Life, interrupted.
Where to begin.
It’s funny. Staring at a blank page is intimidating. When I’m moving, whether that’s walking, running, or hiking, the words flow easily like a river, merrily tumbling forward and uninterrupted by anything that blocks their path. But when I’m still my mind freezes. The moment I see a blank page my mind mimics the emptiness in front of me; instead obtrusive thoughts emerge from deep below and the urge to be perfect arises: I feel like my writing needs to be perfect, that I need to be perfect; how do I start perfectly?
I don’t know where to begin. And I’m sure it’ll all be messy but it’ll also be messy and raw and real. It’s a bit of a coping process for me, capturing the messiness and complexity of being human.
So let’s begin. Let me start at the beginning.
~ ~ ~
I was lounging in Fort Greene Park, sitting cross-legged with my head facing up, catching the warm rays of the sun on my face. It was a beautiful June summer day: the grass was lush and green, the type of green you see in perfectly manicured lawns; the sky was a perfect vivid blue and scattered with fluffy white clouds, the kind of sky you see illustrated in children’s books. My friend and I were exchanging a year’s worth of stories and musings, catching up before I headed back out of the country again in a couple of days. We sat on our jackets to protect our butts from grass stains, nibbling on baked goods from a newly opened Asian bakery. It was a beautiful summer day.
My friend was talking to me and close to ending a sentence when I absentmindedly reached for my phone and took a passing glance at the screen. Missed call.
Oh shit.
“Hey, I need to give this person a call back. Can you stay with me while I take this call?”
“Sure!”
I returned that missed call. I exchanged a brief set of pleasantries then held my breath. And then the words I dreaded to hear came: “You tested positive. I’m so sorry”.
I burst into tears, huge, shuddering sobs that wrenched my body. A part of my mind separated from itself, floating away to watch the scene with clinical detachment. There’s no way this can be real. There’s no way this can be real.
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Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia (ARVD) or arrhythmogenic cardiomyopathy (ACM). And I thought consulting had too many acronyms.
. Break down the word and you get somewhat of a meaning:
Arrhythmogenic: referring to arrhythmias, an abnormality in the timing or pattern of a heartbeat. Arrhythmias can present itself as a racing heartbeat, skipping heartbeat, or palpitations and range from harmless to life-threatening. Cardiac arrhythmia occurs when electrical impulses in the heart don't work properly.
Right ventricular: referring to the right ventricle, the lower right chamber of the heart (a heart has four chambers). Its responsibility is to pump oxygen-depleted blood from the heart to the lungs. Blood is low in oxygen after circulating through the body; it flows back to the heart through the right atrium (upper right chamber) and then is released to the right ventricle. The right ventricle then pumps the oxygen-depleted blood to the lungs where it gets fresh oxygen.
cardiomyopathy: a disorder that affects the heart muscle. Cardiomyopathy causes the heart to lose its ability to pump blood well. This leads to arrhythmias
ARVC is a rare genetic disease of the heart muscle. The disease causes fatty and/or fibrous tissue to replace damaged heart muscle in the right ventricle. The right ventricle changes shape and contracts poorly, causing the heart to have a weakened ability to pump blood. The fatty and fibrous tissue can get in the way of heartbeat signals, interrupting the normal electrical signals within the heart, causing the heart to become weaker over time.
The disease is caused by mutations in the genes which help heart muscle cells connect and communicate to each other. The mutation disrupts this process, causing the heart muscle cells to separate and die, replacing heart muscle with fatty or fibrous tissue. This happens more during times of stress or exertion and explains why ARVC is more common in athletes and the delayed onset of the disease; exercise is associated with the disease and accelerates progression. There is currently no cure.
Researchers know of at least 13 genes that can have mutations that cause this disease. One of them is PKP2. The PKP2 gene provides instructions for making a protein called plakophilin 2, which is primarily found in cells of the muscular wall of the heart. PKP2 is one of several proteins that helps cells in the heart attach to one another and strengthen the wall of the heart.
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That phone call informed me that I’d tested positive for the PKP2 genetic mutation. I knew to test for PKP2 because a family member was suddenly and unexpectedly diagnosed with ARVC late last year.
I was shocked to receive this news. I had an electrocardiogram (ECG or EKG) and transthoracic echocardiogram (TTE) performed in November of last year, done as a precaution after finding out about my family member’s diagnosis. The EKG records electrical signals in the heart to show how the heart is beating and the TTE uses ultrasound to create images of the heart — both came back as normal.
I had also just spent the past year hiking around the world: I’d spent 21 days trekking in the Himalayas at altitudes over 5,000m (16,404 ft) while carrying my own gear; I’d hiked Kilimanjaro, the tallest mountain in Africa (though to be fair it’s also the easiest Seven Summits to hile); I’d spent three months in New Zealand scrambling up and running down mountains.
I’m someone who’s been physically active her whole life. I’m someone who thrives on moving my body. I’m a hiker. I’m a runner, and a kind of above average one at that. I am an athlete. I was seemingly healthy. I had just completed feats that one would’ve thought precluded me from having the genetic mutation, especially because this disease is one where you’re supposed to pass out or feel lightheaded during extended or intense physical exertion. I was training for the New York City Marathon and was clocking in good training runs, on track to hit my goal time.
Just because I had tested positive for the genetic mutation didn’t mean that I had the disease, it just meant I was predisposed for the disease. People with the genetic mutation who didn’t have the disease could still exercise; they just had to be regularly monitored. I clung onto that hope. Just because I have the mutation doesn’t mean I have the disease. Just because I have the mutation doesn’t mean I have the disease.
~ ~ ~
Exactly three weeks later I found myself sitting across from a cardiologist, waiting to hear the results of my cardiac MRI. The cardiac MRI was performed a couple of days earlier; it was a surprisingly peaceful experience. I’d laid inside the machine eyes closed, patiently listening to instructions telling me to hold and release my breath and release so the machine could take detailed images of my heart.
The cardiologist sat down and invited me to sit across from him in a proper chair rather than perch awkwardly on the edge of the exam table.
He started off slowly, patiently, innocuously. He asked how much I knew about ARVC and if I knew about what happened to my family member with the disease, getting a gauge for my familiarity of the disease. He gave more background, helping build my understanding of the disease, the genetic mutation, and how the two were intertwined. He might have said more — I don’t remember. I just remember being tense and feeling our conversation build up and lead to the topic that would be a turning point.
He asked if I had seen the results of my MRI yet. I said no; I had seen an email stating that my results were available in the patient portal but had restrained myself from viewing them, knowing it was no good to view or interpret medical results without a physician present.
“Good,” he said, “because the results will likely change.”
Huh?
“What does that mean?”
Hope fluttered in my chest. Could this mean that the radiologist had messed up and that my results were actually normal? The cardiologist had such a calm and reassuring demeanor — surely that meant everything would be okay.
“Your MRI is showing signs of abnormality.” The radiologist who interpreted the images had signed them off as looking normal, likely because he did not specialize in cardiology and didn’t know what to look for. However given his familiarity with my family history and ARVC, my cardiologist didn’t trust the initial finding and took a look at the images. He noticed something and sent it over to his team of cardiac radiologists, asking them to take a second look given their speciality. He was waiting to get an official response, but their initial reaction confirmed that there was something wrong with my heart. I have the disease.
Fuck.
~ ~ ~
Ignorance truly is bliss. I think about all the things I was able to do this past year. I’m so fucking glad I had the courage to quite my job and go travel the world before finding out about the disease and the new limitations it imposes on me. I’m so grateful that I had this past year to go on these grand hiking adventures. To go on risky hikes around the world to explore at my own pace, at my own will. To do all of the things without any fear and without any awareness that these activities were actually causing deterioration of my heart.
Because now I’m in a reality where I have limitations that feel so extreme compared to what I’m used to. The only thing proven to reduce the disease’s rate of progression is by avoiding high intensity physical activity, which can cause an increased risk of sudden death and deleterious effect on the myocardium (wall of the heart muscle). You know what classifies as “high intensity” in this situation? Running. Jogging even. Weight lifting. Cycling. It’s still in the early stages so I’m waiting for more guidance, but what I know so far is not great.
If I want to live a long healthy life, then I can no longer run. I can no longer work out. I can no longer get my heart rate above 100 beats per minute. Do you know what 100bpm gets you? Not much. To no longer be able to do the things I love, activities that provide me joy, freedom, and relief. Running and exercising have been my go-to for stress release, a way to achieve mental clarity and a coping mechanism for my brain is on overdrive. Being active is an enormous part of my life and a huge part of who I am.
I know I should focus on being grateful that I am at least still physically capable of moving my body and can still move — and I am grateful for that. I can go on walks (but not too fast). I can do yoga (but not hot yoga). I can move my body (as long as it’s under a heart rate of 100). But I’m not ready for that yet. Or at least I’m struggling to hold both a grateful attitude with the heartbreak of this big life change. The gratitude of catching it early with the uncertainty of what this means for the future. The gratitude of knowing I’m not facing imminent death with the grief of losing my dreams. The gratitude of being alive with the devastation of this enormous loss of identity.
This is FUCKED. UP.
It’s fucked up that I feel “healthy” but there’s something wrong with my heart. It’s fucked up that I’m an athlete but can no longer exercise. It’s fucked up that I look normal but my inside is not — this one especially messes with my head.
I know it’s not as bad as other people with this disease and that it could be worse, but it still fucking sucks. And as a favorite writer once put it, “It’s not the Compar-olympics”.¹
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And so, here I am today: sitting in front of my computer typing out my anguish, frustration, and sorrow onto a screen.
I hate how so many of the narratives I read and hear about people with illness or big life changes tend to follow the hero’s journey; they are stories that are written after the person is cured or gets their happy ending. But life is messy. And it’s hard to read those stories when I’m in the middle, hell the beginning, of the journey. Maybe I’ll get there — well they (doctors, therapists, friends, family) all say I will get there, there as the point where I’m at peace and adapted to a new reality. But right now I’m not there; I’m in the trenches trying to come to terms with this new piece of information.
Today is Day 2 of finding out that I have ARVC. I’m writing to process but also to document. I know intellectually that it will be possible to embrace this change and that it could actually provide clarity and meaning and creativity. That the “right” way to process is to reframe what this means. But right now I’m not quite ready for that. Right now the only thing that’s getting me through is being present. And right now being present means facing this news with all the emotions that come with it — shock, anger, and overwhelming grief.
Sources: Johns Hopkins Medicine; Cleveland Clinic; Medline Plus
¹ Suleika Jaouad says this during her interview on Maya Shankar’s A Slight Change of Plans podcast where she share her story about being diagnosed with a rare form of leukemia. Suleika wrote a weekly column in The New York Times chronicling her experiences as a young adult with cancer which resonated with people around the world who were dealing with life’s interruptions.