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Rylee Supple seemed liked a perfectly healthy baby when she was born in August 2016. But after a few months, her parents, Amy Jaeger and Robert Supple, realized something wasn’t right: instead of making normal baby movements, like kicking and grasping, Rylee’s body would shake and spasm.

Jaeger and Supple were worried. They took Rylee to a doctor for a slew of tests, which all came back negative. And in the following months, Rylee got even worse. She couldn’t raise her head or sit up like other babies her age, and she began sweating profusely.

Increasingly concerned, her parents took her to see neurologist Jennifer Friedman at Rady Children’s Hospital San Diego. She suggested trying a wider-ranging medical test called whole-genome sequencing, a technique that spells out the complete order of a person’s DNA—all six billion genetic letters—and looks for abnormalities to help figure out what’s wrong.

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Image via Flickr AttributionNoncommercial Some rights reserved by National Institutes of Health (NIH)

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MIT Technology Review

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