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I had a match (in January) with the same gene and type of mutation, but the (symptoms) weren't a great match, then I got an email from a third (clinician) who matched and what's interesting is there is a unifying trait.
Found on CNN 8 years ago
From a clinical perspective, once you see enough (patients) you can define the (symptom) spectrum, age of onset, other organs the disease affects, what their prognosis is, that's what parents ask for. They can say, 'I just met a 30-year-old with this condition.' It's not a cure, it's not a treatment, but it's the power of diagnosis and having a name to put on this condition.
Found on CNN 8 years ago
Sometimes it's a slam dunk where everyone has the same thing and you can party.
Found on CNN 8 years ago
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