Hi Linda,

I was much like you in the beginning. My now 19 month old son was diagnosed through newborn screening. He started on Cortef and Florinef at 1 month old. The doctors here told me he was a saltwaster and needed flornief. I had a feeling after reading and researching that he might not be a SW so I went to NY to see Dr. New. When we got there she noticed right away that he was cushingoid (puffy cheeks/over-suppression) from being on too much steroids. He was at that point on 7mg of hydrocortisone. He was also on Florinef. She wanted to keep us so she could get his dose right and also to see if he was a SW or not.  His 17ohp was at about 100 or under. She took him off of the florinef and waited.  His cortef dose was cut down to 2mg per day and then adjusted at around 3.5mg per day.  We went home feeling much better. I was happy that he was on a much lower dose and we found out that he was not a SW.

I live in TX. My son and I first went to see Dr. New right after the terrorist attacks. It was scary. Last year, our appt was set for Sept.11... Weird. We flew out on the 10th since I’m somewhat a scardy cat! Overall though our trip was great. The most expensive part was the hotel. I believe though that the CARES Foundation has  travel assistance for those that need it. I go about once a year but now I think it will be about once every two years.

My son is doing great. He is on 5mg of cortef right now. He doesn’t take florinef. His growth is great and his weight is great too. He has never had a problem because of the CAH. He has had one ear infection and a few colds here and there. Overall he is doing everything his two older  brothers did at this age. So as scared as I was that this CAH would make his life terrible, it has so far turned out to be life as usual. 

Oh, about your daughter diagnosis...if you are late onset then most likely she is too. If you go to NY they can do DNA testing on you and your partner and daughter to find out what mutations you have. How did you find out you have NCCAH?  Some NC (same as Late onset) people do have to take medication. Your daughter’s aldosterone must have come back normal on the tests, so they determined that she was not a SW. I’m assuming they did the tests before they started her on the meds. I haven’t checked the other posts, but was she diagnosed through screening? 

They might want to check your levels as well, maybe you need medication to help the symptoms you are having. It’s worth getting it checked out.

Good Luck,

Sandra