5 Rare Disease Stats Everyone Should Know

August 14, 2021

Taylor Kane

1. There are over 7,000 known rare diseases with more being discovered every year.

While each rare disorder is different, the struggles faced by people in the rare disease community are often pretty similar. Even though the patient populations of each individual rare disease are fairly small (defined as impacting <200,000 Americans), members of each disease group often band together to discuss issues facing the rare disease community as a whole, and to advocate for greater access to treatments.

2. Rare disease affects 400 million people worldwide Rare diseases aren’t as rare as they seem.

The number of people affected by rare diseases worldwide is greater than the entire population of the United States, and four times the size of the world cancer population. Rare disease spans the entire globe and does not discriminate based on identity.

“Genetic testing can help provide answers to people struggling with unexplained symptoms.”

3. Only 5% of rare diseases have Food and Drug Administration (FDA) approved treatments.

The 95% of rare disease patients whose diseases do not have an FDA approved treatment either use off-label treatments (treatments approved by the FDA but not for their specific condition) or do not have any treatments available. Off-label treatments can be very expensive for patients and their families.

4. 80% of rare diseases are genetic.

Since most rare diseases are genetic, it is important to expand access to affordable genetic testing. Genetic testing can help provide answers to people struggling with unexplained symptoms, and allow patients and their families to take control of their health.

5. On average, it takes almost 5 years from the onset of symptoms for a person to be accurately diagnosed with a rare disease.

Since rare diseases are less well-known than more common chronic conditions, it usually takes much longer for those affected by rare diseases to receive an accurate diagnosis. Many people with rare diseases are often first diagnosed with more common conditions, such as autism spectrum disorder (ASD).

In the 1940s, a professor told his medical students, “When you hear hoofbeats, think of horses, not zebras.” In other words, the doctor was telling his students that when patients have certain symptoms, they should first consider common conditions, not rare ones. The zebra then became a symbol of the rare disease community. Its purpose is to remind the medical community to not forget about those with rare conditions!

Taylor is a rare disease advocate, public speaker, author, & more!