Rare Disease Day: What Is It and Why Does It Matter?

By Nicole Choy · Feb 2019

Every year, on the last day of February, patients and families all over the world observe Rare Disease Day. In the United States, the NIH defines a rare disease as one affecting fewer than 1 in 200,000 individuals — yet approximately 30 million Americans are living with a rare disease, and more than half of those affected are infants or children.

What Is the Purpose of Rare Disease Day?

Organized by EURORDIS, Rare Disease Day promotes awareness and education for the public, and seeks to engage policy makers, researchers, healthcare providers, and industry. There are approximately 7,000 known rare diseases — many without active research programs, and many more yet to be diagnosed. The 2019 theme, "Bridging health and social care," focused on the significant daily challenges patients and caregivers face beyond medical appointments: equipment, social support, and reduced capacity for work or leisure.

Getting Involved

Organizations like NORD (National Organization for Rare Disorders) and Global Genes connect individuals within the rare disease community and educate the general public. The official #ShowYourStripes campaign welcomes participation from anyone who wants to show support. If you or someone you know is living with a rare disease and you have questions about how it may affect your family, consider meeting with a genetic counselor.