My anxiety is through the roof posting this, but there’s something therapeutic about letting it be known.

You never think something could happen to you like this until it does and it’s like your entire life is flipped upside down in a millisecond. I’ve gone almost my entire pregnancy being told that everything with my baby is okay. Then one day it’s not, and a weight so huge falls in your lap, you don’t even know how to respond.

At 18 weeks, we first discovered 3 cysts on baby’s brain. This could’ve been a concern but my doctor wasn’t particularly worried. Most cysts heal themselves before baby is born, so we thought, “okay, we’ll just see if they’ve healed by our next appointment.” To be reassured, my doctor ordered a blood test that would show a percentage rate of if my baby was at risk for a genetic defect. The rates came out very low, so we tried not to worry.

By our next ultrasound, the cysts were gone, but the sonographer wasn’t able to get good views of baby’s heart so they wanted me to come back again. But my scheduled appointment got pushed back two times because the sonographer was sick. Finally, at 28 weeks along, I got another ultrasound.

This is when all the problems were first discovered. My baby was growing asymmetrical (meaning her head was normal size but the rest of her body was not). And the position of her heart seemed to be a little off. My doctor wouldn’t tell me much because he wanted to send me to a high risk pregnancy specialist who could do more in-depth tests and really tell us what was going on.

They got me in to see a specialist within two days. It was a Friday morning, and my husband came with me. We didn’t know what to expect so our anxiety levels were a little high. The sonographer came in and did an in depth ultrasound. They’re trained not to say anything to you until they’ve finished their scan and the doctor’s had a chance to look at it. So we sat there in silence and watched on the big screen as she scanned our baby brain, heart, and body. In our minds we kept thinking to ourselves, “she sure is spending a lot of time scanning the heart“ and “why is she spending so much time focusing on baby’s brain? Is there something wrong with it?”

The sonographer left with no word, and it took a good ten minutes before the doctor finally came in. And that’s when the ball dropped.

The issues she began listing off seemed endless, and we were certainly put in a state of shock trying to process it all at once. Yes, baby had a heart defect – extreme levocardia and a small hole, from what they could see. Yes, baby was growing asymmetrical. This could be identified as IUGR from placental insufficiency. When baby relaxes, the artery connected to her stiffens and blood/oxygen flow has a more difficult time pumping through. So parts of her body were measuring 2-4 weeks behind. My amniotic fluid count was particularly high which is why they began to suspect a genetic defect. Apparently it’s normal for babies with genetic defects to not be able to swallow as much amniotic fluid as other “more healthy“ babies would. This “polyhydramnios“, is what they call it, could cause preterm labor as my body thinks I’m much further along than I actually am. That same day I received steroid shots that would help speed up the development of my baby’s lungs in case she would need to be delivered early.

We also spoke to a genetic counselor who learned all about our family’s medical history to see if there were any links tying to a genetic defect. There were none. They drew my blood, and results of what could be going on would arrive within a few days.

We went home feeling very overwhelmed and in a daze. I was in denial most of the weekend. It was so strange to me that I went through over half my pregnancy believing that my baby was just fine.

Monday came quickly. Monday night is when we received the call. The genetic counselor wanted to alert us right away as soon as she got the results. My husband and I were standing in our bedroom with speakerphone when she told us that they found partial fragments of an extra 18th chromosome. This was linked to a genetic defect called Trisomy 18 or Edward’s Syndrome. And these results were seen from NIPT bloodwork, for those who are familiar with this process…

This was a very difficult pill to swallow. Within minutes after the phone call, our genetic’s counselor sent us pamphlets and fliers over email with all kinds of information on Trisomy 18. The statistics for survival rates were horrifying, and something no parent would ever want to see. I had no words after the phone call. I didn’t say much because the shock I felt was rolling off of me in heavy waves and rendering me speechless. How could this be happening? Was this all a dream… a nightmare? I wasn’t sure.

I sat in the backyard at dusk and watched my husband water the plants. We didn’t say much to each other. We were simply trying to process it. Would our baby survive? How long would she live?

I finally did cry at this point, but I really didn’t know what I was crying for. I still had so many questions. There were still so many unknowns. In particular, PARTIAL Trisomy 18 is one of the rarest conditions. More rare than Trisomy 18 alone. There really wasn’t much information online regarding partial Trisomy 18. It was strange and also unnerving. It made the questions we had double for us. From what we could research, partial Trisomy 18 could, in some cases, have milder symptoms than full Trisomy 18.

That was the only bit of hope we could hold onto.

At this time, I discovered a few private Facebook groups of parents with Trisomy 18 children. It was incredible to see just how many survive and thrive even beyond birth. Everyone’s situations were uniquely different from the other. Some one gave me great advice during this time as they told me to not focus so much on the diagnosis (partial Trisomy 18) but to focus more on her medical conditions. This would tell us more on her life expectancy.

At the time I’m writing this, we are still waiting on seeing a Cardiologist specialist who can tell us way more about our baby’s heart and what sort of procedures will be needed after birth. We’re truly hoping for the best.

I did opt for an amniocentesis shortly after this. I was terrified to do it, but I wanted to be sure. I have heard of some cases from other parents who’s amnio results showed different results from the NIPT bloodwork. At this time, we’ve already received back the preliminary results. Yes, our baby has partial Trisomy 18. The likelihood of the full amnio result displaying something different is not likely. But we will keep everyone posted.