MacarenaYes, Sandra. It is V281L. My doctor says it is asociated with milder forms of CAH and is definitely NOT a salt wasting form. So, no matter what my husband has, even if he has an associated SW mutation, my son cannot be a salt waster because he has enzymatic activity with my "bad" gene (V281L), actually around 25%.
I’m more and more convinced that the diagnostic was wrong, and that we are giving our child things he doesn’t need. At the same time, I’m worried in doing all the changes (reducing the doses) 5 days before the trip... but anyway, that’s the least of our problems. We’ll handle it the best we can.
Un abrazo