By Ann Cooper
February 17th, 2023

After my first grandchild was born, my daughter, Sarah, and I were sitting in her living room one afternoon when she asked me, “Mom, when do you stop worrying about them?”  My answer, unsurprisingly, was “Never.”  

What is there to say about being the mother of not one, but two, adult children with Adult Polyglucosan Body Disease (APBD)? Obviously, it sucks. Two brilliant, kind, loving, giving, thoughtful, generous, and funny human beings who were misdiagnosed for years. Two people who face diminishing quality of a shortened life.

The road to a diagnosis was long and painful. My son, Jeff, was [mis]diagnosed with MS after an ophthalmologist noticed changes in his optic nerve. For several years, he endured weekly injections of interferon, which left him sick and weakened for two days each time. When it was finally determined that he did not have MS, he was admitted to a genetic disease study at the National Institutes of Health (NIH). In the meantime, Sarah was having serious problems with her feet. A nerve conduction test indicated that there were neurological issues, so she too was of interest to the NIH. The NIH was thorough, invited us all, even my third child who has no symptoms to have thorough physical, ophthalmological, and neurological workups. After ten years, they came up with the diagnosis of APBD.

How does APBD impact my two affected children? They are on pain meds, have urinary and bowel issues, have balance problems, experience constant fatigue, and suffer with peripheral neuropathy. Both are extremely intelligent but they now have trouble processing new information. Memory is not as sharp as it was. Social interactions are exhausting, sometimes more than physical activity. Both Jeff and Sarah use a cane when walking, even short distances. Sarah is finding a wheelchair liberating, as she can conserve her energy for when she arrives at her destination.

Do I wish it had been me not them? No, to be honest. Why waste a wish on the impossible? What I wish is that I live long and remain healthy enough to be of, if not help, then support. Had anyone heard of APBD when I was having children and had there been genetic testing, would I have chosen not to have them, to spare them—if it had been a choice? I cannot imagine my life without them. I cannot imagine the world without them, because it is a better place for them being in it. And I cannot imagine a world without my son-in-law and my grandchildren.

Do I feel guilty for having contributed to their illness? Silly question. For years, when the NIH was trying to figure out what was wrong with them, they assured me that it, whatever “it” was, came from their father’s genes. That didn’t seem likely to me, and I didn’t feel innocent then. But how would/could I/we have known? With only about 200 cases diagnosed worldwide to date, how could we have known in the mid-1960s? How many people are misdiagnosed or undiagnosed today?

So, I never stop worrying about them, even as I try not to hover.  Our relationship remains close. They are great company, and they look out for me as I do for them. I am buoyed by their example, even as their quality of life diminishes and presents new and ugly challenges.  Would I have had the energy, the will, and the intellectual capacity to continue teaching law as Jeff is doing?  Or, as Sarah does, to find joy and a creative outlet in crafting and gardening to make good use of the time she formerly spent reading, writing, and teaching. I know that when faced with challenges we all must adjust. But what they have done and continue to do inspires me.  Through everything they have remained entirely themselves; they have not become their disease.  I am blessed by their presence and their resilience.  My prayer is that through the work of the APBD Research Foundation something will be found in time first to halt the progress of this disease and eventually to find a cure.

Editor’s Note: Our thanks to Ann for sharing her experiences! A special thanks to Camille Keene, our SecondDay Fellow, for drawing out this powerful narrative with Ann.

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