Kate + Ellis: Journey with an Extra Chromosome

Written by: Kate Fowler

My name is Kate Fowler and I am the lucky mama to Ellis, our 2 year old son sporting an extra chromosome.

I feel honored and privileged to write a little bit about our story with Ellis. We may only be in the beginning stages of our journey, but as a family it’s difficult to remember what it was like without each other. I hope everyone reading this is able to give me grace in any moments of uncertainty I had in the process.

My husband Eric and I always knew we wanted to be parents. Motherhood was something I felt passionately about and I looked forward to learning of the love that would come with it. Little did I know I was in for a real treat…

In the summer of 2021 we found out we were pregnant after many hopeful months of trying. We sat on our front porch and I gifted Eric a pair of tiny baby Nike shoes (a Fowler family staple). The smile on his face was ear to ear and we embraced and talked so highly of what was to come. 

Our pregnancy began as quite uneventful. I conned Eric into some late night trips to 7/11 for snacks, we told all our family and celebrated with sparkling apple cider and lots of hugs. My parents would have their first grandchild and my brothers their first niece or nephew. Our excitement was obvious and I couldn’t wait to tell the world. 

At my first doctors appointment it was recommended I do a genetic blood test (also known as a NIPT) once I reached 12 weeks. It seemed like a routine test and I didn’t think much of it so I nodded my head yes and moved on with my day. 

A few weeks later I received a notification on my phone that my test results were in. I casually opened my patient portal prior to leaving for work and the first thing I saw was “boy” in tiny black letters. Boy?! They didn’t even tell me the test was going to tell me the sex! My heart skipped a beat. How exciting it was. A baby boy! 

I was about to pick up the phone to tell Eric when I saw some red writing as I continued to scroll down the results - the word “positive” next to the words Down syndrome. It took me a minute to process what I was reading as it was very unexpected. I called my doctor and the office staff told me she would call me back later. My uncertainty grew as I called out of work and drove directly to Eric so we could try to understand this news together. 

Nothing seemed definite at the time. The doctor hadn’t even called. They couldn’t give that news through an app on my phone right? Surely someone would’ve called me directly or asked me to hold off on looking at the results until I spoke with a doctor. As I look back on it now I wish I could’ve hugged that scared girl and told her just what kind of light was on the way. 

As a physical therapist I had learned about Down syndrome in school. I was familiar with it and always felt a connection to the community. I had volunteered at multiple Special Olympics events and was blessed to have had many interactions with children and adults with Down syndrome. They exuded such a confidence and beauty that I longed for in myself. If we were to have a son with Down syndrome, I would feel lucky and honored. 

Eric and I sat on our back porch that night when the doctor finally called…12 hours after I initially read the results. On speaker phone she said “there’s a 99% chance your son has Down syndrome.” And between the blurs came “if you’d like to continue with the pregnancy we can talk next steps”. I stopped in my tracks. This baby is ours. Down syndrome or not, healthy or sick, happy or sad, he’s our boy already. There was no question in our minds. Eric said it best, “he’s going to be the coolest most loved baby boy”. Man oh man was he right. 

We received a lot of feedback from family and friends as we began spreading the news. My personal favorite might be my Aunt Carol saying “yeah…and?” Or my mom immediately going into protective Nana mode. Or my dad not hesitating to say “our boy will be fine”. Our boy. He would be ours. The one thing we always knew we wanted was going to be here in just a few short months and the joy we were about to feel was unlike anything we could’ve imagined. 

Ellis came into the world on February 9th, 2022 and any fear or doubt was far gone. His beautiful almond eyes with a special right sided squint, his little belly, and his button nose. Our boy was here and the love I wondered about earlier was so much more than I ever could’ve tried to understand. He has brought absolute joy to our lives and those around us. His belly laugh could make anyone’s day and his little wiggly army crawl as he flies across the kitchen floor will leave you belly laughing yourself. Every month brings a new skill, every day a fresh start, and every year goes by way too fast. 

Ellis inspired me to improve myself in many ways. He has pushed me to be a better mom, a more understanding and loving wife (hopefully Eric would agree), and even to make changes in my career. I began working at Children’s Specialized Hospital only 6 months after he was born and with that I’ve been able to understand my patients and families through a different lens. With Ellis came a new kind of empathy and compassion that I hadn’t harnessed before; a fierceness for advocacy that I otherwise wouldn’t have truly understood. Ellis has also brought so much joy to the lives of his own physical, occupational, and speech therapists. It has been so fun to be on the other side of therapy, something I am so passionate about.

Ellis just turned two and with that I have spent so much time reflecting. They say parents of children with Down Syndrome are the lucky few. I couldn’t agree more. We have been lucky enough to watch him reach his milestones in his own unique way, we’ve gotten many more months out of each cute baby outfit we purchased, and we got to enjoy more time in each stage than your average parents. He’s just like any other kid though. He cries when the food is gone, he smiles and reaches for us when we walk in the door after a long day, and he lets the dog lick his face much more than either of us would like. We have made a promise to provide him with the tools to make this life what HE wants it to be. We feel lucky to know him and lucky to love him. While we know we’ve only just scratched the surface of what he’s going to teach us, we feel proud of the kind, sassy, loving boy he already is. Our boy. 

@ellisbellyboy on Instagram for fun Ellis content!