Hi Maria,

It sounds very similar to my story....3rd child, no problems when born or home for one week. The NB screening nurse told me there was probably some mistake. The 17ohp did come back high.  In the meantime between the 1st newborn screen and the second (here they do 2...one before going home and one at two weeks), my pediatrician did many 17ohps and by the time the second newborn screen came back we were sent to the endo. He didn’t start meds until he was 30 days old and never looked or acted sick in any way.  This is why I thought that there must be  mistakes in his labs not to mention that his 17ohp one day was at 4000 and the next at 14000.  I wanted them to explain why it was all over the place but no one did.  So, I took it upon myself to prove to them that he didn’t have CAH.  That is when I contacted Dr. New and had his, my husbands, and my DNA done.  Not only that but I thought that they might be biased because he already had a CAH diagnosis, I convinced my genetics counselor here in TX to send more blood to  another DNA lab and tell them...suspect CAH.  Turns out both results, independent from each other, came back with the same result, SVCAH.  

Amber is right, you don’t have to go to NY to get the DNA done. You just have to send them the blood. I went because after they told me he didn’t have SWCAH, I wanted him to be one of her patients in case she ever came up with something...patients would have a first priority.  Like I said before, it was worth all the money and time.

I hope your little guy doesn’t have CAH and if you believe in your heart, like I did, that he doesn’t have it then DNA is, I think, your next choice.

Sandra