Continuing a Down Syndrome Pregnancy- the Joy that Follows

A prenatal diagnosis of Down Syndrome can be a very hard thing to hear.  For some women, the previously unthinkable crosses their minds, the worry sets in.  Maura shares her story of how she moved from fear and uncertainty about continuing a Down Syndrome pregnancy, to the joy she now feels when she looks at her son.

If you are reading this and have just received a prenatal diagnosis, welcome to the most wonderful community.  I never expected to be part of this community, but I am eternally grateful for it.  My name is Maura. My husband, Ahmet and I were both so thrilled when I took that positive pregnancy test. We had waited to have children because I had been diagnosed with a rare genetic neurologic disease and it took some time for us to process that emotionally and figure out what it meant for our future. When I became pregnant, I had just turned 36. We live in Nashua, NH but had opted to do my prenatal care with a maternal fetal medicine practice in Boston, MA due to my neurological disease.

Ahmet accompanied me to 12-week ultrasound. We were so excited to see our baby. We had already planned on meeting with a genetic counselor. Due to my age, we had been encouraged to undergo the prenatal screenings. During the ultrasound, we were told that our baby’s nuchal translucency (NT) was just above the normal range. Ahmet had no idea what that meant, but I did and just started crying. He couldn’t understand why I was so upset until I explained to him that there was a chance our baby had Down syndrome. Everyone assured us that the NT was just slightly above the normal range and everything was most likely just fine. We met with the genetic counselor, my OB and gave blood for the screening.  I just went through the motions, I was numb with fear. My husband, the eternal optimist, so it seemed, didn’t even give it a second thought. I spent days waiting for the blood test results googling, trying to find the posts on message boards that would tell me that my baby was going to be just fine.

The day I got the phone call from the genetic counselor, I was finishing up my day at work and had just missed her call. I couldn’t even wait until I got home, I called her right then and there. She reported that the test came back with an 89 percent chance of Down syndrome. She asked me if I wanted to know the sex of the baby and I said no. I didn’t want to know anything that would make this baby feel like a human being. I called Ahmet and told him the news and asked him to come home from work. He found me in bed crying. This wasn’t what I wanted, we hadn’t signed up for this. I didn’t want this baby. Both my husband and I follow religious beliefs that do not support termination, but in that moment I didn’t care. I said to him “I’m not keeping this baby, you can divorce me if you want to but you can’t make me keep it.” He told me that he would support whatever decision I made. I had made up my mind. We would tell those that already knew, that I had a miscarriage and that would be that.

Ahmet is an engineer, a numbers guy. He operates on facts and research. Neither of us had any experience with Down syndrome. Anything I knew about Down syndrome was a stereotype. Ahmet gave me the space I needed and came back a while later, he had been researching. He looked me in the eye and said “I’m not scared of Down syndrome. We can do this, but there is still an eleven percent chance it isn’t Down syndrome.”

I was so afraid of what people would say. What would my siblings say. Would people judge me? I felt guilty. While logically I knew I had done nothing to cause this, it felt like it was my fault. I hesitantly told my immediate family what was going on and they were all very supportive but they too were clinging to that eleven percent chance that everything was just fine.

We decided to move forward with the pregnancy but opted to do a chorionic villus sampling test (CVS). I just had to know for sure. The risk for miscarriage is higher than the later testing via amniocentesis but I was confident that whatever was meant to happen would happen.

The CVS was performed at 15 weeks. With Ahmet by my side, holding on to the eleven percent chance that the test would come back negative for Down syndrome.  Although I knew in my heart of hearts that my baby had Down syndrome, I was terrified. Terrified of the pain that would accompany the procedure, terrified of the result, terrified of losing my baby. When I got the call from the genetic counselor letting me know that our son did indeed have trisomy 21, I wasn’t surprised, I didn’t even cry because I knew.

I decided in that moment I needed to know the sex of the baby and called the genetic counselor back to find out. Call it motherly instinct, call it a hunch but I knew it was a boy. The moment she confirmed what I knew I cried tears of joy.

The days and months following the CVS results were a roller coaster of emotions. We made appointments to meet with the Down Syndrome Program at Boston Children’s hospital and to have a fetal echocardiogram. I had been given information about the Massachusetts Down syndrome Congress First Call program. I picked up that pamphlet every day, trying to get up the courage to call. The day I called and spoke to the coordinator, Sarah, I was confident today was the day I wouldn’t cry. I introduced myself and the moment I said my son has Down syndrome, I lost it. Sarah was so patient and companionate. She shared with me that her middle son has Down syndrome. I was so relieved to hear that and I told her so much. Up until that point I had wondered how I could possibly have another child after this. Ahmet and I had always wanted multiple children and I felt like that wouldn’t be an option, until that day.

The first call program sets new and expecting parents up with another family who has a child with Down syndrome. This was so helpful because I had a million questions that I felt like I couldn’t ask or shouldn’t ask. I was able to safely ask those questions and feel confident that my new friend knew where I was coming from and I didn’t have to be embarrassed.

I began telling family and friends about our little boy’s diagnosis. I shared the news, mostly through text messages because honestly, I couldn’t bear the sympathy, questions, and comments that were meant to encouraging. “I’m so sorry. Maybe the test is wrong. He will be so happy. Only special people have special children. I can’t think of anyone better to have a child with Down syndrome. How bad will it be?”

I spent my free time googling things like babies with Down syndrome, wondering what my baby would look like. Would I think he was cute? Would I be able to see past the Down syndrome? I mourned the baby that I thought I was supposed to have and some days felt resentful that this was what I was given. It wasn’t until my sixth month of pregnancy that I truly felt happy about being pregnant once again. I knew in my mind that I would love my baby, but it took my heart a little longer to catch up.

From a health standpoint, my pregnancy was pretty uneventful until week 37. I felt a drastic decrease in movement and was induced and ultimately had a c-section. William was born on November 19, 2016 and spent three days in the NICU. At three months old he had open heart surgery to repair two holes in his heart.

Today Will is a thriving 7-month-old. He is motivated to meet milestones on his own timeline. Each time we hear a new sound or see a new skill, our hearts fill with pride. He’s enjoying trying new foods and getting messy doing it.

I am grateful to have received a prenatal diagnosis. It provided us space and time to mourn what we thought we might have and the opportunity to educate ourselves about the most exciting adventure of our lives.

Maura is a stay at home mom.  She lives in Nashua, NH with her husband of 7 years, Ahmet, son, William and rabbit, Bess. Maura and Ahmet are enjoying life as new parents and connecting with the Down syndrome communities in both New Hampshire and Massachusetts. In their spare time they enjoy traveling and are looking forward to seeing the world through William’s eyes.  Follow along on instagram @mabe214