A Prenatal Down Syndrome Diagnosis
The unexpected news is what is usually so hard on a new mom. When you are anticipating a typical path, and you are given a slight detour, it can rock a mama’s world. This is where moms overcome, and are reborn as the most fierce mama advocates. A Prenatal Down Syndrome Diagnosis is not the end, it is only the beginning. Meet this beautiful baby, Everest, and her equally strong and beautiful mama, Taylor.
At my 20 week ultrasound I took videos of my baby girl dancing on the screen because my husband couldn’t get off work to join me. I was making conversation almost oblivious that the ultrasound tech kept going back to Everest’s heart. Apologizing that it was taking so long, she said that Everest was tucking her chin and causing a shadow so she couldn’t get a good picture. I asked if everything was looking good and she said so far so good.
I took my handful of ultrasound pictures out to the lobby and waited to meet with the doctor. As the office began to empty the picture of Everest’s feet stuck out to me, I sent a picture to my husband and jokingly asked where she got her long toes.
When the waiting room was bare my nurse called me back. I was still all giddy over the pictures of Everest I didn’t even notice she skipped all of the usual vitals. My doctor stepped in and sat down in front of me. The next few minutes were a blur, but I know he said there are some features that point to Down syndrome; an absent nasal bone, short femurs and a heart defect. He was going to refer me to a specialist. Also, he wanted me to get the harmony test that I had opted out of previously. I sobbed. He gave me some time alone, and I had to go ask him where to go for labs and when my next appointment was because I couldn’t remember anything that he had just told me.
I was barely out to my car and the first call I made was to my husband and all I could say was “there is something wrong with our daughter”.
The next day I left for a road trip with a friend. Most of the nine hours in the car were talking about the previous days
appointment and what Down syndrome might look like. I looked through my Facebook friends ultrasound pictures to look at their babies nasal bones and their feet. After some google searches, I found out that Down syndrome causes sandal gap. It’s a gap between the big toe and the second toe. Back to Everest toes… that’s why it looked like her second toe was longer than her first. I got the call from my doctor when we were at a spa in Taos, New Mexico that the blood test came back and “confirmed what we were suspecting”. I went outside and called my husband and my parents and cried. I received a text later saying “it’s ok to mourn” this didn’t sit right and I knew from that point that I had to show everyone that this baby is still my perfect baby.
Up to that phone call, everyone was telling me they were praying for healing of our baby girl. That killed me. I felt like people were saying she isn’t perfect. Even after the blood test came back positive I had people tell me that the results could be wrong. Deep down I knew that she had Down Syndrome as soon as the doctor said he suspected it.
I had family members asking me when was too late to get an abortion. And another one tell me this is why they offer the blood test early on. I opted out of the test because I knew regardless of any of the results that would come up would have no affect on my love for my child. Almost 70% of babies in AMERICA with high risk for Down syndrome are aborted, and in other countries close to 100%.
When the appointment with our specialist finally arrived, he couldn’t tell us anything except that her heart defect was out of his league. He referred us to another clinic even farther away.
More waiting.
Our next appointment was on a Friday afternoon, for a fetal echocardiogram with a cardiologist. She told us that Everest not only had a hole in her heart but two holes and common valve which would require surgery at around 8-10 pounds or 4-6 months old. Also, she had a coarctation of the aorta which would require surgery at birth so I’d have to deliver Everest there. She said that Down syndrome causes low muscle tone and that could delay feeding so we could be in the nicu until the second surgery. Four to six months, three hours from home. After all of that news my husband, my parents and I were all stunned. We could barely talk to each other. Then the Maternal fetal medicine doctor came in, the only thing he told us was it looks like she doesn’t have a stomach…. again silence from everyone. He asked if we had any questions and left. The genetic counselor came in to chat with us and the mfm popped his head in again and said that the other doctors didn’t mention the missing stomach and left again.
The following Monday I was on the phone with my doctors office wanting to know why they didn’t tell me she was missing a stomach.
A few weeks later at the same office I had another mfm tell us that Everest was in the 10th percentile and in a “normal” pregnancy they would want to see us twice a week so we didn’t lose the baby, but the decision was up to us. I was shocked!!! I asked her what the question was…. and then proceeded to ask when our next appointment would be. This still blows me away. A doctor telling me that my pregnancy isn’t “normal” because of an extra chromosome. I was going to Little Rock once a week for an ultrasound as well as my doctors office in Fort Smith for the last two months of my pregnancy.
Following that day, I was talking to someone who’s wife was also expecting a baby. I asked how everything was going and he told me they had the harmony test done and were anxiously waiting on the results. He said that the doctor told them no phone call was good news. My heart sank and my throat closed. Fighting the tears I knew I had to stand up for my unborn daughter. I told him that I had opted out of the blood test but found out at the 20 week ultrasound that Everest had Down syndrome.
I vow to be my daughter’s advocate as long as I live. She is so loved by many. I’m so thankful to be blessed by her life and to have the privilege to be her momma.
Taylor has been married to her husband Brody for 3 years. They love to go on adventures together like camping, backpacking, rock climbing and kayaking. Now they have an extra adventure buddy to go with them, Everest, and she loves it just as much. Follow their journey on instagram @stayycharmed.
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