A few months ago, PicnicHealth asked me to write about my experience with my rare disease, paroxysmal nocturnal hemoglobinuria (PNH). At that point, back in November, I had just received a diagnosis after ten years of questioning my reality, and a new way of thinking had just begun to set in. A diagnosis can be such a vindictive thing, especially after such a long time, and it took me these past months to really come to terms with my new situation.
It feels like the entire world has been opened up before me, a future with managed symptoms has appeared out of the fog of an undiagnosed life, and I’m honestly still kind of in shock. Over the course of the ten years without a proper diagnosis, PNH had taken over my entire life. I had grown to expect limitless fatigue, blood transfusions, pain, and infection as my normal, all without a real explanation. I had even moved back home, unable to receive proper accommodations from my day job (partly due to the lack of official diagnosis), and barely able to take care of myself. Something was seriously wrong with me, and I felt the dream of a “stable” life being torn away by something that I couldn’t even explain or understand. I felt so isolated in my symptoms because without the scientific or social knowledge to back up my experiences, I felt increased pressure to just go along with the narrative that it was all in my head, that I was just being dramatic.
Over the course of the ten years without a proper diagnosis, PNH had taken over my entire life
This is a situation that so many of those who have suffered from undiagnosed rare diseases know far too well. But now, I am no longer alone. I have a team of doctors working with my body, not against it. I have nurses and resources and my friends at PicnicHealth, all of whom are working with me in this new life that I am living, and that feeling alone is worth all of the past ten year’s journey. I am able to listen to my body and then turn to actual clinical research to compare my experiences to others, and it is an incredibly validating path to finally be walking.
PicnicHealth’s mission is to help patients take control of their health, both with document accessibility and with their ground-breaking contributions to Rare Disease research. Fellow Rare Disease sufferers will understand the importance of continued research so that more and more of us can experience the unparalleled joy of a diagnosis. As we strive to understand our bodies and better communicate their symptoms to those around us, the work that PicnicHealth does is an amazing asset. Patients can finally compile the years of lab work, doctor visits, and clinical experiences that pile up when hunting for a diagnosis, and they can therefore be prepared to take control of the narrative and push for real answers. I hope for a world where all bodies and their symptoms are validated and cherished, and Picnic Health is helping us move towards this goal!
I hope as you read about my journey towards diagnosis, as well as my continued struggles post-diagnosis, you gain an appreciation for the ways in which patient-advocacy can change lives. The more we listen to our bodies, as well as encourage others to do the same, the closer we come to “A New Normal”.
Patients can finally compile the years of lab work, doctor visits, and clinical experiences that pile up when hunting for a diagnosis, and they can therefore be prepared to take control of the narrative and push for real answers.
A New Normal
Following a positive identification through my bone marrow biopsy, I was diagnosed with an extremely rare disease called hemophagocytic lymphohistiocytosis (HLH) on the day of my 17th birthday. Triggered by a normal teenage case of mono, my body went into hyperdrive and began producing aggressive cells that began to attack my lymphatic system. If the over-enthusiastic HLH cells were left up to their own devices, they would have continued their ceaseless attack on my organs and my spleen could have literally exploded, along with a variety of other unpleasant outcomes. I remember my mom and I joking that I looked like a bullfrog with the enlarged lymph nodes in my neck that were pressing up against my throat, while my belly stuck out at odd places, tender to the touch, incredibly swollen.
As I lay, barely conscious, the doctor explained to my parents and I that because my immune system was so riled up, I was to be given a daily dose of extra strong steroids to beat it down as much as possible while, on the flip side, I was to be administered weekly chemotherapy to kill off the remaining enemy HLH cells. There were lots of words I didn’t understand through the haze of fever, but when the doctor said “Chemotherapy”, I stiffened. I vaguely remember my mom crying next to me, my friends peering at me from the doorway of my room, and being carted, barely cognizant, from my bed to the infusion clinic to labs to back to bed.
Before this, chemotherapy had always been a plot device rather than a drug to me. I had usually seen it tossed around as a character-building hardship or a dramatic twist in medical dramas. I pictured bald, frail, old ladies in nursing homes hooked up to IVs, sickly kids in medical wards, martyred teenage girls hooked up to machines. How could this be happening to me? This question reverberated in my head as I was pumped with my first of many etoposide doses, and it continued to haunt me for quite a long time.
How could this be happening to me?
When I was an able-bodied teenager, illness was always temporary. To be honest, I would sometimes even play up the occasional sniffle in hopes of missing a day or two of school. A cold meant the chance to snuggle up in my nice cozy bed with some homemade soup and some reality TV. It meant the chance to revel in a rare break from chores, tests, soccer practice, and homework. A chance to be babied and swaddled again. Sure, getting sick was never “fun,” but it was a useful pause within the action of my life. Inevitably, I would always look forward to returning to the world of the living within a few days or so, refreshed and healthy. Maybe with an angry teacher and a pile of homework waiting in the coming school week, but worth it every once in a while.
There was always this vision of an inevitable path forward. I had no reason to think otherwise: a cold or the flu would always plateau and then my strength would inevitably fight back. Whenever things did seem to take too long, when the gloating over missing school turned to moaning and groaning, my parents would admonish me: “Stop whining! You’ll be better soon!” and it eventually would always ring true. People that live relatively able bodied lives continue to understand health in this way: as always returning to an inevitable equilibrium of wellness. With enough rest, or a run, or some Tylenol, or some water, a turmeric supplement, whatever, many people will bounce back, better than ever.
For those people, and the system that they have built, health is the norm that our schedules revolve around. Illness is an annoying pause in productivity that must occasionally be dealt with; there is always a healthy future to recover towards. Because health is the productive norm, disabilities and illnesses are oddities to be pushed out of sight, instead of accommodated. Within a world where a traditional model of health is assumed, disabled stories are used as tall tales to encourage “healthy lifestyles:” bodies are reliable machines that need to be tuned up every now and then and those that are sick are simply too lazy to bounce back (and thus deserve the extreme higher rates of poverty, comorbidities, and death that we categorically face). We see the narrative of linear recovery everywhere: from sitcom plots to healthcare to how we request leave at our jobs- the expectation is always that if you push through, ignore your body and just “get over it” things will get better.
Within a world where a traditional model of health is assumed, disabled stories are used as tall tales to encourage ‘healthy lifestyles’...I believe that not all descriptions of health should be the same.
So, with that narrative firmly ingrained in my mind, I had no frame of reference for the lifelong journey that I was stumbling into. I played soccer five nights a week, ran a seven minute mile, and rarely got sick besides the occasional flu. I couldn’t imagine a world where sucking it up and going on a run wasn’t the solution to illness. That is, until I began to get winded easily the summer before my senior year of high school, and my young healthy body began to experience strange new symptoms. I collapsed onto the pavement while my friends were shooting off fireworks on the Fourth of July. At the beach, the summer sun burned my eyes. I slept and slept and never felt rested. My dad encouraged me to drink more water. My mom pushed me to exercise, telling me that I just had a case of the teenage lazies. The reliable machine that was my body began to malfunction, and all of our troubleshooting was leading nowhere. I ignored it for a couple of weeks, waiting and waiting for things to get better as always.
Near my birthday, when I fainted in the shower, I thought of it more as a funny story than as a portend to an entirely new life. Finally, with this last occurrence, my nurse mom kidnapped me and drove me to the hospital, unable to write off any more symptoms (thanks, Mom!). I was admitted almost immediately for extremely low levels of hemoglobin, extremely high levels of inflammation, and a disastrous and continuous 103 fever. Even so, during all of this, I remember joking around with my friends about missing homecoming, about having to reschedule my birthday party, about getting “out of shape.” I remember worrying about how my port scar would look in senior pictures. Looking back, these things seem so inconsequential in light of the seismic shift that was occurring, but they were the tethers to normal that I clung to. I expected everything to simply resume, as I had always been told it would. I was suddenly Frodo, leaving my little hobbit home, second breakfast in hand, with no concept of the trials to come.
As I sat in the oncology unit of the hospital, waiting for the results of a rushed bone marrow biopsy, my family sitting grimly around me, I feebly began to acknowledge that my one-off episode was turning into a season-long arc. The doctors reassured me that with chemotherapy and steroids, my fatigue would come to an end and I would triumphantly return to my friends at school, good as new. As much as I can look back and appreciate my doctors for their optimism, I wish that I could have had a wise old Gandalf-type wizard to snap me out of sitcom fantasies and tell me to brace myself for an entirely new life: dragons, orcs, and all. It would take months, even years, but eventually I would begin to understand that my adventure has forever altered the path of my life.
I am writing this article on Rare Disease Day because I believe that not all descriptions of health should be the same: I will struggle and claw to live for the rest of my life, and so will so many amazing and talented disabled people, and we deserve to have representation and accommodation for lives outside of the traditional narrative. On Rare Disease day, I hope we all can look at health not as an inevitability but as a beautiful (and sometimes grueling) individual journey that we each must embrace and support each other in, especially those whose journeys are more challenging than our own. If we expand our definition of personal health to include those with disabilities, when we inevitably face our own dragons we will each have the social networks of support and understanding that we will need.
Read on for Part 2 of Maegan’s PNH Journey “The Fight Continues” as she lifts up her story and supports others on Rare Disease Day 2022.
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