Some 25 million Americans live with rare genetic diseases — that’s nearly 1 in 13. More than half are children. The path to discovering what the condition is, and finding treatments, can take years. But for children who are medical mysteries, getting a diagnosis can be life changing. Today, we meet a Cypriot pediatric neurologist behind the discovery of an ultra-rare genetic syndrome. Dr. Paola Nicolaides was early in her career when she encountered a very unusual patient. That encounter would change the lives of 333 individuals who, today, have a diagnosis of a syndrome bearing her name, the Nicolaides-Baraitser syndrome, including reporter Deepa Fernandes’ daughter.

Funding to report this story was provided by the Pulitzer Center.