Dr Josette Pelatan had symptoms such as fatigue and cognitive fog from childhood. Her symptoms progressed into adulthood, yet the cause remained a mystery. She began studying neurology and immunology, and has shared her story about her path to diagnosis

Written by Dr Josette Pelatan

I believe my rare disease journey did not begin in adulthood, but in childhood, long before it had a name.

From an early age, I experienced persistent fatigue, cognitive fog and fluctuating neurological symptoms that were never fully explained. I was often able to function and even excel, but beneath that external performance was a baseline of exhaustion and cognitive inconsistency that never resolved. My attention, memory and energy would shift unpredictably, yet these experiences were repeatedly attributed to stress or psychological causes rather than investigated as neurological or immune-related signals.

At age 11, after receiving routine vaccinations including chickenpox and measles, I experienced a severe case of shingles. At the time, it was treated as an isolated infection. In hindsight, it marked a significant escalation in a broader pattern of immune and neurological instability that had already begun to surface.

Despite these early signs, I was highly functional. I was driven, resilient and outwardly capable. I learned to compensate for my symptoms by pushing harder, overperforming, and building redundancy into my life. I often held multiple responsibilities at once, not because my body was stable, but because I could not afford to rely on a single point of functioning.

Over time, the illness became more structured and more severe. Episodes of neurological dysfunction began to recur in waves, each more complex than the last. I experienced increasing cognitive slowing, visual disturbances primarily affecting one eye and progressive motor instability that affected coordination and balance. It felt as though my nervous system would intermittently disconnect, creating a delay between intention and action.

By my thirties, the condition escalated significantly. I began experiencing transient ischemic attack-like symptoms, prolonged cognitive impairment and severe neurological fatigue. My thinking felt slowed, as if information was arriving late to consciousness. I remained aware, but unable to process or respond at normal speed.

Heat sensitivity became a clear and consistent trigger, with symptoms worsening dramatically in warmer environments or with physical exertion. This is consistent with something called the Uhthoff phenomenon, which is the worsening of neurological symptoms seen in demyelinating disease¹.

At the same time, systemic symptoms emerged that could no longer be ignored. I experienced severe gastrointestinal dysfunction, including episodes of rectal prolapse triggered by stress or exertion, as well as swollen lymph nodes that appeared with minimal physical or emotional stress. These were not isolated events, but part of a multisystem pattern that was rarely connected clinically.

Despite this progression, the dominant interpretation within healthcare remained psychological. My symptoms were repeatedly attributed to anxiety or mental health, even as neurological and systemic signs accumulated over time. Because I continued to function intermittently, through determination, adaptation and necessity, the severity of my condition was frequently underestimated.

Functionality masked progression. Resilience delayed recognition.

Eventually, the gap between lived experience and medical explanation became unsustainable. I made a decision that fundamentally changed my trajectory: I became my own researcher.

I began studying neurology and immunology, learning to interpret clinical literature, imaging reports and medical terminology in order to understand my own body. I documented my symptoms systematically, not as isolated events, but as longitudinal data reflecting a progressive neurological process.

When local healthcare systems reached their limits of investigation, I pursued care beyond them, seeking answers across borders.

At the same time, I entered a PhD program in Interdisciplinary Health Sciences at the University of Texas at El Paso. My academic work became inseparable from my lived experience. Through autoethnographic research, I examined how healthcare systems respond to complex neurological illness, particularly when symptoms do not align with conventional diagnostic frameworks.

Through this combined process of lived experience and structured research, I was finally diagnosed with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), a rare autoimmune demyelinating disorder affecting the central nervous system.

MOGAD is characterised by relapsing neurological symptoms affecting the optic nerves, spinal cord and brain. Its variability and episodic nature often make diagnosis difficult, particularly in early stages.

Receiving the diagnosis brought both clarity and grief. Clarity, because my experiences finally had a physiological explanation. Grief, because recognition came after years of escalation, misinterpretation and preventable uncertainty.

My story reflects a broader systemic issue in rare disease care: when symptoms fluctuate or patients remain functional, their experiences are often reframed rather than investigated. In such cases, patients become interpreters of their own illness long before they are believed by systems of care.

This creates an invisible burden; one that extends beyond disease itself into cognition, identity and survival.

Today, I share my story not as an exception, but as part of a larger pattern experienced by individuals with rare and complex conditions.

My hope is that future patients will not need to become their own researchers in order to be taken seriously, and that medicine will learn to recognise complexity earlier, listen more fully and integrate lived experience as essential clinical knowledge.

References

[1] https://www.ncbi.nlm.nih.gov/books/NBK470244/

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