Rare Disease Day 2021

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..

Rare Disease Day 2019

Today, February 28, is Rare Disease Day. Rare Disease Day was established in 2008 as a way to raise awareness of rare diseases and bring focus to research and treatments.

Individually, each of the approximately 7,000 rare diseases have an incidence of fewer than 200,000 people in the United States affected at any given time. However, when considered altogether, rare diseases affect as many as 1 in 10 Americans and over 350 million people worldwide.

These rare conditions have a wide variety of symptoms, severity, and treatments. Some are life threatening while others can be managed. What most have in common, however, are a genetic cause. About 80% of rare diseases have a genetic origin.

For 2019, the theme for Rare Disease Day is “Bridging Health and Social Care,” which focuses on bridging the coordination gaps among medical, social, and supportive services for those afflicted with rare diseases.

Knowing if you are a carrier for a rare disease is powerful information to have, especially if you are thinking about having children. To learn more about screening to determine whether or not you could be a carrier, visit our website at https://nxgenmdx.com/genetic-screening.

To learn more about Rare Disease Day, visit www.rarediseaseday.org or follow Rare Disease Day on Facebook or Twitter.