I guess the question is, had they not been able to identify something with the testing in your baby, would you ever have known about it at all that he had something.  since the treatment for CAH may have possibly interfered with elecrolytes and actually dosing florinef too if it is PHA--that would make the situation worse would it not?   All sounds like very complicating stuff to me.  however, having used the board for some time, even when kids are diagnosed with such metabolic conditions, sometimes it can be so mild they take years to show up.    What your son has in other words could be so mild it may never have presented any really fatal symptoms.   Should the condition (whatever name they put on it) be of a milder variety than some of the perhaps more sever versions of PHA,HA or whatever they call it, and either yourself or your wife had it, unless either of you were really ill as children, it is possible your baby would be fine just being observed by the right Doctor every now and again with electrolyte testings of the blood.  It makes me wonder really if it needs treatment at all when both of you are seemingly healthy and not or never have displayed any similar symptoms as described.

 I’m not a genetic expert and I am in fact hopeless really where that is concerned but I am just thinking that when you or your wife were born they did not have all these exotic tests at birth for babies to rule out certain conditions (and they don’t even have ones for PAH or HA I assume now!) so it would not have been picked up anyway in either of you unless it had severely affected aldosterone levels and sodium and potassium levels in some way to great degrees.   Aldosterone is very potent hormone when compared to Cortisol.  I guess if you are short by a smidgen it would hardly make a dent,  but if it were a considerable amount you were lacking or over producing, you would suffer all the symptoms associated with either scenario enough to be making your life a misery if not very hard without treatment.

I think Carol and Sandra have a good point.  I’d even look further into seeing several different Doctors actually to get a wide range of opinions on top of the one recommended.  Maybe even have genetic tests yourselves to search for answers if that is at all possible.