I have always been an active person, particularly when it comes to exploring nature. Throughout my 20s, I was often backpacking, hiking, or going on long bike rides.
I first realized something was wrong when I began fainting while running. I couldn’t figure out why it was happening– I had completed several half marathons and was in good shape. Furthermore, the fainting didn’t seem to be tied to hydration, nutrition, or the distance I ran. It went something like this: one minute I felt great running through the streets of my neighborhood, and the next my heart was suddenly beating out of my chest, my vision getting cloudy. My body felt hotter than it should, and I felt pins and needles from head to toe. I’d stop running, my eyesight now almost completely dark, and the next second I was coming to, sprawled out on the concrete.
At first, the doctors could not figure out why this was happening either. All my tests came back clear. My echocardiograms, stress tests, MRIs, EKGs, and Holter monitors suggested a structurally normal heart. Thinking I was in the clear with the negative testing results, I tried to put my fainting spells out of my mind. But soon, I was starting to have symptoms while hiking, biking, and even walking. My heart felt like it was doing flips, and I’d be overcome with waves of nausea. Usually, I’d pause and the strange sensation would go away on its own in a few moments. Until one day it didn’t.
I was on my way to work on my bike, pedaling the short mile between my apartment and the High School where I work as a science teacher. I felt the all too familiar wave of nausea, the strange palpitations, and lightheadedness. But this time, I didn’t go back to normal. I arrived at work and tried to push through: making photocopies, talking to my colleagues, and beginning my first class as usual. About half an hour into my morning biology class, I knew something was deeply wrong. I called for emergency coverage and went straight to the ER.
The nurses who admitted me were immediately alarmed: My heart rate was at 280 bpm and had been for nearly two hours. I was stuck in a potentially life threatening heart rhythm called ventricular tachycardia. Ultimately I was electrically cardioverted and admitted for monitoring. Despite the serious condition when I presented to the ER, my tests were all still normal. At this point, doctors believed that I had an idiopathic, non life-threatening condition that could be cured with a surgery called an ablation. Happy to get this thing taken care of, I eagerly signed up for the ablation procedure and dreamed of being back to running and rock climbing in a few months.
We were told that the ablation procedure would take about two hours. My partner began to worry as the clock in the waiting room ticked on… 3 hours, 4 hours, 5 hours, and I was still in the operating room. When the procedure was finally done, my electrophysiologist explained that I was a more complicated case than originally thought. I had multiple origins for my ventricular arrhythmia; they popped up and disappeared, and then popped up again in a different location. It was like a game of whack-a-mole. My electrophysiologist was meticulous and dedicated and successfully ablated the most prominent arrhythmias, but cautioned me that the procedure may not be curative like we were hoping.
In the weeks following the ablation, I ended up hospitalized twice more for continuing episodes of sustained ventricular tachycardia. I had to take medical leave from my teaching job and was beginning to feel like I was living in the hospital. By my third hospitalization in two months, doctors were really scratching their heads. Luckily, an electrophysiologist consulting on my case pushed for genetic testing. Although time and time again I “passed” my cardiology tests with flying colors, it was looking like something strange was happening. Why was I continuing to pass out, my arrhythmias hammering in my chest, if my heart was structurally normal?
The answer lay in my DNA. Two weeks after I got my blood drawn for the genetic test, I received a call from the genetic counselor I was working with. She told me that I have a mutation in my PKP2 gene. This gene variant is highly associated with a condition called Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). My genetic results, along with my frequent episodes of sustained ventricular tachycardia led to a definitive ARVC diagnosis and an ICD implant.
The diagnosis was challenging. I went from thinking I had an idiopathic, curable condition, to understanding that not only was I at high risk for sudden cardiac arrest, but that I would have this progressive condition for the rest of my life. Being a science teacher by trade, I buried myself in the scientific research on ARVC. The research is clear that high intensity sports lead to increased progression of the disorder and heightened arrhythmias. At first, I felt hopeless. I am only thirty two and being active was a huge part of my life. Would I live out the next forty to fifty years from my couch?
Ultimately, I found solace in connecting with other ARVC patients. I hungrily signed up for every webinar through SADS, and joined every support group I could find. I slowly realized that living with ARVC is not all or nothing. I would indeed give up training for half marathons, but there were other activities I could still do, and others I could modify to protect my heart. I purchased an E-bike, which helped me get back to biking without increasing my heart rate dangerously. I still walked and hiked with friends, just slower, at a conversational pace. I signed up for yoga (an exercise generally regarded as safe for ARVC patients) for the first time.
I also leaned heavily into other hobbies that make my life richer, particularly art. I spent my time making pottery and taught myself how to crochet. I read voraciously and write creatively. I dabble in water colors. I not only still have a robust social life, but my relationships have grown even more meaningful in the time since diagnosis.
I am immensely thankful that my electrophysiology team pushed for genetic testing. Since the rest of my tests were unremarkable, I truly owe my life to modern genetics. Only with genetic testing were we able to catch this disease early and make adjustments to hopefully slow down the progression. Not every day is easy. I’ve had growing pains finding the correct dose of antiarrhythmic medication, and experienced a life saving shock from my ICD not even two weeks after my implantation. I still worry about what the future holds, but my immense gratitude for my life overshadows those fears. If I hadn’t been genetically screened, I could have easily had my life cut short by sudden cardiac arrest. I could have inadvertently hastened heart failure, had I not known to slow down my athletic pursuits due to my PKP2 variant.
Most ARVC patients will have to make some lifestyle changes when they are diagnosed. However, it doesn’t mean that our lives have to change for the worse. Although ARVC is a difficult diagnosis, it made me take stock: what is really important to me? What gives my life quality? The answers continue to pleasantly surprise me.