Fewer than two dozen people worldwide have ever been diagnosed.
None of them should face it alone.

A condition rare enough that most doctors will never see a second case.

Mitchell Riley syndrome is caused by inherited variants in the RFX6 gene. It typically presents at birth with neonatal diabetes alongside digestive-system differences such as intestinal atresia and gallbladder hypoplasia. Fewer than two dozen cases have been formally documented worldwide, so most physicians who encounter it are seeing it for the first time.

The published case history is a difficult one — but it is also an evolving one. The most recent clinical reports describe children managed with intensive, modern, multidisciplinary care surviving well past infancy, including children now living past their second and even ninth birthdays — outcomes earlier literature didn't anticipate. That trajectory is exactly why coordinated research and shared clinical knowledge matter so much for a condition this rare: every documented case teaches the next family's doctors something they couldn't have known otherwise.