When Even Genome Sequencing Doesn't Give a Diagnosis

MIT Technology Review 

Four-year-old Beckett Edwards has had the works when it comes to genetic testing. And his family still doesn't have an answer. Soon after he was born, his parents, Eric and Tricia, noticed that his muscles were floppy. By age two and a half, Beckett had begun losing his 40- to 50-word vocabulary. Now he's able to say only a handful of words and mostly babbles. Like any parents whose child isn't well, Eric and Tricia, who live in Los Angeles, want a diagnosis.

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