Choosing a Life. They said our baby would have Down's. We said we understood, but we had no idea.Karen Dempsey
The radiologist’s skin shone with perspiration in the blue light of the ultrasound monitor. He moved the sensor over my rounded belly and stared at the image on the screen, at a glare or spot of light that looked, to me, like a star on the baby’s heart. Even I knew it wasn’t supposed to be there.
“The results from your blood test screening – all normal?” he asked.
“We didn’t have the blood screening,” I said.
He looked at me in disbelief. “You didn’t have the test?”
When I was pregnant with our first child, John and I talked with my obstetrician about our options for genetic testing and screening. For a woman of thirty-two, like me, the risks of amniocentesis outweighed the chances it would detect a problem. I had conceived after a year of infertility treatments; I didn’t want another needle. And John and I had always felt that abortion wouldn’t be a consideration for us, anyway.
The other test, the one the radiologist asked about, was a simple blood test. It was not risky or invasive, but still just a screening test – it only provided a bit of statistical information about the likelihood of certain genetic abnormalities. The margin of error was high – it might miss a genetic defect completely, or provide a false positive for one that didn’t exist. John and I didn’t want inaccurate information to increase our anxiety or leave us feeling pressured to have an amniocentesis, and with my doctor’s support, we opted out of both tests. Our son Brennan was born healthy and strong. With this second pregnancy, I was thirty-three, still in a low-risk category for genetic abnormalities. We made the same decision.
The radiologist stared intently at the monitor. He rolled me onto my side and clicked tiny arrows on the screen, trying to get a particular measurement.
John and I had made the mistake of bringing one-year-old Brennan with us to the ultrasound. We’d expected the appointment and my follow-up with the obstetrician to be routine. We would learn the baby’s sex, and then have lunch and celebrate before John went back to work for the afternoon. By this point in the exam, Brennan was shouting emphatic protests and attempting to swing from the thin blue curtain that divided the room.
“Take him out,” I whispered to John.
“No way,” John said softly, holding my eyes with his before he looked again at the hazy image on the screen.
The radiologist said he wanted to have another doctor take a look. He stepped out and returned with a woman who squirted more warm gel on my abdomen and swept the sensor over me. They scrunched their faces close to the screen, maneuvered and pressed my belly, and talked about me as though I weren’t in the room. Fingers clicked a keyboard. “I got the same thing you got,” the woman said cryptically. “Did she have the blood serum screening?”
“She didn’t have it,” he said.
“She didn’t have it?” she asked, her tone sharp. A minute later, she left.
I cleared my throat. “Just what is it we’re looking at?”
The radiologist looked at me, startled, as though he’d forgotten I was there. He offered a rapid-fire description of the flash of light on the screen and its implications. He told us that we were seeing an echogenic intracardiac focus, or EIF. It is a marker for Down syndrome, he said, though a notably unreliable one. He and the second radiologist had been struggling to get an accurate measurement of the baby’s nose, which, if short, would be another marker. That measurement, though, appeared normal.
“Uh, girl, I think,” he looked at his screen again. “Yeah, a girl. Ninety-percent sure.” He finally met my eyes. “You’re taking this very well,” he said. “Most people get very upset by now.” He handed me a one-page printout on which he had scrawled at the top, EIF, and then he left.
I asked John to take Brennan out, and I shakily pulled my clothes on, desperate to get away from there. I had felt the tears coming, and panic, but Brennan’s presence in the room and, in some strange way, the radiologist’s ineptitude at handling the situation, had helped me to remain calm. Now I just wanted to get across the street and talk to my own doctor.
John and I looked at each other wide-eyed when we got outside. “What an ass,” I said. “Could he have handled that worse?”
“Let’s just talk to Dr. Shapiro,” John said.
Dr. Shapiro greeted us enthusiastically. My hand shook as I handed him the printout. He studied it and let out an exasperated breath. “What is this?” he pointed at the EIF scrawled across the top. “What’s that supposed to tell you? ‘My kid is an elf?'”
I laughed and my eyes filled with tears as I felt a release of the tension that seemed to have been pressing at me from the inside out.
Dr. Shapiro sat with us for a long time, asking and answering questions as we weighed whether to have an amniocentesis that would tell us for certain if the baby had Down syndrome. We talked again about the statistics: the risks associated with an amnio and the likelihood of Down’s. The numbers felt simultaneously meaningless and terrifying. One in two hundred means nothing, or everything, depending on whether you are that one. But while I had walked out of that ultrasound appointment afraid, I felt more fiercely protective of my pregnancy than ever.
One in two hundred means nothing, or everything, depending on whether you are that one. “No one’s saying what we’re talking about here,” John said, finally, and I heard the stress in his voice.
“I’m saying it,” Dr. Shapiro said. He leaned against a counter, completely at ease, with the demeanor of a friend. He looked at me. “If you had a diagnosis of Down syndrome would you continue the pregnancy?”
“Yes,” I said without hesitation. John nodded, his eyes betraying the same certainty and fear I felt.
Dr. Shapiro nodded, and smiled. “Okay,” he said. He went on to say that some people have an amniocentesis in our situation because they wouldn’t want to continue the pregnancy. (Eighty to ninety percent of pregnant women abort when a diagnosis of Down syndrome is confirmed.) But others would have the test because they simply needed to know, to prepare themselves ahead of time rather than find out in the delivery room.
“Do you need to know?” I asked Dr. Shapiro. “Would a diagnosis of Down syndrome change my prenatal care?” He thought for a minute and then described what might be different. He might recommend more ultrasounds to check on the baby’s development. He said with Down syndrome there’s a higher likelihood that the baby would experience distress during delivery, so they would take that into consideration when planning, for example, whether to induce labor. He also told me that there’s a higher likelihood, with Down syndrome, of miscarriage or stillbirth. But learning the diagnosis ahead of time wouldn’t change that.
The baby probably didn’t have Down syndrome, and if she did, the only reason for us to find out right now was if we needed to know. We didn’t. We declined an amniocentesis and Dr. Shapiro scheduled a follow-up ultrasound. It didn’t feel like an exceptional decision, or a particularly brave one. It just felt right for us.
“If we knew that we were going to have a baby with Down syndrome,” I asked John as we talked about the house, “would it change where we wanted to live?”
John looked back at me for a long moment. “If we have a baby with Down syndrome,” he said, “It will change everything.”
One sleepless night near the end of my pregnancy, I lay in bed with my heart racing, remembering that tiny star from the ultrasound. Were we kidding ourselves, pretending we could just take things as they came? I couldn’t calm myself, though I was desperate to sleep. I tried relaxing by tightening and releasing the muscles of my body one by one, beginning at my toes. I should pray, I thought. I should pray for her. But what did that mean? She was there, fully formed inside of me. I could feel her knees and elbows, her stubborn round head. I didn’t believe in a prayer that would change her genetic makeup; she had Down syndrome, or she didn’t. And so what would I be asking for, a different baby? I’d already chosen to have this one. I finally found peace, and sleep, with the thought, She is who she is. Already, she is who she is, and she is mine.
As we made plans for who would care for Brennan while I was in the hospital, I spoke of the ultrasound again, to my sister Megan. “Listen,” I said at the end of a long phone call. “I need to tell you something.” I told her, because if the baby was born with Down syndrome, I wanted someone to be able to tell our families we had known it was a possibility, and that we had made peace with it.
We managed, but barely. Liddy came into the world soon after, with myriad complications that did not include Down syndrome. She had a heart murmur caused by a congenital heart defect, swollen kidneys, an elevated white blood cell count (because she and I have conflicting blood types, which left her at risk for anemia), and a deep dimple at the base of her spine that required ultrasound monitoring and an MRI to rule out other complications. Though these issues required a great deal of monitoring, they would ultimately resolve themselves. But Liddy also has severe gastroesophogeal reflux disease, a condition that made it difficult for her to gain weight in her first years and left her vulnerable to breathing problems.
Because of the reflux, Liddy slept for only forty-five minutes or an hour at a time her first months of life. She couldn’t tolerate the stroller, and her car seat made her more vulnerable to the reflux because it pressed her knees to her tender belly. She had to be kept straight and still for long periods after each feeding, and spent nearly all of her time in our arms. We lived our lives in thirty-minute increments – feeding, holding, soothing – while trying to manage Liddy’s hospital visits and ever-changing prescriptions, and take care of her brother, who was not even two. We’d moved to a new neighborhood where we hadn’t yet made friends. John worked long hours at a new job and came home to find me completely unraveled at the end of each day. And then we would begin the long night, taking shifts holding Liddy, hoping for a few desperate hours of sleep.
We managed, but barely. We missed our friends. We missed each other. We felt, for a very long time, very much alone.
An amniocentesis would not have predicted Liddy’s complications, or prepared me for the realities of having a sick child. Caring for Liddy challenged my marriage, my family relationships, my friendships and my mental health – my very way of being in the world. John and I were naïve. We would learn, through Liddy, the awe-inspiring breadth of medicine’s understanding, as well as the frustration and grief of its limitations – and of our own.
Liddy is now a feisty three-year-old who loves eating vanilla ice cream and wearing a monogrammed, pink-and-white-striped turtleneck that’s two sizes too small. She bosses Brennan around and revels in the company of her imaginary cat, Julet.
Liddy still has reflux – she always will – but you would never know it to meet her, and it does not interfere with her eating or sleeping. Everything else has resolved itself.
She’s healthy, with hard-won little rolls of fat at her knees and ankles.
She is who she is, and she is mine.