THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
I was diagnosed with Miyoshi myopathy 17 years ago after several events.It began when I donated blood at a college blood drive and two weeks later received a note to visit student health where my blood was rejected. The nurse ushered me in the other room and was very somber and asked about the potential for hepatitis. I told her there was none, but she insisted that I had hepatitis. At the same time my brother who is three years older was being refused by an insurance plan due to his extremely elevated creatine kinase, a muscle enzyme count. All doctors pointed to a liver disease and they wanted to conduct a biopsy of the liver. Fortunately a regional doctor requested my brother to walk on his tippy toes and he could not.
From there the testing began. First we went to the University of Iowa hospital for electrical muscle shocking and surgical biopsy. We also went to the Mayo Clinic in Rochester MN for further analysis. Once the biopsy results returned the doctors concluded that my brother had Miyoshi Myopathy and they assumed I did as well. The Jain Foundation finally did confirm my diagnosis two years ago, which they orchestrated through doctors and funds, by analyzing my dysferlin gene to find the underlying cause of my muscle problems.
Although the progression of muscle atrophy has been slow over the past 17 years, the effects on my gross motor skills are now becoming very apparent. I have not been able to run or jump since college, but now normal functioning is difficult. I am unable to walk on uneven surfaces, falling is becoming more common, and getting up from a fall is exhausting. All walking is in a lock step motion and I must concentrate not to drag a foot, which causes me to fall. My arm muscles have seen increased atrophy in the last two years which compounds the leg weakness. No longer can I rely on my upper body strength to push up from a sitting position or protect me from an accidental fall.
But, the real question is “What Can I Do?” That’s easy, I can do a lot. I am the father of six fantastic children, and a husband to an incredible wife. I swim laps with a great group of guys from work. I am in my final year in achieving a Masters Degree in Counseling. I help coach my 8-year-old’s baseball team. My wife and I teach the college Sunday school at church. I train employees about leadership and their commitment to be genuine leaders. I go off-road ATVing to get a little mud in my teeth. When I have the chance I like to farm (using modified equipment) with my brothers and Dad on the family farm.
Is it me? Of course not. It is the God who created me that allows me to excel through challenges such as Miyoshi myopathy or getting up to comfort a crying child. Don’t get me wrong; it’s tough, but if you arm yourself with the Creator of the world and a good support system the joy of life is never far at hand.
I am thankful for the Jain Foundation, who confirmed my assumed diagnosis. I am hopeful in waiting for God’s healing hand whether through miraculous or the effort s of His people’s hard work through the Foundation in research and medical intervention.