In many ways, Emelyn’s just like any other six year old. She loves kindergarten, the school bus, and all of her friends and teachers. She’s in heaven with a good book, an ice cream cone, and an upbeat dance song. There’s no place she’d rather be than church, the swimming pool, or on a tractor. And yet, she’s also rare—one of only 400 known individuals in the world with a “misspelled” DDX3X gene. This one small change in a single gene makes ordinary tasks, like walking, talking, and learning, a significant challenge. For the first year of her life, when other infants were learning to crawl, walk, and talk—I kept wondering when she’d finally be able to hold her head up. When those same babies were turning two—running, jumping, and speaking in full sentences—I kept wondering when our two year old would finally be able to sit up independently. Those early years, when her development was painfully slow, I wondered if she’d always be so far behind her peers. And now, here we are, Emelyn’s in a typical kindergarten class learning beside typical peers. Yes, there is still a gap—she’s completely nonverbal, far from steady on her feet, and learning at a different pace, but everyday we see this kid grow and blossom. She has worked so hard and so has her village of supporters. It has taken so many people to get us to this point—therapists, teachers, aides, school administrators, grandparents, aunts, uncles, care providers, church family, case workers, nurses, doctors, prayer warriors, sisters, friends, other DDX3X families, researchers, and so many more. On this Rare Disease Day, our family celebrates each of you for the significant roles you’ve played in giving Emelyn the very best shot at reaching her full potential. And for Emelyn’s part, she certainly knows how to reward us with the brightest smiles, contagious giggles, and best hugs. Emelyn Grace—thanks for changing our world for the better, for opening our eyes to true happiness, and for allowing us to learn from you. We love you and can’t wait to see all you accomplish.
To learn more about Emelyn’s rare syndrome, visit ddx3x.org and follow our Facebook page: https://m.facebook.com/ddx3xfoundation