Diagnosis: Trisomic Disorder
By Ava’s Mother
My husband and I waited and prepared to have children. We made sure that we owned a home, had a “kid friendly” vehicle, and that we’d paid off our debts. After 4 months of trying we finally got the news we were waiting for. I was pregnant. I called my doctor, had the pregnancy confirmed and settled in to knowing that our little one was on the way.
My first couple of doctor appointments were uneventful. I did suffer with nausea and vomiting, but turned down anti-nausea medication because I was worried it could somehow hurt the baby. Then one visit my doctor offered a test called a triple screen. She explained what it was, and how it worked. My husband and I sat and listened as she went over the pros and cons of the blood work. We were told to go home, do some research and decide if we wanted to have the screening done.
We really didn’t have any risk factors, we are both under 30. We have no known chromosomal abnormalities in our family. We have no family members with neural tube defects. Still, after some thought, it seemed like a good idea. Why wouldn’t we want to know that our baby was healthy?
I had the blood work done. A week went by, and we didn’t think much about the results. We were told that like with most blood work, we wouldn’t hear from our doctor unless something was wrong. Then the phone rang. Our doctor said that our screening came back with an elevated risk for a trisomic syndrome. We needed to have an ultrasound done to make sure that my dates were correct and that I was carrying only one baby. I was sixteen weeks pregnant at the time.
The next day we went for our first ultrasound. I prayed the entire time. The technician worked quietly, scanning and re-scanning. When she was done she allowed us to view the screen, and explained where the baby’s heart was, its face, its tummy, its hands. We stared at our baby, fell further in love with our baby, longed for our baby to come. At the end, she wished us a good day and told us to stay hopeful.
A week went by and then a call from our doctor. She had received the results, and there were some concerns. Our baby appeared to have dilated kidneys and a bilateral choroid plexus cyst on the brain. We were told not to panic. Even though it sounded bad, we shouldn’t jump to any conclusions.
I sobbed and sobbed. I couldn’t believe that our baby might not be healthy. I remember thinking that I had done everything right. No second-hand smoke, no caffeine, no aspartame, no alcohol, no deli meat or soft cheeses. I wouldn’t even have my hair streaked. How could this be? A cyst on the brain? Dilated kidneys? Why? How?
Our next step was a Level II ultrasound and amniocentesis. During the Level II ultrasound I was thinking “this can’t be real, this can’t be me, our baby has to be okay.” The technician worked quietly. We had been told that the ultrasound would take about 40 minutes. After only 15 minutes she looked up and said she was done and that she would go get the perinatologist to discuss the amniocentesis.
She said, “the best thing we can do is the amnio, then we’ll know for sure that the baby is okay.” I convinced myself that her spending so little time on the ultrasound was a good sign. She had looked and seen nothing new, so why waste more time on the ultrasound? Her cheery face and calm manner must mean that all is well.
The perinatologist and technician whispered quietly in the hall, then he came in. He didn’t say anything about the ultrasound. He said that the amnio would be the only way to know with 100% accuracy. He went over the risks and we signed the consent form. It was fast and almost painless, just a bit of pressure. After it was done, I cried and cried. What if I miscarry now and the baby turns out to be healthy? What have I done to my baby? What if they find something wrong? What are we going to do? Why us?
Eleven days passed. My husband and I researched everything we could: The triple screen; all the types of chromosomal abnormalities; and finally, methods of termination. It was awful reading about the methods of termination. After talking to my doctor we knew that if we terminated, I would have labor and deliver our baby. I was 20 weeks pregnant.
It was a cold Saturday morning when the phone rang. My husband answered it. I thought it couldn’t be our results because our doctor wouldn’t call on the weekend. But it was. She said we needed to come down to the clinic. I knew it was bad news.
When we got there, we were taken into the room right away. I sobbed and shook all over. I felt like our world was ending. All our hopes for this baby were fading. It was surreal. I felt like I was watching a made-for-TV movie. It couldn’t be real and it couldn’t be us. Our doctor came in, and said that she was sorry, but that our baby had a trisomic syndrome. That was the moment that changed us forever. I knew in my heart that our baby wasn’t going to come. I know now that our angel was heaven-bound through us.
We left the clinic in a fog of confusion and grief. We went home and began discussing what we were going to do. Our baby girl had forced us to consider so many things. Her quality of life, the possibility of endless surgeries, our future children, my husband’s career, our financial ability to care for a sick child, our faith. The list was endless.
We didn’t need to do much research on her diagnosis, as my education and working with many special needs children and adults allowed us to know with certainty what her future would hold. Our concerns were not about her young years, so much as they were about her adult years. Having seen what group homes do not provide, and what day-programs for special needs adults consist of, I was sure that I couldn’t have any of it for my baby. Still, the thought of termination made my stomach sick and my heart ache. My husband and I cried for days knowing what we had to do.
I called our doctor and told her our decision was to end our pregnancy. She made some calls and the appointment was made. Driving to the hospital was a nightmare. We knew that by the next day our baby would be gone. The nurses were kind and understanding, but I still felt ashamed, like they were all thinking we were “just another couple who didn’t want an imperfect child.” The truth was that we wanted her more than words will ever describe. We would have traveled across the world and back to make her healthy. I begged God to fix her, to make her all better, to give her a body and mind which would allow for no suffering.
My labor lasted 23 hours and it was the hardest 23 hours of our lives. It was painful and heartbreaking knowing that with every centimeter and every contraction we were closer to losing our girl. We were told that she would most likely pass away before birth, but she didn’t. She lived for just over an hour. We were not prepared for this, and I will forever wonder if she suffered in the end. We held her, and rocked her. I told her over and over to “go with the angels” – that the angels were waiting for her. My husband talked to her about how sorry we were. He carried her around just like a proud dad would.
We had her baptized, something that was very important for us. I prayed that we made the right decision. I don’t think we’ll ever say that we know for sure. Having to take the life of your child goes against every parental instinct. I say this knowing that having to watch your child go through a lifetime of suffering also goes against every parental instinct. We know now that our lives, our marriage, our faith, our love for each other and all things sacred will forever be changed. Because we are parents of an angel baby named Ava.
In the days to follow we found the strength to contact a funeral home, have her tiny body cremated and schedule a private burial at our local cemetery. She is buried in a section dedicated to babies and children. Though her remains lay safe, I know that she actually lives far away in heaven. She dances and plays with the other angel babies. She is gently held in the arms of God right now, but someday we will get to hold her again.
It has been three weeks since her birth and passing. I won’t lie and say that it is easy. However, we believe that the suffering we are going through now is a fraction of the suffering that our Ava may have faced. We will forever suffer so that she didn’t have to. My heart breaks for all the parents like us, and there are so many. I hope and pray that our story may help other families to know that they are not alone in their heartbreaking decision. I believe that there is a special place for all children in heaven, and that our angel baby looks down upon us each day. Mommy and Daddy love their little angel, Ava.