Journey, we hear that word a lot lately. Maybe it is just me because I am starting to embrace and love my true self. I took a step off the “expected” path to follow my passion and my dream to work for myself doing something I love. It is truly a journey, learning and making adjustments big and small to get where I need and want to be. My journey continues and I know I could never have done it with out the support of family and friends . Along my journey I met Rachel who was on her own journey, one she was not expecting. Rachel and I met while I was volunteering for GiGi’s Playhouse Raleigh, an organization with a mission to change the way the world sees Down syndrome and for individuals with Down syndrome to be accepted and embraced. Rachel has an infectious smile and she is the mom to Kendall who also lights up any room he enters. With a common goal to support others on a similar journey, Rachel and I are partnering to share her story. Our goal is to help others learn to make the adjustments, big and small and to offer support for families and individuals with Down syndrome. We are on this journey together, please join us.
A New Beginning
December 9, 2014.
I remember it all so vividly. The images in time stand still in my mind. It was the middle of the day on a Tuesday and my husband had picked me up at the entrance to my office, where I snuck out of our annual holiday celebration. The rain was beating down, making it hard to see the road ahead, but the anticipation and the excitement was building with every minute that passed. We were running behind, as usual, but with the poor weather and the usual wait we didn’t rush. My husband, Ed, dropped me off at the front door of the hospital so I could check in while he parked the car. I made my way to the elevators and up one flight to the maternal-fetal wing. I checked in and took a seat until it was my turn. Ed eventually found me and we sat in silence while we waited for them to call my name. The waiting room was cold and dark and had the quiet rumblings of a daytime talk show playing on the TV overhead. Every time the door would open I would hold my breath in anticipation of hearing my name. We pulled out our phones and began to browse the internet and fumble through our social media pages, passing the time. Eventually a nurse called my name and we followed her down the dim hallway where she proceeded to take my vitals. We then followed her to visit with Erin, a genetic counselor, in preparation for our first trimester screening ultrasound that was about to take place. We were 12 weeks pregnant and so excited to see our growing baby.
Erin informed us that with this first trimester screening we could elect to perform a variety of prenatal screening tests to determine if there were any abnormalities with the fetus. I immediately declined anything invasive. There was no need to risk another miscarriage if we planned to carry the pregnancy to term, regardless of the results. Erin told us the technician could perform some simple screening tests during the ultrasound, which would simply consist of a few additional measurements. She told us that these additional measurements could help determine if there was a chance of chromosomal abnormalities or a congenital heart defect. She presented us with statistics and asked us if we wanted to proceed with these additional screenings. I had just turned 33 and wasn’t considered high risk due to maternal age. I consented to the screenings with the mindset that the likelihood of everything being perfect was super high and that there would be no potential harm to the baby. We signed some forms and moved on to the ultrasound room.
We walked in to the dark room where I was instructed to undress from the waist down, lay on the exam table and cover up with the rough, white paper cloth. Ed took a seat beside me and we eagerly stared at the monitor waiting for a glimpse at our little nugget. Everything was going as planned and was looking perfect. The additional screening that I had consented to, called the Nuchal Translucency scan, is when the clear space in the tissue at the back of the neck is measured, between 11 and 14 weeks’ gestation. 1-3mm is considered a normal range of measurement. I have no idea how I came to know that but during the ultrasound I saw the technician type in 5.6mm behind the head. She didn’t say a word. As soon as she left the room to share the results with the doctor I looked at Ed and said something is wrong. He tried to convince me I was just nervous and it was my hormones causing me to worry. He assured me that everything was just fine. After all I was young and healthy and there were no instances of chromosomal abnormalities in our families. But when the doctor walked in with Erin, I knew it. Erin was standing at the door, holding a large packet of information. The doctor sat down on his rolling stool and wheeled it right up to me. He put his hands on top of mine and with a soothing, gentle voice told me that the ultrasound revealed that our baby had a fetal cystic hygroma, excess fluid behind the neck. There was an 85% chance that it would be born with some form of Trisomy (13, 18 or 21) and a 50% chance of a heart defect. Tears streamed down my face as I nodded to him that I understood everything he was telling me, even though I was barely listening. It was so dark in the room and my eyes were filled with tears that I felt like I couldn’t see anything, yet I couldn’t take my eyes off him. It was like I had an out of body experience and had lost touch with reality. In those few minutes and with those few words, my entire life changed. Those moments are ones I will never, ever forget.
We were offered a new cell-free DNA blood test, called a NIPT (Non-Invasive Prenatal Test) that would give us results that were 98.6% accurate. I needed to know. I agreed and we were sent downstairs to the lab to have my blood drawn. I remember walking down the hall sobbing and feeling like everyone was staring at me because I was growing a less than perfect baby. While that was obviously not the case, it was my first encounter with the internal fear of “what will others think?” This blood test was another screening test and not diagnostic, but with over 98 percent accuracy I felt that this was going to give us the best answer possible, without risking the baby’s health. The test counts fragments of DNA from the placenta that are circulating in the blood and if there are extra fragments of any of the chromosomes, the abnormality is determined. It would be 2 weeks before we got the results. We left the hospital devastated.
I couldn’t talk to Ed. I was crying. I was mad. I was hurt. I was sad. And mostly, I was confused. I wanted to comfort Ed but I was too busy crying to try to help him. When he’s sad he doesn’t really show it. And when I’m sad he does his best to find the positive. He can see the light when there is only a tiny sliver and me, I crawl up and hide in the darkest of darkness. I texted my parents and my sister because I couldn’t bear to say the word Trisomy out loud. I didn’t know what to say.
Ed and I met in high school. He was a star basketball player and I was a cheerleader. We went on to college and then I got my MBA. I had a wonderful job working in pharmaceuticals, were I had plans to continue to climb the corporate ladder. We never missed Carolina football games and had very active social lives. We pretty much had the storybook life. How could this be happening to us? Why was this happening to us? I didn’t know anything about Trisomy. Every thought running through my mind was negative. Was my baby going to die? Would my baby live and live with me for the rest of his or her life? Could my child ever go to college? Was my older son going to have to be responsible for his sibling after we were gone? These were all questions that were constantly swirling in my mind and I struggled with not knowing the answers. Was I worrying over all of this for nothing? The fetal cystic hygroma indicated an 85% chance of an abnormality. What if we were the other 15%, with a false positive screening exam, and everything was going to be fine? With each passing day, I felt like I didn’t know how to connect with the baby that I was growing. Honestly, I didn’t know if I even wanted to connect with it. I was lost and scared and there wasn’t anything anyone could do to help me.
I googled the different Trisomy types and tried to see the positives. I tried to imagine what my life would be like if my baby was born with one of these. From all the research I could find, if the baby was born with Trisomy 13 or 18 I could expect it to not make it past a year old. And if it was born with Trisomy 21, there would be significant physical and intellectual delays. I couldn’t imagine it. And I couldn’t find any happiness within it. I was in a fog for those 2 weeks. On December 23rd, we received the call. We were in the kitchen. I was baking for Christmas. Our 5-year-old son, Deuce, was in the living room playing. And she said it. “There appears to be an extra 21st chromosome. And there is also a Y chromosome. Your baby is a boy.” There was a 98.6% chance our baby was going to have Down syndrome. I didn’t cry, not until I saw my mom anyway. I just stared at Ed. I thanked the nurse. And I hung up. In that split second, with those few words, my life as I knew it changed. Our son was going to have Trisomy 21, more commonly known as Down syndrome.
I still had 6 months of pregnancy left. 6 months of preparation. Mental preparation. I didn’t have any testing done with Deuce and my justification was because I was not going to terminate the pregnancy for any reason. Why stress myself out? What I didn’t think about was the mental preparation that is required when special needs is involved. This time, I had 6 months to mentally prepare myself for what lied ahead. And for that I am now thankful. I spent my entire Christmas break from work reading everything I could about Down syndrome. I was doing the best I could to picture myself parenting a child with special needs. I learned so much. I learned about challenges but also about how much more enriching my life would become. And then I mentally wore myself out. I didn’t want to read about it anymore. I didn’t want to talk about it anymore. He would be different. So, what? When I became a mother, I fell hard. As all mothers do, I learned to love hard and fierce. Why would this time be any different? It wouldn’t and I knew it. I still had a responsibility to nurture and love this baby growing inside me, no matter the physical or intellectual differences. Day by day, things were getting better and I was getting stronger. The months came and went with countless appointments, ultrasounds and specialist visits.
On Thursday morning, June 4, 2015, at 12:26 am, Kendall Mason Geer made his entrance into our world. At 20 inches long, he was 6 pounds and 7 ounces of beautiful, healthy baby. He is our beautiful, healthy boy who has been blessed with an extra copy of the 21st chromosome in every single strand of his DNA. From the moment I laid eyes on him, I knew that I loved him more than anything in the world. He was meant for me. I needed him in my life. I need him to remind me to be more compassionate. I need him to teach me how to be more carefree. I need him to continue teaching me more about the person I want to be and I want to share him with the world.
I hope that through this blog I can provide you with a peek into our everyday life with Kendall, through my words and Patty’s amazing pictures. I am looking forward to spreading awareness, as well as the joy of Down syndrome with all of you. Welcome to our family.