When you’re sick, you seek medical advice. Visiting a doctor, you expect answers — usually in the form of a solid diagnosis and medication to get you on the mend.
But imagine your doctor had few answers, saying your illness was rare, and they had never actually met someone with your symptoms. It was so rare, in fact, even they were left doing Internet searches to try to figure it all out.
This medical uncertainty is often a reality for those living with rare diseases and disorders. In the U.S., rare diseases and disorders are defined as illnesses and conditions impacting 200,000 people or fewer across the country. Globally, the threshold for people impacted differs depending on a country’s population. A country like the UK, for instance, marks a disease or disorder “rare” if it impacts 50,000 people or fewer nationwide.
Feb. 29 is Rare Disease Day, which calls on us to recognize the estimated 7,000 rare diseases and disorders worldwide that are too often ignored. With this recognition comes the obligation to listen to those experiencing a rare diagnosis firsthand — the theme of this year’s Rare Disease Day.