To kick off Rare Disease Week 2023, we thought it would be helpful to provide a brief overview of rare diseases and answer some frequently asked questions.
A rare disease is defined as, “a disease or condition that impacts a small amount of the population with symptoms that may vary patient to patient.”
What unites the rare disease community is often a lack of scientific knowledge or research about certain diseases that may result in a lengthy diagnostic odyssey. We’ve proved time and time again that early diagnosis may prevent future infections and improve quality of life, but we know it can be difficult to secure a proper diagnosis for certain rare diseases. This is why it’s so important to be your own best advocate—speak up and speak out! Read and share the 10 Warning Signs of PI in more than 50 languages, the 10 Warning Signs of CGD, and the 10 Warning Signs of WHIM.
The majority of rare diseases are genetic—72%—including the nearly 500 Primary Immunodeficiencies. When you look at the big picture, rare diseases aren’t so rare: there are 7,000 rare diseases that impact an estimated 300 million people worldwide! This group represent between 3.5 – 5.9% of our global population, and yet there are still so many people who have never heard of their rare diseases.
Sharing your experience with friends and family, and others outside of your community, is a great way to spread awareness, educate others, and encourage a better understanding about your rare disease. We can do so much more when our community comes together to support our cause! Check back later this week for another Rare Disease Week post, and be sure to follow us on social media #Info4PI.