Congratulations! You’re pregnant, but…
“Can you talk?” Those were the words I received after my wife had just given me the greeting and said good morning to me. It’s been 16 weeks and some days since she had gotten pregnant. “Sarah just called, and the results are back.”
My wife found out that she was pregnant shortly before I took off for my Ph.D. residency in Florida at the end of December. However, I wouldn’t learn about it until I returned. It was the happiest moment of our marriage. She filmed me as I fumbled through a bag of clues, with the last clue being a onesie with “I poo’d” on it. I remember sitting there on the bed in disbelief, asking her if this was a joke.
We would go to our first doctor appointment a few weeks later to make sure everything is okay with the baby. By the time the second one came around by week 10, that’s when things started to go downhill. While the doctor is taking measurements of the baby during the sonogram, I noticed that he kept focusing on one measurement. “Did the nurse already get your blood?” asked the physician. My wife responds in the affirmative. “I’d like to speak to you both about the sonogram. Just come to my office when you’re ready.” I had a feeling something was wrong, but I lacked the knowledge at the time to understand what it was.
The doctor started telling us about Down syndrome and how it corresponds to the measurement of the nuchal translucency. The happiness of our pregnancy had just been snatched from under us as we were told that a nuchal translucency of 1.5mm is normal; our baby’s was 3.9mm. “There’s a chance everything is fine, but you should probably see a specialist.” He said this as he wrote out a piece of paper that would introduce us to our next doctor. “We should have your results back for the Harmony Prenatal Test For Trisomy 21, 18 and 13 in two weeks.”
The waiting game. No one wants to play the waiting game. It’s like torture. You sit there wondering if everything is okay. You want answers, but you cannot get them. With overwhelming optimism, I tell myself and my wife that everything is okay. It would only be a few days later that we would be in the specialists office.
“What do you understand about the measurement of the nuchal translucency and why your doctor had you to come in here?”, the doctor asks. My wife repeats everything her other doctor told her about Down syndrome and heart defects, about the nuchal translucency being a certain size, and how it is just a diagnostic tool. We were there to get another measurement, but we also ended up getting a Chorionic Villus Sampling (CVS). It wasn’t planned, but the window for getting one would end in two days.
CVS is a diagnostic test for identifying chromosome abnormalities and other inherited disorders. It can either be done through the cervix (transcervical) or the abdomen (transabdominal), all while using ultrasound as a guide. My wife’s blood pressure shot through the roof, and her heart rate is about 150 bpm while they are taking her vital signs before the procedure. They took a needle about a foot long and inserted it through my wife’s abdomen and manually used a pump to get a small sample of placenta.
When they measured the baby’s nuchal translucency again, it was in the high normal range, to the relief of both of us. “Baby, did you see the numbers?”, I asked excitedly. She took three measurements, and two of them were significantly less. It was 2.5mm. That’s a lot different than the 3.9mm, I thought. After all, nine out of 10 babies with a measurement between 2.5mm and 3.5mm will be completely fine. There’s no way we could statistically be 10. We left out of the room with an order for bed rest of the next two days for my wife and were told we would have the first set of results back within 24 hours.
The waiting game again. Although it is not as long, 24 hours seems to turn into a week when you’re expecting something. The next day we’re told there are no abnormalities in the chromosomes. However, we were still directed to see another specialist at Children’s Hospital to check the baby’s heart. A large nuchal translucency is indicative of either a chromosomal defect or a heart defect. We were able to get an appointment right away. That day would turn out to be the longest day ever.
There were plenty of sonogram pictures taken and heart rate samples. After they had been done, we were told to wait in a conference room so the doctor can discuss the results with us. The doctor wanted to have time to talk to us personally just in case we had questions; so she finished up with her last two patients. Still in the face of overwhelming optimism, I convince myself that everything is fine. She just wants to make sure that we knew why we had to come there, and we were going to be told that there’s nothing wrong. Right?
This would not be the case. We were told that the baby has a very rare condition caused by a combination of four congenital heart defects, Tetralogy of Fallot. However, the baby only has three. Tetralogy of Fallot defects causes oxygen-poor blood to flow out of the heart and into the rest of the body. When the baby is born, he will either come out with blue-tinged skin, from a lack of oxygen, or pink (normal). Even if he is pink, he will eventually turn blue. The baby would need to have surgery as soon as he is born. We won the lottery. There are only 20,000 cases of tetralogy in the United States every year. The doctor assured us that it could be treated with surgery. The two primary issues are that the baby has a hole in his heart and that a restriction of … I tell myself that it’s no big deal. It’s treatable. As the doctor stated, there are Olympic athletes who were born with this condition. As soon as the physician leaves, my wife breaks out in tears. I stay positive. It can be treated. It’s not a big deal. The baby will be all right.
“The baby will be all right…” I’ve been saying those words since we were first told about the nuchal translucency. I had been in denial all of this time and didn’t want to admit to it. I kept stating that, “God willing, everything will be okay.” A couple of days later, we received another set of results back from the CVS. We were told there is a chromosomal abnormality. My heart sinks. The doctor relates to us that the baby has a duplication in chromosome 13. He has an extra piece of chromosome. The duplication is with chromosome 13q32.2 to be exact. I try to find any information I could, but duplications have not been researched as much as deletions, so I find out the hard way that the research for this issue doesn’t exist. There are several outcomes from this news. The baby could, in fact, be okay if one of us has this abnormality. However, there would be four possible scenarios, and only three of them would be good. Both of us had our blood drawn, and it would be two weeks before we would get the results.
“Can you talk?”, my wife asked. I didn’t know why she wanted to talk. “Sarah just called, and the results are back,” she typed. I forgot the doctor had called the day before and left a message telling us that both of our results came back normal. It didn’t occur to me at the time that if we are normal, then this abnormality formed after conception. “Yes,” I replied. My wife calls me on my cell phone with the doctor on the line. I’m at work. I type down everything the doctor said. I didn’t have much to say. I thanked the doctor, and as soon as she’s off the phone, my wife is in tears. “I’m on my way home.”
We were told that the baby has a duplication from cytogenetic band 3q25.32 to 3q29 and a deletion from cytogenetic band 13q33.3 to 13q34. We’re not dealing with one rare genetic disorder; we’re dealing with two. The doctor tells us that the baby will have gross mental retardation, intellectual disabilities, microcephaly, and facial disfiguration. However, the research we were given highlights even worse outcomes.
After I arrive at the house, I sat in the bed and held my wife as she cried. I don’t know what to think at this time. I’ve been trying to be a rock, and I try not to think about it because I need to be there for my family. My wife depends on me, and the kids rely on me. Tears well up, but don’t fall. I sit silently and comfort my wife waiting on reality to punch me in the face.
Without making a sound, tears begin to stream down my face. All of my dreams, crushed. The realization of the fact that my son will not have a normal childhood finally set in. You never actually understand what parents with special needs kids have had to go through until you’re there, in their shoes. We only see the result. You try and find a way to blame yourself. At times, you may even blame God. But you know it’s not your fault or His. It’s not your spouses. Sometimes these things happen.
Tomorrow will be 17 weeks. We’re no longer looking forward to having a baby shower or posting up an announcement on Facebook. Much of the cheer and fanfare we received from friends and family have faded into the shadows as we focus on what life will be like after our son is born. I still sit silently. Tears are streaming down my face, unbeknownst to my wife just how much it hurts. I still have a family to take care of. I still have people who depend on me. But life has just gotten more complicated.