I would also love to see responses for this post simply out of curiosity.

I have a 1.5 year old with SWCAH.  We are a secretive community, but from what I know there is a cousin on my husbands side with NCCAH and a distant relative at my side of the family tree who has three children with SWCAH.  I doubt that this cousin carries the same mutation as I do though, since I only carry a NC gene.

Someone I know told me she has a friend with a sever salt wasting child where there are affected cousins as well but I haven’t established a communication so I wouldn’t know any details.

I as one don’t feel it is my obligation to make everyone around me aware to test themselves during pregnancy.  The chances for others in the family to have affected children is slight and it’s not as if taking Dex proved not to hold any of it’s own risks.  The worst that could happen if they wouldn’t treat it in advance is that one of them would have a virillized girl which can be corrected through surgery.  It wouldn’t result in brain damage, death etc.

Just a slight correction to Louise’s post, if the father of your niece is a carrier, your niece would have a 50% chance to inherit that mutation as well, not just a 25% chance.

all the best

Risty