Feb 14, 2022 · 9 min read
Uncovering Sarcoidosis: The Rare Disease Impacting Black Women in the U.S.
C. Ann Scott says she began experiencing sudden changes to her health in her 20s. Weight loss, trouble eating, shortness of breath and stomach pain.
“The doctor thought I was depressed and that I had anorexia nervosa,” she says.
To C. Ann, this diagnosis made sense given the responsibilities on her plate. She was the mother of three small children — ages 3, 4, and 5. And she was working full-time as a math teacher while her husband studied for his doctorate.
“I guess people thought I was overwhelmed with all of this going on,” she says.
After spending a month in the hospital receiving medical and mental health treatment, C. Ann recovered and returned to her work and life. However, when she looks back on that time, C. Ann says she was misdiagnosed. It wasn’t until her late 60s that she discovered the cause of her health challenges decades ago.
C. Ann was living with sarcoidosis.
What Is Sarcoidosis?
Sarcoidosis is an inflammatory disease characterized by the formation of granulomas, or tiny clumps of inflammatory cells, in one or more organs.
The body forms these tiny clumps of immune cells to protect itself when it thinks something is wrong. When the immune system goes into overdrive and too many clumps form, they can interfere with an organ’s structure and function. Patients begin to experience inflammation and, eventually, scarring, which can be detrimental.
While sarcoidosis most often impacts the lungs, it can affect almost any organ in the body. For example, cardiac sarcoidosis is when the condition involves the heart. Unfortunately, because the disease can appear in so many places, it can be difficult to diagnose. Sarcoidosis is often called “the great mimicker” because patients’ symptoms and experiences are seen with many other diseases.
Discover More: What Causes Inflammation and How Does It Affect Our Health?
Ignore No More: The Foundation for Sarcoidosis Research
Experiences like C. Ann’s, who was consistently misdiagnosed for years, are far too common.
The Foundation for Sarcoidosis (FSR) is working to change that. Founded in 2000, FSR is dedicated to finding a cure for sarcoidosis and improving patient care. Among the organization’s focus areas are raising awareness and improving health disparities experienced by Black women living with sarcoidosis — who bear the most significant burden compared to all other groups impacted by the disease.
Last year, FSR received a grant from to develop and strengthen their research network, align on shared priorities, and address diagnostic and equity-related challenges in sarcoidosis. FSR is committed to developing solutions for improving care and outcomes in Black patients and sharing findings with the healthcare community.
The foundation has also launched the Ignore No More Campaign to raise awareness about sarcoidosis’ prevalence among Black women in the U.S. As part of the campaign, FSR created two committees — one of sarcoidosis patients and care partners and another of practicing medical experts — to act as advisors and advocates.
We spoke with C. Ann, a member of the Women of Color Patient Advisory Committee, and Drs. Yvette Cozier and Divya Patel of the Women of Color Clinical Advisory Committee for insights into this diagnostic journey.
Finding Support as a Sarcoidosis Patient
After decades of health challenges, C. Ann has seen a remarkable improvement in her physical and mental wellbeing since her initial sarcoidosis diagnosis.
“Over the last five years, I have journeyed from somebody who was physically weak, afraid, not knowing what was wrong … to being physically stronger,” she says.
She credits family support — like when her daughter advocated for testing that resulted in a diagnosis — and a team of friends and doctors helping with care and recovery.
At the same time, C. Ann says she was deeply troubled by the barriers she faced while seeking appropriate care.
“I felt anger that it had taken so long to diagnose the problem,” she says.
Grappling with these complex emotions motivated C. Ann to join FSR’s Women of Color Patient Advisory Committee. Her goal is to make the diagnosis and treatment process less challenging for others than it was for her.
I don’t feel that anybody should go through this alone. You should have a group of people — a team that’s with you on this journey.
For other sarcoidosis patients and families, C. Ann recommends using FSR’s Patient Navigator Program, which provides one-on-one support for those newly diagnosed with sarcoidosis, in the diagnosis process, or experiencing their first flare-up or new organ manifestation. She also highlights the FSR patient registry, where individuals can share data about their health experiences with researchers and health care providers as they work to transform the search for better treatments.
In addition to these resources, C. Ann offers this advice for those impacted by sarcoidosis: “I don’t feel that anybody should go through this alone. You should have a group of people — a team that’s with you on this journey.”
Examining Sarcoidosis’ Burden on Black Women
Dr. Yvette Cozier, an associate professor of epidemiology at the Boston University School of Public Health, says her interest in sarcoidosis research began when she was working as an early investigator for the Black Women’s Health Study (BWHS).
Launched in 1995 as a postal questionnaire, BWHS works to identify and evaluate the causes of severe illnesses in Black women.
“We didn’t even ask about sarcoidosis in our first questionnaire, and nearly 1,000 women said that they had the condition. They wrote it in,” she says.
This finding motivated Yvette to help launch the BWHS Sarcoidosis Study, the only large epidemiological study of sarcoidosis focused exclusively on Black women.
From her years of research, Yvette describes sarcoidosis as a complicated and puzzling disease, but one thing remains clear: the burden on Black women in the U.S. is severe.
According to FSR, not only are Black women in the U.S. three times more likely to develop sarcoidosis than white women and white men, but they also have a 10 to 18 times higher hospitalization rate and 12 times higher mortality rate.
Researchers like Yvette are working to determine why the disease disproportionately impacts Black women, but she also points to long-term improper treatment as a potential factor.
“Having an acute condition for a year without proper treatment can lead to complications,” Yvette says. “These are things that can snowball to make the condition worse, and, as we’ve seen with COVID, it always trickles down to the most vulnerable in the population.”
We learn a bit more with every study that we do.
Researchers also know that genetics play a role in sarcoidosis. For instance, Black women with a family member with sarcoidosis have an increased risk of contracting the condition.
Yvette’s advice for anyone experiencing sarcoidosis is self-advocacy. She recommends that patients ask questions and write down questions in advance.
While the path to understanding sarcoidosis is challenging, Yvette remains optimistic about what long-term data can reveal for improving diagnosis and treatment.
She says, “We learn a bit more with every study that we do.”
Raising Awareness and Advocating for Patients
Dr. Divya Patel, a pulmonologist, associate professor, and director of the Sarcoid Program at the University of Florida, first became involved in sarcoidosis while she was in medical training. A mentor allowed her to see sarcoidosis patients, sparking her interest in supporting those impacted by the disease.
“Just knowing that I could help patients, get them on good therapy, and help them reduce side effects from the treatments they were on,” Divya says, “I just find that so gratifying.”
Many of Divya’s patients revealed that it took multiple years to receive a correct diagnosis.
“They were told that it was in their head,” she says.
For this reason, Divya strongly encourages patients, regardless of their condition, to ask their doctors as many questions as needed.
“You’re the patient,” she says, “ you deserve to be heard.”
For anyone who thinks they have sarcoidosis, Divya says a good initial step is to look at the signs and symptoms, especially if they have a family history of sarcoidosis.
“Write down the symptoms that you feel, and when you go to your doctor, you could say, ‘Do you think I could have sarcoidosis? What are some tests that we could do to figure out whether I have sarcoidosis or not?’” she says.
If you have women of color in your friend circle or family, tell them about sarcoidosis.
As a Women of Color Clinical Advisory Committee member, Divya says she wants to make as many people aware of sarcoidosis as possible — especially given that many patients and physicians aren’t knowledgeable about the disease.
Her call-to-action for anyone interested in helping: “If you have women of color in your friend circle or family, tell them about sarcoidosis.”
Want To Learn More About Sarcoidosis?
FSR is one of 50 patient-led organizations supported by CZI’s Rare As One Project. to learn more about these organizations working to improve the lives of people affected by rare diseases.
Join the FSR webinar and Facebook Live, featuring clinical advisory and patient advisory members on Feb. 16. Throughout February, which is Rare Disease Month, help spread the word by participating in the FSR #IgnoreNoMore social media campaign.