Chapter 15: Rare Diseases Are Common
Why Are They Missed?
What do celebrities Justin Bieber, Céline Dion and Jameela Jamil have in common? They’ve all shared what it feels like living with a rare disease.
“Rare disease” is the term for a wide range of medical conditions that are each so uncommon, they’re often difficult to identify and treat. To be considered a rare disease in the US, it must affect fewer than 200 thousand Americans, approximately 0.05% of the population.
Until 2022, there wasn’t even an agreed upon definition beyond the mathematics. The resulting internationally endorsed recommendation, called the Operational Description of Rare Diseases, begins:
“Rare diseases include, but are not limited to, rare genetic diseases, rare cancers, rare infectious diseases, rare poisonings, rare immune-related diseases, rare idiopathic[1] diseases, and rare undetermined conditions.”
Talent, fame and fortune won’t fully protect you though money helps. Being able to hire the best physicians may shorten the time to getting diagnosed and treated, if …
