So many people have asked us about having another baby. What a loaded question! It's hard to explain our conflict, and I don't think I've ever written about it, so I'm going to today.
When we learned about Emma's diagnosis, one of the first things they wanted to do was an amniocentesis. Now, if you don't know what that is, I will explain. Basically, they stuck a long needle into my belly to collect amniotic fluid from the amniotic sac. They used an ultrasound to guide the needle so they wouldn't hit the baby's head. I kept my eyes shut but Matt watched the whole thing. I think he was a little nervous though...he was standing the whole time but had to sit down at the end. Now, they told us that the amnio was going to determine whether the HPE was genetic or not. Well it came back normal, no chromosomal problems, so we were relieved. However, that is where we were mislead. Turns out these doctors don't really know too much about genetics. Thank goodness we went to see a genetic counselor after Emma was born.
The genetic counselor cleared up our misconceptions about everything. The amnio tested for chromosomal problems, such as Trisomy 13 or 18, which Emma didn't have. But what we actually needed was to test her blood for one of the four known genes for HPE. So we had a sample of her blood sent to the
GeneDx lab, one of only a couple labs that does this kind of testing. They determined through testing that she had the SHH gene. They then determined through more testing that I am a carrier, and passed on the gene for HPE to her.
We were devastated! How could we possibly bring another baby into this world, knowing that he/she could either be a carrier or worse, have HPE? We were already worried about Nate. Through the advice of our genetic counselor, we ultimately decided not to have him tested. We just didn't want to take the chance! And therein is our dilemma...is this God's way of telling us we are done having babies, or is this God's way of telling us to trust Him more?
We still haven't figured it out...but we are leaving it up to God, for now.