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Genetic Linkage

Rare Disease Day 2023: Isla’s Story and NGLY1 Deficiency

The road to naming an unusual collection of unfolding symptoms is called the "diagnostic odyssey" for good reason: the journey takes, on average, nearly 5 years.


Worldwide, about 400 million people have one of the 10,000 or so recognized rare diseases, or one in ten people, according to Global Genes. About half are children, and 95 percent of the conditions do not have FDA-approved treatments.


In the US, 25 to 30 million people have a rare disease. Ten-year-old Isla Richman is one of them. She has NGLY1 deficiency. Her family shared their story with me in recognition of Rare Disease Day 2023, the last day of February.


To continue reading, go to DNA Science, where this post first appeared.

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