School
Through the Peer Medical Foundation’s Peer Med Zebra initiative, I am working to build something that does not yet exist in this country: rare disease curricula for medical training that take equity, diversity, inclusion, and accessibility seriously from the start. We develop our content with patients and caregivers, not just about them, and we use real patient narratives to teach future healthcare professionals something the textbooks leave out: that who a patient is shapes their diagnostic journey just as much as what they have.
As a rare-sibling whose family navigated this system firsthand, I bring lived experience alongside evidence. What began as a question, why didn’t anyone teach my sister’s doctors, is now driving curricular change, international collaboration, and a growing movement of patients, caregivers, and clinicians who refuse to accept the status quo.
Physicians diagnose, but nurses, genetic counsellors, physiotherapists, pharmacists, and scientists all shape the rare disease journey. Preparing every healthcare professional and researcher to understand rare disease is not optional. In a diverse world, it is a responsibility.
Photo : Leah Sarah Peer
To learn more about the Peer Medical Foundation (Peer Med Zebra), please visit their website.
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References
Farooq F, et al. (2020). Comparison of US federal and foundation funding of research for sickle cell disease and cystic fibrosis. JAMA Network Open, 3(3):e201737.
Faye F, et al. (2024). Time to diagnosis and determinants of diagnostic delays. European Journal of Human Genetics, 32, 1116–1126.
Huynh S, et al. (2025). Rare disease education in medical schools: patient-centered and innovative strategies. Orphanet Journal of Rare Diseases, 20.
Pearce DA, et al. (2024). The landscape for rare diseases in 2024. The Lancet Global Health, 12(3).