It has been 24 hours since my husband and I got some of the worst news that any parent could receive. Our unborn child, due in under 2 months, has been diagnosed with Trisomy 18.
I found out that I was pregnant with our 3rd child while my husband was in New York for a weekend getaway with friends. I don’t remember why, but I took the pregnancy test at around 5 in the morning. I’m not generally up that early, and I can’t remember why I was at that time.
We had been unofficially trying to get pregnant for a couple of cycles, so I was over the moon and a little bit terrified. The first person who knew actually wasn’t my husband. It was my best friend, who was staying with me at the time. I woke her up to tell her. I don’t think that she was thrilled at being woken up at 5am, but I knew my husband would be asleep and not answer texts or possibly phone calls, and I had to share the news with someone.
We have had 2 previous, very healthy pregnancies – leading to the births of our daughters, aged 4 and 2. I had no expectation for this to be any different.
At our 20 week ultrasound, we found out that we were expecting a boy. Everything else looked good on the scan except for a small abnormality called a choroidal plexus cyst. The doctor assured us that these are very common in developing babies and that they are generally gone by the next ultrasound. Innocently, I asked her if they could indicate anything else, and she mentioned that there is a loose association with Trisomy 18. Nothing else on the scan was concerning, so I didn’t even give it a second thought. Our pregnancies had been healthy in the past, and this kind of stuff just doesn’t happen to us/me. It was just a fleeting piece of data that my brain decided it didn’t need.
There were a few things about the heart that they didn’t see well on the ultrasound (because the baby was in a weird position), so they scheduled us for a recheck ultrasound in a few weeks. I didn’t give it much thought.
At the recheck however, the technician spent a long, long time scanning him. When I asked if there was a problem, she mentioned that the baby’s abdominal circumference was dramatically small. When I asked how small, she said that she would have the maternal fetal medicine specialist speak with us.
We had made the mistake of bringing the girls with us to the ultrasound, as we wanted them to see their baby brother, and we had no expectation of any abnormalities. They were very well behaved for their age, but speaking with a medical professional with 2 small children running around is a recipe for disaster. She briefly told us that the baby’s abdominal circumference was in the <1%, and this was “drastically reduced.” When I asked for more details, she indicated that it would be something that they would watch. I asked if it could indicate growth restriction, and she said that it could, but they would be monitoring for trends. That was it. No other conversation. Everything else looked normal on the scan.
We left the ultrasound shaken but unclear on the significance of the findings. Could it be technician dependent? Could he just be small for gestational age? Was there another benign explanation besides growth restriction? Having medical training, I then spent the next 3 weeks researching growth restriction and came away reassured that our baby was probably fine.
They repeated the scan 3 weeks later, and the baby’s abdominal circumference remained tiny. At that time, they all noted that I had a higher than normal level of amniotic fluid, and the cord anatomy was very unusual (“hypercoiled”). It was then that I asked the MFM specialist that we were seeing if we should pursue any other testing, as it was clear now that he was being diagnosed with intrauterine growth restriction. I specifically asked about the utility of screening for the trisomies, as we had previously declined those tests. The doctor seemed to think it would be a good idea to proceed with the Harmony free-cell DNA test – which screens for the 3 most common trisomies – 21 (Down syndrome), 18 (Edward’s syndrome), and 13 (Patau’s syndrome). If the tests were negative, they have a high reliability. If one of them was positive, we would be faced with the decision of whether or not to have amniocentesis done.
Again, my training in epidemiology kicked in, and I started doing research. The Harmony fCC-DNA test is very sensitive – picking up 99% of positive tests. The high sensitivity however means that it has a high false positive rate. I was more interested in the positive predictive value – the likelihood that a positive is true. Those numbers are harder to find. At the time, I researched a little but I didn’t spend much time on it.
The MFM Doctor said that the initial results would be available in about a week. At that time, I was mildly anxious, but more that we would have a false positive and pursue invasive testing that would turn out to be nothing. I don’t think at the time that I really considered that it might be a true positive for one of the trisomies.
I will never forget the day that our doctor called. It was Monday, June 20. I had worked all day, and it had been a good day at work. I met my husband and daughters after work for dinner at a local Mexican restaurant. As we were finishing, I glanced at my phone and saw a missed call from my doctor. This startled me, as she had called on her cellphone and after hours. I was immediately anxious. I tried to call her back twice but just got voicemail. I asked her to call me as soon as possible. We went home and started putting our girls to bed. Sometime in the midst of that preparation, my phone rang.
It was Dr Coulson. “I’m sorry,” she said. “It’s not good news. The trisomy 18 came back positive.”
I think I went numb there for a moment and then tears started to stream down my face. My daughters were both there and they were confused as to why mommy was crying. I didn’t talk much to the doctor that night, I just asked how likely it was that this was a true positive. She merely said that she was concerned. I had my weekly appointment scheduled for the next day, so I knew I could collect myself and maybe have a more rational conversation then.
I broke the news to my husband who immediately broke down into sobs. Unfortunately, we had to get the girls in bed, so there wasn’t time to talk or absorb.
I think even then that we knew that it was real. Even though the false positive rate is high with the test, given what we were seeing on the ultrasound, there didn’t seem to be any other reasonable explanation. Still, a shred of hope for us remained. We didn’t know yet for sure.
My appointment the next day was at 230, but I woke at dawn, cried for a while, then decided to go in when they opened to see if they could see us early. I was also concerned because the baby seemed to be moving less than normal. I’m sure it was paranoia given our recent news, but nevertheless, I was concerned.
The staff got us in right away. As I was checking in and having vitals done, the nurse asked when I had last felt him move. I said that he was moving currently, but his movements seemed decreased. I might have imagined it, but I think the nurse slightly rolled her eyes – probably thinking “hypochondriac mother.” The nurse patted my shoulder somewhat condescendingly and said “hopefully he’s just being lazy today.” At that point, I burst into tears and said, “not if the doctor is right about trisomy 18.” When she took my blood pressure, it was an incredible 180/90 (I normally run 100/60). At that point, she gently patted me but didn’t offer false reassurances.
They set us up for a non-stress test which was reassuringly normal and then we spoke with the MFM specialist. At that point, we were faced with the decision of amnio or just wait until he was born and see what happened. After talking with her extensively and asking many questions, we decided to do the amnio. Having a true positive and knowing would make palliative care options available as well as genetic counseling. It would also mean that we would be able to plan his birth more carefully and hopefully know somewhat ahead of time what we wanted to do for him.
Our biggest concern was risk to our baby, and after talking with her for a while, we felt comfortable that she was extremely experienced and the risk to myself and the baby was very low (published data says 1 in 200-400 experience complications, but the actual complication is likely somewhere closer to 1 in 1600 – especially when done by someone experienced). She graciously offered to do it immediately, or we could keep our 230p ultrasound and have it done then. She briefly went over the procedure, and we decided not to inconvenience the staff, and just wait till 230p. It wouldn’t change anything to do it a few hours earlier.
We spent the intervening few hours together while my mom cared for our kids. We ate breakfast, although I only managed a few bites. We decided to stop at a nearby toy store and buy surprises for our kids then go to the bookstore and browse for a while. We somehow managed to burn time until the amnio.
During the procedure, our doctor continued to be very gentle and informative. She let me know at each step of the way what she was doing. First, she scanned our baby boy again to see where he was and where a large pocket of fluid was. Once she found it, she scrubbed my belly with betadine. She then talked me through what she was going to do and how it was likely to feel. I wasn’t scared much even though the needle was large, and it was about to be near my baby. Dr Coulson was reassuring and had done many, many of these procedures. My palms started to sweat a little, but the needle didn’t hurt much. While it was in my uterus, I felt a strong menstrual type cramp around the needle, but other than that, it was fine. She had to draw out four large vials of fluid, and it took about a minute from the needle entering until she was done.
When she was finished, I think my husband and I both felt a brief time of relief. We knew that a definite answer was coming, as amniocentesis does not have false positives.
The next 48 hours until the preliminary results were available were the longest of my life. I spent time on the Internet and there found a calculator that would tell me the positive predictive value of our original Harmony test based on my my age. It was 51%. That means that 51% of the positives that occur on that test are true positives. And that’s in isolation. We had the abnormal ultrasound findings too. In my heart, I knew it was real, and I spent much of that night and next morning weeping for my child. The brief sense of calm and respite after the amnio only lasted a few hours.
Wednesday, June 21 was the longest day of my life. I got up early to take my oldest to her YMCA swim lesson and then came home. An elderly lady patted me and asked when I was due. When I said August, she smiled broadly and asked, “how are you feeling?” I replied, “not good.” She must’ve been hard of hearing or the pool room was echoing because she just smiled a big smile again and patted my arm.
My best friend came up Tuesday night to help, and she took care of the kids while I slept away most of the day. I didn’t eat much or interact with anyone other than via text and Facebook messenger. The doctor texted to let me know that the prelim results would likely be available before noon on Thursday.
We woke early on Thursday – with the sun. I laid in bed the whole morning, waiting for the phone call. At 1030, I texted our doctor, and she said that the lab was hoping before noon. At noon, she texted me and told me that she was going to call the lab, and did she want me to call with the results or text them. I asked her to call. A few minutes later, the phone rang. My palms immediately started to sweat, and my heart was racing. Again, in my heart, I knew what we were going to hear, but I clung to the tiny possibility that we were wrong. That it was all a big awful coincidence.
I put Dr Coulson on speakerphone, and she didn’t beat around the bush. “It’s what we expected,” she said, “the test confirms trisomy 18.” My husband put his head down and began to cry. I did too, but I was controlled enough to ask her what the next step was.
She explained that we would need to make decisions about labor, delivery, interventions, etc. She would be getting us a referral to the genetics counselors, as well as to the palliative care specialists. (Palliative care. There’s a word you never want to hear associated with your soon to be born child.)
After we hung up, my husband and I laid on our bed and cried like the world had ended.
And that was 24 hours ago. It seems a lifetime has already passed.
In those 24 hours, I’ve thought of funerals – cremation or burial? Labor? Natural and let it happen how it will happen? Or controlled carefully to give him the best chance for survival (up to 35% of these babies die during labor)? Interventions to keep him alive or comfort care only? How will we know? How can we plan? Will he even make it to be born or will he die inside me? How will I work? How will I counsel distraught owners with regards to their terribly ill pets without becoming extremely emotional? How will I help people ease their pets’ suffering with the gift of euthanasia without becoming completely unglued? Will we try to have another baby after this baby is no longer with us? Is it wrong to think of that at a time like this?
I cannot foresee what the future holds, but I know this : this morning I woke up and little boy was having a party – wiggling, kicking, and hiccuping. He is here with me now. I don’t know for how long. I don’t know if I’ll ever get to meet him while he draws breath, but he is here now, and I am going to hold as tightly to that as I possibly can and let the future bring what it will bring.
And we have decided on a name: James Julian – after both his great grandfather, a St Petersburg, Florida officer killed in the line of duty, and after his father, James.