Honoring Agnes: A mother’s story

Narrative shared by ETB customer, friend, and mother of 5, Alexis

“Until I was pregnant with my daughter Agnes, I had never heard of trisomy 18, or as it is even less commonly known, Edwards syndrome. Most doctors refer to it as an “incompatible with life” diagnosis, which is both devastating and incorrect, because when doctors are giving this diagnosis, the baby is literally alive. There I was, Agnes in my belly, my little womb mate playing around, while being told that my daughter was incompatible with life. How could a baby, alive and kicking at that very moment, not be compatible with life? With this terrifying assertion, the first thing many doctors will encourage is to simply “terminate the pregnancy” which is a sterile way of speaking about abortion, and distraught mothers comply, coerced and scared, because they don’t dare question what is being told to them, and doctors themselves only see the syndrome one way, believing that abortion is the only solution to such a diagnosis. (This is statistically why a prenatal diagnosis of trisomy 18 usually ends in abortion or early infant death of the child, because there is such bias towards the pregnancy, whereas babies who do NOT receive a prenatal diagnosis but who are diagnosed post-delivery have a better chance at receiving proper medical intervention.) 

Since having had my daughter Agnes, I find that trisomy 18 only gets covered in the media when an abortion case is up for discussion. Without fail, I find that trisomy 18, wrongly labeled “incompatible with life,” is weaponized to provide justification for the act. The syndrome is only further burdened by wild misconceptions, and it reduces a special needs child’s chance of loving and equitable medical care, as if that weren’t difficult enough. After being told that my daughter likely had trisomy 18, I was encouraged to have an abortion. Despite repeatedly declining, it was clear that the doctors under whose “care” I was just assumed at some point I would give up. Ultrasounds were given to me in silence, with uncomfortable glances as the doppler moved around my belly. A specialist at a reputable hospital in North Jersey told me that though my daughter appeared to have a serious but seemingly fixable cardiac condition, most thoracic surgeons “wouldn’t bother operating on a baby like that.” A baby like “that,” it seems he meant, was one who might have special needs, who might experience the world in a different way. I was furious. I felt an anger and an anguish and yet a love so strong for my daughter that it lit a fire. I began to seek help. 

With the support of the Trisomy 18 Foundation and the Support Organization For Trisomy, I found that contrary to popular medical industry biased beliefs, there were actually many children, young adults, and adults, living and thriving with trisomy 18. I was so grateful to learn this. I began to understand that trisomy 18 was better seen as a syndrome with a spectrum. When there is an extra copy of chromosome 18, meaning that there are three pairs instead of the usual two, and all cells have this extra copy, it is called full trisomy 18. When only some cells in the body have this extra copy of chromosome 18, it is called mosaic trisomy 18. There may be certain commonalities to someone with Edwards syndrome: oftentimes there can be a cleft lip or palate, rocker bottom feet, heart or kidney issues, neurological developmental delays, and clenched fists. (The clenched fist with the pinky and thumb reaching for one another is a distinctive and beloved symbol within the trisomy 18 support community.) Their ears and eyelids may look unique, and the babies might be on the smaller side. However, just because there is a physical attribute associated with the diagnosis does not necessarily mean all children with trisomy 18 will have these characteristics, or markers. Because the syndrome can present differently in each child, it becomes important to understand that each case is unique. My daughter Agnes had full trisomy 18. She had a cleft palate and lip, among other markers, so she had a sweet special ridgeline of the mouth which I admired every time I looked at her. 

My new friends from the trisomy 18 community encouraged me to continue searching for a hospital and speciality team who not only COULD best support Agnes and me, but who WANTED to do anything they could to care for my daughter. And then I found Dr. Elvira Parravicini at Columbia University Medical Center in New York City. Within an hour of contacting the maternal fetal medicine center at Columbia with my background story (and already over five months pregnant), Dr. Parravicini’s Neonatal Comfort Care team called me, and asked me to come meet them immediately. When my husband and I arrived for the consultation, the first thing the team said to me was, “Congratulations on your pregnancy!” I knew right then we had found the doctors who understood my daughter’s life was deserving of dignity and respect. 

With the loving care and guidance of the incredible Neonatal Comfort Care team, our family developed a strategy to help bring Agnes safely into the world. We created several plans, but as Dr. Parravicini said to me in that very first meeting, “We follow the baby.” From that moment on, we prepared as much as we could, but we accepted that the best way to provide Agnes a wonderful life, no matter what challenges laid ahead, would be to meet her needs as they were, and quite truly, follow the baby. 

Agnes was born alive and thriving, despite the previous “specialists” assuring me she wouldn’t make it to a live delivery. She was double the size the initial hospital had predicted, and she was doing pretty darn well given her medical challenges. Her care team was phenomenal and immediately set to work stabilizing her and doing everything needed to have Agnes come home with us. I had confidence that no matter what we faced, the medical team overseen by Dr. Parravicini would do everything they could to give my daughter the love and expertise which any baby would deserve. It was clear that Agnes was valued and treasured at Columbia. And when Agnes was stable, set up with her medical equipment, follow-ups scheduled and excited siblings at home awaiting her arrival, we left the NICU with our little trisomy 18 baby all-star, grateful for everything. 

Agnes came home to live with the most loving siblings, all of whom wanted nothing more than to kiss their little baby sister, to sing to her, to play peekaboo, to show off the toys they had bought her, to spend every moment obsessing over her. We lived every day with a deep gratitude and took nothing for granted. Our family cherished every moment together, not knowing how long we would have, but hoped for the best;  we knew that Agnes had been given the best chance possible to live as she deserved. The day Agnes passed away, something inside told me it was her time. While we had given our all, Agnes had given her all, too. She passed away in my arms, the same place she was placed into immediately upon entering this world. Though no amount of time with my daughter would ever be enough, I know that every minute of her existence was filled with love and adoration. Our family saw Agnes for exactly who she was, a special, wonderful little girl gifted to us. Her life was beautiful and dignified, and I am grateful to be her mother.”