As a couple, deciding to share your joy and secret with the world can be one of the most exciting, yet terrifying moments of your life. You see, we dealt with multiple miscarriages and years of infertility before being blessed with our daughter Dalli. We also had a miscarriage at 12 weeks before this pregnancy so we are always on edge with “going public” because having to tell multitudes of people that you’re no longer pregnant is a truly emotional ride. Appointment after appointment went well, possibly even normal you could say. Well, with the exception of being considered a “geriatric pregnancy” (lick yourself Kaiser…. I’m 34). So we prayed together as a family, and decided it was time to announce Dalli would no longer be an only child. Upon announcing we were met with an outpouring of love and support from everyone and things carried on they generally tend to do. It wasn’t until our second trimester that everything got turned upside down.
Second Trimester
I opted to do the genetic testing that’s offered as part of your second trimester testing, as I did with my first daughter. There was a marker that came back in the blood work, which means you get referred to see a genetic counselor and see a specialist who performs a level 2 ultrasound. Two days before Thanksgiving I go to this appointment. I would love to tell you what the genetic counselor said, but in all honesty I know these tests have a very high rate of false positives, so I really just wanted to get to the ultrasound part, where the doctor would check over the baby, tell me everything was alright, and I could proceed with my last minute Costco run with the rest of the world. Till this day I will praise the efficiency of this doctor, I did not lay there in silence for 20 mins trying to read his face, it was actually only a couple minutes until he said “I do see some things that are troubling”. I have this gift where in times of crisis, I become very business like. I sat there and listened to him explain the abnormalities he saw in the babies brain and facial features, making endless mental notes of words I wanted to research as soon as I could leave. The doctor explained and even showed me on the screen that where the babies fore brain should be divided into two parts there was no division and that this is something that develops in week 5 or 6, so there was no chance it would miraculously form as the pregnancy continues. I had so many questions in this moment; What would this mean for brain function? Quality of life? What causes this to happen? What is the prognosis for the baby? Was it my fault? He did his best to ensure me first and foremost it was not my fault. He explained if we did an amniocentesis it would show if there were any chromosomal abnormalities that would explain why this happened, which would not change our prognosis of what the ultrasound showed. We decided to do the amnio because it could tell us the likelihood of this happening again should we choose to have another baby.
The Specialist
My O.B. was informed of the findings and got us an appointment with the Perinatologist the very next day, so we did not have to wait long for answers. The rest of my day (and most of the night) was filled with my own fervent research which only led me in circles, and searching scripture for comfort. This was one of those rare times for me when science and faith become intertwined as you try to gain your own understanding. Our Perinatologist saw the same things as the other doctor but was able to give us more in depth answers (and in English not doctor speak) Our sweet baby girl (whom we had began to call Daisy) was diagnosed with Alobar Holoprosencephaly. This was something I had read about and I was fairly certain it was not good. I again went over all my questions, but thankfully got answers this time. Let me throw some science at ya for a min. Alobar Holoprosencephaly is when there is a complete failure of the brain to divide into right and left hemispheres which results in the loss of mid-line structures of the brain and face as well as fusion of the cavities of the brain, known as lateral ventricles and the third ventricle (which are normally separated). The prognosis depends on the sub-type. The Alobar Holoprosencephaly is the most severe type of the defect and the affected fetus are usually stillbirth, or die soon after birth, or during the first 6 months of life. We were given the option to terminate the pregnancy, but without even glancing towards my husband I knew neither of us wanted that. It was not our decision to make. We returned home to begin process this information, and get ready for Thanksgiving, we were after all, hosting both our large families this year and Thanksgiving was only a day away.
Love u