I'm 21 weeks pregnant and just got a call from the genetic counselor that my baby has tested positive for x-linked ichthyosis. I have a 16 month old son who doesn't have XLI so I'm just starting to do research to find out what this is all about. My triple screen test came back abnormal - not just for estriol, but also high for both AFP and HCG so the baby was at risk for Downs and neural tube defects. The ultrasound and amnio showed nothing wrong so I was relieved. When they mentioned XLI as a possibility, I have to admit that I thought "if that's all it is, I'll be relieved". Well. . . .that's what it is and now I feel a bunch of emotions - worried, guilty, disappointed, sad. . . .
I'm a scientist with a degree in genetics but I still don't know much about this disorder. Surprisingly, either did the genetic counselor I spoke to today! I have a call in to my pediatrician who can put me in touch with a doctor at Children's Hospital who handles these types of cases.
What can I expect? I can't find many pictures online - how severe can this be. I'm a worrier so I immediately started worrying about how my son will be made fun of at school etc. . .etc. . . What is it like for kids with XLI?
I'm glad I found this board!!