Rebecca,

Many thanks for your answer. Did they not question the diagnostic in light of the DNA results? How much weight do they put on them? Here they are also going to do the full sequence of the genes of our son to further check, but I find it amazing that we are on the exception of the exception... Also, our son’s cortisol and aldosterone levels when he was first tested in the ICU were normal. Was that the case with your daughter?

My confussion lies in the fact that I have two (quite good) doctors with contrary opinions, and that is very frustrating.

Thanks again.