LAUSR

I was 36 years old and 14 weeks pregnant with our second child. I picked up my telephone just prior to the start of a Thursday afternoon clinic. It was a nurse from the obstetrics practice. “We have the results of your cellfree fetal DNA test. It’s trisomy 21...probably not what you were expecting to hear.” Time stopped and I froze; I swallowed hard and tried to remain calm. “Do you want to know if you are having a boy or girl? It’s a girl.” The weight of the news hit me, and I quickly ended the call and left the clinic. I called my husband, who was on the way to his shift in the emergency department. He found a replacement for his shift and turned the car around. We went to a local coffee shop to talk to avoid upsetting our 16-month-old daughter. We knew getting the aneuploidy screening was important to us. We also knew we could never terminate this pregnancy. The questions now were how to move forward and how to process this knowledge. We learned from our obstetrician that the cell-free fetal DNA aneuploidy screen was 99% sensitive and specific for trisomy 21 syndrome. We decided that getting an amniocentesis for additional confirmation was not necessary and not worth the risk. We also decided to immediately share our news with family, close friends, and work colleagues. That was the best decision we made that day; the support was overwhelming. But the grieving process was still intense. I found a quote on a Down syndrome website that advised parents to “allow yourself to grieve for the child you thought you were going to have” (http://www.ndsccenter.org /wp-content/uploads/Light-Tunnel-all-LR.pdf). That is exactly how I felt. I simply did not want this new reality to be true, and I was deeply and profoundly sad. I thought about all the possible implications of her diagnosis and grieved for each one. Would she be able to hear? To talk? Would other children make fun of her? Would she ever be able to live independently? To get married? The crucial second part of the website’s advice was “after you grieve, try to find joy in this new reality” (http: //www.ndsccenter.org/wp-content/uploads/Light-Tunnelall-LR.pdf). To me, that meant finding the right people and resources to help me prepare for my daughter’s birth. I contacted an agency for families of children with disabilities. They introduced me to a local mom who had a 3-year-old son with trisomy 21 syndrome. We met for lunch, and I asked her how she has dealt with the difficulties of raising a child with trisomy 21. She paused for a second; then she said, “Honestly, I don’t really think about that a lot. To me, he’s just a 3-year-old boy, and that defines him more than his Down syndrome.” She spoke of how there had been more joys than difficulties. Her son made her extended family closer and brought out the best in everyone. He was reaching his developmental milestones at his own pace. While she had high expectations for him, the exacttimelineofeachmilestonewasnotcriticaltoher.This was a helpful reminder. Trisomy 21 syndrome aside, every child follows an individual developmental path. Becoming too focused on a rigid timeline can have negative consequences. I did not want to miss out on the excitement I saw in this mother when she talked about her son learning to walk. We also had the opportunity to learn more about the health of our daughter. Approximately half of children with trisomy 21 syndrome have congenital heart disease that is not always detected on routine obstetric ultrasonography. We were able to have several dedicated fetal echocardiograms and meet with a pediatric cardiologist. We learned that our daughter may be born with a partial atrioventricular septal defect but, thankfully, nothing that was going to require cardiothoracic surgery after birth. We were able to plan our delivery locally instead of having to travel across the state to deliver at a hospital with a pediatric cardiothoracic surgeon. Stephanie Glenn Davis was born via cesarean delivery at 36 weeks and weighed 4 lbs 11 oz. She was perfectly healthy and beautiful. She required no interventions after birth and no stay in the neonatal intensive care unit. Her postdelivery echocardiogram showed a normal heart. We left the hospital 3 days later. I had found peace months ago with her diagnosis; now, with her birth, I finally felt pure joy and relief. Some argue against prenatal aneuploidy screening if it is not going to change your plans to continue the pregnancy. I remembered that from my medical training as we learned how to counsel patients on the quad screen test. However,timeshavechanged,withbetternoninvasivetestingthathasverylowfalse-positiverates.Havingtheknowledge of Stephanie’s diagnosis at 14 weeks was a huge benefitforus. Itallowedustoworkthroughthegriefbeforeher arrival, connect with local resources, plan for her delivery locally, and establish a fantastic support network. Instead of being overwhelmed with the news in the postpartum period, we were able to enjoy our beautiful baby girl. Stephanie will soon celebrate her first birthday and is happy and healthy. When she mastered rolling over at 8 months, we were thrilled. My husband recently asked, “Do you have any sadness when you think about Stephanie?” My answer was truthfully, “None at all.” I felt nothing but joy when she was born, and the peace has continued. I think back often to what that mother said to me over lunch about her 3-year-old son. She was absolutely right. Stephanie has trisomy 21 syndrome, but to us she is simply our sweet little baby girl.