What’s one of the top ten mysterious diseases? Sarcoidosis

By Kathleen Hoffman, PhD, MSPH

Rare disease sufferers may be few in number for a particular condition, but they are an army of survivors when they’re together.  Sarcoidosis is one of the 3000 rare diseases represented in Inspire’s community.  With 600,000 Inspire members affected by rare conditions, the over 95,000 making up the Sarcoidosis audience on Inspire or “sarkies,” as they call themselves, are in good company.

Dr. Michael Iannuzzi,  the Edward C. Reifenstein Professor and Chair at the State University of New York-Upstate Medical University, calls sarcoidosis one of the “top 10 mysterious diseases.” Sarcoidosis triggers the autoimmune system to generate clumps of inflammatory cells (granulomas) in any part of the body. Its cause is unknown.

According to Dr. Iannuzi, about 90% of cases feature lung involvement; it may or may not result in skin presentations like Lofgren’s syndrome; more than half disappear in 1-3 years, often without treatment; other cases can result in fibrosis leading to complete heart blockage, kidney failure, or interstitial lung disease.

Because the symptoms are so varied, diagnosis involves ruling out other diseases and can be a long process. Jean Hilde, a sarcoidosis patient advocate and Inspire member, can attest to this.  In an Inspire webinar/virtual roundtable on how social media health communities affected the patient’s journey, she said she had heart symptoms for 8 years before being diagnosed with sarcoidosis.

I could not get any of the doctors to take me seriously. I would hear things like, ‘You’re depressed,’ ‘take anti-anxiety medications,’ even ‘you need to go run some stairs’.” This is a person whose disease resulted in complete heart blockage.

Even after her diagnosis, she had to do a lot of her own research, and found help on Inspire:

The doctors I was working with at the time really had no experience with this rare illness so I was kind of left on my own to figure that out and that’s how I discovered Inspire. I was able to talk with other people who had experience and had been through what I was going through. They were able to share the knowledge they gained. 

After she joined Inspire, she learned from other cardiac sarcoidosis members that a pacemaker might not be enough. She asked her doctors about an internal defibrillator as a treatment, and when they agreed, she received one. “I would 100% credit the Inspire community and social media with helping me know that I needed to do that.” 

In a survey, Inspire’s rare disease members revealed just how much they rely on this social media health community for both support and treatment advice: 54% said they found knowledge about what to expect from their conditions and 47% said they found advice about treatments.

For example, a member of the sarcoidosis community described multiple symptoms and asked what treatments other members were receiving:

I am newly diagnosed with sarcoidosis. After CAT scans and [a] PET scan I have Granulomas in lungs and lymph nodes… I get 4 days of being tired, ears ringing, and a feeling of being sick all over. I have it in my eyes but eye doc is just keeping watch on it…. The information on this illness is so broad and so much can happen. What treatment is anyone under with it?

There is a lot to be gained by being part of a rare disease community. As one member put it:

When I joined Inspire I was welcomed to the world of sarkies. I felt an instant feeling of belonging. I am passing that on to you. I am sorry that you need to be here, but you will find lots of support, compassion and education on this site.

Inspire is a vital partner to 40 rare disease non-profit advocacy organizations, including like the Foundation for Sarcoidosis Research. This is where real world rare disease patients and caregivers congregate. Inspire is a vital source of information about what these special patients are thinking and doing. Find out what they need.