re: re: FRANTIC! -PLEASE HELP!
Jun. 18th, 2003   6:09pm

I called the endo today and he told me that the combination of the two mutations my baby has where already found on people with both SW and NC CAH.  What he told me didn’t really sound clear to me since the last time I spoke to him about it he said that these two mutations where so far seen only on people with NCCAH.  He contradicts his own words and I can’t figure out which part of the diagnosis I should believe.

What makes me concerned is the fact that while the potassium continued to rise for until a month after he was put on medication his sodium level was never extremely low.  If not for the low level of potassium there would be nothing to indicate that he might be a salt waster.

Is it possible that my baby should be a mild salt waster because of the high potassium and still have almost normal salt levels? 

Another thing that makes me wonder is if it’s true that some people with the same mutations my son has are salt wasters and others are NC, can I expect t0 have children with both, classical and non classical CAH?  How does the whole thing work?

Thanks for responding

Concerned Mother

Concerned Mother
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