Today, March 21 (3/21) is World Down Syndrome Day. The 21st day of the third month was chosen to represent the third copy of the 21st chromosome, which causes Trisomy 21, also known as Down syndrome. This year, our family is acknowledging and celebrating WDSD for one very important, if albeit still very tiny, reason: Our unborn son. Our precious boy is “extra” special because he possesses that extra chromosome. He has Down syndrome.
Here, on this day, Greg and I wanted to share the story of our son’s diagnosis. We’ve felt a lot of emotions and learned a lot of information over the past nine weeks… Our journey has just begun and there are still many unknowns but we have come to a point where we have accepted the diagnosis and we’re ready to let our broader community in, to join us on this journey. Down syndrome is nothing we ever envisioned for our child but we already know and believe that he is not simply this diagnosis. He is and will be so much more. We’re sure he will surprise us with all that he is and all that he can do — just like Delilah — and we will love him and advocate for him and cheer him on every step of the way — just as we have for his big sister. We are anxious, of course, for what we don’t know and what health and developmental issues he may face, but above all the fears and worry (that always accompany any journey through parenthood!) is an overwhelming gratitude for his life and an excitement to meet our son.
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On the morning of Jan. 15, at 12 weeks pregnant, I had a routine ultrasound called a Nuchal Translucency (NT) scan to measure the thickness of the fluid buildup at the base of the baby’s neck. If this area is thicker than normal, it can signal a chromosomal issue, but the measurement was well within the normal range. Baby looked good. With this scan checked off the pregnancy to-do list, Greg went on to work and Delilah and I headed toward home. On the way, I stopped by my local LabCorp to complete the blood draw portion of this first trimester screening. After that poke, I honestly didn’t think any more about it. When I was pregnant with Delilah, her nuchal fold measurement also came back normal and the blood work showed nothing amiss, so it was easy to assume that would be the case again.
So the news that came next was a surprise, to say the least.
That Friday, Jan. 18 (at exactly 13 weeks pregnant), I got a call from my obstetrician that the results of my first trimester screen, the blood work portion, came back abnormal, with an elevated risk for Down syndrome.
Greg was off work that day but had gone out for a bit; I immediately texted him that the OB had called with the results of my blood test. I didn’t want to tell him over the phone and instead asked him to come home as soon as he could.
I was in a state of shock while talking to my doctor and I focused on writing down and trying to absorb the information.
1 in 25.
That was our risk according to my blood (and based on my age at the time of my egg retrieval, not my actual age, because then the risk would be higher). 1:25 chance that our baby has Down syndrome. Which doesn’t sound like great odds until you put some spin on it and say instead “4 percent chance” of DS. Or, even better, a 96 percent chance that he does not. Those figures seemed to leave more room for hope.
I didn’t get emotional and remained strangely calm on the phone with the OB, and even later when I relayed the results to Greg. The news and its implications hadn’t fully hit me yet and I think I was trying to stay positive that the blood test was simply a false positive and nothing more. Greg was a bit more taken aback but after talking it through he also was optimistic, as he usually is.
My OB quickly reviewed three options for further testing with me. (The stats are what my doctor quoted me.)
1. CVS (chorionic villus sampling), a biopsy of the placenta, but this had to happen before 14 weeks, so I didn’t have much time if I decided to go this route. The CVS procedure has a 1 in 350 loss rate.
2. Amniocentesis, which takes a sample of amniotic fluid that contains cells from the baby. This procedure could be performed later on in pregnancy and carries with it a 1 in 1000 loss rate.
3. NIPT, or noninvasive prenatal testing, another blood test, but a much more accurate blood test than what I previously had as it analyzes the fetal DNA that the placenta sheds into my bloodstream
The first two options are diagnostic procedures that would tell us with certainty if the baby has Down syndrome while the blood test is a screening — an incredibly accurate screening, but a screening nonetheless, meaning the result that comes back could be wrong (a false positive or a false negative).
My OB instructed me to call the perinatal imaging center (where I have my ultrasounds done) to schedule an appointment with the genetic counselor, who would further discuss my results and options.
Fortunately we had plans that very evening for a play date and dinner with another couple and their baby so we were able to get out of the house and get our minds off that 1:25.
We met with the genetic counselor almost a week later, on Jan. 24. Just as my obstetrician had, the geneticist encouraged us to pursue confirmation via CVS or amnio. And I told her no, just as I had told my OB.
We knew we didn’t want to put our baby at risk, no matter how slim the chance of miscarriage, just to get a definitive determination. Down syndrome or not, we knew we wouldn’t terminate the pregnancy. We would never abort our baby. So to us, performing a CVS or amnio just for confirmation seemed selfish. Deciding on what kind of prenatal testing to pursue is a highly personal decision and I believe there are good reasons to have a CVS or amnio. But for us in this particular situation, it just didn’t feel like the right call.
After we told the genetic counselor our position, she agreed that if the result didn’t matter to us either way, if we planned to continue with the pregnancy regardless, then it wasn’t necessary to do. But she also let me know that if I changed my mind, I still had time. She gave me a lab slip for the NIPT and we were on our way.
Just as before, I made a blood draw pit stop on the way home from the appointment because it was a Thursday and I was hopeful that we could get the results by the end of the next week if I acted quickly enough. Unfortunately, the bad weather across the country at that time thwarted those plans. My sample didn’t reach the lab in time to be processed, but I didn’t receive notification of that until more than a week later, on Feb. 1, when LabCorp called me about the “error in transit” and asked me if I could come back in for a redraw. Fuming, I did so, basically as soon as I got off the phone.
It took another week to get the results, and they weren’t what we were hoping.
Even though I expected to get the results from the genetic counselor, it was my OB who called me first, on Feb. 8. I was exactly 16 weeks pregnant. I was actually just leaving a neighbor’s house after an impromptu play date when my phone rang. I answered it and my OB asked if I had a few minutes to talk. Something in her voice already told me what she was going to say, so I asked if she could call back in a little while since I was just on my way home and I wasn’t with Greg. My stomach was instantly in knots and I suddenly felt very emotional. Thankfully it wasn’t too long before the OB called again.
She didn’t have (or didn’t give me) the full details, only saying that the NIPT came back positive for Down syndrome and she recommended scheduling an early anatomy scan to look for soft markers that indicate Down syndrome and any potential issues with the heart and stomach, since these are areas where problems tend to arise with DS. The genetic counselor called me later that same day and she had more information: a 74% chance that the positive was a true positive. She recommended a fetal echocardiogram between 20-22 weeks since about 50% of babies with Down syndrome have a heart defect. All of this news gave me an instant headache that just wouldn’t quit; it was a lot to take in. Fortunately, Delilah is the best distraction and keeps us from dwelling too much for too long.
After the weekend, on Monday morning, the genetic counselor called again with updated information. Somehow I knew it wouldn’t be that they got the results wrong! I was in the car on my way to a regularly scheduled OB appointment when she let me know that when calculating the results of my two blood tests together — the first initial screening as part of the NT scan and the second, more accurate NIPT test — the chance that the positive was a true positive jumped from 74 to 98 percent.
You’d think that number would have made me feel worse but it didn’t. I almost laughed! Because by that point Greg and I both felt and had accepted that this is happening. Our baby has Down syndrome. In a way it was helpful to have that almost 100 percent confirmation of something that we in our hearts knew was true already, if that makes sense. I think if we were left with the idea that there was a 26 percent chance that our baby doesn’t have Down syndrome, that might have been a difficult mind game to play the rest of my pregnancy.
As before, the genetic counselor stressed that a definitive diagnosis wouldn’t be possible without doing an amnio but again I declined.
I had my 16-week anatomy scan on Feb. 13 and, as usual, the technician doesn’t really tell you what they are seeing during the ultrasound. You have to wait for the doctor to come in once the sonographer is done capturing all the necessary images and measurements. But I already knew. I don’t have a medical background. I hadn’t done any specific research or looked at sonogram images prior to the appointment. But somehow I just knew. Maybe I remembered what Delilah’s heart looked like in her ultrasound pictures? I don’t know. But I could see it. Our baby’s heart just didn’t look normal to me. The four chambers looked too open, or broken. I didn’t have the right terminology yet. It took awhile for the doctor to come in after the sonographer left, which also gave me a hint that maybe they needed more time to examine the images thoroughly. Finally, the doctor came and took a look herself with the doppler. She tried to break the news gently.
“I do have some concerns," she said, as she touched my arm. I was still laying on the exam table. "I have some concerns about the baby’s heart.”
She said it appeared that the baby had a hole in its heart, and she thought there might be bigger issues at play, with the way the blood was moving in and out, but she couldn’t tell because, well, firstly, she isn’t a cardiologist, and second, I was only 16 weeks. The baby was still very small. So she recommended that we do a fetal echo ASAP instead of waiting until 20-22 weeks to get a more detailed look at the heart.
The doctor also saw two soft markers for DS during the ultrasound: the baby’s nasal bone was “not very strong,” or prominent, and the baby’s fifth digit (pinky finger) was curved. Obviously these issues pale in comparison to the heart defect but they serve as visual evidence of what we already had accepted to be true.
When we left the ultrasound room and made our way to the front to book follow-up appointments, I started to feel the weight of the diagnosis. If that 98 percent wasn’t good enough, it was crystal clear now: Our baby has Down syndrome. Not only that, but a heart defect. With all the information racing through my mind, all the emotions bubbling up in my chest, I picked up Delilah, my healthy daughter, and hugged her tight. Tears welled in my eyes and a single drop slid down my cheek. I then quickly wiped it away when the receptionist called me up to the counter.
For good or for bad, Greg and I weren’t even able to talk about all that we had just learned until much later that day because immediately following the appointment we had to make our way, on rainy roads, to Alameda for Greg’s reenlistment ceremony that same morning. Talk about slapping on a smile and pretending like everything is OK. At least Greg was able to enjoy a beer at the event. He told me later he needed it. I understood. I could have gone for a drink right about then, too.
Thankfully, we were able to schedule an echo for just two days later, on Friday, Feb. 15. One “perk” of the NIPT is that the test will tell you the baby’s gender. But with everything going on, we hadn’t wanted to know just yet. We wanted to be able to celebrate that news, to some extent, even if just privately. I asked my OB’s office to write it on a card and place it in an envelope, which ended up sitting unopened for four days. Finally, I told Greg we needed to open it before our appointment with the pediatric cardiologist, so we would know if we were looking at our son or daughter’s heart. So we did, and happily learned that baby is a boy.
At our first echocardiogram we discovered that our son has an atrioventricular (AV) canal, also called an atrial ventricular septal defect. In layman’s terms, it is a large hole in the center of his heart that will require open heart surgery after birth, most likely around 3 or 4 months old. We have a followup echo today to hopefully get an even better look at the structures of his heart now that I am 21 (almost 22) weeks pregnant. I will share more about our son’s heart defect another time.
So that’s where we are at. This is the journey we are on and the story will just keep unfolding. We don’t feel prepared although we are doing our best to prepare. We feel lucky to have a prenatal diagnosis that affords us the time to research and learn before baby boy arrives. But mostly we are trusting in God and praying for His strength and guidance. We are of course endlessly grateful for those of you who love and care for us, who are interested in following along with us (if you read all this you are a champ!) and offering your support. They say it takes a village and we may find that even truer than ever before. So wherever you are, near or far, thank you for being “here” with us. It feels good to share; it didn’t feel good to keep this “secret” as we are not ashamed. Our boy has Down syndrome but — as we have been assured by those who have gone before us — we are “the lucky few” and there is nothing down about it.
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*Omne Trium Perfectum: everything that comes in threes is perfect
