THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
My name is Andy and I’m a 31 year old male with LGMD type 2B. Here is my story of how I came to my diagnosis.
I was an extremely active teenager who played soccer year round. Starting when I was about 16 years old, I began to notice that I was not as fast as I used to be. I had always been among the fastest on my team. In my mind, I attributed the loss to eating more junk food and not training as much as I had in the past. I quit soccer my senior year of high school to work in a restaurant to earn money for college.
Throughout my years in college, I noticed a gradual decline in the strength of my leg muscles. My mom would also comment that I began to walk differently. I would go through periods of a month or so when I would go to the gym regularly to try to rebuild my strength. No matter what I did, I didn’t feel any improvement. Again, I dismissed that anything was wrong with me. I just thought I wasn’t trying hard enough. I would get discouraged and would quit working out. I had many distractions at college with school work, working part time and socializing with friends that I just tried to ignore the fact that I was becoming weaker year after year.
I moved to San Diego after school with a couple of friends and after settling in, I decided to join a local gym and really put forth the effort to make a change in my body. But no matter how long I worked out lifting weights or riding a stationary bike (by this time I could no longer run) I never saw an improvement in my strength. I lost weight and I felt better but I couldn’t put on muscle mass anywhere. I knew I needed to see a doctor about my condition but since I didn’t have medical insurance, I chose to put my concerns in the back of my mind.
At 25 years old, I relocated back to the Seattle area and took a job that had full benefits. I finally went to a physician and told him about my concerns. He ran some blood work and noticed that my creatine phosphokinase (CPK) levels were off the charts. He said that this might be an indication of some type of muscular dystrophy. Initially I was devastated to hear that I might have an incurable disease. I had always hoped that whatever it was that was causing my muscle atrophy, it could be cured. He set up two referrals, one was with a Rheumatologist and the other was with a Neurologist. The Rheumatologist ran some blood work and determined that I didn’t have a blood disorder. I saw the neurologist and I underwent several rounds of electromyography (EMG) over all different muscles in my body. He then referred me to another Neurologist who ran the MDA clinic at the University of Washington. I had to wait 6 months before I could see him.
I tried to pass the time not thinking about my condition. I went through a ton of different emotions from anger to frustration to self pity to confusion to sadness. I kept asking God “why me?”. I thought that if you were born with MD, the onset was from birth and you would show symptoms early on in life. I saw the second Neurologist and he performed a few more rounds of EMG and took what seemed like 20 different blood samples. And then I had to wait again. There are only a few labs across the US that test for different types of MD. While waiting to hear back on the blood test results, I underwent a muscle biopsy on my thigh. My doctor told me that I likely had a type of LGMD given all the information he had. A little after a year from my first doctor appointment, a blood test came back confirming LGMD type 2B. I was 26 years old.
Today I try to lead as normal of a life as I can. I have a great career that I love and is accommodating to my disorder. I have a beautiful 19 month old daughter and 3 wonderful stepsons in my life. I have an outstanding best friend who reminds me not to dwell on what I can’t do but on all the things I can do. She has helped me to live my life the way I want to and to not feel limited by what I can’t do. I thank God for every day I’m here on this earth and I try to take life one day at a time for no one can foresee the future.