One of the questions we most often get after sharing that Meredith has Down syndrome is, "Did you know?" The short answer is, "No, but we weren't surprised." Here's why...
Lots of Photos
The first appointment that is scheduled for an expectant couple at our practitioner's office is simply a counseling and education session. So, when I was about 10 weeks pregnant we had our first appointment with a midwife educator. She was very friendly and met with us for an unprecedented 2 hours, explaining what to expect from the remainder of the first trimester, making suggestions for healthy foods to eat, and taking a family history. After going through the family history, and repeatedly answering, "No, no history of any genetic abnormalities that we're aware of. So and so is very healthy." she shared with us some screening tests that are routinely available, if we were interested. We elected to do a quad-screening test, including a nuchal translucency test which would give us the opportunity to have an ultra-sound and see our baby at 12 weeks.
The ultrasound was very cool--there is nothing like seeing your baby when he or she is 2 inches long! You think, alternately, she's so big! and then, she's so little! However, as the ultrasound tech took measurements of various parts of the body, and I asked, over and over again, "Is that normal?" she revealed that the measurement of a little tiny space on the back of Meredith's neck was on the "high average" size. She assured us that it was probably nothing, but we would have to wait for the blood work that is also a part of the quad screen to come back to know more.
Fast forward about a week and a half to me, leaving work early one day for some reason, and listening to a voicemail asking me to call the office to discuss the results. As I'm making the (very short--thank goodness) drive home from school, the midwife shares that my blood work also came back abnormally. There is an increased chance of my baby having Down syndrome...how much, she doesn't know because she doesn't have the chart in front of her. She shares that they will be setting up an appointment for us at UVA for some prenatal genetic counseling.
Less than a week later, we drove to Charlottesville and met with a genetic counselor there who shared the numbers. Based primarily on the blood work that has been done, we have a 1 in 33 chance of having a baby with Down syndrome. They conducted another ultrasound that revealed basically nothing and one of the doctors there explained our options. At this point we were in a window where we were too late to have a CVS (chorionic villa sampling) and too early to have an amniocentesis...but we could come back in a week or so to have an amnio done, if we'd like. The doctor said that without these tests, we won't really know anything until the baby is born, however, there is a slightly increased risk of miscarriage with an amnio. He counseled us to think about how we would feel if there was a miscarriage and the baby didn't have Down syndrome, versus what we feel we would gain by knowing, for sure, either way, and how we would feel if there were to be a miscarriage but the baby did have Down syndrome. The testing that we have begun is compared to an escalator, and we are told that people generally don't get off the escalator here. They want to know one way or the other.
All of this was shared in a way that is supposed to make the space safe and comfortable for you to make decisions about your family, but really it just made Greg want to punch the doctor. We told the doctor that the outcome of the testing wouldn't make us change our mind about continuing the pregnancy and "got off the escalator." We did not finish the blood work several weeks later that would complete the quad screen and, although we shared this experience, afterward, with some of our immediate family, we tried to go about enjoying the rest of our pregnancy.
The plan went well until the 20 week ultrasound, which is fairly standard for all pregnancies. It was a cold, snowy evening, and we were the very last appointment of the day. This was when we discovered, without a doubt, that the baby (gender still unknown) was going to be stubborn! What was supposed to be a fairly quick check turned into an hour-long affair, trying to get the baby to turn the right way so the tech could see what she needed to see. What she found in the process though was a small calcium deposit in the heart.
There are many "soft-markers" of Down syndrome which can be seen through ultrasound. On their own, these characteristics mean very little, but when they start to combine, they point to an increased risk of DS--though nothing can be known for sure without an amnio. The increased neck measurement we had in our initial ultrasound is one such marker. A few others include short limbs, a small head, and a short or lacking nasal bone, none of which had been seen before. Heart problems however, including calcium deposits, are another.
This is scary. What does it mean to have a baby born with a disability? More than just Down syndrome, what do we do if our baby has heart problems? Will he or she survive? And how does either situation affect your marriage? Your family? Your plans for the future?
At this point, though, it was the middle of December and we would be celebrating the holidays with family and friends in just a few short weeks. Everyone was super excited about the baby--the first grandchild on both sides--and one of the first among our circles of friends--so we shared this information with only our parents, until we had a follow up appointment to see if the calcium deposit disappears on its own or stays.
A follow up appointment at our local doctor's office in January showed that the deposit was still there, so we went back to UVA. The ultrasound tech there said she could sort-of see the deposit but wasn't concerned about how the heart was functioning, so we were cleared to still have the baby at our home hospital, rather than there where they have a NICU. That was our primary concern at that visit. A genetics doctor met with us again, but said that the ultrasound appeared fairly normal and not to worry too much about the Down syndrome.
So, we didn't.
We enjoyed the rest of the pregnancy--the movements of the baby, hiccups, showers, all the celebrations of the new little life that would be joining us soon. We hesitated to share any of our ordeal with people because we didn't want to take away any of that joy...from ourselves or others. And besides, the doctor said not to worry.
I don't think I thought about the possibility of having a baby with Down syndrome for more than 10 seconds until I checked into the hospital, and even then, it was only to answer the nurse's questions about how the pregnancy had been. "It was fine. We had an abnormal nuchal translucency test and a calcium deposit was spotted in the heart, but they said not to worry. It was an easy pregnancy."
My labor was awesome--great--I know you don't hear that a lot, but it really was. I checked into the hospital at 6:00 and walked around the maternity ward for a while. As the labor progressed, I was officially admitted and things got stronger. I had an epidural around 10:00 and slept until 1, maybe. When I woke up, it was time to push, and Meredith Renee was born at 2:28 a.m. on April 12. She was healthy, beautiful and had a head full of hair! I remember unwrapping her from her blankets at one point and checking her hands for creases...she had some (I really didn't know what exactly I was looking for) and I thought, "Ok, she's fine."
The nurses transferred us to a recovery room where Greg slept on a "couch" by the window and Mer slept in a basinet in between us. Our pediatrician was supposed to come give her an official exam in the morning.
In the morning, the nurses took Mer from the room for a while, but returned her when our doctor didn't come in. It's ok, they said. He had to go right to the office this morning, but would stop by in the afternoon. We had visitors throughout the day and loved bonding with our baby and showing her off to friends and family. Around 7 that evening, the nurses took Mer again for her exam and shortly after the doctor brought her to the room. He was friendly, talking about how beautiful she was and asking about the delivery. He then asked about the pregnancy and we shared our scares with concerns about her heart and Down syndrome. He said he thought her heart was fine...he couldn't hear anything wrong with it, which was great, however, he thought, based on her slightly lower ears, her slanted eyes, the flat bridge of her nose, her slightly low muscle tone, and the long crease extending all the way across her hand, that she probably did have Down syndrome.
I think that Greg and I held it together long enough to ask a few questions along the lines of "Is she healthy though?" and "What do we need to do for her?" but as soon as the doctor left the room, we held each other and cried.
Facing the Future
It's funny how during the pregnancy my concerns were primarily about us. I worried about this might affect us. However, it is a miracle how quickly your focus changes once you really become a mom. Yes, I was scared and I was upset, but now my concerns were about our daughter. I kept repeating, she is healthy and loved and that is what matters. (And we are so lucky that Mer is so healthy--she came home from the hospital with us the next day. Many babies with Down syndrome stay in the hospital much longer.)
But I worried and I still do: What will her life be like? Will she be happy? Will she make friends? Graduate from school? Have a job she finds rewarding? Buy a car and a house? Fall in love and have children?
These are things I enjoy and value about my life and yet, I have taken them fore-granted. But this is my challenge. How do I help my daughter realize as many of these joys for herself as she can? Which of these are really important for happiness? And how do I help her cope if some of these dreams do not come true?