A Journey Through Uncertainty: Discovering Resilience Amidst APBD

Jeff Cooper’s existence has always been characterized by enthusiasm. Whether he was engaging students as a law professor at Indiana University in Indianapolis, displaying his musical talents on stage with a guitar, or hitting the pavement as a distance runner, Jeff flourished in the limelight, savoring each moment with intention and vigor. For nearly thirty years, teaching law not only enriched the lives of his students but also fulfilled his intrinsic urge to perform and connect. Beyond the classroom, music and physical activity provided him with avenues for creativity and stability.

However, everything began to shift in 2006, when alarming signs subtly emerged in his body—alterations in his vision, tingling sensations in his feet, and an escalating sense of uncertainty that defied rationale. These seemingly disparate experiences marked the inception of a lengthy, bewildering, and often exasperating journey through the realm of rare diseases and medical ambiguity.

The Extensive Quest for Clarity

In 2007, Jeff received his initial diagnosis: multiple sclerosis (MS), a persistent ailment that impacts the brain and spinal cord. Following conventional practices, he commenced a regimen of weekly injections—self-administered treatments aimed at decelerating MS progression. The routine was grueling; the side effects rendered him unwell one day each week. Nevertheless, the symptoms he hoped the treatment would alleviate remained unchanged, causing him to doubt the accuracy of the diagnosis.

By 2009, he took charge of his own health, traveling to Johns Hopkins to consult the head of their MS program. After undergoing extensive testing—lumbar puncture, vision assessments, and nerve conduction tests—the doctor arrived at the same conclusion Jeff had started to suspect: he did not have MS.

The lack of a definitive diagnosis left him ensnared in medical uncertainty. Even experts at the National Institutes of Health (NIH) struggled to pinpoint the underlying condition affecting his central and peripheral nervous systems. “You’re a very interesting person,” the head of neurology remarked—words that highlighted just how limited medical knowledge was at that time.

A Uncommon Diagnosis: Adult Polyglucosan Body Disease (APBD)

It wasn’t until 2018—more than a decade after the onset of Jeff’s symptoms—that he finally received a conclusive diagnosis: Adult Polyglucosan Body Disease (APBD). A rare, progressive neurodegenerative condition, APBD impacts the nervous system due to a deficiency in the glycogen branching enzyme. This enzyme deficiency results in the accumulation of polyglucosan bodies, essentially anomalous glycogen molecules that hinder normal cellular function, particularly in nerves and muscles.

Symptoms of APBD can differ but commonly include:

– Muscle weakness
– Challenges in walking
– Sensory loss or neuropathy
– Urinary incontinence
– Occasionally cognitive decline

While vision impairment is not a typical characteristic of APBD, in Jeff’s situation, doctors believe it was a consequence of the disease’s effect on the optic nerves and brain’s white matter. These symptoms underscored a sobering truth: the disease impacts nearly every facet of the nervous system.

A Family Diagnosis and a Global Enigma

The diagnosis generated more questions than it resolved. Jeff had never encountered APBD, and few doctors possessed an in-depth understanding of it. To add to the surreal nature of it all, his sister—facing distinctly different neurological symptoms—was diagnosed with APBD on the very same day. Together, they represent 1% of the approximately 200 individuals worldwide who have officially been diagnosed with this condition.

Yet, new findings from the Rare Genomes Project indicate that the genetic mutations on the GBE1 gene, responsible for APBD and its childhood equivalent Andersen Disease (Glycogen Storage Disease Type IV), may be far more widespread. Genetic modeling suggests that over 26,000 people globally might carry these mutations silently, many of whom remain undiagnosed.

Navigating Life with APBD: An Adjusted Reality

Currently, Jeff’s life has evolved significantly. Over the years, his vision has deteriorated to the extent of legal blindness. Once able to read physical books and grade papers, he now depends on screen readers and assistive technology. Bladder complications stemming from the disease necessitated the surgical insertion of a suprapubic catheter and a bladder “pacemaker” to support urinary function. Issues with stability compel him to use a cane, especially in public settings.

In spite of the physical and emotional challenges, Jeff’s spirit remains steadfast. He abides by a motto that has transformed into both a personal mantra and a public rallying cry: “Do what you can, while you can. Don’t wait.” Rather than permit his diagnosis to dictate the boundaries of his life, Jeff persistently seeks joy and meaning. He recently embarked on a transatlantic cruise with his sister and mother—an adventure to celebrate life beyond medical obligations and constraints.

With music still flowing through his essence, Jeff is currently working on recording an album of original songs, handling vocals and guitar. Music, akin to teaching and running