Sharon Reeder was first diagnosed with Kearns Sayre Syndrome, a mitochondrial disease, on December 22, 1999. Sharon battled her symptoms for years, and even after her diagnosis, continues to face many symptoms including eyeball paralysis, heart arrhythmia, and severe muscle weakness. Despite affecting roughly 1 in 4,300 individuals, mitochondrial diseases often display non-distinct symptoms, mimicking other diseases.¹ Patients are often subjected to a number of medical tests and possible misdiagnoses. Sharon received her diagnosis finally, at age 35, after a doctor performed a DNA test on mitochondria taken from a muscle biopsy. Sharon compares her disease to a power outage in her home where sometimes the television will not turn on but the lights in the bedroom still work. Mitochondria are in charge of producing the energy needed by the body to perform its daily functions. However, with mitochondrial diseases a defect in the mitochondrial DNA causes inefficient energy production, leading to a reduced amount of energy within the body. The disease causes the organs in the body to fight for the small amount of energy that is available, resulting in poor functionality.

At the time of her diagnosis, Sharon didn‘t realize that 21 years later she would now have difficulty walking short distances and that going up and down stairs would become impossible. Sharon maintained an active lifestyle until her early thirties, and enjoyed daily walks, hiking and bike riding as well as tennis and aerobics. She has now lost the strength to hold up her head while walking, requiring her to support her chin with one of her hands. Each day Sharon selects her activities carefully knowing that they will not only make her physically exhausted but also force her organs to compete for energy. Even a simple task like going to the store can be a challenge for Sharon as moving her body causes her brain to suffer as it is competing for the energy going to her muscles, resulting in an impaired ability to think and process what is needed to navigate her surroundings.

Shortly after her diagnosis, Sharon reached out to the United Mitochondrial Disease Foundation (UMDF). After meeting Chuck Mohan, the group‘s founder, she shared with him her desire to become involved with the foundation and began her journey as an advocate for people with mitochondrial disease. She brought with her a background in events, meeting planning, and marketing, making her well-equipped to be successful in her work with the UMDF for the last 21 years. Sharon has since become a member of the Board of Trustees and held numerous other positions within the UMDF. She is driven in her advocacy, aiming to be of service to the mitochondrial disease community as well as finding satisfaction in helping other patients and their families navigate their diagnoses and medical journeys. Through her experience with the UMDF, Sharon had the opportunity to serve on the Mitochondrial Patient Committee with the U.S. Food and Drug Administration (FDA), which allowed her to further participate in the advancement of mitochondrial medicine. She began working with the Congressionally Directed Medical Research Programs when she was nominated by the UMDF to serve as a consumer peer reviewer in 2019. Sharon reviews for the Mitochondrial Disease topic area under the Peer Reviewed Medical Research Program (PRMRP). She says that one of the highlights of working with the PRMRP is the inclusion of consumer reviewers from many communities. The significance of the program and the power of the reviewers brought Sharon hope for the future of disease research. She reflects on how research has already made significant breakthroughs since the start of her work as an advocate. When she was diagnosed there was only one clinical trial available to people with mitochondrial disease. However, in the 21 years since being diagnosed dozens of trials have become available, and she has had the opportunity to participate in three of them.

With no cure or treatment for mitochondrial disease, Sharon and others with the disease face a gradual loss of their abilities as their condition progresses. Research focused on the links between mitochondrial disease and other major diseases particularly excites Sharon and she hopes for breakthroughs on the horizon not only for her disease, but also for other diseases studied in connection with damaged mitochondria. Sharon plans to continue her work and finds joy in serving as an advocate, consumer reviewer, and helping others along their journey. Sharon says, “[t]he fact that I have participated in every way I can, I have already WON,” – she lives by those words every day.

References:

¹ https://www.chop.edu/conditions-diseases/mitochondrial-disease