Understanding The Limitations Of A Person With Mcardle 's Disease
914 Words4 Pages
In 2005, my husband was forced to retire from a job at Georgia Pacific. This was a job that he had been working at for thirty-three years. The muscles in his arms were tearing for no reason that we knew of and he was having some other health problems. It was very upsetting to both of us not knowing the outcome about his health and now no income as well. We had seen many doctors on many different occasions. We kept hitting a dead end. Finally, we were able to see a new doctor, a neurologist, and after examining my husband, he immediately said to my husband, "you have McArdle 's disease." It was a term that I was not familiar with at all. My heart dropped and I was not sure what we were up against. Understanding the limitations of a person with McArdle 's disease is the best way to live with it.
What is McArdle 's disease? It is a rare skeletal muscle disorder (Choleva, A.J. 2011). 1 in 100,000 persons is affected by the disease. The disease gets its name from Dr. Brian McArdle. McArdle 's disease is caused by a missing enzyme, myophosphorylase C. This breaks down glycogen (which is the body form of stored energy) into glucose (sugar).
People who have McArdle 's disease often appear lazy. Just to look at them, they seem to be very healthy. In order for someone to have the disease both parents would have to have the defective gene. This is called autosomal recessive inheritance pattern ("McArdle 's Disease Overview & Facts" June 2014). You are born with the disease but some