Receiving a birth diagnosis of Down Syndrome

Our journey begins on a trip my husband and I took to Hawai'i. We had always loved to travel together, and while taking in the breathtaking views of Kauai, Hawai'i, we decided we wanted to share the world with our child. It didn't take long to get pregnant, and we declined genetic testing. We both figured we didn't want to worry if something came back high risk, as I didn't want to get an amniocentesis. Considering I was only 23, I thought the percentage was too low for our baby to have any genetic conditions.

Overall, my pregnancy was completely normal with some nausea in the beginning and then a spurt of energy in the second trimester. As soon as I hit the third trimester, I started to have severe swelling in my feet and legs. Considering we were living in Atlanta and it was June, the doctors reassured us it was a normal symptom and to just prop up my feet. At 35 weeks and 5 days, I went in for an ultrasound to see if our son was still in the breech position. Luckily, we found out he had flipped, but my amniotic fluid was low and my blood pressure was borderline concerning. They sent me home to do a 24-hour urine test to check my protein levels and told me to monitor my blood pressure at home. If it went above 140/90, I was instructed to call the on-call doctor.

That same night, I went to check my blood pressure around 9 PM, and it was around 160/110. I told my husband, and he urged me to call the on-call doctor. I really didn't know much about high blood pressure, but the doctor told me to go straight to Labor and Delivery. It was a whirlwind 24 hours, but in the end, I was diagnosed with severe preeclampsia and was induced.

I was not dilated at all when they induced me, so they had me start with CERVIDIL. After about 10 hours, they inserted a foley, which was the most painful part of labor for me. That was in for about three hours, and after the removal, they broke my water and started me on Pitocin. After about thirty hours, the on-call OB came in to talk about a C-section. I was still only dilated to 5cm and I couldn't even feel the contractions even though they were about three minutes apart. She urged me to get an epidural because if I ended up in a C-section, I would have to get one regardless. So I went with her advice, and I am so happy I did. My body responded very well, and overall it helped me relax. I was able to get some sleep, and when I woke up, I was at 9 cm.

After an hour of pushing, Luca came out and they immediately weighed him. We already knew he was weighing small from my level 2 ultrasound they did when I was admitted to the hospital. They thought he was going to have to go straight to the NICU, but he was just a few ounces over the limit. I was able to do an hour of skin-to-skin contact. However, afterwards, the nurses took him to clean him up and check his blood sugars. They were critically low, so he was then rushed to the NICU.

An hour and a half went by in a blur and all I remember was Michael ordering us a Pizza Hut. It had been a total of 2 1/2 hours since I delivered Luca when the Neonatologist came in to talk. She immediately told us Luca had several soft markers of Down Syndrome including almond eyes, Palmer's crease on one hand, sandal gap on his feet, and low muscle tone. People always ask what our reaction was, and to be honest, we didn't give it much weight. We thought she was being dramatic because we had just held our son in our hands and he was perfect. I guess in the end both the neonatologist and I were right.

Five days later, it was confirmed via a blood test that Luca had Trisomy 21. Michael and I left the hospital in tears and spent the next few hours crying some more. We were so afraid of what our lives would look like and never in my life had felt so alone. On our drive home, we passed by a Montessori preschool right by our home that I had always envisioned him going to one day. The grief hit me hard, but it was coupled with guilt. I felt I didn't deserve to grieve because I was actually able to have a baby earthside, which some families never had a chance of doing.

Luca spent a total of fourteen days in the NICU. The first seven days he spent stabilizing his blood sugars, and the last seven were spent learning to drink from a bottle. The day we came home felt like so much weight off our shoulders. It was also the day I vowed to never let anyone else who received a Down Syndrome diagnosis for their baby to feel alone like I did. I still uphold that vow today.