Rare diseases — of which there are estimated to be over 7,000, affecting collectively more than 300 million people worldwide — are rarely rare in their aggregate burden, even as each individual condition may affect only a handful of people. The experience of rare disease is often marked by diagnostic delay averaging five to seven years, limited treatment options, geographic isolation from specialist expertise, and the profound difficulty of being sick in ways the healthcare system is poorly organized to address. What rare disease patients and their families often learn — out of necessity — is a form of deep medical self-knowledge and advocacy that the rest of medicine could learn from.
Dipa