Medical Mystery: Immune Disorder Often Misdiagnosed

March 29, 2007 — -- More than 50,000 Americans suffer from myositis, a painful, debilitating disorder that results from muscle swelling, but because it is so difficult to diagnose, many don't even know they have it.

Renee Parcover, Lashan Davis-Lanier and Tamara Urbina all had different symptoms and no answers. Each had seen doctor after doctor, but none offered any help.

"I told my husband I wanted to die," Parcover said. "I said, 'If this is how my life is going to be, I don't want to live.' It was so depressing."

Davis-Lanier felt similarly desperate.

"It was very difficult, because I couldn't work," she said. "I couldn't do anything with the baby."

The women had symptoms that could indicate many medical problems and were tough to pinpoint. The mystery was finally solved by Dr. Lisa Christopher-Stine, co-director of the Johns Hopkins Myositis Center, who, after extensive testing, made the correct diagnosis.

Each of these women had myositis, a rare autoimmune disease.

"I showed [Christopher-Stine] a picture of my family, and I said, 'This is the reason you have to make me well,'" Urbina said.

"It is one of those moments in a doctor's life where you really remember why you do what you do," Christopher-Stine said. "And I actually walked out of the room for a moment, told Tami I had to step out, had to compose myself because it was really so striking because that's a lot of responsibility that someone entrusts you with."

Because the symptoms are so varied and the disease is so rare, myositis is often misdiagnosed

"The story that I hear over and over again is 'I thought something was wrong,' or 'I knew something was wrong and nobody heard me,'" Christopher-Stine said.

The primary symptom of myositis is muscle weakness, normally starting in the shoulders and hips. It can affect the neck and throat muscles, making swallowing and speaking difficult. It can also lead to inflammation of the lungs, causing breathing problems.