The following piece is my recent personal experience of what it means to deal with a rare condition. For those who suffer from rare diseases/disorders or those who are desperately seeking a diagnosis and appropriate care plan, I hope that it my version of "rare" provides you with some comfort knowing you are not alone!
Have you ever squeezed a balloon almost to its limit? Not the newly inflated kind, the ones that hang proudly from mailboxes or Instagram-worthy photo backdrops. No, those pop too easily. I’m talking about the forgotten balloons, the ones that manage to linger around a week after the party like an unwanted house guest. These balloons are fluid, flexible, and they can be grasped with extreme force but never actually burst.
My heart was that balloon, tight and painful to the point of near explosion, just to the edge of “pop!” I was 20-years-old and wrapping up my sophomore year in college. I slept too little, drank too much, and spent much of that season of my life overwhelmed with my course load and consumed by the toxic relationship in which I found myself. When the chest pain would not subside, my dad assisted in getting me a referral to see a cardiologist. During my visit to the local clinic, I underwent a series of noninvasive tests. My EKG, echocardiogram, and exercise stress test were all “unremarkable” or “normal,” and because of my state of affairs, I didn’t bat an eye when the cardiologist told me I was simply “too stressed.” I vowed to make a few changes, but truthfully, I did nothing differently to combat my stress. My symptoms began to ease on their own, and I put the visit out of my memory. It was a fluke. My heart was fine.
That was until my dad died unexpectedly of a heart attack sixteen months later. My heart, albeit physically in tact, was anything but fine— it was that popped balloon, burst into a million pieces and deflated of all joy. My grief and stress were so unbearable at times that I thought I would actually die of a broken heart. I needed a healthy way to relieve my emotions and take care of my own mental health, and, thankfully, running became the most effective form of therapy for me.
Being a runner was something at which I had previously scoffed, more so out of insecurity than anything else. I never felt athletic enough to be a runner and was always nervous to go for a jog in public for fear that my frequent stops would draw attention to my inabilities. Over time, however, my run/walks turned into short jogs, which turned into running short races, and 10 years later, after a lot of dedication and hard work, I proudly call myself a distance runner. I love the nervousness of toeing the line on race day. My favorite tune: my footsteps on the pavement, my favorite piece of art: my local trails on a cool fall morning. Running helped me come to terms with my father’s untimely death, and it later allowed me a forgiving space to release the pressure and anxiety I felt of being married to someone with an incurable rare disease. And running became the crutch on which I leaned when the blackouts began.
The first time it happened, it was 2018, and I was driving through a parking lot after a particularly stressful day at work, on my way to a going away party for a colleague. My heart skipped a beat, raced, heat from my chest rose to my face, then everything went black. I knew where I was, but I could not will myself to see. The episode was short, and I brushed it off, parked the car, and headed to the festivities. My time at the party was filled with similar episodes, and because I was so far from home, one of my best friends offered to drive me to her house so my husband pick me up from there. The following day, I had approximately 40-50 more of these short episodes at home. Once, I even found myself lying on the floor but couldn’t remember how I got there. That evening, after celebrating Friendsgiving with my husband’s coworkers, we decided to pick up my car in the parking lot of the restaurant where I had left it the previous evening. My husband said he would follow me home, but we only made it about 5 minutes down the road. I blacked out again - much longer this time- I couldn’t see anything and ended up driving on a sidewalk until I regained my vision (thankfully no one was hurt!). Two weeks later, I found myself in the ER because of severe chest pain, palpitations, and continued blackouts, but my EKG, full blood panel, and chest X-ray came back normal, and, as I been so many years before, I was told again that I was “too stressed.”
At the time, I was healing from back-to-back overuse injuries, just starting my return to running protocol, and my work-related stress was as common as breathing, so, once again, I listened to the physicians and agreed that the problem was likely my inability to cope. Driving became a trigger, and it wasn’t long before I would find myself behind the wheel one moment and in a full-blown panic attack on the side of the road the next. Over the next year, my blackouts waxed and waned like the moon, but my anxiety hung over me like a shadow.
Fast forward to October and November 2019, and after months of training and only a few blackout episodes that summer, I proudly crossed the finish lines of the Chicago and New York City marathons. Yet, by December, my blackouts were back with a vengeance, occurring almost daily. After much encouragement from some loved ones, I visited my PCP and asked for help dealing with my anxiety, which I truly believed was the cause of the blackouts. I began (and still continue to participate in) weekly therapy sessions, which helped tremendously, but it did not cure my episodes, so my PCP referred me to the local cardiology clinic, the same clinic I visited 12 years earlier.
Between January and April of 2020, I had many in-person and virtual visits, had an echocardiogram, was checked for Postural Orthostatic Tachycardia Syndrome (POTS) via a Tilt Table Test, and sat through more EKGs than I can count. When all of my results continued to come back as “normal,” the team at the clinic decided it was time to try a continuous heart rate monitor. In early May, I received my iRhythm ZioPatch and wore it for 13 days before mailing it back to the company and awaiting my results.
Throughout these five months, my pre-syncopal and syncopal episodes increased at a rapid rate. I continued to run to combat the new stress of the pandemic and working from home, and even I naively signed up for an ultra marathon. Yet, every run, whether slow or fast, long or short, trail or road, had an associated episode (most often, many episodes). Even at rest, just sitting on my couch or working at my desk, the blackouts continued; there was no reprieve. I ran because I was stressed out over my blackouts. I blacked out after I ran. It was a never ending cycle. Over Memorial Weekend, my husband and I went to the beach, and as I was in the early stages of my ultra marathon training, I did a few runs, all of which resulted in the usual chest tightness, palpitations, rising body heat, and pre-syncope. Then, two days after our return from vacation, everything changed.
On Friday, May 29, which happened to be the day after my 33rd birthday, my nurse practitioner at the cardiology clinic confirmed my worst fears: there was something seriously wrong with my heart. The phone call was a blur, and my brain couldn’t process much beyond, “stop running immediately…58 episodes…300 beats a minute… ablation.” An urgent appointment was made for the following Monday morning to discuss next steps. Two hours later, a different cardiologist from the clinic called me back and said that my results were “the most concerning he had ever seen.” He begged me to go to the emergency department to be monitored until Monday’s appointment. Terrified doesn’t describe how I felt; I was sure I was going to drop dead at any moment. My husband, who happens to be a cardiac ICU nurse, understood the severity of this news and immediately drove me to the emergency room. I was alone, thanks to the COVID-19 no-visitation policy at the hospital, and confused beyond measure. Since my results from the heart rate monitor had not yet been uploaded to my online chart, the physicians in the ED had to take my word for why I came in for a visit. They told me directly that they did not suspect I had an arrhythmia, but during my three hour visit, I had multiple episodes of VT. The cardiology fellow on call met with me, and after a phone call to the electrophysiologist I would meet on Monday, I was discharged with the understanding that I would do essentially nothing but sit at home all weekend.
I went in to my appointment Monday morning with a clouded mind and dozens of questions, but I was able to piece together a more complete story: in 13 days, my ZioPatch showed 58 episodes of Polymorphic Ventricular Tachycardia (PVT) and Ventricular Fibrillation. Some instances showed my heart rate hitting over 300 BPM and in complete chaos. Every arrhythmic episode was caused by a degenerative premature ventricular contraction (PVC), or extra beat. This is when it finally clicked for me -- my heart would skip a beat then start to beat rapidly/chaotically, which would then prevent the muscle from pumping blood effectively, which resulted in the blackouts. Even though I didn't understand why this was happening, I finally felt some relief knowing that the blackouts were not something I imagined in my head!
My care plan was set: MRI on Tuesday to check for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and complete the ablation procedure mapping, then cardiac ablation first thing Wednesday, June 3. I was fitted for an external defibrillator that afternoon and was required to wear it 24 hours a day with the exception of showering, which I was not allowed to do unless my husband was at home.
Tuesday came and went with an unremarkable MRI: normal ejection fraction, no scarring, no evidence of ARVC. Wednesday’s ablation took almost six-hours to complete, all for which I was awake. It was a miserable experience, and aside from vomiting on myself, they were unable to reproduce the necessary arrhythmia needed to find the specific place to ablate. Although some tissue was burned, the procedure was ultimately deemed “unsuccessful” after I stayed overnight in the cath lab and woke up to continuous PVCs. My EP was honest and proactive; he took my case to other cardiologists in the hospital and at other institutions, and all parties agreed that I needed an internal defibrillator placed. During the 8 days leading up to my ICD surgery, while I struggled to recover from my ablation, I was required to wear the external defibrillator at all times. I was not allowed to exercise in any capacity, nor was I allowed to drive...that part, of course, was fine by me.
About a week later, on June 12, I was readmitted to the cath lab for my ICD surgery. Within a few hours, I received two incisions and one Boston Scientific Emblem subcutaneous ICD, which was placed below my left arm pit, complete with a lead that runs around my left breast and through the middle of my chest. I have never experienced pain like what I experienced during the three weeks it took me to recover from my ICD surgery. Every moment was excruciating; I couldn’t sleep, couldn’t eat, couldn’t laugh, or couldn’t take deep breaths. At that time, I was also a couple of weeks in to a Beta Blocker regimen, which left me so fatigued that I had to take a midday nap almost daily.
Once mostly recovered from surgery, which truly felt like an eternity, I was still under a strict no-exercise protocol, save for the occasional walk, while I awaited genetic testing for any channelopathies (Long QT, short QT, Catecholaminergic polymorphic ventricular tachycardia, Brugada) or cardiomyophathies (ARVC, hypertrophic, etc.). By the end of July, I learned that my genetic testing showed no significant findings, and my diagnosis stood as Idiopathic Ventricular Fibrillation / Polymorphic Ventricular Tachycardia. The term "idiopathic" means "absence of identifiable etiology", so, essentially, it is a diagnosis by exclusion, and IVF is one that refers to patients experiencing shockable rhythms in the absence of structural heart damage and/or channelopathies. Needless to say, this diagnosis is disconcerting.
Yet, since my genetic tests were negative, my EP approved an exercise stress test, which I completed with flying colors on August 4, and I finally gained clearance to run again! At this point, I also stopped taking the Beta Blocker and began a twice daily anti-arrhythmic therapy. Things were finally looking up!
However, since August, I have struggled to get back in to running, first because of my being so out of shape and trying to return to the sport in the midst of a southern summer, but later because of the constant, severe chest pain I experienced almost every run, pain that is all too similar to what I experienced in college. By the end of October, my EP thought it might be a good idea to have another go at a ZioPatch, and although my results from the monitor still showed many episodes of VT, no cause of the chest pain could be determined. At that point, it was decided that I should have a CT coronary angiogram, x-ray imaging that is used to determine if there is any blood flow restriction in the vessels, to rule out Coronary Artery Disease (CAD). My results came back quickly and showed that there are no blockages or narrowing, and the chest pain has, therefore, been chalked up to being a side effect of my medication.
Truthfully, I have struggled to accept this information: the medication that is controlling my arrhythmia is also preventing me from fully experiencing the sport I love the most. I have goals that have been put on hold for so long, and I refuse to let my heart condition prevent me from achieving those. This is exactly why, per the suggestion of my EP, that I undergo another procedure: a sympathetic dennervation (also known as a sympathectomy), which will be performed by a cardiothoracic surgeon, at the beginning of February. In this procedure, the goal is to remove a portion of the ganglion from the sympathetic nerve chain that could be causing my arrhythmia, and, eventually to be able to stop taking my medication. The ICD will remain as a security measure, especially since no successful outcome can be guaranteed.
At this time last year, I had just completed two Abbott World Major Marathons with no cares in the world other than how to get the perfect Insta-worthy shot of my medals. Eight months ago, I struggled to finish 10 miles with one of my best friends and blacked out no fewer than 25 times immediately following. Yesterday, despite the chest tightness and occasional flutter, I finished 6 miles on one of my favorite trails, confident that my ICD will do its job should an issue arise.
When I look back on every episode I experienced since 2018, I remind myself that I am so lucky to be alive. For many patients with Idiopathic VF and other arrhythmias, sudden cardiac arrest/death is the first symptom. Furthermore, it is because of my amazing support system, who both uplifts me and keeps me grounded, and my knowledgeable and proactive care team that I am here today. My friends and family pushed hard for me to keep self-advocating and not rest until my blackouts were explained. I can't tell you the number of times my best friend, Jess, drove me home after a run to make sure I made it safely without blacking out or how my heart soared when my best friend, Tiffany, and her daughter, Bernadette, surprised me with a visit post-ablation. My mom, sister, and brother-in-law cleaned my house after my ICD surgery because I was in too much pain to move, and I received more prayers, texts, and gifts from other loved ones than I rightfully deserve. Most importantly, I feel respected and taken seriously by my care team, and I am confident I am in good hands going forward.
Running saved me, it attempted to kill me, and it is saving my life, yet again. The stress and anxiety is ever-present; I think that is a given, and I struggle to find connection with anyone else experiencing IVF, especially those like me -- young and in otherwise great health. Nevertheless, despite my diagnosis, despite my reliance on my ICD and, currently, my anti-arrhythmic medication, despite the chance that this upcoming procedure could be completely ineffective, despite the fact that I will never be able to wear a bra or sleep on my left side comfortably again, despite the fact that I still cannot drive myself confidently, and despite the fact that I often see a monster in the mirror where a non-scarred athlete once stared back at me, there is one thing I know for certain: I still have miles to go.