Health Insight
In this issue
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Rare Disease Families Need Better Mental Health Support
Canadians living with rare diseases often face significant psychosocial gaps. A new virtual model aims to improve access and continuity of care. Canadians living with rare and undiagnosed conditions often navigate a long and exhausting journey. Beyond medical complexity, many individuals and families face significant emotional strain, fragmented care, and limited access to clinicians who...
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Care4Rare: Precision Health Enables Rare Disease Discovery
Care4Rare Canada uses advanced genome sequencing, national data-sharing, and precision health tools to bring answers to rare disease families. Care4Rare Canada, a national research collaboration led out of the CHEO Research Institute, has harnessed cutting-edge genetic technologies to transform the diagnostic landscape for rare disease families for over a decade. Through this work, Care4Rare has identified diagnoses that evaded conventional testing for hundreds of families and advanced the use of genomic sequencing as a diagnostic tool across the...
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Leading the Way in Rare Heart Disease Care
The Ottawa Heart Institute is advancing coordinated, research-driven care for rare cardiac conditions across Canada. Rare heart conditions have long been overlooked in research and clinical care. Because they affect relatively small numbers of people, doctors once had limited data, few effective treatments, and little coordination of care. Today, that’s beginning to change thanks to advances in science and leadership...
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Rare Disease Treatment and Care Progress Is Worth Celebrating
This Rare Disease Day 2026, Canadian families living with rare disease have much to celebrate — and even more to look forward to. Through Canada’s National Strategy for Drugs for Rare Diseases, patients with serious and life-threatening rare diseases are gaining faster access to innovative therapies. For those living with rare conditions, time matters. Earlier access to treatment can reduce...
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How Increased Understanding Changes The Patient Experience
AS1-CAN-00169, February 2026 This complex rare disease highlights why patient advocacy is critical to accessing better treatments and increasing clinical understanding overall. Acute Hepatic Porphyrias (AHP) is a group of genetic disorders that presents differently in every patient. AHP is a misunderstood, misdiagnosed condition. Patients may experience sudden attacks including severe symptoms like confusion, insomnia, abdominal pain,...
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Why It’s Important to Diagnose and Treat High Cholesterol
We all produce and need cholesterol. But high amounts of the wrong kind can put us at risk of cardiovascular disease. Cholesterol is a fat that’s found in our blood. Our bodies make it naturally, but it can also be increased through our diet. Cholesterol comes in two forms: low-density lipoprotein (LDL-C) and high-density lipoprotein...
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Why Canadian Duchenne Families Are Raising Their Voices on Rare Disease Day
Turning Awareness into Action for Duchenne Rare Disease Day, observed internationally on February 28, is more than a moment of awareness – it is a call to action. Each year, it brings together families, advocates, healthcare professionals, and decision-makers to advance equity in care, research, and treatment access for people living with rare diseases. In...
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When Answers Are Hard to Find: A Rare Disease Q&A with Dr. Luke Chen
From years-long diagnostic journeys to breakthrough treatments using existing drugs, Dr. Luke Chen explains how collaboration, persistence, and the next generation of physicians are helping bring clarity—and hope—to patients living with rare diseases. Many people living with rare diseases spend years searching for answers. From your experience, why are rare conditions so difficult to diagnose—and...