Screening Positive for Trisomy 21

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One thing people always want to know when they find out Hope has Down syndrome is when we discovered her diagnosis. Her Down syndrome often trumps the fact she’s our sweet baby girl, even on that day last June when I received the information from my OB.

My regular OB, before she went on maternity leave, had walked us through screening tests we would have and those we wouldn’t need. During that discussion, she explained that we did not qualify for the Panorama blood test, which screens for trisomies 13, 18, 21 and the baby’s sex, because I was too young for it to be accurate (the test is indicated for women aged 35 years and older). But at my 10-week appointment, my OB was out and I saw her colleague, who offered the test. We discussed Panorama’s sensitivities by age and opted to not include screening for chromosomal microdeletions, as the accuracy of testing at this level in my age group was quite poor. So we went ahead to screen for the aforementioned trisomies as well as the baby’s sex. Admittedly, my husband and I knew we had a strong, healthy baby, and only went ahead with the test to find out two months early whether we were having a boy or a girl.

I was at work—a medical editing position at a pretty quiet corporate park in northern New Jersey—when my cell phone started buzzing. I saw it was my OB’s office, which was odd, because test results were normally left on a secure voicemail. I picked up and it was the doctor I’d seen two weeks prior at my 10-week appointment, not a nurse or assistant. Again, odd. He went ahead and asked if I had a minute to speak and told me that the Panorama test result came in and that our baby likely has trisomy 21. My world stopped spinning. There was no article to edit, no newsletter to compile. It didn’t matter that I was preparing for our weekly team meeting. My mind was grappling with this news—I had so many questions.

I asked him to hold so that I could get away from my cubicle. To my surprise, this busy man, this established physician, said in a voice saturated with compassion that he would.

I ran down the stairs to the ground floor and stepped outside. It was a beautiful, sunny day. The sky was blue, and employees from other offices were already out enjoying their lunches at the picnic tables that sprinkled the periphery of the parking lot. As I weaved between the cars to reach the back of the lot, we continued our conversation. He emphasized that this was a screening, not a diagnostic test, which means that there is room for error. He told me that legally I have options to consider. He meant abortion, or termination. But all he had told me was that my baby has trisomy 21. He hadn’t told me my baby wouldn’t survive. He hadn’t told me my baby was going to have a miserable life or that my baby wasn’t going to be a functioning individual. So I thanked him and said with as much confidence as I could muster, “We aren’t terminating.” He might disagree, but I swear his voice perked up, almost sounding relieved, and told me, “Okay, then we won’t bring that up again.” Sadly, while he wouldn’t, others would, many times, and we literally fought over the coming weeks with medical “professionals,” who were encouraging abortion based solely on a trisomy 21 diagnosis.

We were already on the calendar the very next day for our 12-week nuchal translucency (NT) scan at the high risk office followed by a meeting with the genetic counselor, both of which my OB’s office prescribes for everyone at this stage of pregnancy. The timing was perfect, and the NT scan could help color any vagueness left from the Panorama.

As we were about to hang up, I remembered why we had opted for this test to begin with—sex. “Is the baby a boy or a girl?” I asked. I could hear him scanning the document and he told me the most amazing news: the baby growing in my belly is a girl. And she became real.

I spent the rest of the afternoon reading about Down syndrome. Would my daughter have a good quality of life? Would she ever gain independence? What kind of resources would our family need? Did we have to move? Was she going to have medical problems? Could she ever love me? Would she go full term? Could I still deliver at my dream hospital? Why did this happen to us?

How would I tell my husband?

That afternoon I felt so alone. I couldn’t call my husband, because I needed to share the news in person. I was spiraling down a funnel of information, accelerating as I went, learning about all of the wonderful qualities my daughter would have and all of the interventions she might require. I know that I didn’t smile at anyone for the rest of the day. I know that I wasn’t in the moment. I considered asking to go home, but that would mean I would have to tear myself from my computer, and I still had a lot to research.

babies_with_down_syndrome3After work, I picked up the top-rated Babies With Down Syndrome: A New Parents’ Guide, edited by Susan J. Skallerup, prepared to explain I was buying the book for work or research or a family member, should anyone inquire about my selection. I wasn’t showing yet, and nobody asked me about my purchase. But the cashier took a moment to comment on how cute the baby on the cover was. As I smiled in agreement, I thought to myself, “Is that baby cute? Can that baby be cute?? Do I think the baby is cute???”

Escaping after my purchase before the conversation could escalate, I picked up 50 pink balloons and cheesy decorations from the party store. I found out we were having a girl as an afterthought and was determined for my husband to have a better experience. He deserved an unadulterated moment of excitement.

IMG_5500Our balloon pump was missing, so I was only able to manually blow up 20 balloons—not the dramatic entrance I had dreamed up in my head. I scattered them around our bedroom, hung a “It’s a Girl” banner over the bed, and wrapped the book in baby animal wrapping paper. When my husband got home, I texted him to come upstairs, where I was sitting in a chair playing “Big Girls Don’t Cry” on repeat (I was going through a Frankie Valli phase). He figured out immediately that we were having a girl and cried. Assuming the best, he said, “So the test came back normal, right?” I didn’t say anything and I handed him the book.

We spent the rest of the night dreaming about life with our precious little baby girl.

One response to “Screening Positive for Trisomy 21

  1. Pingback: Hope’s First Birthday | At Her Own Pace·

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