February 10th, 2015 is a day I won’t ever forget. I remember where I was and what I was doing, even if I don’t remember the exact words the genetic counselor said past “I’m sorry, I didn’t prepare you for this, the test was positive, it looks like she has Down syndrome.” I froze in that moment as it was completely unexpected.
I ended up on the other end of that phone call by a bit of a circuitous route. After declining genetic testing initially, our daughter had a few soft markers on her 20-week ultrasound that led us there. The genetic counselor recommended a new blood test screening as opposed to an invasive amniocentesis. Throughout those appointments, our midwife team and the genetic counselor assured us this was just a precaution, and that the chances of it being anything were low – 1 in 140.
The genetic counselor had attempted to schedule a time to call us and give us the results, but between mine and my husband’s work schedules and caring for our 3 year old, I didn’t have a great time to offer her. Everyone had assured us this was just a precaution, so it didn’t matter when they called us I thought. As a result, when I took the call I was alone in a coffee shop. If I could change anything about that moment, it would be to have listened to her advice and scheduled a time.
After I unfroze and got off the phone, I went home I went to Google. Through that, I ended up on various message boards which were both scary and disheartening. The most helpful thing that Google did was lead me to other parents who were either in my same place or slightly ahead of me. When you are pregnant, you have dreams for your child, even if they aren’t fully defined. A prenatal diagnosis shifts all those dreams. Not everyone does, but I ended up mourning the loss of those dreams and the family life I had imagined for us.
I found it very helpful to talk through and get answers for my questions from other parents as I started to build a new vision of what our life could be like. In the days following the positive screening results, I connected with Flower City Down Syndrome Network, here in Rochester. They matched me with a local parent who had a 4-year-old son who I could ask all the embarrassing questions I had about what it was actually like to be the parent of a child with Down syndrome. I also connected online with the national organization the Down Syndrome Diagnosis Network, who was able to match me into an online support group full of other pregnant moms who had a positive diagnosis for Down syndrome.
One unexpected hard thing was being around other friends and family who were pregnant. Instead of having the bonding experience I had expected, I ended up feeling isolated and occasionally jealous of their “normal pregnancies.” In my online support group through DSDN, my pregnancy was normal again, which was a massive place of support for me. While we told our family and close friends early in the process, we chose not to tell our wider community until later and those moms helped walk me through that process.
We did end up meeting in person with the genetic counselor a few days after the phone call. She gave us resources in the form of books and pamphlets, but for me, I had already found most of what I was looking for online. I wish she had given us some of those resources ahead of time, so that when we got the phone call, I had something to reference. If I knew then what I know now I would have asked for some resources about the diagnosis they were testing for so I was more prepared.
The genetic counselor was able to connect us with a local developmental pediatrician – someone who specializes in children with developmental disabilities. We were able to meet with him during the pregnancy, and he was able to talk through many of our fears about the possible medical complications of the diagnosis which was so helpful.
All of these connections and resources made it possible for us to prepare and process regarding our daughter’s diagnosis during the pregnancy, so when she arrived we were able to relax, enjoy her and celebrate. I remember telling all of the nurses, “We already know! So, everyone who comes in this room needs to know that – no surprises here just excitement.”
Our daughter is now a feisty independent 8-year-old. Like most eight-year olds, she loves Disney, music and dance and all things Barbie. Our life is not without challenges, but I can’t imagine our life any different way.
If you have received a prenatal diagnosis, I would encourage you to give yourself space to breathe and process all of the feelings you are having. We continue to be part of Flower City Down Syndrome Network here in Rochester as well as the Down Syndrome Diagnosis Network which have been great sources of support for us as we move through each stage and challenge. I would encourage you to find support, either locally or online (or both!), to help answer questions, normalize your experience, and help you find the next right thing for you in that moment.
