My journey with Pompe disease began just after high school. A routine metabolic and chemistry blood test indicated that something was wrong. The results came back showing elevated liver enzymes: AST, ALT, and LDH. This prompted a major workup to determine the cause of my “liver condition”. My abnormal blood chemistry continued for many years to mystify my doctors. At this time, I knew nothing about medicine or about the human body. I wasn’t particularly fond of the life sciences either. My abnormal blood chemistry led to an intense campaign on my part to try and explain what was going on with my body. My doctors continued for years, sidetracked, thinking I had a liver condition. My efforts helped steer my doctors to a specific diagnosis. Nearly five years later, at the age of 25 I was given the diagnosis of Pompe disease. Sometimes I wonder if I have over-reacted to my diagnosis. After all, I am in pretty good health. I guess my shy, sensitive nature, and the feeling growing up that I was so different than the others caused me to look towards my diagnosis as an explanation for why I felt this way about myself.
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