Pompe Background

From the time I was very young, I felt I was physically different from the kids around me. I have distinct memories from kindergarten (so around age 5) when I was unable to skip on the playground. My kindergarten teacher was instructing us how to do that maneuver and, while my brain fully understood, my body wouldn’t comply.

My family relocated from southern California to northern Virginia in 1969 and it was there that I attended grade school. As part of the Virginia physical education curriculum, we were required to complete annual physical fitness tests that included measured performance in all sorts of activities including push-ups, sit-ups, chin-ups, and running races including the 50-yard dash and the 600-yard walk-run. So as early as first or second grade, it was evident that something was different with my body. I was well behind the curve performing push-ups and sit-ups; I was unable to do chin-ups at all. And in running races, I was almost always that last person to cross the finish line … and, when I did, I was completely exhausted and winded.

As I entered middle school and later high school, the progression of my muscle weakness continued. With that progression came serious social consequences. The American school system rewards compliance and exceptional performance; likewise, it discriminates against sub-par performance and those who are different from the mainstream. By middle school, I started to be ranked out among my peers and victimized for being awkward and unable to perform physically like others. I took a lot of bullying during those years. Conversely, my mind was developing at a pace well beyond my peers. That and the fact that I was a middle kid in a six-child family, I was learning how to compete intellectually … perhaps developing more in those ways to offset my physical deficiencies. At school, I was able to reduce bullies by dismantling them intellectually and verbally humiliating them in fairly short order; these techniques became my methods of defending myself. Often, this led to increased physical punishment but I earned some respect among my peers for fighting back in the only way I could.

Middle school offered opportunities for me to excel, however. By sixth grade, I had entered the music program. I took up the clarinet and quickly rose to the top of my class. I was positioned at first chair – a ranking I would hold through high school. Later in life, I would lose the strength of my diaphragm and struggle to breathe but in grade school, I had exceptional breath control.

By high school, music became the focus of my life. By tenth grade, I played in my high school’s Concert Band, Varsity Band, Symphonic Band and, a year earlier, I had received the rare honor of being selected as a freshman to join the prestigious Marching Band. My original instrument was the Soprano Clarinet. But as I followed the musical path, I picked up the Alto Clarinet and the Contra Bass Clarinet, excelling equally on each of those instruments. In the Marching Band, I stuck with my Soprano Clarinet. Our Marching Band competed statewide and earned high honors, but we also played at our high school’s Friday night home football games. In those days (in the mid- to late-70s), being in the Marching Band and performing on Friday nights carried with it somewhat of a superstar status. And so, while I was never capable of participating in sports, I had an enviable position in the culture of Friday night football games. In my musical circles, I was quite popular, and it was among my musical peers that I spent the majority of my time. I also excelled in my studies; I always did well in school. But being smart wasn’t cool in grade school and I typically downplayed that I had capabilities in that area.

In high school, I was still required to take physical education (PE) classes one period a day. That hour of every high school day was the source of enormous emotional stress and anxiety. It was there that my weaknesses glared and where I took no end of teasing, bullying, and verbal and physical abuse. I learned early on, to avoid situations and circumstances that would accentuate my physical weaknesses.

In my junior year of high school, my family relocated from Virginia to California. I was emotionally distraught over this change. California’s school system had been stripped of funding for their arts programs including music. So, where I had had an arena where I could shine in Virginia, there was no equivalent in California. I promptly retreated into myself. One of the few benefits that accompanied this life-altering change was that, as a California high school junior, I was no longer required to take physical education classes. I simply kept to myself and graduated from high school the following year. That was 1981.

I went into college right out of high school; California’s Community College system was essentially free in those days. In college, I was liberated from the competitive nonsense that defined high school. There, my intellectual abilities took center stage and I remained on the Dean’s list from start to finish during my ten-year college career. In 1983, I earned my Associate’s (AA) Degree in Natural Science and transferred to California State University, Sonoma (Sonoma State University). Two years later, I graduated from SSU with Distinction, earning my Bachelor’s (BA) Degree in Anthropology with an emphasis in Archaeology. I was an Archaeologist. I continued on at Sonoma State, entering their graduate program in Cultural Resources Management (CRM).

While I continued to excel in the classroom and was consistently earning high marks there, the physical demands of a blossoming career in Archaeology quickly came into conflict with my physical abilities. I was a relatively active graduate student; in addition to conducting field surveys and participating in archaeological digs, I was also an avid camper and back packer. By this time in my life (about 22 years old), though, the progression of my muscle weakness had cost me the ability to run. Climbing stairs had become much more difficult and I was reliant on using the rail to ascend any staircase, even those with just a few steps. I also began to lose my balance with increasing frequency and took to falling. I am a tall man – standing at 6’4”. Falling from that height often resulted in bruising, scraping, wrenching and injury … not to mention embarrassment and persistent fear and anxiety. Once down, trying to get my body upright again was becoming increasingly difficult if not impossible. It was also about this time, that I first started noticing that my breathing was growing increasingly labored. When I would shower and the steam would build up, I would literally start gasping for air. And when I would exert myself, I would feel a weight on my chest where I would have to work two or three times harder to fill my lungs.

As I was growing up and living in the mind of a child and young man, I just lived with the fact that I was seemingly different from everyone else around me. At some level, I think many young people feel that way. We struggle internally but there are no easy answers to that rather-universal experience. In my case, in addition to the normal feelings of being different, there actually WAS something very different going on inside my body that was manifesting as progressive and serious muscle wasting. But in my mind, my physiological differences just got mixed in with all the other feelings of adolescence. None of my teachers, physical education instructors, pediatricians, or even my family were detecting anything exceptionally different and so no efforts were made to investigate my deteriorating strength.

But by the time I was in college and was learning to differentiate my own personal path from what was clearly going on with my body, I began to ask more critical questions.

  • Why had I always lagged behind everyone around me … my siblings … my friends … my classmates?
  • Why (if I was as physically active as I was) was I falling so far behind others in my social circles?
  • Why, no matter how hard I tried … no matter how much I exercised … no matter how much I practiced doing things more deftly … was my condition getting worse … and worse … and worse?

I was in my 23rd year of life when I began to actively seek answers to those questions. That journey led me down a rabbit hole that would last another 26 years.

~ Brian

… continued … see Diagnostic Journey