AdinaHYes, we were tested.
My husband is a strong carrier with two mutations on the same allele. His mutations are on intron 2 (SW) and exon 7 (V281, NSW). His other allele is normal. My mutations are on different alleles. I have one on exon 4 (SV) and one on exon 7 (V281, NSW). So the kids got all three mutations (Robert’s intron 2 and exon 7 on the same allele, and my exon 4). They present at different levels of salt wasting, even though they have the same genetic mutations. I am a non classic based on my mutations (lesser mutation wins). Please note this is different from the original posting I made to Sandra and Carol. I originally thought hubby was the one with exon 4... it was me, I rechecked the sheet.
So basically we can either have carriers or CAH children, but no children without mutations. The possibilities in our situation are as follows: all three mutations (like Savannah and Jake) intron 2 coupled with exon 7 same allele and my exon 4, or intron 2 coupled with exon 7 same allele and my exon 7 (which I guess would make a non saltwaster), hubby’s normal gene with my exon 4 which would make a carrier, or hubby’s normal gene with my exon 7 which would make a carrier. Given these odds we would be "okay" with having another child, but have decided as a couple against it.
I think three is plenty to put through college in this day and age. Also with two of the three children being girls... we have at least two proms each, cotillions, tap lessons, weddings and clothes clothes clothes (and shoes)! I could go on!
Thanks for your interest.
Blessings,
Adina