How The [bleep] Did This Happen?
I don't know that I have ever put the full story down in writing of how we got here. This will be a lengthy post, but will explain all about our pregnancy, delivery and the shock that came quickly after. I also understand how unbelievable our story is so I want to lay it all out there.
At our 12 week scan, Henry's nuchal measurement, a measurement of the fluid behind his neck, measured at 3.5. With a measurement of 3.5 or higher, you are referred to a geneticist because of an increased chance of a chromosomal defect. The geneticist took us right away, and told us based on our history and the ultrasound, we had a 20% chance of having a child with a chromosomal abnormality. The geneticist offered us two options -- a blood test, called the MaterniT21, or an amniocentesis, which has a 1/400 risk of miscarriage. She pressured us to get the amniocentesis, and assured us she could get us in right away. She gave us a packet of papers explaining the most common types of chromosomal defects, including Down syndrome as well as two trisomies where the baby would not live more than 24 hours after birth. Tim and I took the papers out to his truck and we talked it over. Was the risk of a spontaneous abortion during the amniocentesis worth the 80% chance our child was "normal"? We decided no. But, we did decide that if our child had one of the trisomies in which our baby would not survive long, we wanted to make sure we had family ready to meet him or her at the hospital before he or she passed. We chose right then and there that we would not abort, no matter what the test results showed. I walked back in and informed the geneticist we would be doing the MaterniT21 blood test. She informed me that this was "not what [she] would recommend". I went right into the next room and had my blood drawn for the test.
My truly wonderful midwife called me and went over the ultrasound results with me. She mentioned that they found a nasal bone on Henry's scan, so that virtually eliminates the possibility of Down syndrome. We received the results of the MaterniT21 several weeks later. As you can see, our test results came back with 99.6% certainty that Henry DID NOT have Trisomy 21. Interestingly enough, they DID separate his DNA from mine because they were able to tell that we were having a boy. Somehow, the testing missed his three copies of the 21st chromosome.
Our MaterniT21 test results, showing a negative Trisomy21 result
While they were confident our son didn't have Down syndrome, the specialists still encouraged a fetal echo cardiogram. A forty five minute ultrasound, read by two doctors, determined that Henry's heart was just fine. They had no concerns.
We had several more ultrasounds throughout the pregnancy. Each time, we were told the baby looked fine. We finally felt at ease.
At 35 weeks pregnant, I started getting super itchy. I was diagnosed with obstetric cholestasis, which is liver dysfunction in pregnancy. If left alone, there is a chance for a stillbirth. The day I hit 37 weeks, I was induced.
I was induced late at night on Fathers Day, June 19. My mom came to visit, Tim and I watched lots of Friends (to keep my oxytocin up!) and we skyped with Eli to pass the time. Our doula arrived around dinner time, just before hard labor hit. Tim has a thing for even numbers, and were were both born on the 20th of our birth month. I remember a few things from right before Henry was born:
1. It was 11:38 PM when I started to push and I wanted him out so quickly so he could be born on the 20th, like Tim and I. He was born at 11:43 PM.
2. Before pushing, I looked up and saw the TV on in our room. Born This Way was on, and I had a clear view of Megan, a woman with Down syndrome on the show. I was mere minutes away from unknowingly bringing an individual with Down syndrome into the world. It was like a sign. I was in a Pitocin haze, I had no epidural, and somehow managed to see the TV and my brain registered what I was seeing. In a weird way, I felt comforted seeing her face.
Henry was born and he looked, well, different. He didn't look like Eli. I chalked it up to him coming out so quickly and maybe being a little swollen. One of his eyes didn't look right to me. I noticed something in his mouth -- a tooth! I held him on my chest and he immediately nursed. It was pure joy and elation. He was here safely.
After they did his APGAR, the wonderful nurses brought me a cheeseburger. I hadn't eaten in over a day. Everyone left us alone to sleep. It was around 1 AM. Henry was in his bassinet next to me. Tim had made all of the necessary phone calls to let everyone know Henry was here and had settled in on the couch to get some rest.
Around 2 AM, a doctor came in. She said, "We need to evaluate him for Down syndrome. He will need to go to the NICU now." She then left. I turned to Tim, who had just sat up on the couch. "Did you hear that?" I asked. He told me that he had heard her. My first thought was "There's no way he has Down syndrome, we had the MaterniT21 done." But then I sat up and looked at Henry and I started to see it. I said "Oh my God, he does have it, doesn't he?" Tim told me that he thought Henry had Ds, too.
We were brought down the hall to the NICU. They told us that babies with Down syndrome often have trouble breathing, and he needed to be evaluated. They then shooed us out of the NICU and told us to get some rest. I got out of bed two hours later, walked down to the NICU, and saw my baby. He was covered in cuts and bandaids from blood draws. Our pediatrician saw him a few days afterhe was born and was shocked at his bruises and cuts. "Boy, they really made a mess of you Henry, didnt they?", she said. In the NICU, they had pulled his tooth without telling us. A nurse handed it to me in a small medical container (which I still have!). They also had given him his first bath without letting us know. I was sad, overwhelmed, and tired -- I had no energy to advoate for my son like he deserved.
His grandparents came to visit him soon after. The nurses were spouting off information about the holes in his heart that they had found on an echo cardiogram while we were sleeping right in front of Tim's parents. All medical terms -- "ASD" and "VSD". I learned later that day that these acronyms are for different types of holes in Henry's heart -- an atrial septal defect (hole between the top two chambers) and a ventral septal defect (hole between the bottom two chambers), as well as another small hole in the top of his heart. The fetal echocardiogram had missed all three holes. I was half listening and half praying the nurse didn't slip any information out loud in front of my in laws that we hadn't shared with them yet. We hadn't told anyone about the Down syndrome, and we hadn't told anyone his name, either. I blurted out his name and the Down syndrome news to them because I was so afraid they would hear it from someone else. I always wish I had delivered the news to our families with more tact, but I was so exhausted and scared that I blurted it out, just like it was blurted out to me.
Henry in the NICU
The whole hospital experience is honestly just too traumatic to even talk about still, so I won't even go in to how terribly they delivered information to us and how poorly Henry was treated while there. The geneticists at Yale who did Henry's FISH study to examine each chromosome and confirm the diagnosis never even called to tell us that he did indeed have Down syndrome. One afternoon, when bringing Henry to the pediatrician for a weight check, she informed me that the FISH study came back and Henry did indeed have Down syndrome. I was not even with my husband when I got the news, and had to give him the information in our bedroom when he got home from work that night.
Our story is unfortunately not unique at all. Doctors have absolutely no idea how to compassionately deliver the Down syndrome news to families. That's why we love organizations like the Down Syndrome Diagnosis Network, which aims to educate health professionals on how to tell families in an appropriate way about the diagnosis.
I hope that clears up how we got here, and what a shock his diagnosis was. I also hope you will support anyone you know who is in the process of deciding what to do when faced with this diagnosis prenatally, or what someone may be going through having just received a birth diagnosis. Please reach out to me if you have any questions regarding our story, as I would be happy to answer whatever I can.