Hi Chris -
Thanks so much for your offer. My sister lost her baby almost 15 years ago - she also tries as much as she can to talk to other couples who are going through the same thing as she also thinks no one can understand unless they've gone through it. The baby she lost was a girl so, unlikely that it was XLI - but, I'm being tested now so if I'm a carrier, she will have her son tested. I know it's a long shot, but her husband said that he had really dry skin as a baby - they thought it was eczema - it's possible that he has XLI and she's a carrier - if so, I can imagine that the baby they lost, Emily, might have been homozygous for the deletion. The chances are something like 1/25,000. . .. but it might still be good for them to be tested - they never had a reason for the stillbirth and I think it might help her to know. . . .
Back when she was pregnant with Emily and even with her son who is now 10, they didn't test for estriol levels I don't think. ...
BTW - the genetics MD we saw this week told us that, at least in California, there's a chance they won't flag low estriol anymore. It might not be worth it for them - they started flagging low estriol to pick up cases of Smith Lemmli Opitz but they're finding at least 10 cases of XLI to every 1 case of SLO. They'll still test estriol because low AFP, HCG and Estriol is still a marker for trisomy 18, but if you just have low estriol, it won't flag as a positive test for anything and it would be up to the ob to look into it further. Based on the fact that the ob who called to give me my triple screen results didn't even mention the low estriol. . . . I'm going to guess that a lot of women with XLI babies won't know which would be disastrous if they go over their due dates.
I guess if they stop flagging for estriol, it would be good to somehow make pregnant women aware and ask their doctors to see their test results.