SandraHi Aimee,
I haven’t been able to post for a bit...well between nursing and changing diapers and trying to get in some sleep...doesn’t leave time for much else. To answer your question about SVCAH...I don’t think it’s harder to detect. I think it’s harder to diagnose. Most babies that are caught through newborn screen are usually classified as SWCAH and then after a while either because they don’t require as much cortef or florinef are re diagnosed as having NC CAH or SVCAH. In my 2 1/2 yr old’s case they had diagnosed him as SW until we went to Cornell and had DNA and Dr. New took him off of his florinef for observation. Turns out I was right...he wasn’t SW but still classical CAH. With my newest little one we had a CVS and the DNA was done to show he had SVCAH as well. How he would present though we would have to wait and see. So..I think that since CAH is such a spectrum, meaning a SV can act like a SW, SV or NC, it’s hard to say that they wouldn’t be caught in newborn screening. NC might be caught less often but hey...my newest little one passed his first newborn screen too...so go figure!!!
I agree with you that SVCAH isn’t so bad. In the big picture of life it could have been much worse. I hope my boys feel the same way. I plan on raising them with the belief that whatever they want out of life they can achieve...CAH or not.
Sandra