It was the longest thirty-six hours of my life waiting for the next appointment. My family was on edge and we moved like zombies until Friday came. The morning of our appointment, I felt surreal. I sat at the kitchen table, trying to stay cheerful to trick the anxiety. I googled every finding from my scratch paper, looking to self-diagnose my daughter. This thing called “Trisomy 18” kept coming up in the results.
Just two weeks before, we settled on her name, Tessa. I kept thinking to myself that this was not how this was supposed to be. God would not do this to us, God does not make mistakes. Nature does. I was far from understanding why things happen, and to be honest, I still am attempting to understand, but one thing is for sure: when I get to heaven, I sure will have a lot of questions.
We had just had Tatum, our first daughter’s, 2nd birthday. Friends and family cheered in celebration as she opened a box at her two-year-old cowgirl-themed party, pink balloons flying out to announce that we were having another girl. Tatum knew she was going to be a big sister. She was excited, and even blurted, “It’s a girl! My sister!” at the gender ultrasound. Those feelings of euphoria were now choked by this feeling of uncertainty and fear. Tessa was supposed to be our rainbow baby, like her sister Tatum was. Many did not know pregnancy loss plagued us, and now this? We were supposed to be out of the woods by the second trimester.
Every kick and swift movement Tessa made drew me closer to her as we got in the car and drove silently to the hospital. I was determined to stay positive-minded for not only my own mental state, but for my husband, and we were both convinced that maybe it was just a bad reading on the ultrasound, those can be wrong, according to ‘Dr. Google’.
We had two appointments set for that Friday. The first was with the genetic counselor. She saw us promptly. Her voice was kind, and she had a warm and friendly demeanor about her as she sat at her wooden desk in a closed office. She had pictures of chromosomes on a screen and paper neatly stacked ready to write down notes. We listened carefully to her, as she explained to us the first findings again. Mike began to slouch over, his eyes meeting the floor, moving his hands together nervously.
She was firm in her approach, but gentle. I wondered what it must be like to be the first face patients see when you have to deliver the news that something isn’t right. She looked at me as I held her gaze, explaining that Trisomy 18 was one of their concerns. The choroid plexus cysts in my daughter’s brain were not a concern by themselves, but since they were paired with many other findings, this pointed to a possible Trisomy. She informed us of doing the amniocentesis, and left it up to me to decide if I wanted to do that testing.
At this point, I realized that there was enough ‘wrong’ with the first ultrasound that the reason we were here was actually to discuss options and make a firm diagnosis. This was real. This is really happening. After a few minutes discussing different genetic possibilities, she directed her attention to my husband, still quiet and processing this emotional truck that just hit us. “What about you, Michael. What are you feeling about all of this? Do you have questions?”
“I just want a healthy baby.” He said firmly, almost willing all these pictures and discussions away. My entire body felt like it was covered in pins and needles and a wave of grief seemed to fill the room. I leaned over toward his chair and touched his arm. “We might not have a healthy baby this time, honey…I’m so sorry,” I said.
I can count on one hand how many times I have seen this man cry. My hand still on his arm, I could feel his pain rush over us both. I handed him tissues and leaned in to hug him, his hand reached over and touched my belly. Tessa began to kick, almost as if she was trying to say, “Don’t be sad, I’m right here!” I had done all my crying just two days before, and I felt I was out of tears. I couldn’t cry anymore. Maybe from the shock? Maybe from the disbelief that here I was in a genetic counselor’s office, being told this life inside me might die. The counselor gave us a moment as she watched us absorb all this information, before sending us out to wait for the next appointment.
We sat wordlessly in the empty hallway. I stared straight ahead waiting for the door to open to go back. The mixture of emotions beginning to eat me alive as I just wanted to get this ultrasound started. I wanted answers. I felt some calm pass over me, as I began to ask for guidance. Please God. If this is true, give me guidance and strength to get through this day. I need strength, please. Give Mike some strength. Just help us.
The hallway door opened and I nearly jumped out of my skin. Another ultrasound technician led us back to Room 1, with a shiny silver sign on the door that read “Special Procedure.” It was a larger room, with a TV across the way from the patient chair with my name displayed across the top of the screen. The ultrasound machine was large as it loomed next to me, holding the secret to seeing my daughter. I changed my clothes as she said she would start the procedure to take a look again, and the doctor would be in shortly.
Mike sat in a soft chair behind the patient bed. I focused on the large screen on the wall, impressed that we could see the entire ultrasound. Tessa came up on the screen. My heart dropped, I was looking for anything wrong. She looked perfect to me. She twirled and kicked, her little arms waving. I just love that little girl, I thought to myself. There’s no way there is something wrong. The ultrasound technician then zoomed in on her heart, and began to label it with different codes. I heard a small sigh pass her lips, as she studied the valves. She placed the curser over the four different chambers of her heart, recording the heart beat. The last chamber sounded different. It broke me.
I am not sure how much time had passed before there was a knock on the door and my specialist entered, along with the genetic counselor. They had been watching the ultrasound from another room together. The specialist introduced herself, and seemed very matter of fact, and knowledgeable. I respected that she sounded sincere. The counselor stood next to her, as they both leaned against the counter out of the way of the display. She explained to me from head to toe everything that they could see.
The excitement I had felt when I thought Tessa had looked perfect melted away as the doctor began to show me exactly what they were concerned about. I felt more and more faint as I lay there, covered in jelly as the transducer now went over everything that looked abnormal. I felt like the list would never end. An entire host of internal problems went on and on. Her stomach ended up being in the right place, but small and overshadowed by another organ that was enlarged that was mistaken for her stomach in the first ultrasound. Other organs inside her perfect little body were enlarged or misshapen. Her little hand clenched in the staple way that most babies with Trisomy 18 have.
“Her heart is what worries me. Her heart is extremely deformed. All of these things combined are all markers for Trisomy 18. These are all consistent with that. And unfortunately, Trisomy 18 is not compatible with life,” the doctor said.
Not. Compatible. With. Life. These four words went threw me like daggers.
“What does that mean for her? Is she operational? Can we fix her?” I surprised myself at my calm demeanor.
They explained to us in detail how Trisomy 18 is usually fatal before birth. It occurs randomly during conception, and is a fluke of nature that occurs during cell division. Instead of two chromosomes in the 18th spot, there are three, resulting in full, partial, or mosaic Trisomy. There are other types of Trisomy’s such as Trisomy 21 (Down’s Syndrome) and Trisomy 13 (Patau’s Syndrome). Trisomy 18, is also known as Edward’s syndrome. When the diagnosis is in every single cell of your entire body, there is no cure.
It was then explained that Tessa was still alive because she was getting her energy from me through the umbilical cord and I was her life support. At any time, especially because of her heart, it could stop beating and she could pass away within the womb. If she were to make it to term, she may not make it through labor. And if she makes it to labor, she may not live very long. Then the options came. First, termination was presented with an explanation of how it is done, followed by the choice of carrying to term. Termination seemed to be what most parents have chosen, as there were only a few examples of what happened to the babies who were carried.
I couldn’t speak or move as I was trying to process this information. I wanted this appointment to be done with. I wanted to get in my car and go home, and wake up from this bad dream. I couldn’t see my husband behind me but I knew he was trying to take this all in.
“If you want to do the amniocentesis, we can do it right now. Baby is in a good spot and she won’t even know we are in there. Then you can have a better idea of what to expect. But it comes with a small risk of premature labor or miscarriage, sometimes infection, but it’s a very small chance. If we do the test we can also do a ‘FISH’ test which will come back in a few days with an answer. The amino will be a more in-depth test that will come back in a couple weeks. This will tell us exactly what she has,” the doctor said, her voice becoming a little more gentle, but still firm. I wondered again what it must be like to have to be the one to be the bearer of bad news. I wondered if all these women in the room with me had kids at home. Or if they had their own experience in loss. I wondered what it must be like to be sitting on that end of the stick, not knowing what will happen to your patients and their babies.
“What do you think? Should we go ahead with the amnio?” I asked toward my husband, sitting up and turning around to try to see him.
“I…. I can’t think right now.” He said, his head in his hands. This was too much.
I made a quick decision. “Let’s do the amnio.”
Two nurses and the specialist prepared for the amniocentesis as the ultrasound technician kept the transducer over my belly to make sure Tessa wouldn’t be near the needle. I grabbed my husband’s hands as the medical team raised my bed. They prepared my stomach so the skin would be sterile, and handed me a consent form to sign. I took a deep breath as the needle went through my belly, passing muscle and into my uterus to collect fluid from the sac Tessa swam in. After about a minute I began to have contractions as fluid drained into the test tubes. I tried not to move but the contractions were becoming too intense. I yelled out, half from the pain of the needle, half for the pain in my heart. I grabbed my husband’s hand and I could feel my palms slipping. I had to shut my eyes for the rest of the procedure as the pain intensified and it made me cringe to see this needle going through me. When the needle came out it was a relief, and the injection site was immediately sore.
“We will call you as soon as the first results come in,” the specialist said.
We left the hospital as fast as we could, the car ride home was much less silent.
“Even if this first FISH test comes back positive, I don’t want to terminate her,” I said defensively as I stared at the traffic ahead of us. My husband looked over at me. “I know she might die at any time. I know it’s going to be rough…But, I just want to give her a chance. The way I see it, if she is as sick as they say she is, she deserves to know love while she is here. She doesn’t get to have a normal life. She’s made it this far. I have to do this. I will just carry her until God says no more.”
“Babe. Everything will be okay. We just have to take it day by day. Carry her. I want you to be healthy too, so when the doctor’s call, let’s find out what happens next,” he said.
I could feel the tears rising up in my eyes, but I felt this was the only thing I could do. As soon as I said “I will carry her as long as I could”, out loud, I felt peaceful in this chaos. This may not be everyone’s choice, and that is okay. But the choice to carry on was right for us. When making this decision in this situation, you have to choose what is right for you and your family.