Again, we sat through a 30-minute ultrasound. If we had been offered this chance before we knew there were problems it would have been awesome to see our little girl for 30 minutes, but when you know there are issues you spend the entire time worrying. The technician doing the procedure can't say what she is seeing, and those of us who haven't been to school for such education can't make out much more than a round head and sporadic movement on the big screen.
Once the doctor -- whom we really love -- came in to talk to us about what he saw in the results, we were just ready for any information he could give. He started from the top of her tiny body and addressed the issues with her brain. In addition to hydrocephalus the doctor quickly mentioned another concern. He called it holoprosencephaly, a condition where the brain doesn't separate into two hemispheres.
The condition has many different levels of severity, and the worst are accompanied by severe facial deformations. If you search it on google you will see the very scary possibilities, but we are grateful to announce that we have seen our sweet girl's face on the 3D ultrasound and no such deformations were evident. She is beautiful!
The scariest part of this diagnosis is the possibility of her dying before she is born. Many babies with holoprosencephaly are never born, and while some do survive, many of them never develop mentally past 10-14 months. But there are very mild cases where children live near-normal lives.
He noted the thick nuchal fold on the neck, and went on to address Mabee's hands. It looks like they come off of the wrist bent, and her fingers seem to be in a fist. We won't know the severity of this until she is born, but we hope her hands can be fixed after birth.
Her right kidney got worse from the first ultrasound to the second. The first showed that is was just dilated, but only two weeks later it was classified as polycystic, which means a bunch of cysts formed around the kidney to hold the extra urine the kidney wasn't producing. The good news is that the left kidney seems to be working correctly.
After pointing out the positives of a heart that looks good structurally, a straight spine, a diaphragm that is in tact, and legs that are short but straight, he again addressed the brain.
"I'm a glass half-full kind of guy, but her brain is very concerning," he said.
We talked for a few minutes about doing an amniocentesis to look at Mabee's genetic makeup, and it didn't take long for us to agree. The test provided us an opportunity to find some answers for all of the issues if they were genetically-based. The initial results from the test would tell us if she had Trisomy 13, Trisomy 18 or Trisomy 21 (Down's Syndrome), but the full results could give us even greater amounts of information about her genetic makeup and why some of the issues are present.
The test was physically uncomfortable for Joy, but the doctor said it all went very well and we would have the initial results in two days.