A Diagnosis of HOPE

You’re never alone with Mercy Fetal Care by your side. 

“Your baby’s genetic testing shows a high chance of Trisomy 21…”

“What exactly is Trisomy 21? Did I do something to cause this? What does this mean?”

I’m one of many who have received a diagnosis of a genetic abnormality. It can be scary to hear those words. I want to share what this process was like for us five years ago, with Mercy by our side the entire way.

When I went in to talk to my OB about my struggle with depression during my second pregnancy, I wasn’t expecting to hear this news as well (when it rains, it pours). It felt like an out-of-body experience, like I was watching myself on a screen as I swirled in shock, confusion, and fear. Now what?

Dr. Menges let me know that this positive MaterniT 21 screening for Down syndrome was not 100% accurate. Not one of her patients who had received a positive genetic screening result went on to have a child with Down syndrome. Maybe to some people, this would’ve been a comfort. For me? I knew that we would be the one. It was just a feeling I had. 

There were now two options. We could schedule an amniocentesis, where they would extract some of the amniotic fluid to evaluate, giving us a more accurate diagnosis. The other option was to wait it out and see what happens, watching for markers to show up on ultrasounds and after the birth.

Choosing to get genetic testing had nothing to do with making a decision to keep our baby – that was never on the table for us. We wanted to know so that we could take the proper precautions leading up to and directly after the birth. After reading more about Down syndrome, we knew that there would be higher risks for health challenges, including heart defects that may require surgery, so we decided to get the amnio for more diagnostic information.

Dr. Menges got us plugged in with the Mercy fetal care team (I had no idea this team even existed).

Not only were we not alone, but we had a whole team there just for us:

 

• a genetic counselor to talk in-depth about our genetics and likelihood of our child having Down syndrome (which was high).
• our nurse coordinator, Karen Graham, to help with questions, additional scheduling, and to be there with us for every appointment as another set of ears.
• Dr. James Bartelsmeyer as our MFM Physician to continue with for the remainder of our pregnancy.
• our pediatric cardiologist Dr. Dharam Goel to follow our baby and be on the lookout for any heart defects that we should be aware of and prepared for.

Knowing what I do now, I can look back and appreciate more fully the way each and every member of the Mercy team responded to our sensitive situation. We did not have a negative diagnosis experience as, sadly, so many families do. Our team did not assume doom and gloom, that this diagnosis would disrupt our lives in a negative way, nor that we would want to terminate our pregnancy.

For us, it was the exact opposite. 

 

From our OB to every single member of the fetal care team that walked alongside us on this journey, we were reassured time and time again that if our child did indeed have Down syndrome, he or she could have a full, productive life, would have value and bring joy to our lives no matter what. They acknowledged that many people with Down syndrome could potentially live on their own, get jobs, and have families. No promises, of course, but HOPE was communicated. Hope for possibilities in a world where there are so many things in place for individuals with Down syndrome and other disabilities, helping them be more successful and have longer life expectancies.

After our amniocentesis three days later, in a room full of doctors, nurses, and trainees, we received a diagnosis. Those days were the hardest part of the whole process – the waiting, wondering, worrying, and not knowing how to commit our feelings or focus our energy. We wanted to know so that we could either not stress about it and move forward, or to start the process of accepting this diagnosis, learning everything that we could to be prepared for this child, and simply have an answer.

That call from our genetic counselor confirmed what something within me felt like it knew all along – three copies of the 21st chromosome were present.

Our child would be born with Down syndrome.

 

She reassured us that everything was going to be more than OK, that this child would be loved, would be a valued member of society, and would have a good life.

I breathed a sigh of relief as I looked knowingly at my husband. This is not something we would have wanted nor expected. (These things happen to other people, not us …). But the truth of the matter is that genetic differences occur often, and we were going to give this child everything that we could. (Little did we know that we would learn so much along the way!)

Was there still some fear? Absolutely. It was unknown territory for us. What was certain was that we knew how to love and take care of our baby, we would be committed to learning how to do what’s best for him, and we would never stop advocating. My husband and I had each other, an incredibly supportive network of close family and friends, the Down Syndrome Association of Greater St. Louis,

and now we also had the Mercy fetal care team walking us through what was one of the most tender times in our lives.

 

What started with me sitting on the couch of my OB‘s office, pouring out to her in tears, ended with my OB sitting next to me in my hospital bed after delivering my son with Down syndrome. We were both in tears after walking this emotional journey together. She hugged me and kissed Harrison’s forehead. It was a heartfelt, joyous, full-circle moment I’ll never forget. Thank you to Dr. Christi Menges and the Mercy Fetal Care Team for taking such great care of our family and being a voice of HOPE!