Carol and Sandra,

Thanks as always for your input.

Carol, you would be correct then in stating in my case that genotype does in fact match phenotype; however, with the kids everyone seems to be just scratching their heads. 

Sandra, Jake was first classified as a non classical, although when he presented with the exact same genes as Savannah they were all scratching their heads again, because Savannah had a crisis after birth, and we almost lost her, because we had no clue in the beginning.  They just sent her home unmedicated.  Jake has never had a crisis.  He’s even had the stomach flu once.  Instinctively I gave him 2 jugs of Pedialyte that night.  He was two I believe.  Dr. New and her team even said... "he can’t be a salt waster, he’d be dead by now."  Our endocrinologist at home explained it as imagining salt wasting is the black area, non classic is the white area, imagine also that simple virilizing is the gray area.  Jake is in the gray area headed toward the white, and Savannah is in the gray area headed toward the black.

Carol, you are correct in assuming they both got their father’s exon four mutation, because it was on the same allele as their intron 2 mutation (Sandra, right again it was the same as Jackson’s A-G).  So all they got from me was the exon 7 mutation, presumably.  I would like to know more about the genes that counteract all of this because obviously it would enhance (or decrease) adrenal production either way.

The only symptoms I had were under physical stress such as kidney stones and childbirth.  I was moody as a child, and occasionally depressed.  As far as Cortef is concerned... so far so good.  Hopefully it will at least clear up the cysts.  They were painful.

Thanks,

Adina