To recap: we got word very abruptly from our OB that one of the test results of a Non-Invasive Prenatal Screen (NIPS) had come back positive for Down Syndrome. As a writer I research everything. I Googled the test and between articles and speaking with Heather Bradley of Down Syndrome Diagnosis Network I learned that my odds were likely far lower.
On my OB’s advice, we went to meet with a genetic counselor who also told us very firmly that there was a 99% chance of the baby having Down Syndrome. She gave us no information about Down Syndrome itself. All she had to offer for our situation was her belief that we should have an amnio. When I told her I wasn’t interested she talked over me “Or, right, you don’t abort for religious reasons.” I told her that I wasn’t having the amnio for medical reasons, but I felt like I was trapped in an absurdist play where I was speaking and no one could hear my voice.
Heather from the DSDN (read part one to see how I found her) got me in touch with 2 women to help me figure out my personal risk assessment. This was all I could focus on. If I could just get the number, I thought I could start to cope. Was I 40%? 30%? Lisa is an experienced genetic counselor and Stephanie is a very experienced mom to a son with Down Syndrome – data they sent me can be seen in the image below regarding issues with the test. The compassion that was missing from my OB and the genetic counselor came in spades from these ladies.
I began to look into the test. I had read enough to know that the “99% chance” they’d each quoted was not the likelihood that my positive result was correct (positive predictor value,) but a completely different stat: the sensitivity of, or percentage of cases of Down Syndrome, the test was designed to catch. They were giving me numbers that were wrong. If they got such basic information wrong I didn’t know what to make of anything they’d told me. Yes, the test is an easy result for 99% of people. But for those of who get an abnormal result and need help, it’s a travesty that the professionals couldn’t answer my questions.
I was having a really hard time processing the potential diagnosis because only a week before I’d gone a for screen where they look at the nuchal fold to determine risk for Down Syndrome. When the doctor came to look at the images the sonographer had taken, he said “Nothing to worry about here – everything’s perfect!” I gave him a thumbs up and big grin. Now, 8 days later, I was being told that the opposite was true.
As I researched I learned that these tests had initially been developed as a screen for invasive diagnostic tests such as amniocentesis (often called amnio) and chorionic villus sampling (CVS), which both carry small risks for infection and/or miscarriage as each involves using a needle to draw either fluid or placental material from the uterus. The cfDNA screen on the other hand carries the same risks as any standard blood test. It was designed to screen women to prevent unnecessary invasive testing.
Potential risks for a baby having Down Syndrome include age, family history, and an abnormal result on a screen such as a blood test or sonogram. My only risk-factor was age – I was 35 when I got pregnant. But I hadn’t yet had *any* prenatal screens when my doctor ran the Harmony test (one of multiple companies that make a cfDNA screen); I wasn’t even told what the test was or that it was being performed. This goes to the core of how I felt for the rest of my pregnancy. My choice had been stripped from me, and news that devastated me was delivered coldly by the very person who had ordered the test.
The result being right doesn’t change anything. Because the screen isn’t a diagnostic there was always a chance that it was wrong. As my other screens came back with typical results the maternal fetal medicine team at the hospital began to think I’d gotten a false positive. So even with 6 months of emotional pain knowing my baby could have Down Syndrome, I still had to wait for birth to know for sure. I spent 6 months reeling from poorly delivered news from a procedure I’d never consented to for a test I didn’t know existed! The whole time was a constant and conscious struggle not to imagine the worst.
The test was just used because it was a tool in my first OB’s kit. If I’d been told it was a pre-amnio screen, I probably would have said no. But I’ll never know. One of the more irritating things my OB did after the result came in was pressure me repeatedly to have an amnio even though she knew I was already at an increased risk for miscarriage.
And this is where I got a little neurotic. I taught myself enough statistics to WhatsApp friends and family members about the exact ratios of results that were right versus wrong, how many women that translated to per year, how many women my age, and therefore, how large a group of potential false positives I was in. I found this piece about the cfDNA screens by kimchilatkes and it became my new obsession. Multiple friends received messages from me, ranting about odds and probability and grasping on to any shred of hope I could find.
I spent my days playing with numbers. An 80% chance of being right meant a 20% chance of being wrong! 1 out of 249 at age 35 means 99.6% of live births are to babies who don’t have DS! And at 34 it would have been 1 out of 325, or 99.7%, so my risk had barely increased, and they were just wrong! I was growing convinced of it, and as all of my other screens were coming back normal I was fighting to stay open to the possibility that he would indeed have Down Syndrome. And my obsession was being fed by the fact that there are actual and very real problems with how this screen is used. It didn’t change my situation, but it gave me a reason to keep trying to mentally overturn what I’d been told.
I was scared. I didn’t want to be a special needs mom. I didn’t want to have a special needs baby. I didn’t want him to be physically unhealthy, I didn’t know how I would cope with a child who didn’t have the blazing intellect I take such pride in with my other kids. I was completely overwhelmed and I shut down into a manic obsession with this test. I have generally skated through life, and I couldn’t believe that God would intend this for our family, for my baby.
All I could do was try to figure out what the numbers were. Once the baby came, once he was in my arms, I knew I would love him. I knew it would be all right. But until then there was only fear. So I retreated mentally. As a friend put it, I was emotionally detached, sterilely looking at data. That slim chance of it being wrong was all I could focus on. I was in denial, researching statistics as a way to cope, and going on an insane path of trying to prove the test wrong.
I’ve gone back through messages and photos from my pregnancy to better understand where my head was throughout the rest of the year. I mostly remember being terrified the whole time. I’d gotten pregnant with a large fibroid, I was bleeding from a hematoma, and on varying degrees of pelvic rest and bed rest for much of the pregnancy. My first ultrasound after the positive NIPS result felt like a major moment of truth. The back and forth you can see in the message below of scared-while-relieved continued the entire pregnancy. As my belly grew so did my ability to deal with the potential diagnosis.
I was surrounded by people who wanted to help and didn’t know how. I made an email list of friends who I could be brutally honest with, and the stray thoughts that crossed my mind came their way. After every test, they got a version of the same message: everything came back normal, which doesn’t mean it’s not DS, but it’s still not confirmed.
I joined Heather’s support group for pregnant women who’d been told their babies would have DS. I was still emotionally so raw that looking at pictures of babies or children with Down Syndrome left me gasping for air between sobs. But there I found the great benefit to all of our other screens coming back negative: Chuck was healthy, no matter what else was coming down the pike. We had seen his nose, his palette, he was proportionate, his lungs and gut looked healthy, and most importantly the fetal echocardiograms showed very minor and very typical issues. We walked in ready to hear anything. When they told us there was a small hole between the ventricles and a little fluid build-up I almost passed out from relief.
While there are genetic counselors who have figured out how to give an overall risk assessment by factoring in age, risk-groups, and various screening results, I was not able to find anyone in New York who could do it. Even the maternal-fetal medicine experts at my hospital–who were wonderful and got me through the pregnancy without losing my mind–hadn’t been trained in how to weigh the DNA results with all of the other testing available. I was desperate enough to track down and email a genetic counselor from Washington state who I’d seen quoted in an article about these tests. I was so consumed with knowing my number as if it would magically make the rest okay.
I ended up switching OBs to Dr. Jessica Jacob, who was absolute in her disagreement with the 99% stat being quoted. My maternal fetal medicine (MFM) team was amazing about ultrasounds, blood tests, and 4D ultrasounds to look for soft markers of Down Syndrome.
I was also closely monitoring my fibroid. The same OB who had broken the news to me so poorly about the screen had told me, at all of 7 weeks, that my fibroid meant I’d be having a C-section. Every month at my growth scan I peered anxiously at the baby, at the fibroid, and at the hematoma.
As the year spun out things got harder to take. At the same time, I took comfort in knowing that I wasn’t completely in denial nor drowning in depression. I had the fibroid, a hematoma, bed rest, we were moving (yeah, we bought a house out of state in the middle of all of this!), there were mice in our rental, and I had gestational diabetes. On top of all of my general crankiness, I was now stabbing myself for blood tests and insulin shots multiple times a day. People said I was coping well, but I was doing everything in my power not to think. I was keeping busy whether with stupid distractions or helpful projects. In one scan they thought they saw something on his brain. 20 minutes of painful pushing with a transducer and begging him to move gave us the right angle to see that he was okay. I was constantly frazzled, constantly on edge.
It hit me that I was headed to a major meltdown in the delivery room, and I found a therapist to talk to about my building anxiety. I was convinced that I would be so overcome by anxiety during labor that I would hit a mental wall and end up having a C-section. We began working on relaxation techniques and talking about the general stressors in my life. When I ended up in the hospital at 32 weeks having contractions and stayed calm throughout the night I finally knew I’d be able to get my head around labor.
At some point, I decided that a precise risk assessment didn’t matter. The baby either had Down Syndrome or he didn’t, and all I could do was prepare for him having it while hoping he wouldn’t. And that’s exactly what I did. That was the point at which I finally moved from panicked semi-denial to the beginning of acceptance. But even then, when I would wake up in the middle of night to use the bathroom, I’d sit on the toilet, hugging my belly, and pray “Please don’t have Down Syndrome. Please don’t have Down Syndrome.”
At this point I’d started having regular checks with the MFM team. Non-stress tests, blood sugar checks, bio-physical profiles, and ultrasounds to measure growth filled my calendar. If you haven’t ever done it, it’s a crushing routine, especially if you have an actual life to deal with. Did I mention that I have 3 older kids? My poor children had less time with me, were barred from my lap, and couldn’t understand why I would just suddenly break down crying. I had friends, family, and a spouse to rely on to pick up the slack as needed, and I know how lucky I am.
We staggered through the last 2/3 of the pregnancy, circling towards our due date. Our moving date loomed immediately 12 days later. The stress of not knowing, of fighting off my imagination, or dealing with the well-meaning people who kept sending links that made me heave, left me drained. Below you can see me shortly before I had Chuck. And that WhatsApp below? 7 hours later I was on my way to the hospital to have a baby.
Coming tomorrow: Hey There, Chuck
Featured Image by Tatiana Vdb https://www.flickr.com/photos/kit4na/8570833723 https://creativecommons.org/licenses/by/2.0/legalcode
I hear you so much on the pre-screening tests. When I was pregnant with twins, my high-risk specialist (Not my regular OBG-YN) took it as a personal insult that I wouldn’t do an amnio. (Not for religious reasons, medical ones.) I felt bullied and at a time when I should have been given support. I’m so glad you swapped doctors.