The doctor told us that all of the chromosomes were there, and that was a relief, but the #6 chromosome had some extra matter on it. They aren't sure if that's what is causing the problems for Mabee, so in an effort to rule out some possible causes they had Joy and me go get our blood drawn. They will send the blood off to draw out a picture of our chromosome's, and if either of us has the same malformation on the #6 chromosome it will mean the issues with the baby aren't caused by the genetic makeup. They would have to look elsewhere for the cause.
We also got to spend an extended amount of time with the doctor talking about holoprosencephaly. He basically said he wasn't positive that was what the problem is, but he's pretty sure. So we are planning a trip up to Dallas this month to get an MRI done on the baby. This will give us a clear picture of her brain, so when we go to see a neurologist to consult about what we should do at birth he/she will have a good idea of what we are dealing with.
There are four different stages of holoprosencephaly, and it looks like Mabee has one of the less severe ones. It's called semilobar, and it basically means the lobes of the brain haven't separated. This means the part of the brain that holds the spinal fluid is right next to the brain.... not good.
Our doctor estimated 1 in 5,000 babies in our area are delivered with holoprosencephaly, but the numbers in many case studies I have been reading paint a much tougher picture. About 1 in 250 babies formed in utero have the disorder, but only 1 in 16,000 live through birth.
SO, there are the facts. Now we wait again for two weeks. I think both Joy and I are at peace right now. There are a lot more things to do, many more doctors to visit and consult with, and an unnumbered amount of hours we will both spend thinking about this baby girl we love, wondering if we will get to meet her. I sure hope so.