Each year on the last day of February, the National Organization for Rare Disorders invites us to observe Rare Disease Day. But what is Rare Disease Day and what classifies a condition as a rare disease? Read on to find answers and learn how you can participate in Rare Disease Day as an Alpha.

What is a rare disease?

A rare disease is defined as any condition that affects less than 1 in 2000 people. Under the Orphan Drug Act of 1983, a rare disease is defined by the United States as one that affects less than 200,000 Americans.

Rare diseases are estimated to affect up to 5% of the total global population. And, like Alpha-1, most rare diseases are genetic. It is estimated that 72% of the over 7,000 recognized rare diseases are genetically linked.

Why is Alpha-1 considered a rare disease?

Alpha-1 antitrypsin deficiency is one of the most common genetic disorders in the U.S., with over 20 million Americans believed to be carriers of a single abnormal Alpha-1 Antitrypsin (AAT) gene. But, only about 100,000 Americans are estimated to be affected by severe Alpha-1 Antitrypsin Deficiency, technically classifying Alpha-1 as a rare condition.

Like many other rare conditions, Alpha-1 is also severely underdiagnosed with just 10% of those affected by severe Alpha-1 deficiency having been identified thus far.

What is Rare Disease Day?

Rare Disease Day is celebrated on the last day of February each year, falling on the 28th most years and on the 29th – the “rarest day of the year”– during leap years.

First observed in 2008, Rare Disease Day is an internationally recognized movement that aims to bring access to social opportunity, healthcare, and diagnostic therapies to all people living with a rare disease. Rare Disease Day is a chance for the rare disease community to mobilize and centralize efforts to bring these resources to the over 300 million people a.ffected by rare diseases around the world.

How can Alphas participate in Rare Disease Day?

Visit the Alpha-1 Foundation’s website to find ways that you can spread awareness for Alpha-1 as a rare disease and share your rare disease story: https://www.alpha1.org/rare-disease-day/

Sources:

  • https://www.rarediseaseday.org/what-is-a-rare-disease/
  • https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
  • https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information
  • https://ncats.nih.gov/news/events/rdd