What It’s Like to Have a Rare Disease Like Sarcoidosis
Key takeaways:
Jim Kuhn has pulmonary sarcoidosis, a rare disease that affects only about 27,000 people a year. There are fewer than 200,000 cases in the U.S. at any one time.
Sarcoidosis can cause clusters of inflamed tissue in the lungs, skin, and many other organs. The condition is painful and often leads to both fatigue and depression.
It is hard to find health professionals who can treat sarcoidosis, but most people with the condition can be treated with steroids. Jim is one of the few whose disease isn’t responding to treatment.
Jim Kuhn left behind six-figure jobs in the financial services and technology services to become a medical missionary in Central America.
Little did he know, a short time later, he’d be on a medical mission of his own — one that would challenge him for the rest of his life.
What began as a diagnosis of cancer turned out to be pulmonary sarcoidosis. The rare inflammatory disease strikes about 27,000 people a year. There are only about 150,000 to 200,000 people living with sarcoidosis in the U.S. at any time.
Unlike 80% of people with the disease, Jim’s sarcoidosis has not responded to treatment or gone into remission.
“This will cause my death,” he says. “Either the pulmonary sarcoidosis will cause pneumonia, or, because my immune system is always hyperactive and I have immune deficiency, I will catch something.”
“It sucks,” he says. “I hate my body. I hate what it’s done to me and to our lives.”
The long journey to a sarcoidosis diagnosis
Jim, who’s 64 and lives in Cincinnati, began his health journey at age 52, when he and his wife joined a nonprofit and began organizing free medical missions to Central America. On the missions, he experienced severe fatigue.
“It would take months to prepare for these clinics,” Jim says. “We would lead a team of 20 to 30 folks in these clinics, and sometimes they were in jungles. My wife and I were responsible for Central America, from Mexico down to Ecuador.”
Sometimes, they would spend 2 weeks in the jungle, in conditions that were 95℉ and 90% humidity.
“It was hard to recover from that to begin with,” Jim says. “But I found myself just always fatigued when we would get back to the states. And I couldn’t recover and get ready for the next clinic.”
His first diagnosis was rheumatoid arthritis. While that explained the pain in his joints, he was experiencing lung problems, too. So he pushed his doctors for an explanation for his shortness of breath.
Eventually, lung X-rays and CT scans revealed tumors and inflammation in his lymph nodes.
“They first thought I had lymphoma, which is often the first diagnosis people with pulmonary sarcoidosis get,” he says of the cancer that begins in the lymph system. “So I spent a year thinking I had lymphoma.”
Then, he woke with a golf-ball-sized tumor above his right eye. He had another below his lip and another under his left eye. The following day, one showed up on his arm.
Again, doctors thought it was lymphoma — until the tumors were biopsied.
“They said, ‘This isn’t cancer, it’s sarcoidosis,’” says Jim, who was 54 at the time. “So the first thing is a sigh of relief that, after all this time, 2-plus years, we have a diagnosis. But then, reality hits.
“The oncologist says, ‘Well, it’s not cancer, so I am done with you.’ The rheumatologist says, ‘I don't think that’s an autoimmune thing. It’s related to it but there’s really no treatment protocol for it.’ My primary care, who had been kind of waiting out in the wings, said, ‘You really need a specialist for that,’” he adds.
Sarcoidosis affects people differently. Find out what experts say about what to expect with the rare inflammatory disease.
Some people with sarcoidosis start off with Löfgren syndrome. Here’s an explainer about the condition, which tends to affect younger adults and is easier to diagnose.
Sarcoidosis can cause inflamed tissue in the lungs. Learn more about respiratory diseases that also affect the lungs and airways.
Sarcoidosis treatment is hard to find
After doing research, Jim found out that there weren’t many places in the country specializing in the rare disease. The only lucky part of his story is that one of the board members of his nonprofit knew a pulmonologist at the University of Cincinnati Medical Center who happened to specialize in treating sarcoidosis. The doctor agreed to see him and develop a treatment protocol.
“He’s no longer taking patients, but through this board member, since she knew him, I was able to get at least a consultation with him,” Jim says. “By that time, I was completely debilitated. I had a hard time breathing because of the inflammation in my chest and the lesions in my lungs. The fatigue was just overwhelming.”
As Jim points out, shortness of breath and fatigue are the two primary symptoms of pulmonary sarcoidosis. But his pulmonary sarcoidosis diagnosis was also followed by one for skin sarcoidosis.
“It’s also now advanced into my eyes and most recently into my nervous system, my brain, my bones, my muscles and, just last month, into my spleen,” Jim says. “So it’s an angry disease that can attack any organ in the body.”
Jim says most people who get sarcoidosis in the lungs can be treated with steroids, and the disease will go into remission. But he’s not one of those people.
“They’ll never see it again, or it will flare back up after 5 years. Those people are like 80% of the cases,” he says. “Another 10% will have constant sarcoidosis in their lungs and they’ll need to be treated all the time, typically with a steroid. The remaining 10% are people like me with multi-organ involvement. But I’m the rare case of 1 or 2% with multi-organ involvement that cannot be held in check.”
What life with sarcoidosis is like
For the last 6 years, Jim has been unable to work and now receives disability payments from the U.S. Social Security Administration. His daily life is filled with pain and fatigue.
“I wake up in the morning, and I’m already in pain. And it only gets worse through the day, so every joint hurts, every muscle hurts,” he says.
As Jim explains, sarcoidosis creates small granulomas, clusters of cells in the joints or organs, causing inflammation. In his case, the disease also causes neuropathy in his lower legs.
“As it gets later in the day, my legs from the hips down are on fire,” he says. “It just feels like my legs are plugged into an extension cord. There’s really nothing I can do to stop the pain. I am on the highest level of non-narcotic pain medication you can take, and it really doesn’t do anything.”
Jim says that the pain also leads to fatigue and depression.
“Even if I get a full night’s sleep, which is very unusual, I wake up fatigued. It’s very frustrating,” he says. “I also suffer from depression, which 60% of people with chronic illnesses [do]. It comes with the territory. When you have chronic pain and chronic fatigue, it just gets to you.”
The disease also hinders his ability to fight off illnesses.
“I’m always sick. Right now, I have some type of low-grade fever,” he says, explaining that he caught some type of sickness on a trip to visit his adult daughter in Florida. “But pneumonia is the biggest fear — and COVID. I lost a good friend last week, and we’ve watched them die one by one over the last 3 years to COVID.”
Jim says he’s tried multiple forms of treatment and nothing has worked. He recently stopped taking costly self-infusions of the biologic Humira, because he felt that the medication wasn’t working. In the past, he’s taken Remicade and Rinvoq — other biologics that target specific parts of the immune system.
“There is no FDA-approved treatment for sarcoidosis except for steroids,” Jim says. “And that’s the way it’s been since the 1970s.”
He takes gabapentin and Topamax every day to help with nerve pain. He also takes Plaquenil and a low dose of naltrexone for inflammation.
“By 4 to 5 o’clock, I’m in my recliner,” Jim says. “Starting at 7 o’clock, my wife gives me drugs by the hour to manage the pain. It usually takes until midnight for everything to kick in so I can get to sleep.”
Trying to help others with sarcoidosis
Five years ago, Jim joined the Foundation for Sarcoidosis Research — the world’s leading organization involved in research for a sarcoidosis cure and improving patient care and quality of life — as a patient advocate. He’s a member of the organization’s patient advisory committee and has lobbied on Capitol Hill for increased spending on research, in hopes of developing a cure for future generations.
“I speak at patient conferences to try to inform and empower others, so they don’t have to go through the same pain and suffering that I’ve gone through,” Jim says. “I want to help them become more educated about the illness.”
He says he wishes there were more doctors who specialize in conditions like his, so people wouldn’t have to travel all over the country to be treated. Helping others drives him, as does squeezing every ounce out of his time left.
“The news is bad for me, but I want to stress: My wife and I, we cherish every day, and we live for the day,” he says. “I fill my box every day with things that will be meaningful for me. They may not be meaningful for anybody else, but things that I want to do during the day that will bring me pleasure. It may be a drive out in the country or taking my wife on a date.”
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