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. Ada Hamosh More Quotes by Ada Hamosh More Quotes From Ada Hamosh 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. Ada Hamosh health-news Sometimes it's a slam dunk where everyone has the same thing and you can party. Ada Hamosh health-news
