It was around dinnertime and I was struggling to get food ready for the kids before the older one needed to head off to one of her activities. A typical evening in the life of a mom.
The phone rang and it showed a number from a far away area code; a number whose calls I had ignored earlier in the day, as I make a habit of not answering “unknowns” and prefer to wait for a message. For some reason, I made the decision to answer it, even in the midst of being so busy.
It was Dr. Weed, the maternal fetal medicine doctor who had performed one of my earlier ultrasounds, calling from her personal cell phone. That, in and of itself, should have been an indicator for what was to come.
Earlier in my pregnancy, like most expecting mothers, I had was sent to maternal fetal medicine for integrated screening to test my child for risks of genetic disorders. Dr. Weed was calling to give me the results of the second part of the blood work. I remembered when they had called me with the results of the first portion, and feeling scared when they left me a voicemail. No news is good news, right? So getting a phone call threw me off guard. When I called back, I was told that first set of blood work looked good and it corresponded well with the ultrasound, which showed what seemed to be a healthy, growing baby.
When I answered, Dr. Weed explained that she was calling to give me the second set of results. I told her that I had my 20-week ultrasound the very next day, and that I planned to pull my older daughter, who is nine, out of school so she could find out the gender with me. I wanted it to be a special day for the two of us.
She stopped me mid-conversation and warned me that the second portion of the blood work brought up some concerns. She was very kind and courteous, and although I was scared, she helped me remain calm. She told me that the results indicated a high possibility of a rare genetic disorder, called Trisomy 18, or Edwards Syndrome. She explained that these babies have an extra 18th chromosome and that, due to the complications of having such, their bodies are “incompatible with life.” She mentioned words like, “clubbed feet, overlapping fingers, heart defects, inability to swallow.” I felt a wave of fear, realizing that I hadn’t felt the baby much as of lately. Dr. Weed wanted me to prepare for the idea that perhaps the baby had already passed away, like many Trisomy 18 babies do. She explained that ninety-five percent of these babies pass away before birth, and of the remaining five, only ten percent of those live for a year.
"Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a error in cell division, known as meiotic disjunction. When this happens, instead of the normal pair, an extra chromosome 18 results (a triple) in the developing baby and disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth. A Trisomy 18 error occurs in about 1 out of every 2500 pregnancies in the United States and 1 in 6000 live births. The numbers of total births is much higher because it includes significant numbers of stillbirths that occur in the 2nd and 3rd trimesters of pregnancy." (Trisomy 18 Foundation, 2018).
She also let me know that there are times when the blood work is completely wrong and the numbers were the result of an error.
I chose to believe that. I have had incredibly bad luck with doctors and hospitals throughout my lifetime, and decided to face that phone call in the same manner that I had learned to face other instances in my life. I chose to not stress out in anticipation, but rather to just wait for the next day’s ultrasound to prove the lab work wrong.
While I chose to not bring my daughter along, I was ready to find out if I was having a boy or a girl.
As a side note, my sister-in-law and cousin, who both recently had babies, suggested that I ask for the Cell-Free DNA test earlier in my pregnancy, which is a luxury to most expecting mothers as it also reveals the baby’s gender after just a few short weeks of gestation. The alternative–the traditional method–is either waiting for the 20-week anatomy ultrasound or, of course, being surprised on the big day.
I wanted to know, although my husband did not. I asked for the Cell-Free DNA screening and was declined. I was told that I was “not high risk for genetic disorders” and therefore didn’t need it. The waiting was agonizing, but I had done it before, and was anxiously awaiting the big reveal.
While this phone call certainly changed things, I did my best to remain optimistic and then did what I always do in times of crisis. I called my mom.