Aug. 17, 2008— -- For Andrea Wilson of Chicago, Valentine's Day 1994 marked the end of an eight-year search to identify the mystery disease that had turned her life into a living hell -- a daily routine of pain, fatigue and seemingly unconnected symptoms.
"I'd been consistently misdiagnosed for eight years," she recalls. "I was told it was multiple sclerosis. I was told it was a brain tumor. I was told it was just stress -- that I was freaking out, that it was nothing."
But it was only when a chest X-ray revealed massive scarring in her lungs that doctors determined that she suffered from sarcoidosis -- a condition in which the body's immune system triggers uncontrolled inflammation, wreaking havoc on internal organs.
Wilson, like most others with sarcoidosis, experienced particularly severe inflammation in her lungs. But even then, medical professionals hesitated to believe Wilson could have suffered the degree of damage the X-ray showed.
"I was sitting next to an old man in the doctor's waiting room," Wilson says. "The radiologist came out, looked at me and looked at the other guy, and said, 'I've mixed up these scans.'
"He thought my scans looked like an 80-year-old's scans."
Since her diagnosis, Wilson, now 43, has been waging a battle on two fronts. There is her personal struggle to control her disease, for which there is no cure. And there is the larger effort to increase awareness of the illness. In 2000, she and her husband established the Foundation for Sarcoidosis Research to that end.
But the disease has perhaps gotten the most attention from the untimely death of actor-comedian Bernie Mac last week. Mac battled the illness, which had plagued him with lung problems, for 25 years before he died Aug. 9, at the age of 50.
Mac's publicist has said it was pneumonia, not sarcoidosis, that led to Mac's death. But those with sarcoidosis have a known predisposition to pneumonia. And the loss resonated among those in the sarcoidosis community.
"Honestly, it just really sort of took my breath away," Wilson says. "It made me feel sick to my stomach."
Dr. David Moller, director of the Johns Hopkins University Sarcoidosis Clinic in Baltimore, says that while he has no details about Mac's medical condition, it is possible that the condition was linked to his death.
"A 50-year-old does not generally die from pneumonia," Moller says. "It is known that sarcoidosis can increase someone's risk for developing pneumonia."
This additional risk can linger, even when the signs of the condition are not apparent.
"Even if a patient is undergoing remission in sarcoidosis ... sarcoidosis-related inflammation can be associated with scarring fibrosis," Moller says. "With significant fibrosis, that can hinder the lungs' ability to fight an infection. But whether or not sarcoidosis was involved, I have no idea."
Another part of the problem is that doctors often use immunosuppressive drugs to treat sarcoidosis. While this approach helps control the inappropriate immune response, it also lowers the body's defenses against actual threats.
"It's a disease whose numbers are underestimated in this country," says Debbie Durrer, executive director of the Foundation for Sarcoidosis Research.
Indeed, Hopkins' Moller points out, the disease can be difficult to diagnose, as it can affect a range of organs and manifest itself in different ways.
"What I tell patients is that sarcoidosis is an inflammatory disease that affects different people in different ways," Moller says. "We don't know what triggers this inflammation, and it can occur in a number of areas in the body."
The symptoms of sarcoidosis -- symptoms such as fever, rash, fatigue and breathing problems -- are also shared by a number of other diseases.
"These are symptoms that are often dismissed by doctors as not important," Durrer says. "And they can be interpreted by family members as somebody who is just complaining. This can really impact quality of life."
The numbers may be further skewed because, in the United States, the disease primarily affects African-Americans, who, past research shows, are less likely than other racial groups to get appropriate medical treatment and care.
And, despite the lack of awareness of the condition, Durrer estimates about one in 2,000 people in the United States is living with a sarcoidosis diagnosis -- although Moller says that it's widely recognized in medical circles that sarcoidosis is underdiagnosed.
"Most people have not heard of sarcoidosis until they are actually diagnosed with it, so it can be very isolating," Durrer says.
Research continues to uncover clues about the origins of the disease. Moller says that the development of sarcoidosis in a given individual is probably contingent on two factors. One is a genetic susceptibility to the condition. The other is a trigger, which may be linked to bacterial infection.
"I think the scientific evidence has been increasing to the point that most physicians who do research in sarcoidosis believe that it is triggered by infectious agents in patients who are genetically susceptible," he notes.
Still, the exact cause continues to elude researchers.
"That's a tough pill for a patient to swallow when you can't tell them what caused their disease," Durrer says.
People with sarcoidosis may also have to wait for an effective cure, although treatments to control the disease are available.
Wilson is on a special regimen of immunosuppressive drugs to control inflammation, as well as "a whole host of painkillers every single day to get through the day."
The medicines are not without their side effects -- not the least of which is a weakened immune system, which makes her susceptible to pneumonia and other infections.
"I have to wear a mask when I travel, and when I am in crowded areas, I wear a mask," she says. "I'm sure I scare people half to death. 'What I have you can't get' is what I say to them. ... Keeping a sense of humor intact is key."
Wilson also says she imagines that Mac may have also used his famous humor to fight his condition with a daily dose of hope. And Moller remains optimistic that Mac's battle with sarcoidosis will also bolster hope in the many who live with the disease.
"One of the reasons that many of us are willing to provide information is that sarcoidosis is not a rare disease," he says. "I think there is a lack of public awareness of this disease, and that's something that perhaps the medical community would benefit from, having awareness raised ... so tragic outcomes like this may be prevented."
For more information about sarcoidosis, visit the Web site of the Foundation for Sarcoidosis Research at www.stopsarcoidosis.org/.