Amber,

If she is only having issues with her sodium did they check her for PHA? Maybe her issue is only with sodium if everything else is fine.  I know it’s hard to accept that they may have misdiagnosed your daughter.  Do they do one screen or two in your state?  My first son was diagnosed after having his two newborn screenings come back abnormal. He had a stim test done that confirmed the diagnosis of CAH. We also had DNA done, at my insistence, to make sure the doctors were correct.  The funny thing is that when  I got pregnant with my 4th (son), we had a CVS very early on to find out the sex and find out if the baby had CAH.  The DNA showed that it was a boy and that he did have CAH. He had the exact mutations his brother had.  The funny part is that he passed the newborn screening with flying colors.  He wasn’t even near the cutoff for that day....makes me wonder how many kids they missed.  The screening office said that they would have possilby caught him on the second rescreen at two weeks old but by then my little man was already on his medications so he passed the second one too.  So as far as the state is concerned, he doesn’t have CAH eventhough he is on cortef and flornief and has had DNA to prove he has CAH.  So, I guess just because the screening didn’t catch it, it doesn’t always mean they don’t have what they were screening for.  It’s just a screen. Luckily though, you were able to have her seen before anything terrible happened. Now, you have to just figure out if it’s CAH or PHA or something different altogether.

Good Luck,

Sandra