genetic abnormality

A foggy winter morning

Posted on Posted in D&E, Stories, Trisomy 21 (Down syndrome)

I called the abortion clinic with a program for genetic abnormalities. Through sobbing, I managed to make an appointment for the following week to terminate the pregnancy.

by Nicole K.

On a foggy winter morning, I pick up the baby’s ashes at the post office. It’s just eleven days after his death. The small, square box is conspicuously labeled “Cremated Remains” which manages to even silence our chatty neighborhood postal clerk. I walk back to our minivan carrying a nearly weightless box while feeling the weight of the world. It takes a while for the tears to stop enough that I can drive. I bring my baby home in a cardboard box.

After months of pain, I finally had an MRI scheduled. The intake paperwork asked about LMP and after looking up the dates, I realized I might be pregnant. Thankfully, MRIs don’t impact pregnancies so I was able to proceed with the test. It confirmed, that I had two tears in my shoulder from traveling alone last summer with our first baby. My husband, after a little arm-twisting because he said if I thought I was pregnant I was, went out to get a pregnancy test that night. We did two, just to be sure. We dubbed the baby “Poppy” because, at nearly 5-weeks gestation, he was the size of a poppy seed.

I was reluctant to tell people about the pregnancy. I don’t know if that was because I sensed there was a problem, or if that’s just a projection based upon what transpired in the intervening time. The first time I told several of my closest friends about Poppy was when we already knew there was a problem. I still haven’t told some of my closest friends that I was pregnant at all. I didn’t tell anyone at work other than my boss, vaguely, what was going on.

Our initial prenatal appointments went well. Poppy measured on target and we could see his heartbeat. I still have the first ultrasound printout in my wallet. I probably always will.

At our 10 week appointment, we did a blood draw for prenatal genetic testing. Six days later, 11 weeks + 1, I saw my doctor’s office number pop up on caller ID. I picked up, eager to hear the baby’s gender. As I heard my doctor’s voice, my heart started pounding. I knew that the doctor only calls if there is a problem. Nurses deliver the good news in this practice. It turned out that Poppy tested positive for Trisomy 21 also known as Downs Syndrome. We learned that in my case, the test was 96% accurate. Conversely, the chance that at age 42, we would have any genetic problems at all was 4.7% (1/21); essentially the same chance that the test was wrong. We also learned that Poppy was a boy.

Our OB arranged for us to see our perinatologist that afternoon. We knew her from our previous pregnancy, which in spite of my geriatric pregnancy at age 40, was normal and blissfully uneventful. She was loving and compassionate as she examined the baby and asked us what we thought we would do if the diagnosis was confirmed. We would terminate. She said she would too if she was in this situation. She indicated that there is no way of knowing how severely affected Poppy would be from a mental or health perspective but that statistics are not on our side for a good outcome. If we continued the pregnancy, there was also a not insignificant chance that I would miscarry the baby. She did a detailed ultrasound with a nuchal translucency test which was normal albeit on the high side of normal. That gave us some hope.

Because we indicated that we would terminate the pregnancy if T21 was confirmed, we were referred for Chorionic Villus Sampling (CVS) (usually performed in weeks 10 -13) rather than waiting until later in the pregnancy to do Amniocentesis (usually performed in weeks 16-18). She also intimated that T21 is a tough diagnosis because of the current political situation surrounding abortion generally but also specifically with T21. In the past, pro-life advocates focused on providing information to families affected by the diagnosis but when that was not getting desired results, they went after the right to choose specifically based on diagnosis, as well as the method of termination. We discussed that we should probably be vague about the situation “medical issue” or “genetic abnormality” rather than have to defend our decision if termination became necessary.

T21 just happens. It’s simply a fluke. The embryo ends up with 47 chromosomes instead of the normal 46. Usually, the egg or the sperm has an extra chromosome prior to conception or sometimes an error in cell division early on. It’s the most common genetic abnormality. There wasn’t anything we could have done differently. Many T21 pregnancies end in miscarriage. The chance of T21 increases dramatically with age but affects young women too. In fact, more T21 babies are born to young women, possibly because they aren’t aware that their baby has T21 as early testing isn’t as widely available in that age group. In some countries, terminations of T21 pregnancies are nearly ubiquitous. In the US, around 75% of confirmed T21 pregnancies are terminated. Yet, nearly no one talks about termination for medical reasons because of the unique stigma that exists for parents generally and for this specific genetic abnormality.

I am grateful that my husband and I are on the same page with terminating this pregnancy. We both very much wanted another baby to complete our family but we value quality of life over just life. I don’t know what I would have done without his constant love and support in life generally but specifically during this timeframe.

During the next week, I did a lot of research while maintaining some hope. I learned that T21 isn’t necessarily a death sentence and there are children with good outcomes. There are outliers who may have a milder form of T21, mosaic T21, where not all the chromosomes are affected. During this time, I told Poppy every night as I cried myself to sleep that “Mommy and Daddy love you and so do many other family and friends. We will do what is best for you because you are so very loved.”

I read a story about a family with a baby who had a different genetic abnormality who would not live long after birth. After multiple surgeries, they managed to keep him alive for five months before he died. It was deeply comforting to that family to have that time with their child. I don’t judge this family for their choice, but it would not have been the right choice for my family. Every family should be allowed to make the choice that is best them. You can’t make this kind of decision for someone else.

At 12 weeks + 1, we arrived at the hospital way too early and waited around. After some registration shenanigans, I was admitted for CVS. We talked to the genetic counselor who was kind and very matter of fact. She said that if we have another baby that the chance of any chromosomal abnormality would now be 1/11 because I would then be 43 at delivery (recurrence of T21 would be 1/24 or 4.1%). That was stunning news to me – the chance of any genetic abnormalities almost doubled from 4.7% to 9% in just a few months. She also advised us that our OB would likely not do the termination nor would it be covered by insurance. We should make an appointment at an abortion clinic as soon as possible. We could always cancel the appointment if we got a good test result but, as she gently reminded us, that wasn’t likely in our case. I was going to have to go to an abortion clinic to terminate our wanted pregnancy when we found out the baby had a genetic abnormality. She asked if people knew about the pregnancy and said we could just tell people the baby had a medical issue and died. We didn’t owe anyone any explanation about our choice. And, the unsaid words were that if we told the full story, we would likely be judged harshly.

We started with an ultrasound and all of a sudden that hope I had been carrying around evaporated. My husband pointed it out—it was such a noticeable change. In one week the nuchal fold had increased 30%—no longer normal and changing fast for the worst. The CVS test was difficult. The doctor attempted multiple times to administer the test through the cervix but couldn’t make it work. Finally, they decided to go through the belly. I did a pretty good job holding it together until that point but then I started bawling. The doctor asked if I was in pain and the nurse piped up, “Not physical pain, right? Emotional.”

I nodded and said, “I just feel so bad for Poppy.”

Results were due back in 10-14 days. My husband declined to receive the quick (FISH) results because we would make our decision based on the full results.

The next day, I called the abortion clinic with a program for genetic abnormalities. Through sobbing, I managed to make an appointment for the following week to terminate the pregnancy. The lady was very kind and patient and confirmed that yes, I could cancel if we received a good result. My mom changed her plane reservations so she could be with us regardless of the outcome.

The waiting is the hardest part. My husband told his family and close friends what was going on. I just told my mom and a few friends. I couldn’t bring myself to tell everyone that knew about Poppy until I knew for sure. We had a destination wedding to attend and I was grateful for the distraction that last weekend.

When we returned from our trip, there wasn’t a message on my cell phone or work phone so I emailed the genetic counselor to check on the results. She wrote back, confirming T21 as expected. Confirmation of T21 at 13 weeks + 6 days. So we weren’t going to be able to cancel the termination and reality set in along with a never-ending stream of tears. I was grateful that my mother would arrive on Thursday to help us and take care of our other child if needed.

The next day our OB called. She said she supported our decision and would do the termination, but that it wouldn’t be covered by insurance in the hospital. As a consequence, it would cost thousands of dollars. Our perinatologist called too and expressed condolences.

I did lots more research over the next few days to make sure I didn’t miss anything. I was grateful to find the Ending a Wanted Pregnancy website and read other stories of parents who were similarly situated. I am also grateful that we learned early about Poppy’s diagnosis. I had a full month to research, cry, grieve and feel at peace that we were making the right decision. Because of arcane abortion laws and continuous attempts to make it difficult for families to choose for themselves, many families are left with just a few days to decide at considerable expense—both emotional and financial.

I learned that grieving the termination of a T21 baby is complicated. First, you grieve the healthy baby you hoped that you would be adding to your family. Second, you grieve the baby that you made the choice to terminate because you aren’t willing to take that chance on a poor outcome for a baby you love. Third, because of all the rhetoric about T21 specifically, you also likely grieve a baby who might have been affected but not too much. This third baby is where all my guilt is coming from because even though it seems unlikely, the rhetoric still manages to soak in. And, all of a sudden, I understood why women say they wish that they would have had a miscarriage to avoid making the choice to terminate.

I finally brought myself to send texts to the remaining family and friends who knew about Poppy but who I hadn’t told about the T21 and the looming termination. I was having trouble talking about it. I still do.

Termination – 14 weeks + 2

Arriving at an abortion clinic with protesters is an intense experience. I did clinic defense while in college. This abortion experience has been a wakeup call that I need to step up and protect women’s rights to choose. There were protesters with bullhorns screaming at women arriving at the clinic. There was, understandably, a security guard at the front. We were told we couldn’t bring anything inside even though we could be there for eight hours. We received a dispensation to bring in reading materials and my mother’s knitting.

We were shown to a private waiting room for the genetic abnormality parents. Initially, we had the room to ourselves. We turned off the TV and realized that the reason the TV was blasting was to drown out the sound of the protesters. Luckily, I was able to tune them out. Because I was 14 weeks and 2 days, the termination would be a one-day D&E procedure. There was an ultrasound but we couldn’t get a good look at Poppy. I understand some people probably don’t want a good look, but since it was the last time I would be able to see my son, I wanted to try.

Then I had another meeting with a counselor. Once they confirmed we were going to proceed with the termination, we were sent to pay for the procedure. Did we want cremation? Did we want handprints? Oh wait, your baby is too small for handprints.

Back in the genetic anomalies waiting room, two more couples had arrived. Both were around 20 weeks along and had just found out in the last few days that there were severe problems. Given the impending cutoff for an abortion, time was of the essence. One couple was from two states away and one from the far southern point of the state. One brought their sibling who had enough room on her credit card to pay for the procedure. Gratitude check again.

Next, we saw the nurse who put in an IV and administered Cytotec to soften my cervix. My husband and I were shown to a small waiting room where we waited some more. My mom stayed in the first waiting room and chatted with the other families. This was going to be a two-day ordeal for them since they were further along. Another gratitude check.

Finally, I was called back for the termination. The IV line wasn’t working so they had to start another one. I went to sleep. When I came to in waiting room, the kindest nurse comforted me as I cried uncontrollably again. A young lady was brought back into the recovery area. She loudly thanked everyone and told us her life story as a preacher’s daughter in the south. It was almost comical. I was finally judged recovered enough to go home.

Home again

For the next few days, my husband and my mom looked after me and let me rest to aid recovery. And, then it was back to waiting. This time waiting for the notice from the post office that Poppy was ready to come home. Today was that day. And, now, with the exception of choosing a memorial for Poppy, life goes on just as it ever was. Except that now while everything is the same, it is at the same time totally different.

I hope sharing our story helps someone. Reading other parents’ stories helped me so much during all the waiting and really helped me feel less alone and stigmatized.

 

Photo by Jakob Owens on Unsplash