Raising Emelyn Grace: Facial dysmorphisms = beautiful!

It was December 5, 2013 - Emelyn was nine months old. It was our first meeting with a developmental pediatrician. I had no idea what to expect, but our pediatrician had told us Dr. Pineda would be very warm and kind. After nearly two hour of questions and evaluations, Dr. Pineda closed her laptop and began sharing her thoughts with us. She was indeed warm and kind, but her words still stung. She wasn’t telling us anything we didn’t already know, and therefore, she was confirming our fears. Terms like significantly delayed, medically complex, movement disorder, a number of possible syndromes, and more came from her mouth. Then, at the end, she said something to the effect of, “And you’re going to see a term in the notes that says facial dysmorphisms and I want to explain. Emelyn is a beautiful child, but she does have facial features that could indicate a syndrome…something genetic in nature. I just don’t want you to see that and think the worst or that your child isn’t beautiful, because she is.” For days following the appointment I remember looking at Emelyn and seeing nothing more than a beautiful little girl. Yes, her ears are slightly asymmetrical and her forehead is a bit prominent, but I wouldn’t call them dysmorphic. That sounds so ugly – like she’s disfigured. I’m grateful, however, to Dr. Pineda for easing us into the term that day. To be honest, I didn’t think much about Emelyn’s facial features as we moved past those early appointments. Other doctors would note facial dysmorphisms in their notes and I wouldn’t dwell on it, it was their job to document their medical findings.

Then, on September 16 of this year, we laid eyes on the other girls with DDX3X for the very first time. Patrick and I both looked through the tiny thumbnail pictures in the study sent to us by the genetic counselor and were amazed at how many of the girls resembled Emelyn. Then, that night we connected with other families on Facebook and began seeing family portraits, candid shots, and school photos of the other girls sharing Emelyn’s diagnosis. While our girls do have similar facial features, they also share similar smiles, expressions, and laughs. Other parents post pictures frequently of their daughter’s and I see our Emelyn in their daughter’s faces. They’re all so very beautiful and their smiles are filled with the same happiness as our Emelyn. It’s nothing short of amazing. With permission from some of the DDX3X parents, I’m sharing some of the other young ladies also diagnosed with DDX3X below. I know you’ll agree, our daughter’s share beautiful faces and endearing smiles!