Imagine your first day of high school, the excitement of new friends, extracurricular activities, school dances and more. For me, high school started with unexplained and uncontrollable vomiting. Instead of new friends and extracurricular activities, there were new doctors, lab tests and surgeries. High school soon became a desperate search through the country for a diagnosis.
As my classmates struggled through algebra and finding dates for dances, I suffered through trial treatments and getting dates with top specialists. Eventually, a team of doctors at Case Western University managed to control my symptoms. I finally got to high school and enjoyed the excitement of my upperclassman years. However, college was not in my future.
Suddenly, I could no longer trust my body. My heart rate would drop to 18 beats per minute and my blood pressure would plummet, rendering me unable to walk around the house without falling unconscious. At age 22, I was diagnosed with third-degree heart block and received a pacemaker. While the pacemaker was lifesaving, I suffered next what appeared to be stroke-like symptoms and seizures. These problems persisted and spread to the rest of my body. Issues with my kidneys, pancreas, and GI tract crippled my ability to enjoy simple things.
The search for a cause began again. There were numerous emergency room visits, hospitalizations, missed holiday celebrations and milestones. I eventually dropped out of all activities and was confined to bed. In the fall of 2012, I was diagnosed with mitochondrial disease. It results when a defect reduces the ability of the cell’s mitochondria to produce energy. As the mitochondria fail to produce energy, the cell cannot function properly. If this continues, cell death eventually follows. Organs begin to fail and the life of the individual is compromised. Each year between 1,000 and 4,000 U.S. children are born with a mitochondrial disease and suffer from devastating symptoms. The mortality rate among children with mitochondrial disease varies from 10 to 50 percent.
Defects in mitochondrial function are also at the core of many common diseases. Therefore, research could open a new avenue to treatments for many. Mitochondrial dysfunction is implicated in Alzheimer’s dementia, Parkinson’s, diabetes, hypertension, heart disease, osteoporosis, cancer and the aging process itself. Even autoimmune diseases, such as multiple sclerosis, lupus and rheumatoid arthritis, appear to have a mitochondrial basis.
Acknowledging I have this incurable disease prompted another journey for me. Although this time, I was in control. While mitochondrial disease caused me to miss many milestones, I am determined not to let it dictate my life. I decided to start promoting awareness of and funding for mitochondrial disease research. I formally established a fund with the United Mitochondrial Disease Foundation to support research projects focused on finding ways to help manage, treat and ultimately cure it. Last spring, my fund gave nearly $20,000 to research at the Department of Pathology and Laboratory Medicine at Children’s Hospital of Philadelphia.
In the last decade, the foundation has awarded $10 million in grants to the most promising mitochondrial disease research proposals – leading to important new discoveries. I strive for my last journey to be supporting mitochondrial disease research and continuing to make a difference.