Q: Which doctor should I consult for Barth Syndrome?
A: If you are a parent and are worried about the risk of Barth syndrome in your child, because of a presence of the condition within your family, consult a genetic counselor. A genetic counselor will be able to point you in the right direction. Because of the various complications and abnormalities caused by the genetic mutation, treatment generally requires an interdisciplinary team.
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Q: In the absence of a cure, does early diagnosis make a difference?
A: Despite the fact that a cure is yet to be found, treatment can make a huge difference to the quality of life and in terms of life expectancy, especially if diagnosed early. In the past most children would not survive past the age of three, but this is no longer the case.
