Just walk it off, David Key told himself. He trudged along the roadside, hoping to outpace his pain. The gravel crunched under his feet, his steps kicking up faint clouds of dust in the moonlight.
Not much happens in the wee hours in Oil Center, a rural community in southeastern Oklahoma. And middle-of-the-night journeys weren’t the norm for Key, then 41 and owner and operator of a construction and insulation business. But this was no ordinary evening.
Around 1 a.m., he’d awakened with stabbing pains in both his armpits. “It felt like someone had propped me up on a couple of broom handles,” Key says. “The pain was excruciating.” He stepped outside to clear his head and avoid waking his wife and two daughters. When a short walk failed to bring relief, he climbed in his pickup and drove to the E.R.
Key didn’t know it then, but that night a dozen years ago would mark the end of an era. No longer would he be a healthy father, husband and business owner who raced motorcycles competitively. Instead, suffering and disability would come to rule his life.
“I have such pain in my chest,” he says. Often, it goes on for days. “It takes me to my knees.”
He cycled through hospitals and clinics. No matter what medications doctors prescribed, his condition worsened. He was wracked with uncontrollable tremors. Neurological problems. He could no longer run his business, so he changed jobs. Finally, after a pair of strokes, he was forced to go on disability.
Still, when Key arrived at the E.R. that night in 2006, physicians didn’t know what was wrong. They gave him some pain pills and sent him home.
But within weeks, after shuttling to a number of different hospitals, Key learned a name for his pain. It was a word he’d never before heard. But in the coming years, he’d grow to know it well.
Doctors told him he suffered from a disease called sarcoidosis.
Researchers know little about what triggers sarcoidosis. It seems to start in the immune system, eliciting rampant inflammation. The disease also causes lumps of immune cells—called granulomas—to form in organs throughout the body. These tumor-like lumps can appear in the eyes, liver, heart, skin and brain and most often are found in the lungs. They also give the disease its name, as the growths were initially be believed to be a form of sarcoma, a type of cancerous tumor.
The lumps, though, are not cancerous. However, they cause Key intense bouts of pain. And while uncomfortable, the fact that they are not in his heart or lungs is fortunate. If too many of them form in a single organ, they can cause the organ to malfunction or even fail. This is the reason that one in 14 people with sarcoidosis eventually die from the illness.
Sarcoidosis can strike anyone, but it disproportionately affects African Americans: Disease incidence has been reported as high as 39 in 100,000 among African Americans, versus five in 100,000 for Caucasians. African Americans are also 10 times more likely to die from it than their European-American counterparts.
Mortality can result from respiratory, neurologic or liver failure. But the most common causes of death are cardiac conditions, which claimed the lives of the two best-known sarcoidosis sufferers: comedian Bernie Mac and NFL Hall of Fame defensive lineman Reggie White.
Most patients experience lung symptoms, including chest pain, dry cough or shortness of breath. Other symptoms can include fatigue, fever, joint pain, skin rashes and sores.
Because of the disease’s rarity and wide range of effects, doctors often struggle to identify it. “Unless patients’ first symptoms are in the lungs, they’re usually misdiagnosed,” says Dr. Courtney Montgomery, who studies the disease in her lab at OMRF.
Often, she says, patients like Key can ping-pong from physician to physician before one accurately identifies their condition. “It’s a diagnostic odyssey. It can take six years, eight years, even longer. That’s the story we hear most.”
Even a definitive diagnosis brings little relief. There is no cure, and while the disease can go into remission on its own, no drug has been shown to definitively modify disease progression. While doctors are sometimes able to control symptoms with medications, the process of managing their condition can become a full-time job for those with sarcoidosis.
“Few specialists see sarcoidosis, so they aren’t sure what to make of it. And there’s no central place for these patients to go,” Montgomery says. “Instead, they have a cardiologist. A pulmonologist. An eye doctor, a neurologist, a dermatologist. They see all of them.”
This treatment landscape—confusing, lonely, bereft of promising paths forward—is what drew Montgomery to sarcoidosis. A geneticist by training, she’d spent more than a decade working to understand what predisposes certain people to diseases such as lupus and cancer. But while many other scientists around the world were focused on finding the roots of these conditions, only a handful were looking at sarcoidosis.
Montgomery had been peripherally involved in a research project on the disease in graduate school. She stayed connected to it when she joined the faculty at Case Western Reserve University in Cleveland and, subsequently, when she moved her laboratory to OMRF in 2008. Along the way, the project ran out of funding. Montgomery saw two choices: let it die, or go and get a new grant.
In 2009, she secured funding from the National Institutes of Health. “With that grant, we were able to begin delving into the genetic roots of the disease,” she says. She and her OMRF research team focused on African-American families, since they bore a disproportionate weight
While the work was, to an extent, fruitful, she ultimately realized there was only so much she could learn from patient samples gathered more than a dozen years before. To make real headway, her team needed fresh samples. That meant connecting with patients.
Although any research Montgomery and her team did would not directly benefit the participants, Montgomery hoped they’d be willing to help. “By studying what’s going on at a genetic level in patients with active disease, we hope to identify environmental triggers—pathogens, allergens, things like that—that initiate sarcoidosis onset,” she says. Ultimately, that work might point scientists to an effective treatment. “Much like when researchers discovered insulin could control type 2 diabetes, we’re hoping to find a protein we can either supplement or alter to treat sarcoidosis.”
Of course, there’s no guarantee the work will lead to new therapies. “But if we don’t do this kind of research,” she says, “we know things won’t improve for these patients.”
In early 2018, Montgomery opened the Sarcoidosis Research Unit at OMRF. “Within 48 hours, we had 20 people respond about participating,” she says. “The disease strikes more Oklahomans than anyone imagined. We just had to go on faith that we’d find them, and we have.”
Once enrolled in the study, participants undergo a screening process, complete questionnaires and donate a small blood sample to be used for research. Volunteers are also asked to provide consent to review medical records and request previous biopsies related to the disease.
No treatment is administered at OMRF, but the information gathered helps give researchers a clearer picture of the disease and how it progresses. The blood samples are examined in the laboratory to look at the genetic makeup of patients versus healthy controls—individuals without a sarcoidosis diagnosis—to help scientists identify triggers or biomarkers for the disease.
“Traditional thinking on sarcoidosis has always been broken into two camps: either it’s an autoimmune disease or it’s an infectious disease,” Montgomery says. “Our preliminary findings are strengthening the argument that this disease has components of both. We’ve learned that just from our first round of recruitment.”
For most participants, their visits culminate in face-to-face visits with Montgomery. In almost every case, she says, meetings end in tears, hugs or both.
“We understand them and what they’ve gone through to get here. We give them hope, because we’re working hard for them. For many, it’s refreshing to talk to someone, finally, who doesn’t think they’re crazy. They will drive for hours just for the chance to tell us about their personal experience with sarcoidosis.”
That time with patients has also proven essential to steering Montgomery’s studies in the lab. “Their stories have guided the science from the start,” she says. “Even as different as their conditions may seem, I find commonalities in their narratives. I like to take my time and get to know them, hear their experiences. At the end of the day, it lets me do what I do best: problem-solve.”
Montgomery and her team are using sophisticated genetic techniques to analyze what’s going on in patients. “We’re also trying to look at things chronologically to learn what tells the blood to migrate to a specific place and create a granuloma,” she says. “We just now have the technology to do that.”
She also aims to educate those on the front line of treating the disease. “We completely understand how challenging this is for some clinicians,” she says. “There’s no place for a general practitioner in a small town to get training on a rare disease like this one, so we want to bring the training to them.”
Montgomery hopes to enroll 200 patients in the study. She knows that’s a steep order for a rare disease, but having large numbers of research subjects is key to making new insights.
The ultimate goal of the work, she says, is simple. “All we do is pointed toward changing the treatment landscape for patients.”
The night of David Key’s midnight walk, emergency room staff had no answers for his agony. “I think they thought I was just after pain pills, you know, like an addict.”
In the ensuing week, surgeons removed his gall bladder. When that did nothing to ease his suffering, another physician diagnosed him with pancreatitis. But, again, treatments failed to help. “I lost weight real fast. I looked horrible.” Things got so bad that doctors suggested Key spend time with his family and get his affairs in order.
But then a physician thought he recognized Key’s symptoms. A subsequent biopsy of lymph nodes removed from Key’s chest proved the hunch: sarcoidosis.
“Boom. Everything changed,” Key says. He started on a steroid that helped tamp down the inflammation that had run amok in his body. In time, though, he developed new symptoms.
First, it became hard to write. “I shook so hard, it was like I had Parkinson’s. I couldn’t eat with a spoon or eat chips and salsa, anything I had to hold,” he says. “Then I got what I called ‘needle pains,’ where it felt like someone was poking me with ice picks all over my body, on my ears, legs, tongue, hundreds of times a day.”
At his doctor’s urging, he eventually sold his business and took a desk job. He enjoyed the work, but sometimes he’d get disoriented and couldn’t find his way back to his office. Other times, he’d forget how to log into the computer system he’d used for years.
In the summer of 2017, Key suffered a stroke. A month later, he had a second one. With the increasing toll sarcoidosis was exacting on his body and mind, he could no longer meet the demands of the workplace. He took long-term disability.
“I got in a big depression over that,” he says. “I had worked all my life and really enjoyed it. Then all of a sudden, I couldn’t work anymore. It’s really been rough.”
Despite the physical challenges, Key still prides himself on keeping his yard in order. It might take two or three days to finish, but he keeps things mowed and tidy the best he can. He’s also working on some projects around the house and in the garage.
Since the strokes, doctors have largely managed to control his symptoms. Steroids keep the inflammation in check, and he takes a laundry list of other medications for the tremors, pain, depression and neurological issues. Still, he continues to experience near-continuous pain in his chest and underarms. When his disease flares, he could swear he’s having a heart attack.
For Key, a vital part of his ability to persevere has come from the online support he’s received from other sarcoidosis patients. “It’s really good to be able to share with somebody who knows what you’re going through,” he says. “We try to hold each other up and be there for each other. There’s no cure and no perfect way to take care of us, so we talk about everything. Doctors, medications, depression, flares.”
A Facebook group that started with a few hundred members has grown to almost 5,000. Through it, he’s befriended patients as far away as Africa and Australia. “One just got a lung transplant. Others talk about getting infusions and other treatments.” A young disease sufferer awaiting a lung transplant died recently, he says. “It can be hard, but it helps to have them for support, because everyone with this disease has a lot of questions.”
It was through an online connection that Key found OMRF. Another member of the Facebook group is a sarcoidosis patient from Tulsa, and they began chatting on the phone from time to time. (They’ve never met.) One day, she mentioned OMRF and its Sarcoidosis Research Unit. She explained what it did.
As Key listened, something dawned on him. This disease had kept him powerless for so long. But here was an opportunity to do something. To make a difference.
He drove to Oklahoma City. He filled out questionnaires detailing his history with the disease, his medications. He donated blood.
It’s been almost a year since then. Key understands that researchers are working with the samples and information he—and others like him—provided. He also knows what he’s given likely won’t help him directly. If there are answers, they’ll come slowly, and in little pieces.