Cindy,

I agree with the doctor that more severe forms of CAH would have shown up by now.  Milder cases of CAH are usually NOT detected at birth or early childhood, but can be life threatening in times of stress.  My older daughter wasn't diagnosed until the age of 7, and only then because we have a wonderful pediatrician.  Unless newborn testing was in place 10 years ago in the state of his birth, this child's elevated levels would never have been discovered.  Unfortunately, I think it may be hard to get a good diagnosis while he is having so much trouble.  You are being a wonderful friend.  Maybe after he feels better, you can talk with his mom about the symptoms you've noticed and point her to a competent endo for evaluation.  Failure to diagnose mild forms of CAH can result in lost height, if not lost life.