A son's story

Abstract

“Creutzfeldt-Jakob disease? You’re telling me that my mother is dying from Creutzfeldt-Jakob disease?!” It has been a little over 2 l/2 yr since Mom’s death and, although I have come to accept the absence in my life of this magnificent woman whom I loved for so many years, I still find the onset, course, and outcome of her illness so incredible. But there it was in bold print on the autopsy report-“massive cortical gliosis with severe neuronal loss and minimal spongioform encephalopathy consistent with Creutzfeldt-Jakob disease.” How could this be? Where did this come from? Why her? My questions were those not only of a grieving son but also of a perplexed clinician who, having practiced emergency medicine for just over a decade, had witnessed death more frequently than most of his colleagues in other specialties. But people are supposed to die from cardiovascular disease, metastatic cancer, respiratory failure, or multiple trauma, I thought. Nobody contracts those one-in-a-million, untreatable, uniformly fatal diseases that are only found in medical textbook print and possibly a very remote corner of the world. At least nobody I knew. . . certainly nobody I loved. When initially informed by my older brother, a general surgeon, that my mother’s neurologist suspected Creutzfeldt-Jakob Disease (CJD), I remember instantly recalling (almost humorously) my days as a medical student in Philadelphia preparing for part I of the National Board Exams. I recognized the malady, CJD, as some kind of “slow virus” (whatever that is) that resembled a bizarre type of encephalopathy found in sheep-or was it that weird disease having something to do with the cannibals of Eastern New Guinea (wherever that is). In any case, I was quite sure that this preliminary diagnosis was not only inaccurate but almost ludicrous. The scientist in me wanted to believe that the symptomatology was consistent with a rather premature onset of Alzheimer’s disease with Parkinsonian features. Her son wanted to believe it was merely signs of stress. After all, Mom was not only working hard as the director of nurse education at an extended care facility but had also just watched her youngest child and closest companion leave for college 3000 miles away. With a little time off, perhaps a mild antidepressant medication and a few extra visits from her beloved grandchildren, everything would be alright. 1 was wrong. What began as a myriad of seemingly benign. vague symptoms-anxiety, fatigue, and impaired judgement (prompting our family to insist she stop driving her car) -gradually progressed to obvious memory loss and unusual, often childlike, behavior. With ;I totally normal work-up in progress including blood tests, lumbar puncture, computed tomography scan, magnetic resonance imaging, SPECT scan, and initial electroencephalogram (EEG), our medical consultants conjectured that my mother’s condition was of a psychological nature. The psychiatrist said it was organic, and, soon after, with the rapid advancement of her dementia and the onset of extrapyramidal signs such as rigidity and dysarttia, it became evident that it was, in fact, a significant neurological illness. But it wasn’t until the development of myoc-