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Dustin Bennett Diagnosed Using Whole Exome Sequencing – Mayo Clinic

Precision medicine is getting a jump-start from a new national initiative announced in President Obama’s State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking. Dr. Wszolek describes the case in a newly published article in the medical journal Mayo Clinic Proceedings.

As a toddler, Dustin Bennett could not keep his balance, and as he grew older, the rigid, jerking spasms mysteriously appeared and disappeared. Over time, he also developed learning disabilities.

Dustin’s adoptive mother, Linda Bennett, took him to several doctors to find the cause of his movement problems, but years of tests, medications and hospital stays came up empty for the Pearson, Georgia, family. I wasn’t willing to give up, because I felt there had to be an answer somewhere, Linda says.

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