Pondering the patchwork nature of sarcoidosis diagnosis and treatment

One of the most stressful aspects of rare disease life is visiting a new doctor. You’d think we’d be used to it — after all, we do it often enough. But between the sheer volume of information we have to share and the limited time we have to share it, even the best appointments can feel inadequate.

We never know if the next new doctor will be open to hearing our thoughts and experiences or dismissive of anything they can’t see or haven’t seen before. Sadly, many of us have had more of the latter, which can make us wary of every new appointment.

After my cardiologist went on indefinite leave last year, I dreaded finding a new one. I put it off for as long as I could, delaying and rescheduling until I ran out of medication refills. I finally met with a new doctor last week. Thankfully, she was interested in my thoughts, familiar with my disease, and open to making changes together.

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We began by reviewing my (many) diagnoses. Since cardiac sarcoidosis often goes undetected, it is important to monitor sarcoidosis patients for “clinically silent cardiac involvement.” My previous cardiologist and current neurologist believe that I also have postural orthostatic tachycardia syndrome, though the tests we have done were inconclusive. We’ve had issues with my blood pressure being too high and too low, so I’ve had conflicting recommendations and treatments.

Next, we reviewed my (many) medications. She noted that I am on an “unusual antihypertensive regimen,” taking several medications that are generally prescribed for different purposes, including:

• A blood pressure medication for chronic migraine
• An attention-deficit/hyperactivity disorder medication for hypertension
• Another blood pressure medication for hidradenitis suppurativa, a chronic inflammatory skin condition that can be associated with sarcoidosis.

A focus on fragments

It feels like so much of my diagnosis and treatment has been patchwork — focusing on each individual aspect rather than looking from a holistic perspective. That’s a common problem with a disease like sarcoidosis.

As is the case with many rare diseases, sarcoidosis isn’t given much time in the standard medical school curriculum, and most doctors don’t see sarcoidosis patients in their practices. With neither the education nor the experience, it’s understandable that they look to more common conditions for answers. But understandable doesn’t make it OK for us.

Sarcoidosis is often called a snowflake disease because it affects each patient differently. The symptoms often mimic those of many other conditions, so diagnosis is tricky. With different onsets, presentations, and severities, there’s no “textbook case” to use as a guide or “cookie cutter” treatment to address it.

As a multisystem disease, sarcoidosis is addressed by many doctors, often with minimal awareness of one another’s work. For me, that includes a primary physician, cardiologist, dermatologist, neurologist, ophthalmologist, psychologist (we can’t forget about mental health!), pulmonologist, and rheumatologist, with fluctuating symptoms that have added a hematologist, hepatologist, immunologist, and infectious disease specialist to the list as needed.

I also have other conditions that require an endocrinologist, gastroenterologist, gynecologist, and orthopedist — not to mention a physical therapist and infusion nurses. While an electronic portal system makes some of these specialists’ notes available to some of the others, we don’t always realize that such different symptoms can be related and that these individual patches can be connected.

Fortunately, there are resources to help us stitch things together.

Joining the pieces

The World Association for Sarcoidosis and Other Granulomatous Disorders offers a list of recognized sarcoidosis clinics and centers of excellence around the world. These sites feature multidisciplinary teams with the expertise and experience to educate and guide both doctors and patients toward better disease management.

After my regular doctors in New York were out of ideas, I contacted the sarcoidosis center at the Cleveland Clinic. In one trip, I was able to see three specialists and have multiple diagnostic tests performed. Based on their findings, the doctors were able to offer a treatment plan that my local specialists could implement closer to home.

We can also find information online that can help connect the dots for us. Sarcoidosis organizations and informative websites like Sarcoidosis News offer general information about the disease and updates about the latest scientific findings. In fact, that’s how I first learned about sarcoidosis-associated small fiber neuropathy, how to test for it, and how to treat it. I brought that information to my neurologist, and a biopsy confirmed the diagnosis.

Perhaps the greatest resource we have, though, is each other. Sarcoidosis patients often share our experiences through social media, support groups, books, blogs, and columns. We can learn from one another, laugh together, cry together, and share stories with people who truly get what we are going through.

Together, we can take those scattered pieces and create a beautiful patchwork quilt for the sarcoidosis community.

Note: Sarcoidosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sarcoidosis News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to sarcoidosis.