Mia Chappell carefully peels off her blue socks and passes each to her mother, who places them beside her on the examination table. The doctor comes into the room carrying a bucket, a two foot long piece of tubing, and a handful of gauze. She sits slowly onto a stool in front of Mia, takes her leg, and pushes up her brown leggings. Mia, 5, starts to cry.
The doctor pauses, pointing at the slightly red, scaly skin on Mia’s leg. “Is this caused by her braces?”
Mia is pushing back against her mother’s chest, recoiling her legs. She cries louder, as Yesenia Chappell fights to keep her still. This is the first time they have seen this doctor at the Orthotic Prosthetic Center, in Fairfax, Va.
“No, no, it’s just a skin condition she has,” Chappell says quickly, wrapping her arms tighter around her squirming daughter.
The doctor nods and grasps Mia’s leg. She pulls a gauze stocking up to the knee, and then Mia screams.
The procedure to cast new leg braces lasts about 20 minutes. The doctor hands Mia a box of patterns and a ring of color swatches to choose from before she leaves the room to write up the order. Mia’s hands gravitate toward mottled pink and white padding, and then purple and pink velcro straps.
“Oh Mia, that’s so girly,” Chappell says.
She shakes her head and laughs, sifting through the box for other patterns. But Mia prefers pink. Colors have been easier for Mia to learn, but not simple. Nothing has been simple to learn, especially abstract concepts like time and numbers.
When Mia was born, it was obvious something was wrong. Her newborn skin had a whitish, waxy membrane, something doctors recognized as an early indication of ichthyosis, a rare genetic condition that causes dry, scaly skin. But ichthyosis wasn’t the only concern. After failing an initial infant hearing test, Mia’s parents were first given a diagnosis for an extremely rare disease that would cause Mia to lose her eyesight and hearing as she got older. Several months later, Mia passed the hearing test, and the diagnosis was retracted. But no one could tell Matthew and Yesenia Chappell exactly what their daughter had.
At age two, Mia began showing other signs: she wasn’t vocalizing beyond one-syllable sounds and she couldn’t stand.
“She never wanted to do tummy-time,” her father said.
The Chappells sought out a neurologist, a dermatologist, a developmental pediatrician, and lastly, under recommendation from a specialist, a geneticist. They knew their daughter had ichthyosis; they were prepared for the lifelong skin care that comes with the disorder, but these other signs where different from simply a skin condition.