I have always been a performer at heart, starting with theater in school. For 28 years, I was a law professor at Indiana University in Indianapolis, and teaching gave me a captive audience. Beyond the classroom, I have always been passionate about music. I play the guitar and sing, and back in the day I was part of a band. I was also a distance runner and dreamed of completing a marathon. But over time, things began to change.

In 2006, I noticed some oddities in my vision. There would be a purple spot in the center of my sight, and on bright days, everything would take on a pinkish cast. Looking back, I also remember feeling a tingling sensation in my feet, though I did not think much of it at the time. When I visited my eye doctor, she advised me to see a neurologist. In 2007, I went to a neurologist at New York-Presbyterian/Weill Cornell, who diagnosed me with multiple sclerosis (MS). That turned out to be wrong, but at the time I had no idea just how long the road to an accurate diagnosis would be.

I started MS treatment and gave myself weekly injections for a little over two years. But the longer I lived with the diagnosis, and the more research I did, the more doubts I had. My symptoms did not seem to align with those of MS, and the treatment did not seem to do anything other than make me feel sick one day every week.

Searching for answers, I flew to Baltimore in 2009 to meet with the head of the MS practice at Johns Hopkins. After a battery of tests, including a lumbar puncture, nerve conduction studies, and vision tests, the doctor confirmed my suspicions: I did not have MS. However, he could not figure out what I did have. While some conditions were ruled out, such as Charcot-Marie-Tooth disease, I was still without a diagnosis. From there, I was referred to the NIH, where the doctors were just as puzzled. The head of the neurology division even told me that I was “a very interesting person.”

Over the years, I continued to visit both Johns Hopkins and the NIH. But each year, I underwent more tests with no answers. Part of me wanted to know what was going on with my health, but another part of me was afraid of the answer. I wanted to hold on to hope that things might turn out OK. Finally, in 2018, another round of genetic tests diagnosed me with Adult Polyglucosan Body Disease (APBD), an ultra-rare neurodegenerative condition.

APBD occurs due to a deficiency of glycogen branching enzyme, which causes polyglucosan bodies to accumulate in muscles, nerves, and other tissues. This leads to progressive dysfunction of the central and peripheral nervous systems, manifesting as loss of sensation, muscle weakness, difficulty walking, incontinence, and sometimes cognitive decline.

While having a diagnosis after so many years of uncertainty should have been a relief, it did not feel that way. I had never heard of APBD, and it seemed like even the doctors knew little about it. The diagnosis felt effectively meaningless to me at the time.

While I was searching for an answer to my symptoms over the years, my sister was also experiencing neurological symptoms, but they were different from mine. Consequently, we assumed that we had different conditions. On the same day I received my diagnosis, my sister was also diagnosed with APBD. Interestingly, as time went on, our symptoms have converged in many ways except in the area of vision loss. It is surreal to think that there are only around 200 diagnosed cases of APBD in the world, and my sister and I make up 1 percent of them. According to a Rare Genomes Project study, we now know that the global genetic prevalence of all diseases caused by changes on the GBE1 gene, including the adult-onset form (APBD) and childhood forms (Andersen Disease) of Glycogen Storage Disease Type IV, is estimated at 26,000 people worldwide.

Although vision loss is not a common symptom of APBD, the doctors believe APBD is the cause of my visual issues since the disease can affect nearly every part of the nervous system, including the optic nerve. I have significant thinning of the retinal walls and pallor in my optic nerves. I also have white matter lesions in my brain, which are known to occur in APBD. Some of these lesions are in the part of the brain responsible for processing visual signals. The combination of optic nerve damage and the white matter brain lesions leads to significant vision loss.

At the time of my diagnosis, my symptoms were still mild enough that I could drive, but I was no longer able to read printed books. Over the years, my vision has gradually deteriorated to the point where I am now legally blind. I rely on screen readers and voice-assist technology. Along with this, my bladder has become increasingly difficult to control, and I now use a suprapubic catheter and a device that works like a pacemaker for my bladder, helping it contract. My balance has also worsened, and I use a cane when I am out in public. It feels like a big step to start using a cane at home, but I can tell that I will soon be at that point.

Despite these challenges, my motto has become, “Do what you can, while you can. Don’t wait.” It is something I believe everyone should live by. While I miss teaching and running, I have found ways to fill my time with other interests. In October, I went on a transatlantic cruise with my sister and mother, and I am currently in the process of recording an album with my own music—lyrics, vocals, and guitar. My goal is to focus on the things that I enjoy doing and do them to the fullest. Surprisingly, living with APBD has made me more patient. While I face daily, ongoing challenges, I do my best to take them in stride and make the most of what I have. Life may not be what I expected, but I am finding ways to make it meaningful.

Jeff Cooper is a patient advocate.