re: Misdiagnosed with cah???
May. 8th, 2003   4:33pm

It might also have been my post in Dec. 2002 that you’re referring to.  Our son who was thought to have SWCAH, it now turns out he has PHA which is also a salt-wasting condition.  The ACTH stim test should clinch the diagnosis either way in terms of CAH.  It will either rule it in or rule it out so I would definitely recommend having it done.

We are still waiting for our genetic results which are supposedly being done at Yale for free.  The problem if your child doesn’t have CAH, is that the genetics for other related diseases like PHA are still in their infancy.  We’ve been waiting for three months for our results and still nothing.

Is your child a salt waster?  That should be obvious by now.  If he/she is and it’s not CAH then it may be PHA.

Tom
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