The month of March recognizes many holidays, but did you know March is also Trisomy Awareness Month? Trisomy is possibly a term you heard during early pregnancy, or for some not at all. It was a term that was unrecognizable and not thought of during my first pregnancy. To better understand Trisomy, let me break down a quick science lesson. Humans typically have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that make up growth, development and function. Trisomy refers to three copies of a chromosome instead of the normal two. For example, Trisomy 18 appears with 47 chromosomes, and a presence of an extra #18 chromosome. It is the second most common trisomy behind Down Syndrome. Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13) are the most common forms of Trisomy. March is the 3rd month of the year and a perfect way to bring awareness, education, celebration of children who are beating the odds, and remembrance of children who gained their angel wings.
It has been exactly five years that my journey with Trisomy 18 began when I was pregnant at my 11-week appointment. I opted into taking the Non-invasive Prenatal Testing (NIPT) that my OBGYN offered to determine any risk that the fetus will be born with genetic abnormalities and can also determine gender. While waiting for the tests results to return, I dreamt of being a mother and all the excitement that surrounds it. The idea of seeing our baby on sonograms watching them grow, the gender reveal, baby shower celebrations, and monthly bump photos were things I always looked forward to. At 15 weeks, my husband and I were about to attend our first sonogram appointment when I received the unbearable call. “Well, I have some things to discuss with you. Good news, IT’S A GIRL! Bad news, the NIPT test showed she tested positive for Trisomy 18” is all I heard the doctor say. Hearing the news was like an “out-of-body” experience. Hearing this news made me emotional and confused, in denial that there’s a possibility something was wrong with my baby. After all, the NIPT tests were 60% false-positive without further invasive testing.
My doctor had not had any experience with families that were diagnosed with Trisomy 18. She knew it was a personal choice to further this pregnancy, though she did us a great service by referring us to a Maternal Fetal Medicine (MFM) specialist to follow up more on the diagnosis. I agreed to confirm the NIPT diagnosis by an amniocentesis procedure, which is close to 100% accurate. Without invasive testing, like an amniocentesis or chorionic villus sampling (CVS), a prenatal diagnosis of Trisomy 18 is often followed with an option to terminate; a decision made by 75% in the United States and 90% in Europe. Being a family of faith, my husband and I prayed and decided to keep the baby regardless of diagnosis and everything that will be put upon our newly created family. It is a very personal and difficult decision for some, but we knew we would love our baby regardless. Honestly, I don’t remember “the call” to confirm that our baby girl indeed had Trisomy 18. There was a lot of mourning, silence and being stuck in bed, as this was a harsh reality that all my dreams of becoming a mother had just exploded in my face.
I needed a few days to comprehend this devastating news. Of course, we began to educate ourselves by scouring the Internet for any information on Trisomy 18, or Edwards Syndrome. A diagnosis that is constantly deemed online as “incompatible with life” and babies do not typically survive past second or third trimesters. If they do survive, half will die within the first week, and only 5% to 10% live beyond their first year of life. This grim news we held continued to go down a dark path with no hope. Then, I stumbled upon a Facebook group dedicated to helping Trisomy 18 parents with in-depth information, guidance and support. Some families provided their journey similar to ours but were not so lucky to have the medical support and were told to abort. Some families were denied service by medical professionals who influenced their opinion, rather than facts, or provide helpful information. But, many had stories of hope, pictures of joy, and celebrations of milestones. It was all I needed to see to change my mindset and take charge of what I needed to do for my daughter.
We kept our news to just immediate family members and close friends, as we knew they have always been supportive when times were tough. Although I didn’t post our monthly bump pictures, our energy was spent enjoying our journey privately by reading to her nightly, listening to her heartbeat on a fetal heart monitor, and preparing for the “what if” she was born alive. With the help of my OBGYN and MFM doctors, we were introduced to a Special Delivery Nurse Navigator, NICU Supervisor and Neonatologist at St. David’s Medical Center North. With my sister being a 20-year NICU nurse, she accompanied me and my husband when we met with the team to discuss our birth plan, procedures, our expectations, but also the realistic outcomes for Trisomy 18 babies, fatality and how to prepare ourselves. From our meeting, we had complete confidence in our medical team to follow our birth plan, and gave our full trust to our Special Delivery Nurse Navigator who hand-held us through it all. We continued our pre-birth journey by meeting our Palliative Care Team and Pediatrician who were all supportive and encouraged our hope by providing contacts and informative information as medical professionals. Looking back, I know this was God working his magic who led us down this path and gave us the right people on this journey.
There was a sign I always passed by daily on my way home from work that had inspirational verses, and for months leading up to my daughter’s birth it read “Life is tough, my darling, but so are you!” It was a phrase that has always stuck with me. At 40 weeks, my daughter was born via cesarean section with minimal oxygen support and had the common physical features: low birth weight, small mouth and jaw, clenched fists, clubbed feet and short sternum. She came out tough and was described by her NICU nurses as “feisty” but through it all it I am so grateful for all the decisions for intervention we made prior to her birth. Life is tough, the journey is tough, but I am her tough mother and will do anything to watch her thrive through life.
Support Organization for Trisomy (SOFT) inspires hope and respects all on their Trisomy journey. SOFT empowers families, celebrates hope, values research, builds community, and values respect. For more information on Trisomy 18, please visit www.trisomy.org