Woman recovering from rare muscle-wasting disease fears it will return

((C) 2015 Marco Venturini Autieri)

A woman struck by a rare, debilitating disease lives in fear that the muscle-wasting illness will come back and erase the progress that she has made. Samantha Evans, 21, first noticed an issue in her hands while playing softball in eighth grade, Cosmopolitan reported. She had stretched her hand to open her glove, but nothing happened.

“I didn’t know why it wasn’t working,” Evans told the magazine. “At first my mom thought it was the way I was holding my Razr flip phone.”

Her mother made an appointment with a neurologist near their Monroe, Louisiana, home, where she underwent an electromyogram to record the activity of her muscles. The test was inconclusive, as was an MRI, an EKG, an echocardiogram, a Lyme disease test and a multiple sclerosis test, Cosmopolitan reported.

“The neurologist told me he’d never seen this before,” Evans told the magazine. “It was terrifying to hear that at 14.”

Gradually she lost the ability to hold a pencil, and her muscles withered so that her hands were locked in a fist. Her feet shrank several sizes and she had to use a special pole to button her pants, the magazine reported.

“Doctors told me I’d be in a wheelchair by the high school graduation. One nurse even said, ‘You’re going to be crippled for the rest of your life,” she said.

During this time Evans and her mother visited specialists all over the southeast looking for answers. Each doctor remained stumped. It took two years of symptoms before she visited a neurologist in Jackson, Miss., who finally provided answers, Cosmopolitan reported.

The doctor landed on monomelic amyotrophy, which is characterized by progressive loss of the nerve cells in the brain and spinal cord that are responsible for controlling the muscles in the limbs. It typically only occurs in one limb and is prevalent in Asian men between ages 15 and 25.

“The onset is insidious over months or years without any history of antecedent trauma or infection,” Kevin Talbot, an Oxford neurologist, told Cosmopolitan. “While not obviously treatable, the chief benefit in making the diagnosis is in allaying fears of a much more malignant neurological disorder.”

The condition stabilizes after one to four years, so by the time Evans was diagnosed the muscle wasting symptoms had plateaued, the magazine reported. She continued with her physical and occupational therapy to rebuild her muscles and restore fine motor skills. Evans was given special shoes to correct her feet and by junior year of high school, she had mostly recovered.

“If I’m writing by pen longer than 20 minutes, my hand cramps,” Evans told Cosmopolitan. “If I run, my feet start cramping. Besides that, nothing. I walk normally now.”

Evans told the magazine she continues with her exercises out of fear that if she stops, the disease will return.

“It was a real medical mystery,” she said. “I don’t know how else to explain it, and I probably will never know. I just hope it doesn’t happen again.”