The whole family has had genetic screening done, but I don’t know where the papers are (we have moved since and they are pack up in the basement somewhere). I don’t remember the mutation, but I know Dr. New said it wasn’t the one she thought we would have (I’m Jewish and both hubby and I are of eastern european origins). I’ll let you know as soon as I find the papers.
Julia has never had high blood pressure and (knock on wood) never an adrenal crisis. Only one visit to the OR for a stomach virus when we were visiting friends last New Year’s eve...I brought the solu-cortef but didn’t realize it needed to be diluted and had no diluent. Luckily, the doctor in the OR was very up on CAH...asked all the right questions, hydrated her, made sure she ate something and let us go. Needless to say, the company we get our injectibles from sent me diluent immediately and I haven’t needed it since. She has actually only needed the solu-cortef 3 times in the past 5 years.