Justin Upton

Emanuel Syndrome Awareness

Our sweet Evyn Grace Upton was born on May 31, 2019. She was tiny in size, but oh so mighty. Her first year of life was far from easy. Our journey began at her two-week checkup, where the doctor noticed a few things were not as they should’ve been. From there we were sent off to several specialists, and over the next few months, she was diagnosed with a slew of health problems. I quickly learned that I had to be her advocate and push for answers. After countless visits to the hospital, we finally saw a geneticist, who gave her the ultimate diagnosis of Emanuel Syndrome. We had never heard of it before, and shockingly the doctors did not know much about it either. We were given very few resources, and the ones we did receive were out of date. Emanuel Syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Those diagnosed with ES have the presence of an extra small chromosome made up of pieces 11 & 22. Upon diagnosis, what hurt us the most was the idea that our baby may never walk, never talk, and most importantly never feel happiness. That is the grim picture that the literature paints. However, it couldn’t be farther from the truth. While so many kids with ES are significantly delayed and have several obstacles to overcome, they are a daily reminder of love and strength. With so many health problems related to ES, it can be a huge burden on families. Since most kids with this diagnosis have low muscle tone it greatly affects their ability to walk, eat, and talk, as well as many other things. Each one of these requires different therapies and tools. Going through insurance can be a long, grueling process. This often forces families to pay for things they immediately need out of pocket, or worse, watch their child struggle without them. Since ES is relatively unknown to most, there aren’t many resources families can turn to when in need of help. Emanuel Syndrome Day means many things for us. It signifies love, courage, bravery, and most of all, HOPE! My goal with this 5K is to make a direct impact on families with ES children. All the money raised will go straight to ES families in need this holiday season. My goal is to keep building awareness for ES and eventually be a catalyst for life-enhancing research. We ask that you wear purple and/or blue during your race as well as on Emanuel Syndrome Day 11/22 to show your support. We’d also love for you to post pictures and tag us (@jupton8 & @ashley0021) to help raise awareness. Suggested Hashtags: #emanuelsyndrome, #emanuelsyndromeawareness, #emanuelsyndromeawarenessday