My new internist began my annual checkup with a nervous confession: “You are my first patient with cardiac sarcoidosis.” Even during an urgent care visit for potential cellulitis, I was met with raised eyebrows from the treating physician who reviewed my chart: “Very interesting, I’ve never seen a case of this heart disease.” With over 7000 rare diseases affecting more than 25 million people in the United States alone, patients with rare diseases are likely part of every health care provider’s practice panel. Collectively, the challenges facing patients living with rare diseases are not so rare after all.

I work in the biotech industry as a clinician-researcher focused on developing new therapies for (ironically) rare diseases. Thus, I am acutely aware of the lack of evidence-based management options for rare diseases. As a physician and rare disease patient, with a window into both perspectives, I felt surrounded by myriad uncertainties in my disease management. My attempt to answer a basic question regarding the management of sarcoidosis patients was frustrated by a lack of published information.

But first, I need to digress: Any essay about a rare condition that targets a wider audience faces the challenge of informing (as well as engaging) the reader. In my case, some basics about sarcoidosis need to be conveyed, although at the risk of the reader moving on to the next article. Not surprisingly, many people living with rare conditions are exhausted by the effort required to accurately explain (and sometimes pronounce) their illness, and often resort to canned perfunctory explanations. I am no different. Sometimes I let people assume that I had a common heart attack and not challenge the unspoken sentiment: “Poor guy should have taken better care of himself.”

Sarcoidosis can affect many different organs (including the heart) and causes a constellation of non-specific symptoms, making diagnosis difficult. Of note, sarcoidosis patients are at high risk for asymptomatic cardiac disease (often presenting with low heart rate). When sarcoidosis affects the heart, it can be acutely life-threatening. An affected patient could drop dead without warning, succumbing to a fatal arrhythmia. Autopsy studies have shown that at least 25 percent of sarcoidosis patients had evidence of cardiac involvement. In addition, imaging studies in people living with sarcoidosis reveal that a large percentage have asymptomatic cardiac disease. Simply put, the data show that the heart is a hidden, ticking time bomb for many sarcoidosis patients. In my case, the bomb was defused just in time.

During a routine annual physical exam, my primary care doctor dabbed his stethoscope all over my chest and became puzzled by an extremely low heart rate. During the previous year’s visit, both my heart rate and ECG were normal. Over the course of the year since the last checkup, my heart function had quietly deteriorated, leaving my heart rate teetering at a dangerously low level. My repeat ECG was now dramatically abnormal. With my heart rate in the 30s, I was diagnosed with complete heart block, a common presentation of cardiac sarcoidosis.

Without urgent pacemaker placement and prompt treatment with anti-inflammatory medications, I could have died from sudden cardiac arrest. An autopsy would have discovered that my heart had been infested with disease-defining granulomas, zones of active inflammation and scarring that wreak havoc on a heart’s ability to function and beat normally.

After I went into remission (and became more optimistic about my long-term prospects!), I asked a basic question: Could wearing a heart rate tracker (usually under the moniker of a fitness tracker or smartwatch) have led to an earlier detection of my surreptitiously declining pulse? Though not a replacement for detailed evaluations provided by standard cardiology tests (such as ECGs), a heart rate tracker is on duty 24/7, even during sleep. With alarms for low heart rate, I probably would have been pinged that my heart rate was going down the tubes.

Preventative measures can be effective though not overtly heroic. A sarcoidosis patient slapping on a heart rate tracker offers as much excitement as watching someone putting on a bracelet. But this mundane act could avoid the high adrenaline scenario of an unwanted cardiac resuscitation.

Current clinical guidelines recommend obtaining a baseline ECG (at the very least) on all sarcoidosis patients but do not recommend wearing a heart rate tracker. This omission is understandable: It would be difficult to make a definitive recommendation without peer-reviewed evidence in the medical literature. However, ECGs are performed only very periodically, with several months often passing between evaluations. My heart’s decline began after my normal (and, in hindsight, only temporarily reassuring) baseline ECG.

A basic (and even name-brand) heart rate tracker costs as little as $50 to 60 (and can be reasonably expected to last at least three years). In contrast, my initial hospitalization cost the health care system several hundred thousand dollars to embed a pacemaker in my chest. Thus, for an average annual cost of about $20 per year, wearable technology allows for easy heart rate monitoring in sarcoidosis patients between doctor visits and more formal heart evaluations. The deadly threat of undiagnosed cardiac disease may be justification enough for making such a relatively small investment to supplement surveillance, though it’s hard to know for sure without solid data in this rare disease.

Before my heart trouble, I preferred a traditional wristwatch (nothing fancy, but adding a bit of flair and individuality). But soon after my pacemaker placement, I went digital. Since then, I have been comforted by noting my heart rate several times a day. In fact, I have turned checking on (and appreciating!) my beating heart as a wellness exercise, incorporating these meditative pauses throughout my day. Although I have already been diagnosed with cardiac sarcoidosis, the ability to refer to my heart rate with a quick glance, like checking the time of day, provides a good measure of comfort.

As a clinician-researcher, I completely understand that gathering evidence for improved management for rare diseases can be particularly challenging. A properly designed clinical study to show that continuous heart rate tracking increases the detection of heart disease in sarcoidosis patients would be lengthy and costly. Also, whether a patient wears a heart rate tracker (or not) is not captured in medical records, so it is difficult to draw conclusions from analyzing existing health care data. Intriguingly, a recently published case report describes how cardiac sarcoidosis was diagnosed in an asymptomatic middle-aged woman who noticed a decreasing heart rate on her smartwatch (and sought out life-saving medical care). Although a case report provides a dose of supportive insight, it is hardly a substitute for a prospective clinical trial.

As is the case with cardiac sarcoidosis, each rare disease has its own specific quagmire of uncertainty, a collection of important questions without clear answers. Some solutions will require innovative medicines that often take decades to develop and pass the threshold for regulatory approval. Other approaches to improve rare disease interventions can be less costly and perhaps best uncovered by candid dialogues about unmet needs between health care providers and their patients. In the absence of data to evaluate treatment approaches, health care providers and patients need to bring creativity and common sense to manage unusual conditions. Patients and families affected by rare diseases must often act as their own advocates and use imperfect information (even if anecdotal) in their medical care.

Kamal Bharucha is a pediatric endocrinologist.