Jenny

JennyAround the age of ten, I began to experience abnormal heart beats. My heart rarely seemed to beat “normally.” I complained to my mom that my heart beat really fast and hard, especially during physical activity. This was a regular occurrence, since I played basketball year round and loved to run. I also noticed irregular heartbeats during times of physical stress; when I was hot, sick, hungry, etc. It wasn’t until I began passing out regularly, and for no apparent reason, that we became increasingly concerned. This kick-started a long, frustrating, and seemingly endless journey for the cause of why I went from a healthy and active kid to one who was, literally, incapacitated and unable to participate in many basic aspects of life.

I underwent months of testing, including multiple EKGs, stress tests, blood work, a tilt-table test, heart monitors, etc. After some time I was officially diagnosed by my cardiologist with supraventricular tachycardia (SVT). This diagnose is usually easy to identify, treat, and manage over time with medication. However, I quickly came to find out I don’t tolerate beta blockers well and long-term medication management of this disorder was not an option. After conservative medical treatment failed to return me to a state of “normalcy”, I met with a pediatric surgeon who agreed to perform a catheter ablation on my heart. This procedure was a blessing and I was excited to return to my old life without the frequent passing out, lips that periodically turned a bright blue, extreme fatigue all the time, arrhythmias of all different sorts, and a myriad of other heart-related symptoms.

Unfortunately, while successful at reducing my severe cardiac symptoms, the catheter ablation was not the final answer in my quest for the “normal” life that other kids took for granted. The procedure reduced the severity of my arrhythmias and reduced the incidents of passing out, but my profound and chronic fatigue lingered and other seemingly unrelated health issues emerged. I began to experience chronic, very painful muscles and joints and reduced reflexes in my extremities. I saw several specialists and endured a number of painful tests. A nerve-conduction test and a muscle biopsy both revealed abnormal results, but the underlying cause remained unidentified. Additional symptoms, including being unable to regulate my body temperature, extremities that would suddenly turn blue, chronic migraines, terrible muscle spasms and severe IBS made life miserable. I began to get sick with whatever was going around all the time and the standard response from each doctor was “something is wrong but I don’t know what.”

It wasn’t until the end of my senior year of high school that I was finally referred to a Geneticist for consultation. Dr. Boles was already treating my youngest brother, Bradley, for what had earlier been diagnosed as a Mitochondrial Disorder. In short order, Dr. Boles diagnosed me with dysautonomia, which is a common manifestation of a mitochondrial disorder. He put me on a medication and supplement regiment and taught me how to anticipate and manage my symptoms. Within three months, my life dramatically changed for the better. By identifying, diagnosing, treating, and educating me about my disorder, Dr. Boles gave me the tools necessary to live a relatively “normal” life.

I now have a Master’s Degree in Occupational Therapy and work full time in the acute rehab center of a hospital. I rarely get sick and have a migraine two to three times per year (as opposed to every day of my life). I exercise almost every day and am no longer limited by a disease that consumed my life for almost six years.