Trisomy 18 Awareness by Emma Springer

My name is Emma Springer, and at just 23 years old my life was forever changed when I became a mom for the first time, to a precious girl named Sage Elyse, who was diagnosed with Trisomy 18 prenatally.

You’re not alone if you haven’t heard of Trisomy 18. Most people have not. Although I had heard the words trisomy 18 before (just once, as a nursing student a year before becoming pregnant with Sage), I knew almost nothing about the diagnosis..and the things I thought I knew I have since learned were false. Trisomy 18, also called Edwards Syndrome, is a genetic condition in which there is an extra copy of the 18th chromosome. This is the second most common trisomy, affecting about 1 in 2,500-5,000 pregnancies, behind Trisomy 21 which you have most likely heard of - Down Syndrome! March is Trisomy Awareness Month because as the third month of the year, it represents the set of 3 chromosomes (trisomy) and each day represents a different affected chromosome. 3/18 is Trisomy 18 day because there are 3 18s! 

Our Story 

During my pregnancy with Sage, we learned that she had heart defects, which affect about 90% of people with T18. Despite having already made arrangements with the children’s hospital local to our home in Fort Worth to transfer all of our care and plan for a heart surgery before we could ever safely take her home…we were shocked at 32 weeks to find out that due to her diagnosis of Trisomy 18, they no longer were offering her any life-saving medical intervention. Our only choice was to take her home on hospice, if she survived birth, with a life expectancy of 24-72 hours.

For most of its history, Trisomy 18 was described (falsely) as ‘incompatible with life’. While T18 is a life-limiting condition due to the medical complexities it often causes, this inaccurate notion has been incredibly harmful to many families, including our own.  We trusted our medical team and had confidence that they were following the most accurate data and evidence, and that if they did not recommend any life-saving support (including heart surgery), that was the best decision even if it was heartbreaking. However, we had no idea that a vicious self-fulfilling prophecy was in place - necessary medical care is denied because ‘these babies don’t live’, and then the child does not live because the necessary medical care was denied.

When Sage lived beyond their expectations, we returned to see the doctors, who continued to deny her the life-saving heart repair and airway support that she desperately needed. Racing against the clock and praying that God would carry us to help her survive each minute that her care was denied, we became determined to find care elsewhere. We had been inaccurately told that providing medical care would cause her only to suffer, but it was clear to us that not having the support she needed was the cause of her suffering. 

At 3 months old God opened a door for us and we took Sage 200 miles from home to Austin, TX where she underwent a repair of her heart defects and received a tracheostomy for airway support throughout a 2.5 month hospitalization. My husband Hayden and I lived in a Ronald McDonald House just a short walk away from the hospital. I have so much love and gratitude for this team, as without their support for Sage she could have truly passed away any minute. 

After her repair and trach, Sage flourished. She started in her therapies at Beelieve where she would eventually learn to hold her head up, roll over, sit, reach for objects, hold things and bring them to her mouth, press switch buttons to activate toys, use her eyes to communicate and so much more. All of these things we were told she would never do. 

Sage flew on an airplane, was a flower girl in her aunt’s wedding, went on road trips, spectated golf tournaments, became a big sister, met her cousins, enjoyed summertime swimming, visited the zoo, watched her favorite cartoons and so much more. Sage Elyse Springer went to be with her creator at 3 years, 1 month, and 12 days old. Although her life was short, it was so full. Full of love, full of joy, full of friendship. Sage loved her life, and she was (and still is!) so loved by every single person who had the privilege to know her. 

Her smile lit up any room she was in and she always had a stylish outfit with matching hair bows and shoes to boot. It was the privilege of a lifetime to be her mama and steward her precious life for the time we got to share with her here on earth.

Extra to Love

In 2021, we founded an organization called Extra To Love (formerly Springer Family Foundation) and sought to support families just like ours. Extra To Love serves families of people with trisomy 18 or trisomy 13 by providing Diagnosis Hope Boxes to prepare families for their child to live, financial assistance with traveling for fair care, adaptive aids, therapies, and more! Our podcast Extra To Love: A Trisomy Podcast where we share firsthand accounts from trisomy parents and more, and Remembrance Boxes for those who are bereaved. If you’d like to learn more, please visit extratolove.org!

Please join me in celebrating all of the amazing people who have Trisomy 18 on 3/18, Trisomy 18 Day by wearing blue! We look forward to seeing a world that sees more than the diagnosis. You can follow along with my journey of life with joy and grief as I continue to carry Sage’s light and legacy on Instagram @emmakatespringer and learn more about supporting the trisomy community @extratolove 

On 3/18 wear blue and tell everyone you know that extra chromosomes are Extra To Love!