I should begin by thanking the anonymous contributor who was willing to share her story, an unusual one for this blog, about choosing to terminate her pregnancy after a prenatal diagnosis of Down syndrome. As I wrote yesterday, I ask readers and commenters to be honest and gracious in responding to this story. This post comes as one of a series of posts giving personal stories about prenatal testing in relation to my recent ebook What Every Woman Needs to Know About Prenatal Testing. For support and other stories like this one, go to ourheartbreakingchoices.com .
I have been pregnant three times. The first time, I had a flimsy understanding of genetic screening and of conditions such as Down Syndrome (technically known as trisomy 21). I felt that since the screens were not “accurate” in the sense of being diagnostic, they were thus not worth doing. Besides, I believed if I had a prenatal diagnosis of trisomy 21, I would continue the pregnancy anyway. Looking back, I see I was also engaged in some magical thinking: “If I do not test, my child will not have that condition.” Sure enough, there she was on the 20-week ultrasound. They said, “She looks great!” My daughter was born healthy, bright, strong, without T21 or any other genetic condition. She is bounding around preschool as I write.
With such great results to go on, I cheerfully declined screens when pregnant for the second time. Except this time at the ultrasound, they didn’t say, “Looks great!” They said, “We see problems.” Calcifications throughout his abdomen and liver. Growth rate drastically slowing. Diagnosis unknown. Implications? Hard to say, but whatever it is was very likely to have affected his developing brain. “Affected it how?” I said. “Anything from learning delays to severe retardation,” they said. “I’m sorry, I’m confused,” I said. It is strange to experience a fight or flight reaction while lying on an exam table with clear goo on your belly. ”What are the chances everything is actually fine?” “Virtually none,” they said.
It took two weeks more to get a diagnosis. Along the way we tried on possibilities including everything from toxoplasmosis to cystic fibrosis. Down syndrome was considered a low probability. My husband and I had to decide in advance under what conditions we would be prepared to continue versus terminate the pregnancy. This entailed taking out our values and looking at them in the harshest of lights. What constitutes quality of life? What is the purpose of parenting? What was our actual capacity to raise a special needs child? What path could we envision for such a child as a child, and also into adulthood and past when we ourselves would be out of the picture?
I went into a stairwell at work for some privacy when the maternal-fetal specialist called with our amniocentesis results. I was on the building’s eighth floor at the time. He said, “Your baby has Down Syndrome.” I said, “No. That’s the one I don’t have a game plan for…” I hung up and tried to find my office, but it is on the ninth floor. I just kept walking down and down and never reaching my office at the top of the building. Eventually I came face to face with a friend who said, “Let me drive you home.”
I was so late in pregnancy, there seemed not to be time to meet with a genetic counselor so I did my own research on Down syndrome. I concluded it was a grey diagnosis where best case was hard and worst case terrible. I could envision handling the early years, but not the long term. We have family friends with children who have cognitive disabilities, and those families and children have struggled. I have seen the parents “leave it all on the field” to try to position their kids for some form of independence and still fail. Once the kids aged out of school, there were no jobs, no meaningful roles, no chance of family and homes of their own for these young men. The parents have suffered. The kids have suffered too. I didn’t want that future for my son or for my family. We decided to terminate.
In all, the late prenatal diagnosis of Down syndrome and termination of that pregnancy took roughly a year-sized chunk out of my life. I experienced grief that I never want to feel again. I went down to rock bottom. I didn’t wish to die but did not look forward to living either. I climbed out of that hole slowly.
I got pregnant again. Based on thorough research this time, I had my testing game plan in hand for the first meeting with the (new) OB. I did bloodwork/NT scan, and one of the new blood tests for T21, T18 and T13. The combined results indicated the odds of this being a second T21 pregnancy were 1:11,000, which my new genetic counselor gently pointed out was “not zero”. Only an amniocentesis would be definitive but after much agonizing, I declined. Partly because the miscarriage odds outweighed the odds of undiagnosed T21. But also, by that time I was savvy enough on prenatal testing to know that even with amnios there are no guarantees. Sure, it would mean absolutely no T21. But genetic microdeletions that can have a similar impact on a person to Down syndrome, can go undetected by standard tests. Alternatively, there can be findings with no clear prognoses. Having mapped out in my mind where the grey area was, I determined for myself what I considered to be true due diligence, hit that standard, and accepted the remaining unknowns. A healthy baby was born to us four months ago.
In all, my experience was not only painful; it was educational. Regarding prenatal testing, i certainly learned the “what,” the “why,” and the “so what”. I wish I had had that knowledge before. I met many women who had terminated wanted pregnancies for medical reasons — due to all kinds of conditions, of which Down syndrome is the tip of the iceberg. Bigger picture, I learned that in life, things go wrong, and when it comes to kids, the stakes are through the roof. In fact, strangely, I think I became a better parent. It was revealed to my husband and me that our children are everything to us, and ensuring their welfare our primary purpose in life. We treasure every moment with them. We moved into a better school district. I never forget that what I do is all for them. And I never forget my son who had T21. I loved him just as much as the kids I have living here with me today.
When it comes to continuing or terminating a pregnancy with Down syndrome, I believe there is no right answer. This means there is also no wrong answer. I would never advocate for a family to choose one road or another. It is a personal choice with many complex factors and, ultimately, both choices should be supported more than they are today. Families raising children with DS deserve greater social and practical supports, particularly aimed at adults with DS and their roles in life as adults as well as their medical long-term care. On the flip side, termination of pregnancies should be de-politicized and de-stigmatized. Parents on both “sides of the fence” have more in common than they may think, since in every case we are talking about people loving their children and thinking only of their quality of life in the face of a very difficult diagnosis.