My baby’s Down syndrome diagnosis story

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The question I get most often (and if they aren’t asking about it, they’re wondering) is “did you know about the Down syndrome before he was born?” This question doesn’t bother me, but it drives some people crazy because it implies that if we had known, we would/should have “done something” about it. I don’t think that most of the people who ask me if I knew are actually implying that.

The short answer is no, I didn’t know before he was born. And now the long answer…

The first inkling was on the 20-week ultrasound. I went into my third baby’s 20-week ultrasound with excitement and good expectations, as I had for the last two wonderfully perfect ultrasounds. We even brought our oldest who was 4 at the time so she could watch the baby moving on the screen.

I didn’t notice anything unusual during the ultrasound, except I never remember seeing the baby’s feet. Towards the end, the tech told us to wait because a doctor would be coming in to talk to us. I don’t remember in which order she reported the findings to us, but there were two things: a high nuchal fold measurement (DS related) and bilateral clubfoot (not DS related).

I had never heard of clubfoot, but I had heard about people having false indications of Down syndrome that turned out to be nothing. So I focused on the clubfoot. My biggest questions were, “what is clubfoot, can it resolve before birth, and what is the treatment?” One thought going through my mind was that they probably expected me to dissolve into tears. I was determined not to do that, especially with my daughter in the room. They asked if we wanted to talk to the genetics counselor, and we did.

Next she led us into the world’s tiniest office with one round table, 4 chairs, and a box of kleenex. We set our daughter up with a coloring book and were bombarded with statistics about Down syndrome, amniocentesis, and clubfoot. It bothered me that the overall tone was “you have this much time if you want to do something. Here are your options…” I tried to make it clear that we had absolutely no intention of “doing something.”

Because I had the ultrasound late at 21 weeks, and they only allowed amnio up to 23 weeks, the window of opportunity for that was closing. Once I heard the risks for miscarriage, I wasn’t interested. Unfortunately, the non-invasive prenatal tests that are available now were not on the market 4 years ago.

The genetics counselor said I could still get the quad screen that I had declined earlier because I knew the frequency of false “positives” and unnecessary worry. So, as Daddy and I had taken two cars, I decided to stay and get the quad screen test while he took E home.

Once I got in the car and started driving away from that place, the grief started to settle in. Honestly though, Down syndrome was not much on my mind. I kept imagining the imperfect baby with deformed feet. I was grieving the “perfect child.” As I cried and tried to drive, I stopped at Caribou Coffee for some comfort drink, and got all the feelings out on my 45-minute drive home. That is the one and only day I cried about my “imperfect” baby.

A few weeks later, I got the call from the genetics counselor about the quad screen results. Before that, my chances of having a baby with Down syndrome, based on the nuchal fold measurement and my age, were… I can’t remember! What I do remember is that based on the quad screen results alone, the chances were 1 in 3000 (much better than my age-related risk). She factored in the nuchal fold measurement and gave me a final statistic of 1 in 1000. And I took those numbers and ran… I literally did not spend more than a few minutes thinking about Down syndrome until after Little Guy’s birth. I know how lucky I am for that. Despite how horribly inaccurate the quad screen test was, it allowed me enough peace of mind to take all the anxiety and worry out of the rest of the pregnancy.

The possibility of Down syndrome itself did not particularly worry me. Deep down, I have often had a nagging feeling Down syndrome or some other disability might be in my children’s future. I remember thinking this as early as high school or college. Call it a premonition. Interestingly, I have heard many other people say this too. However, I was absolutely dreading the weekly casting appointments for clubfoot that would begin at 3 weeks old. I was fine with the baby staying in as long as possible.

Then, not thinking about Down syndrome, we jumped into the car one summer morning and drove like mad to the hospital. I labored at home too long, and we didn’t even have time to drop the kids off at my parents’. I was 10cm dilated when we got to the hospital, and he was born within 30 minutes (we have the parking ticket to prove it!).

We had waited to find the baby’s sex, as we already had one of each and it didn’t matter. I thought it would be a fun surprise. So as I looked at our new baby, the first thing I noticed was “it’s a boy!” and the second thing was “he has Down syndrome!” Kind of took the wind out of my “it’s a boy!” sails.

As I held him in my arms through all the “fun” that happens after a birth, I didn’t say a word. I think I said to Daddy that it was a boy, but I was completely silent about what I had noticed. To this day, I do not understand why I didn’t speak–it is a complete mystery to me.

Daddy tells me that he asked the nurse midwife at some point to evaluate the baby for Down syndrome because we had markers on ultrasound, and after a bit she softly mentioned to me the pediatrician would be evaluating him for signs of Down syndrome. It didn’t matter to me because I already knew.

Interestingly enough, my mom had been a little late to get the kids, and because it was such a quick birth, they were still at the hospital and all got to come in and meet Little Guy shortly after he was born. Daddy was the one to tell her about the Down syndrome, and she walked over and looked admiringly and proudly at our sweet baby.

I hadn’t even looked at his feet up until that point, so slowly I uncovered them. I was actually afraid I would be grossed out by them, and it turned out clubfeet look pretty cute. He was able to completely fold his legs up under him.

birth photo
After a bit, a team of resident pediatricians came in and got some first-hand lessons on the characteristics of Down syndrome. This meant that my baby was across the room from me surrounded by a large group of doctors while I ate lunch in the recovery bed. They were whispering. I can see how many people would be very put-off by this, but I didn’t mind. For the most part, I have been open to helping student doctors in our teaching hospitals learn more about Down syndrome, especially now knowing how little they are taught about it in medical school.

The next big event was an echo-cardiogram, which was done in the room and took about 45 minutes. We were ecstatic to learn that he did not have any of the big heart defects associated with Down syndrome, except one little bicuspid aortic valve. Some kids need surgery for that before they leave the hospital, but it was not causing Little Guy any symptoms and never has. Thanks to God for that.

We didn’t talk to the geneticist until the next day when he brought us a great book, Babies with Down Syndrome: A New Parents’ Guide, and a packet of information about local Down syndrome groups. I was so proud of the way my husband, who doesn’t usually read unless he has to, dove into the book and kept telling me bits of information about Down syndrome.

The last thing was a karyotype test. They took some blood, and we knew it would take a few weeks for the results. I was sure anyway so I had no anxiety about the results, but we did wonder about the chances of it being Mosaic Down syndrome where some cells are “normal.” It didn’t turn out to be, which means that every single cell in Little Guy’s body has 3 copies of the 21st chromosome instead of 2.

If I sound matter-of-fact about the whole diagnosis, it’s because that’s how I also felt at the time. I never cried about Down syndrome after he was born, and for months I wondered if I was in denial or if I was going to have it hit me and have some kind of breakdown. I still haven’t.

As I thought about Down syndrome, I thought a lot about the people I had known through my life who had it. My grade school classmate’s brother who I kicked the soccer ball back and forth with after practice. The little girl my mom taught for 2 years in kindergarten until she learned to read. The daughter of my choir friend who would hug each and every person in the choir during the sign of peace. The son of my coworker who came to talk to my students about Special Olympics and the bodybuilding that he does.

Between those experiences, my ever-present premonition, and my faith in God to give me the tools I would need to raise my little boy, I did not grieve. If anything, I felt hopeful. During my recovery stay in the hospital, the thought continually passed through my mind: “my son has Down syndrome!” and with it, I felt wonder.

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About Katie

Katie Bee is the author of for Elysium blog: a site about family, Down syndrome, home, art, and writing.

6 thoughts on “My baby’s Down syndrome diagnosis story

  1. Maggie

    It is heartening to hear your account… and to recall my own, very similar experience and emotions a short 9 1/2 years ago. Perhaps we are, in fact, chosen! ;o). You’ve inspired me to start writing again. There is so much we can all learn from and share with each other.

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