As physicians, we are trained to tolerate uncertainty. “Idiopathic” reflects the limits of current knowledge. But for patients, it often marks the end of inquiry rather than the beginning of deeper investigation.

Even as a medical professional, I accepted these explanations longer than I should have.

That is perhaps the most sobering part of this story.

If someone with years of clinical training, access to specialists, and familiarity with the system can be reassured into diagnostic complacency, what happens to patients without that background?

Everything changed in June 2025.

A blood test—one that had not been part of prior evaluations, and one that is often difficult to obtain insurance approval for despite its diagnostic value—revealed the answer: a genetic diagnosis of RFC1-related disease, most commonly manifesting as CANVAS (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome).

Suddenly, decades of seemingly unrelated symptoms aligned into a single diagnosis.

But the impact of that test extended far beyond clarity. One result set off a cascade of life-altering changes. My surgical career, built over decades, came to an abrupt halt. Retirement followed quickly, bringing with it uncertainty I had never fully anticipated. Medicine had always been more than a profession—it was part of my identity.

In that space, I made a decision: if I could no longer provide care in the operating room, I would find another way to contribute. I founded the RFC-1 Foundation, focused on awareness, education, and research surrounding this condition. Rare diseases like this are often overlooked, under-recognized, and poorly funded. Yet for those living with them, the impact is profound. If my experience can shorten someone else’s diagnostic journey—or bring greater attention to this disease—then it represents a new kind of purpose.

In hindsight, the clues were there. But no one connected them.

This is not a story about failure of individual physicians. I encountered thoughtful, well-trained clinicians throughout this journey. Rather, it reflects how modern medicine—despite its sophistication—can become siloed, constrained by algorithms, and reluctant to step outside established frameworks.

We are trained to think systematically. But not always expansively.

Rare diseases, by definition, fall outside the routine. They require a willingness to revisit assumptions, connect disparate symptoms, and consider diagnoses that may not appear on the first page of a differential.

The increasing availability of genetic testing is changing this landscape. Conditions like RFC1-related disease are now being identified more frequently. But testing alone is not enough. It must be paired with clinical suspicion—the willingness to ask, What are we missing?

One of the most striking aspects of my experience is how often “idiopathic” functioned as a stopping point.

For clinicians, it reflects intellectual honesty. For patients, it can feel like a quiet dismissal.

There is a difference between acknowledging uncertainty and accepting it too quickly.

As physicians, we owe it to our patients—and to ourselves—to maintain diagnostic humility. That means recognizing when patterns don’t fully fit, when symptoms evolve, and when it is worth revisiting a diagnosis labeled as “idiopathic.”

It also means listening carefully.

Patients often carry the narrative of their disease long before we recognize it. The chronic cough. The gradual imbalance. The sensory neuropathy labeled as idiopathic. These are not isolated complaints—they are pieces of a larger puzzle.

Today, I find myself in a dual role: physician and patient.

That perspective has reshaped how I think about diagnosis, uncertainty, and responsibility. It has also driven me to raise awareness of RFC1-related disease—so that others may reach answers sooner than I did.

Earlier diagnosis may not have changed the course of my condition.

But it would have changed the experience of it.

Clarity matters.

Understanding matters.

And for patients navigating years of unexplained symptoms, “we don’t know why” should not be the end of the story.

It should be the beginning of a deeper search.

Because sometimes, the missed diagnosis is our own.

My Story

When the Doctor Becomes the Patient: Missed Clues and Missed Curiosity

For years, I diagnosed patients. I did not expect to become one of medicine’s missed diagnoses.

For more than two decades, I lived with a chronic cough.

As an orthopedic surgeon, I approached it the way many physicians do—with curiosity, pragmatism, and, admittedly, reassurance. I saw specialists. I underwent testing. I listened carefully to explanations. Over time, like many patients, I was given a familiar conclusion: idiopathic.

No clear cause. Nothing to worry about. Something to live with.

But the cough was only part of the story.

Over the years, other symptoms emerged—subtle at first. Sensory changes. Balance issues. Findings that prompted neurologic evaluation. About three years before my ultimate diagnosis, I underwent a formal assessment and was diagnosed with idiopathic sensory neuropathy. The workup was thorough by conventional standards. And again, the conclusion was one physicians and patients alike have come to accept: no identifiable cause.