Our Trisomy 18 Journey: The Amniocentesis

A doctor holds an amniocentesis needle with a message about dealing with the procedure after a unexpected anatomy ultrasound during pregnancyMy husband and I called up my parents, as we always do in a crisis, and asked if they could come spend the night and take our daughters to school in the morning so we could get to the 7:30 a.m. amniocentesis. Again, it was as if the doctors wanted us there when no one else was around. Pregnancy is supposed to be a happy time and the last thing they wanted was a weeping mother in their office, or at least that is how it seemed at the time.

My heart broke because that day happened to be the Mother’s Day celebration in my youngest daughter’s preschool classroom. The children had been working tirelessly to perfect their special songs, one in English and one in Spanish. There was no place on Earth I wanted to be, and yet, I was unable to tell the doctor’s “no.” 

My dad came and ushered the girls off to school while my husband and I headed across the bridge for our dreaded appointment. Upon arriving, we were escorted brought back to a room where a nurse took my vitals. From there, I was moved into a different room with more machinery. One lady, a kind and tender woman, gave me a hug and let me cry as she did another quick ultrasound. She asked me if I wanted to look or if she should turn off the screen in front of me. I wanted so badly to close my eyes and have it all be a nightmare, but it was very much so my reality. I couldn’t look away. As much as it hurt, I needed to see him again. I needed to hear my baby’s heartbeat. I wish now that I would have recorded it.

When she finished taking some quick pictures, she printed a select few and put them in an envelope for my husband. The doctor came in and apologized for the circumstances, which has been the reaction most people have had towards me since I first received the news. I cannot tell you how many people have said, “I’m sorry to meet you under these circumstances…” While I am truly appreciative of all the compassion I have received, those words have never made things easier.

amniocentesisThe doctor that day was a man, but there were three, maybe four women in the room also. They all had looks of deep sadness on their face, which I am sure was a reflection of the way I looked at the time. My heart was shattered and I certainly did not want to be in that office. The thing is–I had to know. I had to know with 100 percent certainty that my baby boy had Trisomy 18.

I do remember that beforehand, during a conversation with the fetal maternal specialist, that I had received a warning about the chance of miscarriage as a result of the amniocentesis. At that moment, I felt frustrated at being told my “odds” of something like that happening because clearly, the “odds” were against me. So much so that the doctor’s originally declined the early cell-free DNA test because I wasn’t “high risk” and yet there I was, being told my child indeed had “something wrong.”

I remember thinking that, if they thought this baby had Downs Syndrome, I would have absolutely declined. But this was different. Trisomy 18 was not Downs Syndrome (also known as Trisomy 21). It was something far worse. I needed to know what my sweet boy was facing and if this was the result of something hereditary. I needed to know if this was something my daughter’s or my stepson may someday have to face. I needed to know that this wasn’t all a big mistake.

They told me it wouldn’t hurt, but that it would uncomfortable.

Part of me wants to tell you all that was true, only because I don’t want other mama’s to go in afraid. But to be honest, it did hurt. Maybe it was the needle, or maybe it was just me being so tense and emotionally distraught at the fact that they were entering my womb and sucking out fluids. The process itself didn’t take long, but it felt like a lifetime.

The doctor finished up and told me that all had gone well and that my sweet little guy had stayed out of the way and would likely be fine. My stomach was bleeding from the small needle puncture and despite it being no big deal in terms of a “wound,” it felt like I had just been stabbed–at least emotionally speaking. It was a hard thing to go through and I feel for all expecting mother’s that ever find themselves in a similar place.

Before leaving, I was told that depending on the lab, it could take a few days, possibly up to 10, to get the results. The doctor was kind and told me he’d call and check in either way. I was warned that I’d like have some uncomfortable cramping for a day or so. I also was reminded to keep an eye out for signs of miscarriage.

Honestly, one of the biggest challenges of all of this was the waiting. It was agonizing.

On a lighter note, the procedure went so fast that my husband and I were able to get out of there and make it to the Mother’s Day performance at the school on time. In the end, my daughter had more people there supporting her than anybody else in the room.

While part of me was agonizing over my baby boy and his fate, another part of me was rejoicing at the extremely beautiful person my little daughter had become. It was bitter sweet

#Trisomy18 #amniocentesis #geneticdisorders #EdwardsSyndrome


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