Hi Erin,

Sorry I am just getting back to you. I haven't been on the board for a while. I am in Houston.  I got the genetic testing done because I wanted to be sure of what my son was diagnosed with.  They said that he has classic CAH and that he was a saltwaster. I understand that the ACTH test is THE TEST they use to diagnose the CAH but I also found out that most endo's lump simple virilizers and saltwasters together if they haven't witnessed a SWcrisis.  My son didn't start his medicaton until he was 30 days old. He thrived from the get go. He never lost weight or had a problem gaining weight.  Even when the endocrinologist was called with my sons results and his electrolytes for the first time on a Friday she waited to see us until Monday. 

I asked my endo about DNA and she told me they weren't available. I told her oh really, I found a lab in NY that does DNA testing for CAH. She then said, "Well, do you know how much it cost" inferring that it would be money just thrown away. I told her I don't care how much it costs. I want it done and I need it to be done for my own piece of mind. I then pretty much did it on my own. Oh, I also switched endo's.  My mistake on that is that she is in the same office. I do like the new endo's beside manner better than the first but of course she is going to agree with the other doctor. After all they are in the same office.  Anyway, Ann Carlson in New York is a God send. She was so helpful. We got it together and I just got the results back.  They show that according to his genes he would be a  simple virilizer. To me this is great  news.  We set up an appt to meet with Dr. New in Oct.  You are asking if I think it is worth it, I would say yes! You ask if you should keep pushing the question, I would say yes again! You have to follow up on every doctor and fight for what you want to have done. Yes they are doctors but they are human and sometimes and mother's intuition knows better.  Of course you should follow the medications but question everything. I have learned that through all three of my pregnancies. So that advice applies to every doctor not just endos. I'm not sure what kind of CAH your daughter has. I haven't read all the other posts but if you want to chat on the mb or through email, please feel free. I have gotten such wonderful, uplifting help on this board that without that I really think I would have gone nuts!!! Take care and maybe we'll run into each other at Cornell.

Sandra