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.

website-8699

Few and Far Between

Few and Far Between

Few and Far Between

Few and Far Between

Few and Far Between

website-8699

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.

 

“Eight!”

 

“Two,” Spicer says. She lays down the flashcard. “That’s a good try.”

Few and Far Between

Few and Far Between

Few and Far Between

Few and Far Between

Few and Far Between

Few and Far Between

Matthew Chappell settles on the couch in the family’s living room and cracks open up his laptop. Outside, a few flakes of snow have begun to fall languidly onto the back deck of their home in Fairfax, Va.

 

“Another family contacted us,” Chappell says.

 

He pulls up Facebook and opens a page titled Sjogren-Larsson Syndrome Network (SLS). Chappell started the page in 2011 to provide a hub for those who might be looking on Facebook for others with the syndrome.

 

This new family, living in Pennsylvania, has a son around Mia’s age. Chappell gave them the number of a geneticist researching Sjögren-Larsson Syndrome in Omaha, Nebraska. He also gave the family his own phone number.

 

“Because there’s not a big population out there with the syndrome,” Chappell says, “Then when you find families, they’re more important than doctors who may not have encountered it.”

 

The Chappells now know five families who have a child with the condition, a number that has doubled in the two years since Mia’s diagnosis.

 

The first message posted on the Facebook page in February 2011 reads:

 

This is a new page I’ve created in the absence of one. If you have found it, you were looking. I am hoping to connect the few of you out there who could help support one another. You are not alone.

 



Few and Far Between

Few and Far Between

Few and Far Between

Sjogren-Larsson Syndrome is one of 6,000 rare diseases. Many of these have trouble attracting attention, let alone research funding. But a thousand miles away from where Mia lives in Virginia, research is being done on Sjögren-Larsson Syndrome.

 

 

 Click to Continue Story…