Carol,

Our son had low sodium (120) and high potassium (6.5).  I’m not sure about the blood pressure.  I think it was in the normal range.  This would tend to favor PHA I suppose.

No explanation was given on why our son needs florinef now whereas before he didn’t.  They switched doctors on me so I couldn’t point out that apparent contradiction.  It seems to me that these doctors are just grasping at straws.  They’re prescribing treatment before they have a real understanding of the problem.  I guess they have no alternative.

I find it hard to believe that either me or my wife could have an autosomal dominant disease like PHA type 1 resulting in a salt wasting crisis.  Being born in 1960 there were no tests for any of this stuff back then.  If I had gone through a salt wasting crisis I would have been a dead duck.  My wife comes from a third world country (the Philippines) so she would have been an even deader duck.  There would have been no chance for us to outgrow our disease.  We would have been dead long before then.

So this appears to be a jigsaw puzzle where the pieces just don’t fit.

One quick question concerning Dr. New at Cornell.  According to her web site the only expertise in the genetic field she claims is the ability to detect the top 10 or so mutations in the 21-hydroxylase enzyme relating to CAH.  Can they do more than that?  Can they perhaps detect mutations in the CYP11B2 gene?  Has anyone here with an 11-Beta hydroxylase deficiency had them detect mutations on the CYP11B1 gene?