My Story of Living with Muscular Dystrophy

Background

My growing up years were marked by the normal activities of any kid who was athletic. I played basketball out in the driveway almost every day–even if I had to shovel off the snow first. I played soccer from preschool to high school. I went through swimming lessons from the baby classes until I was a certified lifeguard. I lived on two and a half acres of rolling wooded hills in which I would blaze bike trails and pedal my bike up the steep hills. Looking back now I can tell that I was a slower runner than even the inactive, non-athletic kids in my class. I was always second or third to last in all the races during elementary field day. I was also generally weaker in arm wrestling contests. But there was never any indication and I never would have imagined that I had a disease. I just blamed myself for being slower and weaker; it was just my lot in life.

Turning Point

In high school I began to have recurring knee injuries while playing soccer. But the reason for my dislocated knees was simply explained as my having floating knee caps. The last time I dislocated my knee was at the end of summer camp where I had been working on the grounds crew and as a lifeguard (I was 16 to 17 years old). All I did was plant my foot to swing my other leg to go over a three foot fence. As I pivoted my knee dislocated. I sat out of soccer my whole junior year and joined again my senior year of high school but could no longer run. My coordination and ability to kick the soccer ball for a shot had totally disappeared. I just blamed my knees and myself, never imagining I could have a disease out of the blue. I had grown up healthy all my life. The only thing I knew had changed was the multiple knee injuries.

A Revelation

In the summer of 2002 I returned to work at the summer camp as a counselor. I thought I just needed to work hard at getting back in shape. But I couldn’t run; I could only jog. I couldn’t play some of the games that required carrying kids. I blamed myself, not imagining I had a disease. In the Fall of 2002, I went on a college outing to hike a trail in the Smoky Mountains. I couldn’t even walk up a moderate to steep incline. My friends had to carry me. I still just blamed myself for being out of shape. I had changed from my athletic pursuits to completely academic pursuits—sitting in my dorm room studying all day every day to get a 4.0. That was my new competition. I knew my muscles had atrophied around my knee and that my eating habits at college stunk so I blamed that.

In 2003, my Junior year of college, I couldn’t carry boxes and climb the stairs at the same time. I had to have one hand free to pull myself up by the railing. So I got a first floor room and talked to my family doctor at Christmas. I was simply told to work out at the fitness center to strengthen my knees because I had slight atrophy around my kneecaps, which was still being blamed on old soccer injuries and a lack of exercise or poor diet at college. I worked out several days a week just on my legs. I could barely walk after getting done with a 20-30 min. work out on the leg press. In the summer of 2004, before my Senior year of college, I went to a physical therapist hoping that she could direct me on how to work out correctly and gradually strengthen my knees. When she saw me enter the room and walk to her, she immediately told me that I had a muscle problem and not a knee problem. I was elated—I could stop blaming myself and get to the bottom of the cause of this problem. I would get it fixed and go back to my normal athletic self.

False Diagnosis and Harmful Treatment

My family doctor ran blood tests and discovered elevated CPK levels—dead muscle in the blood (ranging from 2000 to 8000—above the normal high range of 200). After getting a muscle biopsy, which was inconclusive, and testing my nerves with an EMG, which were fine, I was diagnosed with Polymyositis. I was treated by a Rheumatologist with 60mg of Prednisone pretty constantly, with the addition of Methotrexate, for a whole year (2004-2005). I was treated with the promise that I just needed to gut it out to see if it would eventually work. When I felt like my muscles were only getting catastrophically weaker and I just wanted to die and my parents thought the Rheumatologist was killing me, they put a stop to the treatments. They took me to an internal medicine doctor who taught at Wayne State University’s medical school and who sat on many boards and spoke for the NIH. He was horrified at my treatment, which should have followed the basic principle of do no harm to the patient. I was diagnosed with Idiopathic Myopathy until a true diagnosis could be determined.

Recovery

My new doctor weaned me off all of the meds and put me on a vitamin regimen. I lost weight and began to feel healthy again. I could walk on level ground again without feeling like I would collapse at every step. I got back to walking fairly normal again for the next four or five years.

My internal medicine doctor, with a research specialty in infectious disease, researched and tested me thoroughly. My muscle biopsy was reviewed again at the University of Michigan by boards of doctors but was still inconclusive. My case was also reviewed by the Muscular Dystrophy Association but they couldn’t be sure of anything without genetic testing. However, I didn’t feel comfortable with doing genetic testing in 2008 because of 1) cost (This was during the economic downturn in MI.) and 2) insurance (I was losing my dad’s insurance and applying for individual insurance because I was turning 26.). I seemed to be fairly steady or only worsening very slowly from 2006 to 2012.

Downward Spiral Again

From 2011 to 2013 I was working 60-70 hours a week as a teacher. In 2012 I had to use a walker for the first time because all of a sudden I could no longer walk from my apartment a short distance to my car without collapsing. I rarely collapsed before this, but now I couldn’t walk at all without my knee giving out or my muscles stiffening up to just try to hold me up. It was a massive and sudden change that I could observe. It could be overwork as a teacher or just the disease running its course.

Genetic Testing

When I came back home to live with my parents in South Carolina I had to begin using a scooter to get around any lengthy distance. The scooter actually was a blessing because I was able to get out and do things that I hadn’t done in a long time. I had been just not going out that far since I couldn’t walk all that much. After getting the scooter I could go out on “hikes” again. It gave me a lot of freedom.

Soon after moving to South Carolina I met someone who recommended Greenwood Genetics and encouraged me to get tested to figure out what I really had. Since I had a job with good group health insurance I was willing to try it. It was through the grants at Greenwood Genetics that I was able to get, cost effectively, the whole exome sequencing. After over ten years of not knowing what I had, it was a relief to finally get a diagnosis: Limb Girdle Muscular Dystrophy type 2A (Calpainopathy). Since this is a recessive condition (only passed on from a mistake in both parents’ calpain gene), there was no family history and I’m unlikely to pass it on.

Continuing to Live My Life by the Grace of God

For many years I thought I would never be able to get married. Most people would keep me at arms length. Certainly most girls wouldn’t risk a friendship let alone a relationship (And my goodness parents jumped in to put a stop to anything as soon as something seemed to be going toward the slightest friendship). People fear the unknown and won’t take risks in relationships. The same is true of many employers. I felt very alone for many years.

That’s why I thank the Lord for bringing me together with my wife and giving me a wonderful family. I want to be a testimony to those who, whether they’ll admit it or not, degrade the sanctity of life in people like me. Many won’t degrade me explicitly, but when there’s skin in the game they won’t “risk” giving me a chance. My wife is to be praised for giving me a chance to develop a relationship and serve her as her husband.

You can hear more about my testimony of how I live with this disease by the grace of God in this video here.