Our daughter has SWCAH but getting labs in the beginning was hard.  Some labs don’t do well with this kind of testing.  Even our HMO has been sending our daughters blood to Esoterix in CA to make sure it is done right.  The lab where our daughter was born was basically incompetent.  We ran the spectrum of levels and finally figured out it was them. So competency in the lab is always a question.  Make sure that part is right, first!

Our DNA.  My husband, mine, and our daughter’s all came back as no CAH (even though she had the level II prader, salt wasting tendencies, various levels from 10 ng/dl to 19,000 (still questionable - possible anomoly on the 19,000.)  Our DNA was then sequenced and we were found to have rare types.  Different but apparantly seen somewhere before.  However, we didn’t get any additional information on our "types" other than their letters/numbers and no one at Cornell or NIH has been able to explain any further about the types so I gave up with the "where did it come from?" part and focused on symptoms.

So there is a little more info for your data bank...

Good luck to you!  We all wish our babies didn’t have this and many prayers are answered when you run into someone who gets diagnosed and it isn’t as severe or was misdiagnosed altogether.  I hope it was y’all and it was all from just Bein early! 

RebeccaM