As I watch my children grow, I can’t help but feel that our family is not yet complete. I do not feel that my infant days are over. Now that Calvin is almost 7 and Conor is 4, we are past a lot of the ‘hard parts.’ No more bottles or diapers, they can dress themselves and even brush their own teeth. They can largely entertain themselves and we can even go out to eat without it being too much effort to be worth it. But still, I dream about a baby laid across my chest sleeping soundly. The boys too dream of having a baby to dote on, love and show off to their friends.
Before I had children someone gave me some interesting information. You might call it advice but at the time, I didn’t know how to take it. They said that your first kid is your practice child. They were right, in a way. The change that happens as a person becomes a parent is significant. Our children bring out all of our fears and unhealed parts of ourselves. WE are truly challenged as to who we are in a way that no traveling or career can do. We may have declared that we would parent differently than our own parents, only to realize we have no idea what that actually means. We have to hunt for resources on how we should parent to achieve our goals. And a lot of it is the learn as you go plan. You learn that kids are all different and one might respond well to a certain parenting style that might crush another, more sensitive kid. You learn that true love leads without shame or fear. While my first son, Calvin, taught me how to unconditionally love another, Conor taught me the joy that comes with relaxing in that love. My third son, Colin, taught me how to say goodbye and alas he did not join our family.
My fourth child, Sadie, will also not enter this world. We found out a few weeks ago that our fourth pregnancy, a very loved and wanted pregnancy, was a little girl and she had Down syndrome. At 12 weeks of pregnancy, a genetic counselor called to give me the results of our NIPT test. I knew that was bad news and already had an instinct that our baby was a girl with Down Syndrome, I’m not sure how I knew. I avoided the call. I called back once I felt ready for this news. She told me that the NIPT came back with a high risk for Trisomy 21 (Down Syndrome). A genetic counselor by training myself, I knew what this meant but I did not practice after NIPT came to market ~10 years ago. I asked her “how high is the risk?” and she said 90%. Oof. That hit my heart like a dagger. I asked her if she could tell me the gender. She checked and said “it’s a female fetus.” And the dagger twisted. I cried and thanked her for the information. She said that they could see us for an ultrasound that afternoon or a CVS in the morning at the downtown office. I was thankful I had chosen to go to the high risk clinic from day 1. Having chosen a high deductible insurance plan allows me the flexibility to refer myself and had been seeing a midwife there I liked quite a bit but there were always MFMs there when needed. I told her I wasn’t sure what to do. I called my husband for the next 20 minutes and he did not answer. I cancelled my afternoon meetings and drove home. I woke him from our 4yo bed as they were slumbering together. I pulled him into our bedroom so Calvin wouldn’t hear and I told him what I had learned. We cried together. My mother came over and we went straight to the office for the ultrasound. I asked the genetic counselor to review everything with my husband, then we went to look at baby. I could see it as soon as the ultrasound tech did. The space behind the babies’ neck was larger than it should be. Normal is less than 3mm but most healthy kids are around 1-1.5 (as were Calvin and Conor’s). Sadies’ NT (nuchal translucency) was 4.85mm and I could see that it extended the length of her back. I sobbed. Chris cried in response to my distress. We got some pictures of our sweet girl before the MFM came in to tell us the findings. She looks great except for a cystic hygroma, a hallmark of Down Syndrome. With that information, the risk Sadie has Down syndrome is now 99%. A CVS, a diagnostic test, is invasive and would give us ‘conclusive’ information. I say that in quotes because that is also a test with 98-99% accuracy where there are some exceptions to the rule and the babies chromosomes don’t always match the placental chromosomes (both NIPT and CVS are sampling placental derived chromosomes). Having seen a traumatic CVS when I was a student, I declined, feeling comfortable that the ultrasound had given us the information we needed to confirm the diagnosis that NIPT had identified.
I honestly did not know what I wanted to do with this information. They could schedule an early anatomy scan at 16 weeks or they could provide us information to end the pregnancy, should that be our choice. I scheduled the ultrasound but asked what our options were. If we wanted to end this pregnancy, we would need to travel to Virginia. South Carolina had recently passed a bill so that pregnancies cannot be ended once there is a heartbeat (so basically, no abortions, all of my pregnancies have had heart beats by the time I knew I was pregnant around 6 weeks). North Carolina allowed termination up to 12 weeks for any reason, up to 20 for terminal genetic illnesses, but not Down Syndrome. For days, I agonized over what to do with this information. Lying awake each night mulling over the details and googling. To my husband it was clear, we should end the pregnancy and try again. For me, it was not as clear. This was my daughter.
Sadie and I had already experienced so much together. We had just recovered from the flu. Traveling back from Palo Alto on July 19, the day microsoft/crowdstrike broke Atlanta (among other things), I was lucky enough to make it home with only a 2-hour delay. But I hadn’t eaten all day and was tired. The next day, the tell tale body aches and nausea hit hard. For two weeks I was run down. At one point, I couldn’t breathe and thought it might be the end for both of us. I worried that the medications I had to take had hurt the baby. But ultrasound at 10 weeks showed a strong heart beat and she was OK. When we received the news of her extra chromosome, I had just started to feel like a normal human again. Pregnancy at 38 is hard. It’s exhausting and the nausea seems to get worse with each pregnancy. I had fallen behind in work which is important to me as well. How could this be happening now? Why does she have to have Down syndrome? How can I possibly make this decision? It felt like no choice at all.
For a few days, I tried to estimate HER risk of miscarriage and taking this decision away from me. The statistics tell us that fetuses affected by DS have a 30% chance of miscarriage by 16 weeks and 20% until full term. I called the genetic counselor and asked her what she thought. She said that her cystic hygroma wasn’t large- definitely there but not large and would likely resolve. This could be a more positive pregnancy outcome. We wouldn’t know if she had a heart defect until at least 16 weeks in pregnancy (something very severe could already be detected), but it’s a good assumption given the cystic hygroma. The extra fluid behind the neck indicates that the heart is not circulating fluid as it should. If the cystic hygroma goes the other direction and doesn’t resolve, she could develop hydrops which can be fatal. If she is born, there is a high likelihood she will need surgery to repair a heart defect. Other health concerns are low hypotonia leading to breathing and eating difficulties, thyroid problems, high risk for leukemia in the first three years and lastly GI tract abnormalities like biliary atresia which may require surgical repair. All in all, 85% of babies with DS survive their first 2 years. Lower than a ‘healthy baby’ but greatest likelihood is a baby that is born will survive.
Could I bare a loss later in pregnancy? Could I bare to lose a child after birth? As a college student, I read ‘Waiting with Gabrielle’ about a mothers’ choice to continue a pregnancy affected with hypoplastic left heart syndrome. She wanted to experience all of the time with him that she could and held him as he passed. I understand that feeling and part of me wanted that too. As we learned of Sadie’s diagnosis, I watched a video on Inside Edition about a mother in a similar position that decided to continue a pregnancy affected by DS. He never left the hospital. He lived for 199 days and was not held the last month of his life. The mother tells a very positive story of love and holding him on the roof of the hospital as he died. She had no regrets. Is that reality? We all have regrets. Every decision we make comes with challenges- you choose your hard. What I heard was a story of torture, for that baby. Sure he had a few good moments in his short life, but he didn’t get to feel love in his last days and was also traumatic for that family. If I knew this were my outcome, I would end my pregnancy, I thought. A termination is one traumatic event, while a later loss is many traumatic events.
As I researched outcomes about DS, the only stories told are positive ones. Most children with Down syndrome have some level of intellectual disability and it can be severe and very limiting. Some are quite high functioning and these are the children you hear about, the many that can learn to read and even hold jobs. I believe a lot of this is pro-life propaganda. The statistics do not support this rosey picture. Being a genetic counselor, I knew where to check for accurate information. Chris and I read about the health risks. I also read the statistics. In America, 67-85% of couples decide to end the pregnancy. And the pro-lifers are actively working to outlaw the termination of pregnancies affected with DS. Where were the stories from the families that struggled? Are they simply not talking or not able to talk about anything but the positives – it makes sense. Where were the stories and words from those that had discontinued their pregnancies? How did they make this impossible decision? In a facebook support group (Pregnancy after loss support), the only words were those that wanted to tell me that people with DS are wonderful people. I have in fact heard that kids with DS are ‘always happy.’ But that is not actually true, it is a misconception from those that spend a few hours with those that are highly functioning. People with DS do have a higher rate of depression, but it’s under diagnosed because many cannot communicate. The rate of ‘high functioning’ is not a number that is available, but my googling into the bowels of the inter-web revealed it’s maybe as high as 30%. The families that had reached out to tell me about their delightful experience with their child with DS told me about what sweet babies they were or youths that were wonderful older siblings and that this experience had strengthened the entire family. But what about the teenagers and adults? All I could think about is how much harder life would be with a child with extra needs. It would change the trajectory of not only my life, but also my husbands’ and my children’s lives. Is it fair to them? My husband, the stay at home parent, struggles to be patient with my neurotypical kids. Could he handle this? His perception is that he cannot. And me (the mom) being the stay at home parent, like many families with a child with DS, is not an option. I love my career and I am the breadwinner.
Not only would the next 10-20 years be harder on everyone, but what would happen to Sadie when she becomes an adult? Our midwife told us about a patient who was 27 and had a slightly older brother with DS that was non-verbal and couldn’t walk and rode in a wagon with his sister to her appointments. No one talks about the adults with DS that ARE NOT high functioning. We turned to resources provided by the social worker- tales of those that have terminated for this reason, but also Reddit. There are Sub-Reddit’s for TFMR (termination for medical reasons) where many made this choice. There is also a Sub-Reddit for those seeking support with Down Syndrome. Siblings that choose to take on the care of their aging brother or sister that has developed Alzheimer’s and needs 24/7 care. Many adults with DS live to 60 or 70 and 30% will have Alzheimer’s by 50 and 50% will have been diagnosed by 60. There was another post from a sitter who watched a 45yo woman with DS who just wanted to watch tv and eat. And had constant meltdowns when encouraged to do anything else. I’m 38 years old and would be 39 by the time Sadie was due to be born. If she survived the pregnancy and infancy, what would her life look like? Was it fair to Calvin and Conor to be sidelined by a sibling with such significant needs? Forever? It would be never ending, unlike the transient couple of years for a baby without those extra challenges. And you might think, even without DS, there is no guarantee of a ‘healthy baby’ and that’s very true. But I do know this, is it fair to move forward with this pregnancy with this information? Even if she is high functioning, which again is not likely given the stats, no amount of therapies or intervention would change that, she is not likely to ever get married or have children of her own. Is that fair to her? And if she’s not high functioning, she will require someone to care for her when I no longer can. While I know Calvin or Conor would rise to that occasion, what will it take away from their lives? Everyone says how wonderful the experience of raising a child with DS is, that it makes their other children more compassionate and accepting. Reading the DS Reddit tells me that is not always the case. Some siblings really struggle. Could I knowingly choose this for all three of my babies?
If I had chosen to continue my pregnancy, I would have fought for Sadie and loved her fiercely every step of the way. Having experienced a lot of trauma throughout my life. Trauma that I’ve only recently begun to heal from after years of therapy, I did not think I could handle this. The worry and the stress of a ‘sick child’ would likely have triggered my PTSD. A stressed and anxious mom is not a loving, kind or patient mom. I have worked very hard to become those things over the past 5 years. While I very much look forward to bringing another child into our family to love, I do not think this is the right choice for Sadie or for us.
At 14 weeks of pregnancy, a fetus is still small, about the size of a lemon, they do not yet feel pain and are not a baby. At 14 weeks of pregnancy, we chose to say goodbye to our sweet Sadie. The baby I had pictured sleeping on my chest and the baby my husband had pictured in blonde pigtails giggling as he played with her. But the outcome could have been anything but. A later pregnancy loss would have been incredibly traumatic. An infant loss, even more-so. I could have waited until the 16 week anatomy scan to learn the extent of her heart defect, if any. But ultimately, I didn’t want her to suffer a lonely adulthood without the life that most would have, without a partner and child of her own to love. If I were 25 and this was my first pregnancy, I likely wouldn’t have known about this diagnosis until a 20 week scan and that would have been a much more difficult choice. Once a mother can feel a baby move (around 16 weeks), the attachment to that pregnancy is 1000x more than before that. At 25, I could have made very different choices knowing that I would probably survive as long as she does. I could also have chosen a different financial path that didn’t rely on me working a challenging corporate job. But at almost 40, if she survived into adulthood, she would most likely survive me and be alone, unless one of her brothers took over her care. I simply couldn’t make that choice for them or for her, or for me.
As we decided to end the pregnancy and say goodbye to our sweet Sadie, we grieved. We grieved the healthy baby girl that we fantasized about. We grieved the third baby that we would hold and love. We accepted that this was a pregnancy that would not continue and that there would be another loss. We accepted that now was the best time to say goodbye and that delaying the inevitable in search of more information, would only make this harder for everyone involved. The boys grieved their little sister that they so deeply desired. Colin, having passed before my 19week appointment had taught me what to expect. The same procedure, dilatation and evacuation, would be done again. This time, earlier. My body and my mind were prepared for this. It was a very different experience, but yet the same. In a different hospital, 7 hours away, I was aware of my incredible privilege. Many cannot afford to make this choice. All we had to pay for was the gas and food. I used my points from work travel to book our hotel and since I work for a California based company, my insurance would cover the cost of the procedure.
I quit my job at MUSC nearly 10 years ago because I didn’t make enough money to cover by living expenses, even with a roommate. I chose to go into industry because I felt exploited as a clinical genetic counselor working for the state of SC. The health insurance was terrible. Pre-Affordable care act, being a woman was a pre-existing condition and I was billed $1000 for a pelvic exam at MUSC, a state run hospital and state employee insurance plan. Women are second class citizens in SC. That has not changed, with the exception of federal protections that have recently failed to protect us.
I often think about the impact of our decisions. The butterfly effect you may call it. Or alternative reality that spirals from every decision. What if I still worked at MUSC and we were struggling to make ends meet from the meager salary. Both of us would be working full time jobs which would have been a significant disadvantage. We wouldn’t have been able to afford this procedure which runs roughly 20-30K. At our consult, the Doctor that performed my procedure at VCU, when asked how we could truly make this decision, said ‘i find that people are resilient.’ She said that if we ended this pregnancy, we would recover and if we continued this pregnancy we would figure that out too. I sobbed. She’s 100% correct. We said goodbye to Sadie on a tuesday afternoon. I awoke and I cried. I felt very at peace with our decision. I am sad I will never meet her or hold her. But I am confident that the choice we made was made of love and we will all be OK. This was my choice.
MumGene 