The WorldMay 11, 2026 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.