by Samantha Antekeier and Autumn Sparks – genetic counseling students
What is Rare Disease Day?
Medical students are taught to first think about the most common causes of illness, rather than spending time on the rare ones. Dr. Theodore Woodward created a saying in the 1940s to remind students of this idea: “When you hear hoofbeats, think horses, not zebras.” This means most of the time, common illnesses are the cause, but rare ones (called “zebra” conditions) do exist and can be missed, making it harder to find the right diagnosis. Rare Disease Day helps raise awareness and support for people with rare conditions and their families. It happens on the last day of February, which is the 28th day in 2025, or the 29th day in a leap year – the rarest day of the year.
What is a rare disease?
A rare disease is a condition that affects fewer than 1 in 2,000 people, or less than 200,000 people in the United States. There are over 10,000 different rare diseases that affect 300 million people all over the world. In the United States, 1 in every 10 people has a rare disease. Many of these conditions, about 72%, are genetic, which means they can be passed down in a family. Genetic counselors and doctors who specialize in genetics can help people who are trying to find out if they have a rare disease. Some examples of rare diseases include cystic fibrosis, which affects the lungs and digestive system; Duchenne Muscular Dystrophy, which affects muscles; and Huntington’s Disease, which affects the brain and nervous system.
History of Rare Disease Day
The first Rare Disease Day happened in 2008, with events in 18 different countries. It was created by EURORDIS, a European group that helps people with rare diseases. Since then, Rare Disease Day has grown, with over 100 countries taking part. Each year, the event focuses on different parts of living with a rare disease, like problems with healthcare inequality, the need for research, and giving patients a chance to share their stories.
Why is Rare Disease Day important?
People with rare diseases often face extra challenges because of their condition, or because they haven’t been diagnosed yet. Since rare diseases are so uncommon, there is less medical knowledge, research, and expert help available, which can make it hard to find a diagnosis. Treatments and therapies may be hard to get or not available at all as a result. Rare diseases can also cause problems beyond health, like unfair treatment, feeling left out, and a bigger chance of facing money problems.
Five Ways to Get Involved in Rare Disease Day
- WEAR STRIPES to start conversations about rare diseases and spread awareness. Post a picture on social media with #ShowYourStripes and #RareDiseaseDay to reach more people. Find social media templates and other downloadable resources here.
- LIGHT UP your home or business in the official Rare Disease Day colors (see the Light-Up Toolkit here). This makes the day more visible, especially since not all rare diseases can be seen.
- DONATE to the National Organization for Rare Diseases (NORD) or to the Rare Disease Day website. NORD’s donations help patients directly, by funding things like transportation for patients who are travelling for appointments. Rare Disease Day donations support awareness efforts.
- ATTEND AN EVENT through NORD and the Rare Disease Day websites for event details.
- ADVOCATE by joining the Rare Action Network, a volunteer group working for policy change.
Resources
If you have a rare disease, the IAMRARE Program by NORD connects patients with other patients, research, and clinical trials. You can also find helpful services in NORD’s State Resource Center, offering support for mental health, legal aid, caregiving, and more.
References
Ambardekar, A. V. (2019). When You Hear Hoof Beats, Think of the Treatable Zebras∗. JACC: Heart Failure, 7(11), 967–969.
Find a Study | IAMRARE®. (2023, January 25).
List of Rare Diseases | A-Z Database | NORD. (n.d.). Retrieved February 16, 2025, from rarediseases.org
NORD Rare Disease Day. (2024, January 30). National Organization for Rare Disorders.
Previous Rare Disease Days. (n.d.). Rare Disease Day 2025. Retrieved February 16, 2025.
Rare Diseases FAQ. (n.d.). Retrieved February 16, 2025.
IAMRARE® | Rare Disease Research Platform. (2022, September 28).