For women with a known chance of a high-risk pregnancy, finding out you’re expecting can be a terrifying experience. I am one of those women. It’s difficult to share such a personal journey, but it is also cathartic. And I hope I can help other women going through their own high-risk pregnancy by sharing my story.
Before We Knew I was High-Risk
When I was pregnant with my first child, I was blissfully unaware of the chromosome abnormality I could likely pass down to my children. Because we chose not to have any genetic screening or testing done, we were able to enjoy the pregnancy without any fear or trepidation of what was to come. We were like most expectant parents who celebrated with baby showers and decorated a nursery, etc.
My pregnancy was smooth, delivery was fairly uneventful and we had what we thought was a healthy baby girl. But our lives were shattered 12 hours after her birth with the news that she had Partial Trisomy 18 (almost 3 copies of the 18th chromosome). One of the best moments in our lives quickly transformed into a living nightmare. The doctor told us she would survive a few weeks to months. (She is a fighter and still with us 10 years later, but that’s another story).
My daughter’s diagnosis led us to discover that my 18th chromosome has an inversion within it. In simple terms, it’s like a piece of that chromosome was cut out and put back in upside down. While I am a healthy, typically-developed person, when my chromosomes replicate, they could get screwed up. And that is what happened with our daughter. And it could happen again in subsequent pregnancies.
I wanted nothing more than to have more children, but doing so was now a terrifying proposition since it would be such a high-risk pregnancy. My husband and I decided to try IVF with a procedure called Pre-implantation Genetic Diagnosis (PGD). This allows doctors to test the embryos for genetic anomalies (like Trisomy 18) before implanting them back in the woman. Unfortunately, this procedure didn’t turn out well for us. While we had 3 “healthy” embryos identified, none of them became viable pregnancies. I was shattered yet again.
Over the next several years, we suffered more tears and disappointments. We sought assistance from fertility specialists, suffered an ectopic pregnancy loss, I underwent procedures to improve our chances of conceiving, researched and looked into donor eggs, considered adoption, etc.
Two Blue Lines: Finally Pregnant Again
Then, after 5 long and painful years, I discovered I was pregnant again. I had long given up on this possibility and should have been excited and happy. Instead, I felt shock, despair and sadness. Most women who’ve been trying to conceive cannot comprehend the feelings I had in that moment of seeing 2 blue lines. They’d be jumping for joy. But when you know you’ll have a high-risk pregnancy, those feelings are different.
I set the test down on the bathroom counter and went to bed. I mumbled something about it to my husband in a monotone voice and drifted off to sleep. There was no hope or joy. Only fear of what was to come.
The Fear was Overwhelming
In the weeks and months that followed, I was terrified. We had a 50% chance of a chromosome anomaly happening again. I wanted to be happy and enjoy my pregnancy, but I was too scared to let those feelings in. I was trying to protect myself from the heartache of learning I had passed along my lousy chromosomes again.
My mind was on alert. At every tiny sign of something unusual or slightest spotting of blood, I was on the phone with the doctor’s office and seen immediately for a reassuring ultrasound. I was sick with pregnancy hormones, but I was also literally worrying myself physically sick. My father had to come help me take care of my daughter and I had to step down from my leadership position within my MOPS group because I was too sick and stressed to handle my own life.
I had a handful of close friends who knew what I was going through with this high-risk pregnancy and I put them through the wringer with me. My fear and worry were out of control and I drove them nothing short of crazy. It was awful…for everyone!
Simple, unobtrusive genetic blood tests are good for identifying many types of chromosome abnormalities, but not a Partial Trisomy. Our only option was to go with a more invasive procedure that couldn’t be performed until I was at least 12 weeks along. This came with risks, but we were willing to take those to get the answers I needed.
At 12 weeks, I underwent a procedure called Chorionic villus sampling (CVS), where they take a sample of cells from the placenta. These cells are the same genetic material as the baby so they can test for chromosome abnormalities like Partial Trisomy 18. We had to travel to Denver (an hour away) to see a doctor who specialized in this procedure.
I remember signing consent forms acknowledging the risk we were taking with this pregnancy and procedure. The doctor and nurse were very friendly and reassuring. They carefully explained everything they were doing and what they were seeing on the ultrasound during the procedure.
My husband and I watched the ultrasound closely looking for any positive signs we could see (even though ultrasounds are impossible to read to an untrained eye). We saw a perfectly open hand waiving at us (clenched hands are a sign of T18) and “normal” shaped feet (many T18 babies have Rocker Bottom feet). We began to be hopeful, but we still had weeks of uncertainty ahead of us as we waiting for the test results.
You know those moments in your life that you will forever remember every detail? The phone call from the doctor’s office with the test results was definitely one of those moments! I was standing in the kitchen by the window when the phone rang. It was mid-afternoon and my daughter was playing in the living room. The phone rang from a number I didn’t recognize. I answered with trepidation and the lady on the other end asked to speak with me. The call itself is actually a blur, but I do know she told me the baby was healthy with no chromosome abnormalities at all!
I hung up and called my husband at work and cried out, “she’s healthy!” (We had previously found out it was a girl from the preliminary test results). I called my dad and told him the same thing. I balled like a baby! Then my husband, daughter and I went out to dinner to celebrate. The relief was amazing and intense. We were so excited, I think we actually picked out her name in the car on the way home from that dinner!
A Little Relief
The rest of my pregnancy wasn’t worry-free. I got a phone call a few weeks later that explained my baby wasn’t actually chromosomally perfect. In fact, she had an exact copy of my inverted 18th chromosome. As with me, this means nothing for her own health, but it does mean she will have to deal with these same problems when she is ready to have children of her own. My heart breaks for her knowing what she will have to go through, but I am hopeful that modern medicine will improve greatly by then and she will have more options than me.
I also continued to be nervous about her health and a safe delivery. PTSD affects your mind in weird ways. Even though I knew she was okay, I was deeply traumatized by everything we had been through with our first and all the losses we’d suffered. I think that’s something anyone whose been through a high-risk pregnancy or loss can attest to.
Today, this baby in this journey is a happy, healthy, vibrant 5-year-old. She has made my world perfect and complete (even though there are days when she makes me want to pull out my hair). Those 9 months were difficult, the first 3 were downright excruciating, but it was all worth it.