Thank you, Sandra. That calms me down. I met the geneticist today. He said it is VERY unlikely that Chresten has SWCAH. He says that it has to coincide two rare possibilities: one, that the father has one of the rare and severe mutations plus that he has a second mutation in the same gene (the one inherited from me). He talked about 1% probability that this happens. He was also coming back to the newborn screening results, saying that it is very strange that they miss it.

I think I will go to Denmark tomorrow (first trip abroad with the child), trying to be as calm as possible with the whole thing, and reduce the dosing if I am sure I can make the blood tests there.

Have a Happy Christmas with your family!