3. Maternal Fetal Medicine
May 4th, 2017.
The next morning I went to work at North Memorial hospital as usual, which thankfully happens to be where the MFM clinic is located. I went to the MFM office at 7:30 that morning and told the receptionist that I needed an appointment that day. They quickly got me scheduled for an 11am appointment after talking with a few people. So we waited. And we worked. And we worried. And we prayed. At 10:30 Justin arrived and we sat on a bench in the sun outside of the hospital, and waited. Everything seemed so surreal. Life was going on normally all around us, and we were waiting to find out what was wrong with out baby. Like all normal people we prayed it was a mistake, and that the specialists would tell us that the OB was concerned for nothing, they see ultrasounds like this all the time. We prayed, we waited, we worried. At 11am they took us back into the ultrasound room and performed another ultrasound. They were so nice, and so caring. The tech talked us through everything that she was measuring, and explained what she was looking for. She said that the results from the previous ultrasound were the same as what she was seeing on the screen. His arm and leg bones were too short. His vertebrae weren't formed properly. His rib cage was too small. His little heart was beating fast and strong though. All I could see was that he had his hands up to his face, trying to suck his thumb like a normal little baby. He looked so completely normal and perfect to me. She finished and went to go get the doctor.
After several, long, terrifying minutes the doctor, the genetic counselor and the nurse came in the room. You could immediately tell by their faces and how they were talking that something was wrong. The doctor began walking us through the ultrasound results, and told us that our little boy most likely had either thanatophoric dysplasia or achondrogenesis. As she said those disorders, I began crying. After reading all of the information I could the night before, I knew that these were lethal disorders, meaning that our little baby would either be stillborn, or die shortly after birth. Our little baby’s rib cage wasn’t developing properly, meaning that his heart was growing normally, but that there was no room for his lungs to grow and develop. Without his lungs growing normally, he would not be able to breathe on his own after he was born. The doctor and genetic counselor continued to talk us through what was happening, they answered all of our questions. They were so kind and compassionate, and I will never forget that they both started crying as they told us what would most likely happen with our little baby. They laid out all of our options, which included genetic testing to get an official diagnosis, termination of our pregnancy, and further prenatal care. We told them that we did not want to end our pregnancy, we wanted to spend whatever time we could with our precious little boy, even if it was shorter than we had expected. We decided to go ahead with the genetic testing to know for sure what our baby's diagnosis was. The physician then performed an amniocentesis to collect some of the amniotic fluid for testing, and sent me to get my blood drawn for additional testing. She said the results would take about a month to come back, but scheduled us for a follow up in 3 weeks.
We left the appointment that day stunned, sad and confused. Life seems to stop for us that day. There was a feeling of being helpless because there was nothing we could do to change the outcome. Nothing we could have done differently up until this point, because what we were dealing with was a rare, genetic disorder that is caused by one, single tiny mutation in one gene out of millions. Your mind immediately starts with the what ifs, what if I ate something, what if I breathed a paint fume, what if I had a glass of wine? Your brain tries to find a reason, an answer, and there are none. We thought we had done everything right, but it didn’t matter. It was a blessing and a curse that I have a background in genetics and research involving gene mutations, because what was happening to our little baby was a concept I understood very well. I know that what happened to our little baby was just a horrible, random chance, and that nothing I did or didn’t do could have caused this. Gene mutations happen every day. While someone’s baby has a random gene mutation that gives them blue eyes versus brown eyes, my poor little baby had a gene mutation in the exact wrong place. There is no why, except that these things happen, unfortunately. God did not cause this, I did not cause this. So while my brain understood what happened, by heart didn't and it was breaking. I think Justin and I were just both so stunned that night. Our baby was supposed to be normal, he was supposed to be healthy. We were in shock, and our lives stopped, even though the world continued to move faster and faster around us.