This article appeared in the July/August 2021 issue of Discover magazine as "Mysteries at the Edge of Medicine." Subscribe for more stories like these.
Elizabeth wouldn’t walk or talk as a toddler. Laura’s hair fell out, and rashes attacked her skin. Angela’s left leg was so swollen it hurt to stand. Emma needed a breathing machine just to sleep. Their suffering may take different forms, but their stories share a common thread: Neither they or their families knew what was actually causing these issues.
Undiagnosed diseases are more common than you might think. Tens of millions of Americans likely suffer from disorders they cannot name. For many, the symptoms are minor. But in some cases, patients come to their doctors with serious problems caused by diseases that defy medical knowledge.
Those cases are precisely where the Undiagnosed Diseases Network (UDN) steps in. Established in 2008 at the National Institutes of Health (NIH), the UDN’s mission is to provide answers for patients with diseases that doctors are unable to diagnose. Anyone can apply to the program — with their doctor’s blessing — and the UDN endeavors to screen every application it receives.
