Turners Shmurners

"Hi Mom! Sorry the doctors and lab people scared you and Dad for a bit there with making you think that everything might not be perfectly right with me. I've known all along that I'm the most perfect and beautiful baby in the whole world."

A little over a month ago (while I was in the middle of a hike in Hawaii!), my doctor called to tell me that there was some concern over some lab results they had gotten back. He asked me if I had heard of Turner Syndrome, which I hadn't, then explained the best he could with the horribly spotty cell reception we had.

Mayo Clinic's explanation is this: Turner Syndrome, a condition that affects only girls, and results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

My lab results detected no second X chromosome. So there I was, in the middle of vacation, left with this vague information and that there was a 65% chance that my daughter had this chromosomal abnormality. I truly didn't know what to think. Was this something to freak out about or was it absolutely nothing? Being so completely confused about it all, I of course chose to freak out. I read everything I could about it that night and pretty much cried myself to sleep. I usually feel peace about things if they are nothing to be concerned about, but all I felt was confusion. Let's be honest, I was just taking the blood test that they suggested to find out the gender of the baby early. It never crossed my mind that other things might show up. I've had 4 healthy children, of course this one would be too!

Once I was back in town, I was able to meet with my doctor to get more information and to find out what to do next. Honestly, my doctor didn't make me feel too hopeful when he told me that most of the time when he saw lab results like this that they ended up being accurate. There's not a lot to do with Turner Syndrome during pregnancy other than mentally prep, but I knew I would lose my mind going the entire pregnancy without knowing for sure, so I decided to go ahead with the amniocentesis that would confirm one way or the other. 

I had to wait 2 weeks for my amnio appointment. In the meantime, Tom and his dad gave me a blessing, and both sides of our family fasted and prayed. This helped ease the emotional roller coaster I was on, and the more time that went by, the more hopeful I felt. I had read so many stories of people with similar lab results who later found out that it was a false positive. Like so many false positives!

The amnio was a weird, emotional, slightly painful appointment, but all went smoothly. The extremely thorough ultrasound they did at the beginning (pic above) looked perfect, although they warned me that that would give no indication of Turners at this point. The doctor who did the amnio was so encouraging though and I truly left feeling like all was well.

Two days later, the doctor called telling me that the early results (FISH) came back (just a small sample of the cells) and that "Good news!" everything looked perfect at that point. I was celebrating, but Tom was still cautious about getting too excited until we got the full results back. About 2 weeks later, the doctor called and told me that our baby was indeed absolutely perfect! :)

Such weird emotions about this whole process. Deciding to get pregnant was such a hard decision this go around (hence the larger than normal gap for us). After so much prayer and thought, I finally had one overwhelming experience that confirmed to me that, yes, we should have another, although the impression that was left with me was that this would NOT be easy and that it would absolutely be a sacrifice. So when this came up, I couldn't help but wonder if this is what that feeling meant. Maybe we were going to have a child whose body wasn't perfect and would require a bit more from us. More than anything, I was just worried for this sweet girl and wondering what challenges she might face. Not that we won't have our road of challenges ahead of us, but I'm glad this particular concern is over. Now just back to the simple task of being responsible for raising 5 little humans! ;)