Our Down Syndrome Diagnosis Story
Last Valentine’s Day I had a boy steal my heart. My joy of my first pregnancy was stolen for a moment too. Two weeks prior I had my first OB appointment. I had found out recently I was 4 months pregnant & it was my first prenatal visit. I had tons of testing to catch up on I missed in the first trimester. I had saw my 17 week old baby for the first time the week before. My doctor asked if I wanted to do genetic testing since my parents insurance covered it. My parents drove out to jersey to go to the appointment with me & my mom was in the room. The doctor added we’d get to find out the sex of the baby, so of course we were all in. Not once did it cross my mind that anything would come back abnormal. Nor did my OB inform me of those possibilities. I was 24 and “healthy.” There wasn’t any history of genetic issues in our family. You never think something will happen, until it happens.
On Valentine’s Day last year I got a call from my doctor in the morning. I was working on a really big project for my job at Jack Daniels in the garage on the farm. I remember my doctor asking if I was sitting down or somewhere I could talk. He went on to tell me my NIPT result came back positive for Trisomy 21. I had a 46% chance of having a baby with Down Syndrome. 50/50 shot. I hadn’t even known the sex of the baby yet and I was already being told something could be wrong. I asked that the test results could be posted to my portal ASAP so I could review them. I was just so in denial of what the doctor told me. I spent hours upon hours that weekend searching message boards & the internet for the likeliness of a false positive at my prime child bearing age of 24. I was trying to convince myself it couldn’t be true.
Now that I had a positive for a genetic disorder, I had to meet with a genetic counselor and meet with a doctor after my anatomy scan at 20 weeks. I had studied up ahead of time to know what “Down Syndrome” ultra sound anomalies look like. Rowen had none of them. They look for short femurs, fluid behind the nuchal fold, no nasal bone & bright spots on the heart just to name a few. I met with a Maternal Fetal Medicine doctor after my ultra sound & he suggested getting an amniocentesis. I told him “If the risk of a miscarriage is greater due to a history inflammation in the body I am not getting one. I will love him & whatever comes along with it.” I didn’t want to risk a miscarriage over the selfish need to know if my child was going to be “different.” I would never be the same person had I found out I was half way through a pregnancy then 2 weeks later lost the baby. I don’t think anyone would. I did have a doctor inform me that termination was an option, but that’s for another time.
They sent me to Children’s hospital of Philadelphia Fetal Heart Program to get a detailed ultra sound on the heart. The best of the best. Down Syndrome babies are prone to heart defects & needing open heart surgery within weeks or hours of being born. Everything checked out, his heart was fine. They chose to treat me as a normal pregnancy going forward. A week before I went into labor I started a weekly non-stress test for the baby just as a precaution due to the test results. In my free time while I was pregnant, I still researched doctors and gathered resources together “just in case.” I was convinced up until the day he was born he wouldn’t have Down syndrome. Even at a 35 week 3D Ultra sound he had none of the features. I gave birth a week later.
Tuesday June 16, 2020 my water broke at 4:30 AM. By 10:50 PM that night Rowen James had entered the world. I got my epidural right when I started to get the urge to push so I was out of it for the rest of the night. Birth is a euphoric experience. It’s literally an out of body experience. On top of pain meds, I was out of it. I remember getting back to my postpartum room at 4 AM & telling the nurse how the doctors thought he was going to have Down syndrome etc. I was still so out of it but I remember her asking me “Would you love him any different if he did?” I said “Absolutely not.” Then continued to go on about what the doctors said and in denial that he could be born with Down Syndrome. I didn’t know it then but it foreshadowed the news we got later that morning. She knew.
The next morning it took me a bit to fully come too. I had been staring at him for an hour when I saw the almond shaped slanted eyes. They came in to start his hearing test and the pediatrician came in to interrupt. “Can you come back? I think I’d like to talk to the parents” he said. I knew exactly what he was going to tell me. My baby has traits consistent with Down Syndrome. Although I was prepared to hear those words it didn’t shock me any less. I listened to what he said and I just blacked out. I think his dad handled it a lot better than I did. His personality is just naturally a calm demeanor. After the Pediatrician left, I took an elevator down to Front Street of Harrisburg 13 hours after giving birth and just paced around. Sat on the curb. Made phone calls. I was numb. Not because of the diagnosis, I knew I could process, grieve that correctly and turn it into something positive. I had prepared myself for this. I just couldn’t handle anymore emotional trauma or shocking life altering news. I had to plead with the nurse manager to let my mom come back to the hospital because of the COVID rules. Luckily, due to my mental state they let her come back so she could be there for me. My best friends little sister brought me Chick-fil-A & sat on the street with me while I cried. Covid prohibited her from coming into my room so this is the only way I could have visitors and support. (I love you Em. You have no idea how comforting you were at a time I needed it most.)
I finally gathered the strength to go back upstairs. Out of breath, seeing stars and near passing out because I definitely should not have been so ambitious after just giving birth. I’m a Taurus, after all. Part of me wanted to get an Uber right there, leave the hospital, get my things & drive back to my life in New Jersey. Leaving my baby behind and everything that happened. I can verbalize that now because it’s been part of my healing and grieving process. I went through a lot of traumatic events in a short amount of time. I knew I loved my baby boy way too much to leave him behind. If I’m being honest, I was scared I wouldn’t be a good enough mom for someone so special like him. I wouldn’t be able to keep up with all the medical stuff. I was scared of how people would treat him as he grew up. I was still suffering from crippling anxiety that would effect him. It turns out I was the perfect person for the job. As soon as I got back upstairs I went into “go” mode. I dug up every resource I researched while I was pregnant. Wrote doctors down for every specialty. Got the phone number for Early Intervention to get him enrolled immediately out of the hospital. I wanted to do everything in my power for Rowen to succeed. It all starts at birth. I knew that being in Psych. I wanted him to have the best of the best when it came to a medical team who would follow us throughout his life. 8 months later, I have the best of the best and I’m so lucky to have the team for my son that I do. He’s now a patient at the Children’s Hospital of Philadelphia Trisomy 21 Clinic. They will follow him until he’s 21. Then he will transition into their adult program. Our first few appointments with genetics post birth were with Hershey Medical Center. I just always felt so negative and sad after we left there. Like all they gave me was bad news. We waited 7 months to get into CHOP and finally just had our first appointment January 5th. The difference in environment and treatment was a world of a difference. His dad & I left that appointment swooning over our positive experience. CHOP is the #2 Children’s Hospital in the country yet they still manage to treat us like family. Today, Rowen is thriving and doing amazing. Meeting milestones at his own pace and working hard every day.
In hind sight, I don’t know if I would have gotten the genetic testing if I had more information on it. It was marketed to me as a way to find out if it was a boy or girl. Not the risk of finding out shocking and life altering information. That was my biggest issue with it all. I remember those last 5 months of my pregnancy. How anxious I was going back & forth in my head whether he was “okay” or not. I wish I would have never know. But I guess I can say it did prepare me. If you’re pregnant & reading this….in the same shoes I was….I want you to know it’s okay to feel all the emotions. Don’t feel guilty if you have negative thoughts. Accepting that your child will be different is a process. To be the best parents we can be to our special kids we need to grieve what we thought would be a trip to Italy and ended up in Holland. We are human after all.
