Jen, we just went through your situation. Elliot was born Dec 24th with what looks to be a pretty mild case.
It is a hard thing to reply to - even having been there myself, knowing the 50/50 chance, it is still hard to know whether to say "congratulations" or "I'm sorry" because the reality is somewhere in between. I'm glad that you're pregnant, yet I know how worrisome it is that you could be inflicting the disorder on your child. At the same time, I can relate to the next step - if the baby has the disorder, what do you do with that info? Prepare for the baby, or terminate? What a horrible decision to have to even contemplate. And it isn't something anyone but you and your husband can decide.
For us, the gene isn't known, so we couldn't do any testing for it at all. Even at 33 weeks, it was uncertain whether the baby had it from doing an ultrasound. Much too late to terminate a pregnancy, even if that was what we wanted to do. While we had decided to continue the pregnancy even if the baby was affected, that bit of knowledge helped us determine how much prenatal testing we wanted to attempt - fetal biopsy or fetoscopy were about the only other options for us, but we didn't do them because of the risk of miscarriage outweighed the usefulness of the information.
If you ever want to talk, email me.
Nathan(3) and Elliot(8 weeks) - ichthyosis-en-confetti
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.
email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"