This month I'm going to do something a little different and share our personal story of why we have chosen to support the Down Syndrome community.
In the beginning of 2021, my husband and I decided to try for one more baby. I was 35 at the time and we had two healthy, beautiful little girls. I had no issues with my two previous pregnancies and although I was now considered advanced maternal age (AMA), I did not expect any major issues. We got pregnant immediately in the spring of 2021. At one of my early OB appointments, we were asked if we wanted genetic screening done because of my AMA. At first we thought about declining - we hadn't had the screening done with our other pregnancies and no matter what the results, we would see the pregnancy through, so ultimately the results wouldn't change our plan. But after discussing it we decided it would be fun to find out the gender of our baby earlier and if the results came back positive at least we would have plenty of time to mentally prepare before delivery. Having said that, I certainly was not expecting anything to be wrong. So at 12 weeks pregnant I had the blood screen done. I will never forget the day I found out the results. I was at work (I'm a NICU nurse) when I got the phone call telling me that the results came back positive for Trisomy 21 - Down Syndrome - and that the screening is 99% accurate. To be completely honest, I was in shock. I immediately started crying as I listened to the provider discuss the next steps. After explaining everything, my provider asked me if I wanted to know the gender of our baby. My husband and I had agreed to find out together, so I declined and said we would look it up on my online portal once we were together. After I hung up the phone, I couldn't remember half of what she had told me due to all the emotions running through me. There were so many thoughts going through my head. Disbelief. Guilt. Sadness. Fear of the unknown. Despite all those thoughts though, the desire and love for my baby never changed. I did not once regret getting pregnant, I very much wanted this baby, and ending the pregnancy was out of the question for us. I called my husband and let him know the results and fortunately both of our bosses were kind enough to let us go home immediately. My husband was so supportive and honestly handled the first couple of days much better than I did as far as emotions go. We found out that evening that we were having another girl! We let our close family and friends know immediately about the diagnosis because we have such a close support system and needed the support and prayers. The following week we met with maternal fetal medicine (MFM) and the genetics counselor over a video appointment (this was during COVID times) to discuss the findings, what they meant, our options, and the plan for the remainder of the pregnancy. The specific results of our screening determined a 92.74% chance of our baby having Down Syndrome. We were offered amniocentesis to confirm the results, but we declined. Although the risk of the procedure is low, I was not willing to risk the pregnancy and our baby who was very much wanted just to know for sure. We proceeded through the rest of the pregnancy assuming she had Down Syndrome. I wanted to make sure that when it came time for her to be born that the only feeling I felt at her birth was pure joy of having another child. For the remained of the pregnancy, I had doctors appointments every 2 weeks: a high-level anatomy scan, a fetal ECHO, growth scans, regular OB visits, and NSTs. It was hard - because of covid I wasn't allowed to bring my girls to any of my appointments so we had to find childcare for every appointment on top of the in-home childcare we use for my regular work schedule. It was stressful. Each appointment I would hold my breath and pray that nothing major would be found. As a NICU nurse, I do know about Down Syndrome and I was just praying my baby would be as healthy as possible. I had already planned in my head the possible need for a NICU stay when she was born, but we were just hoping to avoid any major medical issues. Each appointment went well and there were no abnormal findings on any of our scans/tests. Despite all the normal findings, we were consistently told by MFM that in 50% of babies with Down Syndrome there are no abnormal ultrasound findings so we were still believing that she had it. I planned for the NICU team to be at my delivery (the NICU nurse in me didn't want to take any chances) and I also asked that no matter how she presented when she was born that a karyotype be sent so we would know for sure either way. Our daughter Sadie was finally born the morning of December 12. I felt such joy when they placed her in my arms knowing she was finally here and the waiting was over. I remember her just staring up wide-eyed at me, quiet as a mouse, just taking the world in. While there were no obvious signs of her having Down Syndrome, I had a hard time convincing myself that the screen was wrong. Looking at her in that first day or two I wondered things like "Do her ears look a little low set?, even though all the doctors and nurses who saw her in the hospital agreed that she did not show any signs of Down Syndrome. After months of being told to believe something, it's hard to let it go until you get a definitive answer. And there's nothing wrong with that - I was fine either way. It took about a week for us to get the karyotype results back - normal female karyotype 46XX. She did not have Down Syndrome. There was definitely a lot to be thankful for - that she was healthy and would not face a life time of difficulties that come with Down Syndrome. But I also thought about how Down Syndrome children often have an easy-going temperament and how joyful they seem and I realized that a tiny part of me mourned the positives that come from having a child with Down Syndrome. That is not to say I wished she had it, but it's a funny thing how the human mind works and how we can't always control our thoughts, and sometimes they even surprise us. I tell our story because even though Sadie did not end up having Down Syndrome, our hearts and eyes were opened up to a world we thought we were going to be immersed in for the rest of our lives. We believe there is a reason for everything and we do not want to just forget what all we learned and went through. So we have committed to donating 10% of our profits to the Down Syndrome community - specifically Gigi's Playhouse. There is a link on the home page of our website that you can click on to learn more about Gigi's Playhouse and also 321 Coffee, another wonderful business that employs those with Down Syndrome. Feel free to educate yourselves on these organizations and know that any purchase you make from our store helps support this amazing community. Thank you for taking the time to read our story and I hope your hearts and eyes have been opened to a wonderful community of wonderful individuals who need to be loved, accepted, and supported.
Down Syndrome Facts:
- Down Syndrome is a genetic condition where an individual has 3 (an extra) 21st chromosomes
- Some features/symptoms of Down Syndrome can include: short stature, excess skin on back of the neck, low-set ears, a single line on the palm of their hand, a flattened face, almond shaped eyes that slant upward, a short neck, a protruding tongue; hypotonia - impacts speech, digestion, fitness, fine and gross motor skills, and more; cognitive delays - delays in speaking and processing verbal information; other major health issues: congenital heart defects, eye disease, obstructive sleep apnea, hearing loss, GI defects, immune disorders, dementia, obesity, spinal problems
- 1 in 700 births results in Down Syndrome
- Average age to give birth to a Down Syndrome baby is 28
- 80-85% termination rate
Gigi's Playhouse: https://gigisplayhouse.org/raleigh/
321 Coffee: https://321coffee.com/