The Importance of Rare Disease Day: Amplifying the Voices of Rare Disease Patients

by Cheryl Petruk, MBA

Rare Disease Day, observed annually on the last day of February, serves as a global platform to raise awareness about rare diseases and the challenges faced by patients and their families. With an estimated 300 million people worldwide affected by rare diseases, this day is an opportunity to shed light on the struggles, advocate for improved healthcare access, and push for increased research and policy changes. By amplifying the voices of rare disease patients, Rare Disease Day fosters a sense of community and drives meaningful action toward better support and treatment options.

Understanding Rare Diseases

A rare disease is defined differently across various regions. In the United States, a rare disease affects fewer than 200,000 individuals, while in Europe, it is a condition that affects fewer than 1 in 2,000 people. There are over 7,000 known rare diseases, many of which are genetic, chronic, and life-threatening. Despite their rarity, these diseases collectively impact millions of individuals globally.

In Canada, approximately 1 in 12 individuals—over 3 million people—are affected by a rare disease, with two-thirds of these patients being children. medunikcanada.com

There are about 7,000 known rare diseases, 80% of which are genetic in origin. care4rare.ca

Unfortunately, 95% of these diseases lack approved treatments. medunikcanada.com

The average time to receive an accurate diagnosis ranges from 4 to 8 years, during which patients often experience a "diagnostic odyssey" involving multiple specialists and misdiagnoses. care4rare.ca

Recognizing these challenges, the Canadian government announced the National Strategy for Drugs for Rare Diseases in March 2023, investing up to $1.5 billion over three years to improve access to effective treatments and enhance early diagnosis and screening for rare diseases.

One of the greatest challenges facing rare disease patients is the lack of medical knowledge and research. Due to the limited number of cases, rare diseases often receive less attention from pharmaceutical companies and researchers, resulting in delayed diagnoses, limited treatment options, and insufficient healthcare support. Patients and families frequently endure diagnostic odysseys, with some waiting years before receiving an accurate diagnosis.