Written by Jill Labecki

Don’t let a lack of resources and knowledge affect your patients and their families.

Sarcoidosis is often referred to as the “Snowflake Disease” because patients present with many different symptoms; no two cases are alike. Some symptoms of sarcoidosis often mimic those of other diseases.

This makes the diagnosis of this rare disease very challenging. It can affect multiple organs in the body, causing inflammation and growth of granulomas. Like most autoimmune diseases, the exact cause and what triggers this abnormal response are unknown. Although it is controllable with corticosteroids and immunosuppressants (which can slow the growth of the granulomas), the sad truth is that the disease has only palliative treatments.

Sarcoidosis is incurable.

In 2009, my dad was diagnosed with Sarcoidosis. His symptoms started after recovering from open-heart surgery. The shortness of breath, fatigue, and mild chronic coughing were presumed to be part of recovering from this major surgery. This went on for many months before, eventually, a chest X-ray showed densities in his lungs.

My parents lived in a very rural town in northern Pennsylvania. My Dad’s PCP ordered loads of tests. The doctor ordered every bloodwork panel he could to try to figure out what was going on. Dad had multiple CTs and PET Scans that did not give a clear answer either way.

Was it pneumonia?
Was it pulmonary nodules?
Was it cancer?

At the time of my dad’s surgery, I had been working in healthcare as a CT technologist for 15 years. Even though I understood the process of putting the pieces of all the results together to (hopefully) come to a diagnosis, it was still frustrating for me to wait for results. I saw the frustration in my dad, too. He felt sick and feared what could be wrong.

Dad started getting fluid in his lungs and had to be transferred to a hospital near Pittsburgh. After a thoracentesis, the pulmonologist decided to do a bronchoscopy and biopsy the densities. This biopsy showed it was thankfully NOT CANCER! BUT it did show granulomas. My dad was officially diagnosed with Sarcoidosis.

Dad was sent back home and told to follow up with his PCP. Since Sarcoidosis is rare and challenging, he was referred to a specialist at the Cleveland Clinic. He was started on Methotrexate and Prednisone to stop the inflammation. The thing with Sarcoidosis is that it is completely possible to live a normal life with little to no symptoms if it isn’t “active”. If Sarcoidosis becomes “active,” the granulomas form faster and can spread to other organs in the body.

In 2014, my dad became sick with a nasty cold that turned into pneumonia. The Sarcoidosis became active. An increase in granulomas caused atelectasis in his lungs. From that day forward, he would need to be on oxygen. The disease now seemed to progress faster, presenting new and complicated symptoms.

Weekly bloodwork showed low RBC, so Dad was referred to an oncologist who treated him for MDS (“pre-leukemia”). A bone marrow biopsy revealed that his sarcoidosis was now in his bones and bone marrow. He developed debilitating back pains from the granulomas in his bones. It was so hard to see this strong, active man now confined to his chair, on oxygen, and constantly in pain.

Dad’s daily life became more difficult. He could only walk, hunched over, with a walker or cane. The tubing from the constant oxygen he required followed him everywhere he went. It was his “lifeline”. The most that he got out of his chair was to go to appointments and his occasional trips to see family. Every day at work, I witness the frustration of my patients who physically can’t do the things they want or need to do; they feel useless. I was now seeing those same feelings in my dad.

The last 3 months of his life were spent in a Pittsburgh hospital. The medical team had determined that he had a blood infection. Someone with a healthy immune system could have easily fought off the infection, but with this disease, it was causing Dad to spike fevers. He was possibly becoming septic. They treated him with very powerful antibiotics. We were hopeful they would get rid of the infection, and we could possibly get him on the lung transplant list.

The first time they put him on BiPAP, the resident said Dad told her to “just keep him going”. Dad fought so hard for so long, I could tell his body was growing weary. He eventually went into respiratory failure, and the medical team wanted to intubate. We knew he wouldn’t want to live like that.

Comfort Measures Only.

We were all able to say our goodbyes on March 12, 2017, and the next day, he passed away in the ambulance on his way back home. From what our family experienced, there is an extreme lack of knowledge and resources when it comes to sarcoidosis and how to properly treat it. This was especially true in the rural area where they lived. With every symptom he developed, the medical team would say, “must be from the sarcoidosis,” since they couldn’t figure it out.

I want to encourage medical professionals to investigate the multiple research sites that offer up-to-date information on this rare and complicated disease. (Foundation for Sarcoidosis Research and Bernie Mac Foundation).