By Sarah Williams

[Editor’s Note: Our thanks to Kerry Wong for featuring Sarah Williams’s APBD narrative in her newly published book, “Kaleidoscope: Rare Disease Stories.” The book is a collection of first-person stories from people around the world living with a variety of rare diseases. Thanks Kerry and Sarah for raising the public profile of APBD and other rare diseases!]

I was always active and enjoyed two varied careers: one as the founding teacher of two critical language programmes, one on each side of the Atlantic, and one as a coordinator for arts and education projects. I thrived on the energy, creativity, and interaction involved in both.

Outside of work, I practiced yoga, swam, and enjoyed long walks in the beautiful outdoors. I volunteered with children, families, and schools. I wrote short stories and poetry, danced, and sang in choruses and smaller a cappella groups. I organized large events, thrived under pressure, and enjoyed socializing, traveling, and attending arts events.

Life was busy and fulfilling, full of creative activity, productivity, and the warmth of those around me. When my children were born, an extended career break allowed me to spend quality time with them before going back to work, taking on two part-time jobs: teaching foreign language and organizing enrichment, marketing activities, and publicity for the school where I was based.

But then I began to feel unwell. I did not feel exactly ill. Sometimes, though, my limbs felt too heavy to move, and all I could do was lie in bed for days at a time. Then, I noticed a tingling in my toes, which evolved into a near-constant burning sensation in my feet and hands. Work became more difficult, and my absences increased. No doctor could identify what was wrong or see how the symptoms might link together.

At the same time my mystery illness was appearing, my brother was referred to a neurologist following a routine eye exam and was informed that he had multiple sclerosis (MS). For three years, he gave himself injections, which frustratingly offered no symptom relief while causing debilitating side effects. Eventually, he flew to John Hopkins in Baltimore, Maryland, to consult an MS specialist, who told him that he did not have MS but rather some sort of genetic illness. Fortunately, a colleague who specialized in hereditary illnesses was able to see my brother right then and there. She confirmed the opinion, although none of the tests she conducted provided a positive diagnosis. What was happening to my brother was also a mystery.

Part of my brother’s testing included a nerve conduction study, which showed abnormalities in his peripheral nerves. In what seemed like a coincidence, at the same time, I was suffering from plantar fasciitis. After failed attempts at treating it, I was referred for my own nerve conduction study. During that test, the technician paused for a moment and asked if there was any diabetes in my family. I said no, but that my brother had a mysterious hereditary illness. He advised me to consult a neurologist as well, and my heart sank.

The results of my nerve conduction study closely resembled my brother’s. As no root cause could be found for either of us, in 2010, we were referred to a lab at the National Institutes of Health (NIH). Our father, who also showed signs of peripheral neuropathy, was invited to attend with us. We were given genetic counseling, full neurological exams, MRIs, blood tests, and neuropsychological testing. My brother’s and my brain MRIs showed white matter changes, although our father’s was clear.

Our DNA was checked for the most common neurological illnesses that fit the bill. Still, year after year, despite return visits to NIH, repeated gene sequencing using evolving techniques, and examination of extended family members, we still had no diagnosis. After nearly ten years, we were called back to NIH and told they had identified our faulty gene, GBE-1, and that we had adult polyglucosan body disease (APBD) an extremely rare adult-onset glycogen storage disease (GSDIV) that causes progressive, degenerative neurological symptoms. It is a recessive illness, meaning that both of our parents had to be carriers of the mutated GBE-1 gene. Apparently, though, my brother and I had inherited the faulty gene from one parent and a faulty ‘connector’ from the other, resulting in us suffering from the even rarer intronic variation of APBD, which had only been recently identified.

Even though we were informed there was no known treatment or cure and that very few medical professionals were even aware of APBD’s existence, we felt a degree of relief and even elation that, at last, we knew what we were dealing with, and especially that all of our children would most likely be spared the disease. Still, nothing could be done for us apart from managing a few, but not all, of our symptoms. We learned that our conditions would deteriorate and that our lifetimes would be limited. Our team at NIH had no experience with APBD and suggested that we contact the APBD Research Foundation, which provides support, advocacy, and research funding.

As I live on the south coast of England, the ten years of searching for a diagnosis meant traveling back and forth to the US for appointments NIH. Since then, however, I have been under the care of a team of consultants at the National Hospital for Neurology and Neurosurgery in London, also known as Queen Square. Locally, I have been offered physiotherapy, occupational therapy, and psychological counseling.

Life has changed. I fatigue easily, my balance, bladder, and bowels are all affected, and my mind is losing clarity. I no longer work and am more socially isolated. Although I can still walk short distances with a cane, I now use a wheelchair to travel any further. Getting a wheelchair was an enormous step emotionally but has turned out to be a great help, allowing me to engage a bit more with close friends and family, to enjoy some travel, and to attend more arts events, which I have always loved.

Living with APBD and its progression means continually having to re-evaluate and redefine my life and sense of self, having to let go of work, ambition, and hopes for the future, and learning to live with a constantly shifting ‘new normal.’ Without a treatment or cure, I know that, at each moment, I am at the best I will ever be, and I am determined to live life as fully as possible for as long as I can.

To order your copy of Kaleidoscope: Rare Disease Stories click here.

*Reprinted with permission from Kerry Wong, author of Kaleidoscope: Rare Disease Stories 

Get research news updates from us!

    Sign up for Updates: