On a rainy Tuesday morning, Mia is sitting at her desk at school, legs dangling a foot above the ground. She is in a special education class, with seven other children, ranging from five-years-old to twelve-years-old.
“Mia, what is this?” Mary Spicer, Mia’s teacher, asks, pointing to a flashcard in her hand.
“Sev-en,” Mia says, her voice a tiny whisper.
“Not seven, try again.”
“Zero,” Mia says.
“Not zero. One–” Spicer’s voice is cheerful, encouraging.
“Two,” Spicer says. She lays down the flashcard. “That’s a good try.”
After meeting with a list of specialists and a geneticist, the Chappells tested for two possible diseases. And then they waited.
“Neither was going to be good for Mia,” Yesenia Chappell said.
Positive. At three-years-old, Mia was diagnosed with Sjögren-Larsson Syndrome. It’s a syndrome so rare doctors don’t know what the incidence is.
“We finally understood what was happening with her,” Chappell said. “Sometimes you think…why doesn’t she learn, why can she not do this or that…it was the syndrome.”
For Mia, the disorder is expressed in three ways: mental impairment, ichthyosis, and tightness in her leg muscles that restricts her ability to walk.
From afar, Mia’s skin is hardly noticeable. But up close the scaled patches edge into a shade of brown, collecting most heavily at the joints: neck, knees, arms, and hips.
By now, the Chappells have figured out what works for her skin. They wash her once to remove the previous day’s layer of lotion, twice to loosen up the skin, and a third time to scrub off the dead skin. For every person with ichthyosis, this routine is different: some use over-the-counter lotions, others soak in the bathtub daily, and some use expensive off-label moisturizers. The regimens are as individual as the person.
No one can predict how Mia will progress as she gets older. Right now, she is around two years behind the mental progression of other children her age.
But Mia’s ability to walk, even with the aid of her walker or leg braces, is remarkable. The Chappells know of another family with a son who can’t walk at all.