Prediagnosis
Cross country and track career
Throughout my life, I had always displayed symptoms of a manifesting carrier for Duchenne’s Muscular Dystrophy, but it was not until I started running cross country and track that my symptoms, aside from my enlarged calf muscle, became noticeable. From eighth grade to all the way through my high school career, I ran cross country and track. Although I enjoyed it immensely, I was one of the slower runners on the team, I did not progress like the rest of my teammates in terms of speed and endurance, and I had a unique running gait. My endurance and running pace did improve over the years, but I was never a varsity runner and often ran alone during workouts.
Up until I received my diagnosis during my senior year of high school, I noticed a few things that I experienced that my other teammates did not seem to be experiencing during workouts. For one, I noticed that I would become more fatigued during the first 10 minutes of the workouts compared to my teammates who seemed to be doing just fine. Another thing I noticed was that my calves would also become really sore, even if I was only a few minutes into the run.
Elevated Liver Enzymes?
Unrelated to my cross-country and track career, was my medical dilemma revolving around my elevated liver enzyme levels. It all started when I got my blood drawn to determine whether or not I had a seizure disorder. Not only did my lab work confirm that I did not have a seizure disorder, but it also indicated that my liver enzyme levels were slightly elevated from the normal level. It was from that point on that I would get my blood drawn to see if the liver enzyme levels were still elevated and if there were any conditions that were underlying my liver enzyme levels.
After several blood draws, I ended up meeting with a liver specialist who after ordering another blood draw, suggested that I should get a liver biopsy to get to the root of the problem. On the day of the biopsy, I got my blood drawn to determine if my liver enzyme levels were still elevated prior to going in for the procedure. However, the plan for undergoing a liver biopsy changed when the specialist called a meeting with my mother and me. It was during this meeting that I found out that I had elevated creatine kinase (CK) levels, which are the amount of creatine kinase (CK) enzymes that are released when muscle tissue becomes damaged. As the specialist determined that my elevated creatine kinase levels (CK) were causing my liver enzymes to become elevated, she referred me to a neurologist to see if I had a mitochondrial disorder.
Diagnosis
When the time came to see the neurologist, I was walked through several gross motor exercises including hopping on one foot, walking, toe walking, and heel walking, as well as a few muscle reflex exercises. A few months later, my mother and I received a call from the neurologist with news that I was a manifesting carrier for Duchenne’s Muscular Dystrophy, a rare condition that only affects a small number of female carriers. He explained that I had a genetic mutation in the Dystrophin gene, which is a gene that lives on the X chromosome. This meant that my body was not making enough dystrophin, which is a protein responsible for strengthening muscle fibers that are used for movement and cardiac muscle. Lack of dystrophin causes muscle fibers to metabolize, leading to fatty tissue replacing muscle, which weakens muscle tissue over time. Unlike a normal carrier for Duchenne’s Muscular Dystrophy, I am mildly affected by the disease as I exhibit symptoms that are typical of someone with Duchenne’s Muscular Dystrophy, such as muscle weakness, fatigue, and enlarged calf muscles.
In addition to these symptoms, my body was breaking down muscle tissue, which was causing my creatine kinase (CK) levels to become elevated. This in turn was also causing my liver enzyme levels to become elevated because of the release of creatine kinase (CK) into the bloodstream. Along with my diagnosis, the neurologist also prescribed some medication that I take daily to help restore muscle function in my body because my symptoms can gradually progress, affecting my mobility and motor coordination over time. As being a manifesting carrier for Duchenne’s affects all the muscles in my body, I also have to keep track of my cardiac health as I am at increased risk of developing heart problems later in life.
What I have learned so Far…
Being diagnosed as a manifesting carrier for Duchenne’s Muscular Dystrophy gave me answers to questions I had about myself throughout my life. When it came to running cross country and track, I realized that there was a reason why I was not running as fast as my teammates, having muscle cramps, and becoming easily fatigued. Being a manifesting carrier had slightly impacted my endurance, running pace, and gait. In addition to my athletic performance in these sports, it always took me longer to learn dance when it came to auditioning for both my school’s and community musicals.
Being a manifesting carrier for Duchenne’s Muscular Dystrophy has also affected the smooth muscle tissue that lines my GI tract, resulting in my body having a slower metabolism compared to a normal carrier. This means that it takes my body longer to digest food and break down substances such as alcohol. Because of this, I have to watch my alcohol intake as I experience the effects of alcohol faster than the average person.
If I ever decide to have children, I would need to consider the likelihood of one of my offspring developing the disease or becoming a carrier for Duchenne’s muscular dystrophy. For example, there is a 50% chance that a female offspring will become a manifesting carrier and another 50% chance that a male offspring will develop the disease. In other words, if the offspring is female and receives the mutated copy of the dystrophin gene, then they would be a manifesting carrier for Duchenne’s muscular dystrophy, while if the offspring is male and receives the mutated copy, then they would develop the disease.
Being diagnosed as a manifesting carrier for Duchenne’s Muscular Dystrophy has taught me to be resilient in life and the importance of focusing on my health and well-being as needed. By sharing my experience with being diagnosed as a manifesting carrier of Duchenne’s Muscular Dystrophy, I hope that my experience will be helpful to anyone who may be experiencing symptoms.