As an OB/GYN for the past 22 years, I have loved delivering babies, performing surgeries, and having long-term relationships with my patients. Now, I am on the other side of things, as a patient myself. I was diagnosed with adult polyglucosan body disease (APBD) in April of 2023 at the age of 59.
APBD is an ultra-rare, neurodegenerative disorder characterized by a deficiency of glycogen-branching enzyme. The result: an accumulation of an insoluble form of glycogen, known as polyglucosan bodies, in muscle, nerve, and other tissues. This buildup leads to progressive dysfunction of the central and peripheral nervous systems, manifesting as loss of sensation, muscle weakness, urinary difficulties, fatigue, and sometimes cognitive impairment.
Ten years ago, I began experiencing symptoms, mainly urinary difficulties, which I attributed to normal aging. However, time brought more signs that something wasn’t right. In the spring of 2021, while visiting my son at college, I needed to find a bathroom four times during the 4-hour drive. Then, during a hike with my wife later that year, I was lagging behind instead of leading the way as I normally did in the past. I felt unsure of my footing and gained stability when I placed my hand on the trees along the path. Next came a slight sunburn-like sensation on the tops of my feet. I could no longer ignore my body’s signals when I experienced two episodes of incontinence while sleeping.
My misbehaving bladder was so troubling that one day at work, I grabbed a bladder scanner ultrasound device to measure the amount of urine that remained in my bladder after I felt I had emptied it. It showed retention of about a half liter. No wonder I needed to void so frequently! A visit to a urologist suggested that I had a neurogenic bladder, and I was referred to a neurologist. The neurologist performed an electromyography (EMG) and nerve conduction studies. I was informed that these studies were very abnormal but still got no definitive answer for what was going on with my health.
Over the next few months, I had MRIs of my spine and brain, which showed white matter lesions, known as leukodystrophy, and atrophy of the brainstem. A lumbar puncture eliminated primary progressive multiple sclerosis (MS) as the underlying cause. My neurologist brought up a number of conditions that could be the source of my symptoms, but APBD was not one of them. With no clear diagnosis in mind, he offered to refer me for a second opinion. After an examination by a second neurologist and review of my MRI images by a neuroradiologist, I was advised to have genetic testing.
A test looking for genetic changes that cause adult leukodystrophy was performed through Invitae. It was an anxious five weeks of waiting to get results. Finally, I got the diagnosis from my neurologist: APBD. He suggested that I connect with the APBD Research Foundation for more information. When I spoke with them, we talked about how APBD is an ultra-rare disease and that research is ongoing to find treatments and cures.
Being diagnosed with APBD gave me mixed emotions. It was a relief to have a firm diagnosis with a name rather than just a group of symptoms. On the other hand, after learning about the clinical course of the disease and the absence of any treatment or cure, I felt troubled sadness. Finally, I came to think of people who face a diagnosis of advanced cancer and of children with rare diseases who will never grow up to be adults. While my diagnosis is bad, my future promises to be better than theirs.
My background in medicine has likely influenced my diagnosis and outlook. I think I was faster at recognizing the difference between normal age-related changes and symptoms suggesting a problem. I believe I was able to call upon specialists whom I knew and colleagues of those specialists to get diagnosed faster than average.
My background also helped me take action. I realized that performing intermittent self-catheterization would vastly simplify my lifestyle. I am researching lightweight travel scooters to improve my mobility. I am looking at changes to my house to make it more friendly to my disabilities.
Before my diagnosis with APBD, I imagined myself practicing obstetrics until around age 65. I envisioned a lot of walking and hiking for pleasure. These plans have changed. Another person with APBD advised me to “keep doing as much as you can for as long as you can.” That’s my goal. Last month, due to decreasing strength and stamina, I worked my final shift delivering babies. And then I went on vacation. With the help of an e-bike, I enjoyed six days touring around Nova Scotia. Currently, I am taking every day as it comes and making the most of each one.
Lawrence Arky is an obstetrics-gynecology physician.
