February 28 is Rare Disease Day! This is an annual observance dedicated to raising awareness of rare diseases and their impact on patients’ lives. The very first Rare Disease Day was celebrated on a “rare” date–the 29th of February. Since its inception in 2008, Rare Disease Day has become a global phenomenon and has been celebrated around the world on the last day of February.
While rare diseases are individually rare, collectively, they impact a significant portion of the population worldwide. There are over 30 million Americans (~10%) and 350 million people worldwide living with one of the 7,000 documented rare diseases. It takes 3 to 4 misdiagnoses, 8 physicians, and 6-7 years on average for most patients with rare diseases to get an accurate diagnosis. Additionally, over 80% of rare diseases are genetic in origin and 70% of rare diseases start in childhood. Carrier screening can help identify a significant proportion of individuals at risk for developing one of these potentially devastating diseases and empowering them with the knowledge needed to seek timely treatments while avoiding diagnostic delays.
It is important to recognize that while patients living with rare diseases may have a shared journey, their experiences are also individual and unique. The theme of this year’s Rare Disease Day, “Rare is many. Rare is strong. Rare is proud,” focuses on reframing the word “rare” while highlighting the unique experiences of each individual living with a rare disease.
To learn more and find out how you can get involved, please go to Rare Disease Day’s website..