Sarcoidosis: The Debilitating Disease You've Probably Never Heard Of

Featured Article, Respiratory Health
on November 9, 2015
Stressed woman

Kim Scott has good days and bad days. On her good days, she is able to write, do needlework and go to the market. On her bad days, running to the door exhausts her air supply, taking her five to ten minutes to recover, and going to the market can feel like she’s just run a marathon. She can’t even talk on the phone because she doesn’t have enough air. “It feels like my lungs are solid,” she said. “This disease messes with you.”

She thought she just had really bad allergies. The 53-year-old author was living in Michigan and working full-time when she developed respiratory problems that kept landing her in the emergency room. Thinking back, she believes this was the beginning of her long journey with sarcoidosis – an inflammatory disease that can affect multiple organs in the body – and she was having sarcoidosis flare ups.

After she was laid off in 2009, Scott moved home to Maine, where her symptoms progressively worsened. “My doctors kept treating me for one thing after another,” she said. She hadn’t realized how bad it was getting until the spring of 2010 when her mother took her to the doctor because she was coughing so much and she was diagnosed with a respiratory infection and asthma. “By that point, I was having trouble breathing.” Her doctor sent her to the emergency room.

“I just thought it was my crazy allergies and it was no big deal,” she continued. In the emergency room, they took chest x-rays. “The ER doctor walked in and said he was really worried,” she remembers. “He told me there was a lacy effect over my lungs.” There were also crystals growing throughout her lungs, which no one has ever seen nor knows the cause of.

Her immediate thought was: “What if it’s cancer?” Her dad had died of cancer in 2001. “What’s as serious as cancer?”

After four days in the hospital, Scott’s doctors still didn’t have a diagnosis and sent her to Chest Medicine Associates in South Portland, where she underwent a thoracotomy—a surgical procedure where surgeons removed a wedge-shaped piece of lung for biopsy. “When I returned for my follow-up, my thoracic surgeon told me, ‘I believe you have sarcoidosis.’” He referred her to pulmonologist Dr. Katherine Black, a specialist in diagnosing and treating sarcoidosis, at Massachusetts General.

A rare disease that very little is known about, some reports estimate sarcoidosis affects one million individuals worldwide. It is estimated that four in 10,000 people in the United States have it, and most of the current research is coming out of India, where the disease is prevalent.

Sarcoidosis usually develops in adults between the ages of 20 and 40, and is more common in women. It is most prevalent in people of African American and Northern European descent. People with a family history of sarcoidosis are at higher risk for developing the disease, and Scott knows that a cousin on her father’s side was diagnosed with it.

The disease usually starts in the lungs, skin or lymph nodes but it can affect the eyes, liver, heart and brain. Symptoms vary based on which organs are involved, but the most common are a persistent dry cough, fatigue and shortness of breath. Once the disease destroys one organ, it migrates to surrounding organs. Scott undergoes annual procedures to ensure her disease hasn’t migrated to other organs. Her biggest fear is that will move to her brain.

The exact cause of sarcoidosis is unknown. The immune system, which protects your body against germs, sends specialized cells to seek out and destroy the foreign invaders, and inflammation occurs during this process. Normally, the inflammation goes away and the cells die. In people with sarcoidosis, however, some of the cells form clusters called granulomas in various organs, primarily the lungs and lymph nodes.

In most people, sarcoidosis causes few, if any, long-term problems, and individuals recover from it without treatment. About one-third suffer organ damage. It is rarely fatal. However, in individuals with advanced sarcoidosis, poorer outcomes are more likely and individuals die from contributing factors – colds, flu or pneumonia – that their immune system can’t fight off.

“It’s really hard to treat more advanced cases,” Scott said. Following her diagnosis with advanced sarcoidosis in 2011, she now sees a pulmonologist at Chest Medicine Associates. She still finds it difficult to grasp that she has something no one else she knows has and reflects that if it had been caught earlier her life would be different.

She’s also frustrated that she can no longer do the things she used to do. “My life has become more limited,” she said, adding that on her worst days she feels so sluggish she can’t get anything done and spends the entire day fighting to stay awake. People don’t understand her limitations and she has stopped trying to explain.

Scott can’t get out as much as she used to and it’s hard. She can no longer go out to dinner or to the movies because she can’t be around large crowds because of her compromised immune system. Heat and humidity bother her. “I’m by myself a lot more,” she said, but credits her wonderful support network of family and friends for being there when she needs them. But she worries about the toll the disease is taking on her family.

There are too many days where she can’t focus and finds it difficult to write. It’s hard for her to keep things on track, and for her that’s not an option. There is a limit to the number of days she has left and she wants to make every day count. It’s frustrating when she loses a day to this disease.

“Life isn’t supposed to work this way,” she said, but she tries not to complain because she knows there are people out there who are worse off than she is. She has osteoporosis from the steroids and is starting to see signs of clubbing in her hands. Her doctors think she is showing signs of tracheomalacia, a condition where the cartilage surrounding the trachea softens and collapses, because she has extreme pain in her upper chest and throat when she exerts herself. “I want my old life back.”

Scott takes eight different medications. In November, she sees specialists at the Shapiro Center at Boston Medical to discuss the next step but she knows she’s running out of treatment options. Her doctors have had her on Humira, a drug that suppresses the immune system, but they want to switch her to an alternative medication to try to reduce the number of steroids she takes. There are days she’s had enough, but she knows she can’t surrender.

“I know the reality of this disease,” she said. “It is what it is and there’s nothing I can do about it. It’s pointless to worry about it.”

For more information about sarcoidosis, visit the Foundation for Sarcoidosis Research.