30 FEBRUARY 2025 Through all of the struggles and uncertainties, Evyn has made one thing clear: her journey toward growth is just beginning. “She has brought immeasurable joy to our lives – joy we could never have imagined before her diagnosis. She has changed us in ways we will forever be grateful for,” Ashley said. “Despite the difficulties, she brings a light into our lives that brightens even the darkest days.” By Mallory Gleich In January 2020, Ashley and Justin Upton’s worlds changed forever when they received a phone call that would define the course of their daughter’s life. The family – who had already been through numerous medical evaluations, with both them and the doctors unsure what was going on – had been awaiting the call that would confirm Evyn’s diagnosis: Emanuel Syndrome, a rare chromosomal disorder that affects multiple systems in the body. While the diagnosis was daunting, it became the starting point for a future that would test the family’s resilience and hope. The five-year-old’s medical journey began during her two-week checkup, when doctors discovered a heart murmur. At her first cardiologist appointment, she was diagnosed with two heart conditions: P a t e n t D u c t u s Arteriosus (PDA) and Patent Foramen Ovale (PFO). PDA is a condition in which a blood vessel connecting the pulmonary artery to the aorta remains open after birth. PFO is an opening in the heart’s septum that typically closes after birth but in this case, remained open. A referral to an ENT specialist revealed that she had severe laryngomalacia, a condition in which the soft tissues in the larynx partially block the airway, making feeding, breathing, and sleeping a struggle. “She also faced significant skin issues, needed ear tubes, and experienced low muscle tone. Every day brought new obstacles to overcome, and each moment became a learning experience,” Ashley said. Evyn’s official diagnosis of Emanuel Syndrome came when she was eight months old. This chromosomal disorder occurs when a small “derivative” chromosome, made up of parts of chromosomes 11 and 22, is present. “As a balanced carrier of the condition, I had no symptoms myself, but Evyn inherited this extra chromosome, resulting in physical delays, including difficulty walking and non- verbal communication,” Ashley said. Through it all, her and Justin’s family’s support never wavered. Friends and relatives helped with childcare for their oldest daughter, provided emotional encouragement, and accompanied them to continuous appointments. “There was a period of denial for all of us, but ultimately, we united as a family to face the challenges ahead,” Ashley said. “The first year and a half was incredibly difficult.” Most days were spent attending doctor appointments and specialist visits, enduring hospital stays, or going to therapy sessions for physical, occupational, speech, and feeding needs. Adding to the difficulty was the pandemic, which made everything more isolated and uncertain. The family’s greatest fear was that Evyn might contract the virus, and with her fragile health, they worried about the future. She missed out on seeing and playing with other children and it wasn’t until she was 3.5 years old that she could finally start interacting. Throughout this time, the couple researched everything they could about Emanuel Syndrome and rare diseases – and that’s when they discovered the PANDA community. “If someone had told me we would be where we are today, I wouldn’t have believed them. The path has been long, but with the support of our family, incredible therapists, doctors, and the Emanuel Syndrome community, we have found our rhythm,” Ashley said. “Things are always changing, but the most important lesson I’ve learned is to trust my instincts, advocate fiercely for my daughter, and take life one day at a time.” Evyn is an early riser, so the family starts their day between 5 and 6 a.m. They spend time snuggling, reading books or listening to music. “We have a jam session on the way to school, where she does full days, split between her SPED class and mainstream classroom for specials and reading time,” Ashley said. “She has developed quite the friend group in both classes. After school, she loves to come home and play with her siblings, Sydnee, Myles and Jaxon.” When Ashley and Justin told their baby girl she would be part of the upcoming PANDA Fashion Show in March, they said her reaction was priceless. “She smiled, her face lighting up with excitement, and did her signature ‘excited hands’ gesture,” Ashley said. “Sydnee is her biggest supporter and can’t wait to be on stage with her, celebrating pediatric medical research and the amazing people working to improve children’s lives.” A BRIGHT LIGHT IN THE DARKNESS How Evyn Upton is conquering Emanuel Syndrome PANDA’S UPCOMING EVENTS March 29 is PANDA’s 25th Anniversary - A Celebration of Children Helping Children Fashion Show, presented by Fox Restaurant Concepts. This year’s evening gala will have the signature fashion show, silent and live auctions and an after-party. April 27 is PANDA Lemonade Stand Day, a day when children across the Valley help turn lemons into lemonade by raising money for rare diseases. Visit the website for a full list of lemonade stand locations. azpanda.org Ashley, Jaxon, Sydnee, Evyn, Myles and Justin Upton. PHOTO COURTESY OF ASHLEY UPTON She has brought joy to our lives and changed us in ways we will forever be grateful for. Open Sun-Mon-Tues 11am-9p Wed-Thurs 11am-9:30pm Fri-Sat 11am-10pm • Dine in • Patio Ser vice • Sat-Sun Brunch menu with drink specials • Happy Hour Specials • Pickup Orders Try our full catering ser vice: 602-300-7133 Safety guidelines are being followed. Thanks for your support! 4144 E. Indian School Road | teepeemexicanfood.com | 602-956-0178 HAPPY VALENTINE , S DAY! ENJOY YOUR TEE PEE FAVORITES Christ Lutheran School Preschool - Grade 8 • www.clsphx.org LC-MS 3901 E. 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