- Pub. Date:
Mitochondrial myopathies encompass major muscular problems, but so much more. This book is about the journey of a woman to uncover the source of her hereditary disorder. It was an illness that unflaggingly plagued her family for generations. Initially intermittent and invisible, with time, it morphed into a disease with severe and life-threatening symptoms. She endures false starts and numerous dead-ends, as she sets about discovering the origin of this mysterious illness dating back to her great-grandfather, who served in the Civil War. His early disability pension application included several notes from physicians documenting his difficulties in detail. Their observations provided essential and defining clues to his disability. An accurate diagnosis is often challenging to find. The writer shares her story, hoping it may help someone else to know they are not alone as they initiate their search in this broad and perplexing area. To further complicate the matter, some diseases are not yet recognized. Every delay in diagnosis, she notes, puts off a better future. As a communication sciences specialist, the author chronicles life with her disease from personal experience and an informed professional perspective. To her, it was as though she had prepared for this illness her whole life.
With my illness, my body spun an alternate universe, and with time, the new reality expanded with each new symptom or twist and turn. Other complications loomed, and their intricacies were so numerous as to take my breath away. The disease created a universe of alternate senses with no cancellation option available. Soft fabrics burned my skin, while perfectly normal-looking skin itched. Blistered skin may not hurt at all. For no discernible reason, lightning pains chose to strike quickly and deep in new and unanticipated places, leaving me to wonder if I had a new problem or just another transient incident.
One day, without warning, I blacked out and then promptly regained consciousness, wondering, "What just happened here?" It was a mostly unforeseen problem that could cause serious injuries. It was also uncontrollable to no small degree. Numbness and tingling were near constant companions, necessitating having to scan for unfelt injuries periodically. Warned that if my shoes were too tight, they could cause wounds capable of bringing about my early demise, I changed them every day.