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.

Dr. Paola Nicolaides in her office where she sees patients at the American Medical Center in Nicosia, Cyprus.Deepa Fernandes/The World

Dr. Paola Nicolaides is the Cypriot pediatric neurologist behind the discovery of an ultra-rare genetic syndrome. She was early in her career when she encountered a very unusual patient. An encounter that 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.

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Within the past year, there have been dramatic cuts to science research grants. Particularly hard-hit has been rare disease research, which has always been difficult to fund, including research on Nicolaides-Baraitser syndrome. But global research collaborations are forging ahead, led by some of the most impacted people.

Funding for these reports were provided by the Pulitzer Center.

Here is a photo gallery of some of the people battling through and promoting research for Nicolaides-Baraitser syndrome:

Paul, Harley and Lisa Smith in Flitwick, England, February 2026. Harley has Nicolaides-Baraitser syndrome.Deepa Fernandes/The World

Callum Reavey and Maya Rogers, both with Nicolaides Baraitser syndrome (NCBRS), visit a nature park in Marston Vale, England, in February 2026.Courtesy of Michelle Reavey

Lee, Callum and Michelle Reavey in Flitwick, England, February 2026. Callum has Nicolaides-Baraitser syndrome. Lee and Michelle started the NCBRS Foundation after Callum was diagnosed as the 7th person with NCBRS in 2007.Deepa Fernandes/The World

Scientist Stephanie Efthymiou from the Institute of Neurology at the University College of London consults with lab technician and Biobank coordinator Aleksej  Kubelka, who is examining a specimen in the Institute’s Biobank.Deepa Fernandes/The World

Artist Paris Sergiou sits between two of his paintings at his solo exhibition in Nicosia, Cyprus, in February 2026. He is a patient of Dr Nicolaides but does not have NCBRS.Deepa Fernandes/The World

A painting on display by artist Paris Sergiou during his solo exhibition in Nicosia, Cyprus in February 2026.Deepa Fernandes/The World