Diagnosis: Agenesis of the corpus callosum
By Gracie’s Mother
I’d spent a fortune on pregnancy tests for weeks before I found out I was pregnant. I felt pregnant, but the tests kept coming back negative. That was until one evening early in October that I told myself that I was going to take one last test…just to be sure. It was positive! (As I write this I find myself smiling: I haven’t felt like smiling for weeks.)
I Was Thrilled!
The next morning I couldn’t sleep. I took another test at about 4:00 a.m. and it too was positive. It was official, I was pregnant! I loved, loved, loved being pregnant and couldn’t wait to wear maternity clothes, have that pregnancy glow and get that belly.
The first 17 weeks were uneventful, no morning sickness, a little nausea in the evenings, – no big deal.
Just before Christmas, at 16 weeks pregnant, I went in for my AFP screening. I was a little nervous about it but I believed that everything would be ok.
Three days after Christmas, I received a call from the nurse at my OB’s office, telling me that the screening test came back indicating Down syndrome. I asked her, “how could this be, I am only 28 years old?” She told me that the test indicated there was an elevated risk of Down syndrome, and that I needed to have an amnio and a level II ultrasound in San Francisco.
I had to wait five days to get the amnio. Unfortunately, my husband and I were both out of town, and not together. I was with my sister-in-law, who did her best to comfort me. I sobbed for several minutes and then called the nurse back to ask more questions. I was so confused. I then found the nearest computer and began doing research on false positive AFP tests. I found that false positives are very common* and that calmed my nerves a bit.
After many more tears and questions, I called my husband. I told him what the nurse said and he very bravely said to me, “Remember that pamphlet? It said that false positives happen a lot. Don’t worry, everything will be fine.” So I too adopted that positive attitude and we prepared for the best.
The following week we made the three-and-a-half-hour trip to the medical center. As we rode the elevator to the eighth floor my heart was beating so loudly that I was sure the others could hear it. Once in the office, I relaxed some. We went in and met with the genetics counselor first. She was so kind and spent as much time with us as we needed. She asked if I wanted to do an amnio. I immediately choked back a tear and told her I’d do whatever they suggested.
Soon we were in doing the level II ultrasound, one technician did the ultrasound first and then she got a doctor. We saw our baby for the first time. The baby was beautiful and looked very normal to me. I was convinced that everything would be ok.
The Doctor Wasn’t So Sure
He began to conduct an ultrasound for about 20 minutes. He never said a word the entire time. His face was grim and he looked very concerned. As I lay on the table in that dimly lit room, my heart began to pound.
The doctor finally delivered the news that there appeared to be fluid in our baby’s brain. He said he wasn’t sure what was causing it. I asked about the prognosis, and he said anything from mild retardation to needing constant assistance. He brought up the idea of termination.
I was lying on my back, choking on my tears and feeling them run down my face. The doctor suggested doing the amnio; he thought that it might give us some answers. The amnio didn’t hurt. Nothing hurt as badly as my heart. My husband held my hand and we left that day with nothing but sad news and plans for more tests.
Because I was at 17 weeks gestation the doctors told us that we had some time to decide about ending the pregnancy. I was in no way ready to terminate. Over the next several weeks we traveled down to San Francisco for another level II ultrasound; a fetal echocardiogram (they thought there was something wrong with the heart, – it was ok); and at 21 weeks gestation a fetal MRI.
I Felt Like I’d Been Hit by a Truck
The fetal MRI was our last effort to see how bad the defect was. Every test told us more information about our baby’s brain defect. The MRI confirmed what had been seen in the sonograms.
Our baby was missing the corpus callosum (which connects the right and left hemispheres of the brain); had a smaller than normal brain; lacked brain tissue which caused enlargement of all four ventricles in the brain, and the part of the brain that controls respiration was inadequately sized.
The doctors told us that there was a high probability that our baby would die at birth, and if the baby lived there would be major disabilities.
“This is it,” I thought, “we really have to lose our baby.”
Up until this point, we didn’t know the sex of our baby. My husband and I both looked forward to that moment of “it’s a…!” We knew that wasn’t going to happen now, so I asked about the sex of our baby. The counselor told me that our baby was a girl. “A girl,” I thought, “wow, I would have loved to have a baby girl.”
We Named Our Baby Daughter “Gracie”
The next several days were a blur. We decided to have my labor induced because the doctors had suggested an autopsy, and I wanted her to come into this world as gently as possible. We went home for a few days and gathered our family and friends.
Gracie was born silently on February 3, 2005 at approximately 5:15 a.m. She never took a breath. The nurse cleaned her up, swaddled her in a blanket and handed her to me. My husband and I sat silently together with our daughter for the first and last time. We both cried for her, not for ourselves.
Here I sit just 20 days later still in the darkness of loss. I read somewhere this quote: “You couldn’t live without me, How can I live without you?” I think about this everyday, sometimes all day. I feel guilty that I couldn’t protect her from whatever caused this. However, I feel OK about the decision to never let her feel pain. While making our decision, I kept feeling like terminating would be so selfish. Then I realized that it not would be a selfish act.
Some days are more painful than others, and some moments make my heart ache. Although I haven’t spent a night without her blanket in my arms, I know that there is a lesson in all of this: Loving Gracie meant letting her go. It meant trusting in God and in myself as her mother. Because of Gracie, I will be a better mother to my future children.
Thank you my sweet baby girl – I love you!
*Editor’s note: The false-positive rate for maternal serum screening tests is about 5%.