Hi Susan,

Wow, your experience with the newborn screen is all to familiar and so similar to mine.

Jackson's first newborn screen came back mildly abnormal. The nurse said, "oh, don't worry, it'll clear up on the rescreen. It is only mildly abnormal. Well, the second one came back more abnormal. This was strange anyway because the first one should have come back as high as the first.  Anway, to make a long story short...we were referred to an endo and she diagnosed his as SW. I guess because him being a boy it was hard to tell becuase on a girl you have the virilization issue.

He had never, before starting meds, ever had a crisis or come close to one. His lytes were always great. He ate and slept like he should. It seemed like to me, after talking to lots of parents, that he could not be a SW. That is why we did the DNA to find out what mutations he had and to find out what type he would most likely be. This is where we discovered that he was not a SW but most likely a SV. He is on cortef but not florinef.

If you can find your daughters numbers when she was diagnosed I would love to compare them to Jackson's. I'll pull mine out too.

Thanks for your quick response. I guess I'm on a witch hunt to see if I can get him rediagnosed as a nonclassic but I'm afraid that will be hard to do with the DNA going against me. The only hope I have is to have my husbands DNA tested and find out what his genes show.

I have the SV gene so we are assuming that my hubby carries the SW gene but we're not sure.

I know that there isn't too much difference between nonclassical and SV classical. Both don't have to worry about a salt wasting crisis but I want to get the best possible diagnosis for my son.

Sounds nutty, I know, but it makes me feel better to keep researching!

Thanks

Sandra