Rare Diseases: A Growing Public Health Priority in Canada and the Role of the Canadian Rare Disease Network

By Karishma Samra, Engagement Coordinator

Rare diseases aren’t that rare. In Canada, rare diseases are a challenge for those directly affected and a growing public health priority. Conditions like cystic fibrosis, which affects the lungs and digestive system; spinal muscular atrophy (SMA), a progressive muscle-wasting disease; and Fabry disease, which can lead to organ damage, are just a few examples of the more than 7,000rarediseasesthatexist.

While individually rare, these diseases collectively affect a significant portion of the population, with many being life-threatening or severely debilitating. Affecting more than 1 in 12 individuals in Canada – over 3 million – these conditions often leave patients and families navigating a fragmented healthcare system, facing long diagnostic delays and misdiagnoses, limited treatment options, and emotional, social, and financial impacts. Around 400 million people globally are affected, highlighting the widespread nature of these conditions. Alarmingly, around 75% of those affected are children, and approximately 30% of them will not live to see their fifth birthday.

This staggering reality emphasizes the urgent need for systemic changes in the recognition, diagnosisandtreatmentofrarediseases.

The complexity of rare diseases presents a unique public health challenge — most healthcare systems are designed to address more common conditions, leaving those with rare diseases underserved. This has driven a national conversation about the need for timely diagnosis, equitable access to treatments, and comprehensive patient care, driven strongly by the tireless advocacyeffortsofmanypatientorganizations.

Rare Diseases and the Role of the Canadian Rare Disease Network (con’t)

In March 2023, the federal government responded with a $1.5 billion commitment as part of the NationalStrategyforDrugsforRareDiseases,sparkingmomentumfortransformativechange.

TheCanadianRareDiseaseNetwork:BuildingaNationalApproach

Amid this momentum, the Canadian Rare Disease Network (CRDN) – Réseau Canadien des Maladies Rares - has emerged as a driving force, uniting Canada’s leading clinical, academic, and patient expertise from coast to coast to coast and across disease boundaries to address the uniquechallengesfacedbythemillionsofchildrenandadultsaffectedbyrarediseasesinCanada.

Thenetwork’svisionisclear

To ensure that all Canadians affected by rare diseases are empowered to live to their full potential, we must create an ecosystem where innovative therapies are readily available, care is comprehensive and personalized, including family and community-centered support, and patientsreceivetherighttreatmentattherighttime,regardlessofwherethey live in Canada.

Formed in October 2023, the CRDN Steering Committee set the foundation for the network’s collaborative efforts. Led by Chair Dr. Francois Bernier, Director of the Alberta Children’s Hospital Research Institute, the committee includes representatives from healthcare, research, and patient organizations, such as the Canadian Organization for Rare Disorders (CORD) and the Regroupement Québécois des Maladies Orphelines (RQMO). This inclusive leadership ensures that CRDN remains patient-centered while addressing the broader public health impacts of rare diseases. CRDN’s official launch on Rare Disease Day, February 29, 2024, was a watershed moment, underscoring its commitment to changing how rare diseases are managed and treated across the country.

CRDN’sFourPillars:AddressingtheRareDiseaseJourney

CRDN’s work is anchored in four key pillars, which drive the network’s efforts to improve every stage of the rare disease journey — from diagnosis and treatment to comprehensive care and support:

•Diagnostics&Registries

Address diagnostic delays common for rare disease patients. Under Dr. Kym Boycott’s (CHEO) leadership, this pillar focuses on reducing the diagnostic odyssey experienced by many patients by enhancing precision diagnostics, strengthening newborn screening approaches, and supporting registriestobetterunderstandrarediseasesacrossCanada.

•InnovativeTherapies

The rarity of these diseases often means that treatment options are limited or nonexistent. Under Dr. Leanne Ward’s (CHEO) leadership and integration of new treatments. By focusing on cuttingedge research, ensuring equitable access to clinical trials and emerging pharmacological and nonpharmacological therapies, and integrating these into clinical practice so patients can benefit fromthesemedicaladvancements.

Rare Diseases and the Role of the Canadian Rare Disease Network (con’t)

•Care,Support,&Empowerment

Rare disease patients often face complex medical needs and significant social, emotional, and financial challenges. Led by Dr. Ian Stedman (York University), this pillar emphasizes holistic, patient and family-centered care and support. By building a supportive ecosystem where patients and their families can access the resources and support services they need. Empower them to confidently navigate their rare disease journey while acknowledging the critical role families and communities play in providing essential care and support.

•National&GlobalCollaboration

Collaboration is at the heart of CRDN’s work, extending across all pillars. By partnering with national and global organizations, healthcare and research efforts, and patient groups, CRDN fosters the exchange of knowledge, best practices, and resources. By fostering collaboration on a global scale, CRDN ensures that Canada is not only contributing to but also benefiting from globaladvancementsinrarediseaseresearchandcare.

JointheConversation:UpcomingCRDNTownHall

As CRDN builds momentum, it remains committed to engaging the broader rare disease community. On October 31, 2024, the CRDN will host a Town Hall, inviting patients, caregivers, healthcare providers, researchers, and advocates to engage in a critical conversation about its mission, vision, and strategic goals. This event will be an opportunity for the community to learn abouttheworkbeingdoneacrossCRDN’sfourpillars,askquestions,andsharetheirinsights. The Town Hall will also serve as a platform for co-creation, where attendees can provide input on the network’s future direction and contribute to shaping the strategic plan. It’s a unique chance to help build a stronger, more inclusive rare disease community in Canada, ready to tackle the public health challenges of rare diseases head-on. Together, through collaboration, innovation, and patient-centred care, we can ensure that no one with a rare disease is left behind.

Stayconnected!

To stay updated on CRDN’s work and future events, be sure to follow on social media (X and LinkedIn). And don’t forget to sign up for the Town Hall at www.canadianrdn.ca — it’s an opportunity disease community inCanada.