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Rare Conditions

When It Comes to the Rarest of Diseases, The Diagnosis Isn’t the Answer – It’s Just the Starting Point
By Steven Walkley and Melissa Wasserstein Your Health

When It Comes to the Rarest of Diseases, The Diagnosis Isn’t the Answer – It’s Just the Starting Point

“Mr. and Mrs. Smith, we finally have an answer for you.” The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist at the Children’s Hospital at Montefiore in the Bronx, a borough of New York City. […]

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