Article 75HZC The doctor who doesn’t want credit for 'discovering' a rare syndrome bearing her name

The doctor who doesn’t want credit for 'discovering' a rare syndrome bearing her name

by
editors@theworld.org (Deepa Fernandes)
from The World: Latest Stories on (#75HZC)

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 - including reporter Deepa Fernandes' daughter.

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

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