Rare Disorders - Part 2: The Lived Experience Sheds Light on Building a Constituency
When I learned I had a rare disease I had never heard of and didn’t know how to pronounce, I was thrilled.
Two long weeks before, doctors had told me that I might have lymphoma, a disease I had definitely heard of and knew how to pronounce. But the biopsy of the lymph nodes in my lungs showed not cancer, but sarcoidosis.
Rebecca Stanfel
I had spent those two long weeks before the biopsy holding on tight to my three-month old son, Andrew, and worrying I’d get sick and die of cancer before he would even be able to remember me. I was 32 years old.
Cancer was something I knew to fear. I’d seen enough films and TV shows about brave women with bald heads struggling through chemotherapy. I wanted the life I assumed I had waiting for me to get back on track. I had no time or room for illness.
My Montana doctor told my husband, Jay, and me that most cases of this sark-oi-doh-sis went away without even requiring medication. “Sarca-something” is how I explained this great news to my family and friends.
That was twenty years ago. We all learned how to pronounce sarcoidosis pretty quickly, even Andrew when he was three or four. It turned out that I would still need to worry about dying before my boy knew me, that I would have to be a brave woman struggling through chemotherapy, and that a serious illness is nothing like I saw in the movies.
I also had to let go of all the assumptions and expectations I carried for my life. I lost everything that was familiar—working, driving, cooking a meal, reading a book—and everything I had imagined for myself as a new mother. With all this losing, though, I ultimately discovered new values, a new community, and new ways of seeing the world and my role in it.
It has not been easy. I was not one of those lucky people whose sarcoidosis spontaneously remits. Instead, my disease compromised my heart, my brain, my lungs, my liver, my skin, and my bones. Sometimes it took my spirit too.
My sarcoidosis has felt like playing some terrible, high stakes version of “whack a mole.” After my initial relief at this diagnosis, I developed cardiac sarcoidosis within a year. One doctor with a cruel bedside manner told me that I might “die at any moment.” Andrew was two years old. When sarcoidosis moved into my brain’s cranial nerves, I had years of episodic blindness, vertigo so bad that I fell getting out of bed (just going to the bathroom, I broke my wrist), and head pain so intense I needed to be hospitalized for months at a time. I lost the ability to read or write for more than a few minutes. In my bones, the sarcoidosis caused spontaneous fractures when I walked. When Andrew was seven, another doctor told me I wouldn’t live to see him graduate from high school.
How do you whack a mole as pernicious as sarcoidosis? There is no cure, only an array of immunosuppressants. Since sarcoidosis is an inflammatory disease in which my body’s own immune system has gone into over-drive (at least that’s how I understand it), suppressing my immune response can help. I was on massive doses of prednisone for years. After that, I tried a series of drugs, including high dose chemotherapy for a year (after lower doses of chemotherapy infusions every other week for years before that). This is when I lost my hair. These medications inhibited my B cells, my tumor necrosis factor, and my innate immune response. And each one had significant side effects. Years of the prednisone contributed to me gaining 100 pounds. The various chemotherapies left me throwing up and feeling beaten. I am always exhausted with a tiredness no amount of sleep can sate.
As a former national-class athlete and as a new Mom who was so excited to hike with Jay and introduce Andrew to the wilderness we loved, I instead became obese, bed-bound, and crippled by vertigo, blindness and pain. I had made my living as a writer. Now fifteen minutes in front of a screen made me dizzy and throw up.
I was not the mother I thought I would be. For many days, even making it to the dinner that Jay cooked was too much for me. I missed Andrew’s first day of preschool and kindergarten. I was once an Olympic level cyclist, but I missed teaching my son how to ride a bike. I had to turn over most of his childcare to someone else. I listened to him chatter to someone else in the room below the bed where I spent most of my time. I wasn’t the partner to Jay I wanted to be either.
Who was this person I did not recognize in the mirror? Who was this woman living a life she didn’t understand? For the first few years, I felt like I was drowning in grief. I mourned all the dreams I had lost, the relationships that had changed, my self-sufficiency, and my own body. I judged myself for everything that was “wrong” with me.
As hard as it was to have an infant—and then a toddler, a young child, a middle-schooler, and then high schooler—with a severe and chronic disease, Andrew gave me a reason to push myself beyond any boundaries I had ever felt in any race back in my cycling glory days. I would not, I could not, let those two doctors’ prophecies come true.
I began an inward journey of recalibrating my life. I had lost so much, I clung to what I could. I thought I would never ride a bike, hike up a mountain, or swoosh down a ski hill again. But I still loved the feel of earth under my feet and Montana’s sky swooping above me. So, when I could, I walked with Jay and Andrew. Sometimes it was for two minutes. But I walked. I could no longer write parts of books or long magazine pieces, but I still made sense of my existence through words. So, I started a blog about living with a chronic illness and a young child and would write a little when I could. I couldn’t often meet my friends out in the world. So, I learned to appreciate a cup of tea with a friend in my living room. I was no longer Jay’s companion in all things outdoors. So, I focused on the gift of his steadfast care of me, for all the good fortune we did have.
But this makes it sound too easy. As if all of us with a serious and rare illness just need to keep a gratitude journal, and we’re set. This is not what I mean. This journey of recalibrating my life is ongoing. I feel like I learn the same lessons over and over—and then over again. I lived with grief, rage, and frustration every day. And still do. But I wanted to show up for my son, my husband, and myself. We celebrated Andrew’s 13th birthday as a family. And this meant watching him blow out his birthday cake candles while I was stuck in a hospital room, tethered to IVs and pumps. I tried not to see the hurt in his eyes, the lines of strain around Jay’s eyes. I tried not to feel the ache buried in me.
In the hard work of recalibrating, though, moments of utter clarity would startle me. Snuggling next to Andrew and reading him a bedtime story, I would sometimes be seized with gratitude, inhaling the smell of his shampoo and feeling the warmth of his little hand on my side. True, I wasn’t teaching him how to ride a bike or ski, but I was still sharing with him the power of words and the books I loved. Or sitting on our deck with Jay, we sometimes reached a place beyond words, where there was only the grass blowing in the same wind that moved the clouds above us. I was alive. And there was goodness in my life.
In the midst of these new discoveries, I saw a lot of doctors. Before sarcoidosis, I didn’t fathom that one person could ever see so many doctors—a sarcoidosis specialist, who referred me to a cardiologist, who referred me to an electrophysiologist. Every doctor wanted multiple tests. Sometimes the doctors made contradictory recommendations or called into question what a specialist in the same care team had told me.
Montana doesn’t have sarcoidosis specialists, or neurologists who are experts in how the disease impacts the brain. This meant that Jay and I traveled for these appointments and the testing (and then re-testing) I always needed. Too often I felt like a widget being moved along a contraption that rattled me around in circles. Our lives were consumed with these appointments. Managing all this would have made me dizzy if I didn’t already have constant vertigo.
I learned through trial and error what I needed from my medical care team. Jay and I slowly realized that we had to advocate for my best interests. While we wanted medical expertise, I had to feel like I was being heard, that these specialists understood that I was also an expert in what the disease was doing within my own body. I developed a set of tools and strategies for each appointment. Hardest of all was learning that I could change doctors. No matter how brilliant someone was, or how much another person liked them, what mattered most was that I could work with them, that we could work as a team.
I also had to let go of some hope, as odd as that may seem. There is no quick fix or cure for sarcoidosis. No magic pill or infusion would chase the mole we kept whacking out of my body. Even the best doctors could only offer me medications to stem the disease’s progression or to manage symptoms. Every treatment came with significant side effects.
All of this was a lonely process. I didn’t know anyone else with sarcoidosis, didn’t know any system but figuring it out on my own to find the right care team or advocate for myself. Since I spent years at my local cancer treatment center getting various infusions (some of them chemo), I saw the difference between my experience and that of the cancer patients who became my friends. There was a supportive community for cancer patients and their families, and the broader world engaged with their illness, whether it was through Livestrong bracelets, fundraising walks for breast cancer, or free wigs at the local salon.
My reality with sarcoidosis was very different. I’m not in any way trying to say that cancer is easier. Just that it is better known. When people learned I had sarcoidosis, more often than not they would say, “Well, you don’t look sick.” And those who knew about my disease would too often ask, “You’re still sick?” Only my family and closest friends understood what I had and how serious it was. For everyone else, I lived in a world of “sarca-something.” I grew tired of explaining everything over and over—to doctors, to my acquaintances, even to those close to me.
By the time I learned about the Foundation for Sarcoidosis Research (FSR), I had already figured out the basics—who oversaw my care, how to engage with him. But, like many with a rare disease, I’d never talked with anyone else with sarcoidosis. I had given up on there ever being a cure or even a new treatment with less side effects. I was pretty sure that I was building the proverbial airplane while I flew it. And I was flying it while I was sick and exhausted to horizons unknown.
FSR brought me into a community dedicated to making lives better for all with sarcoidosis. They gave funds to those researching new treatments. They lobbied local and federal government. At a conference for patient advocates, I met thirty other people with sarcoidosis. None of our stories or journeys were the same. But we listened to one another, understood one another, and supported one another in ways that no one else could. Even Jay, who was by my bed for nearly every day of my long hospitalizations or at my side taking notes for me at every doctor’s appointment, could not understand as my FSR world did what it meant to live with this disease.
Over the past few years, FSR encouraged me to pass along the skills I’d learned to those who were newly diagnosed. I shared my strategies for being my own advocate. I could reassure those who were newly diagnosed and feeling like a widget that they could look elsewhere for care. In helping someone else in some small way avoid some of the mistakes I had made, I felt like I was making a difference. Most importantly, I learned the power of telling my own story about living with sarcoidosis, whether it’s to other patients, doctors, community groups, or this Turnkey blog. And I appreciate listening to the stories of others. It is only through connections that we can build a better future for ourselves, that we can literally make ourselves heard.
I wish I could end this version of my story with a sweeping Disney-esque happy ending. But this is real life. In 2018, my neurosarcoidosis retreated, and the vertigo, blindness, and pain it brought with it abated. I cautiously took on more of the joys of my “old” life. I rode a bicycle again, built up my stamina to go hiking with Jay. I even learned how to skate on Montana’s frozen lakes. I lost most of those 100 pounds I gained. I went back to work. I deepened my relationships with Andrew and Jay. I stopped feeling like a professional patient. Even then, every day was a balancing act. Did I want to work or exercise? Cook dinner or see a friend? Overdoing it one day meant spending three days in bed. I operated at about 1/3 of my pre-sarcoidosis capacity and dealt with new cardiac and pulmonary issues and my ever-present fatigue. Nevertheless, every day felt charmed.
Unfortunately, a Covid infection last April set the disease off and running again. My neurosarcoidosis has returned, with new symptoms. It feels like I’m back to playing “whack a mole” and needing to explore new/old treatments—ones I’ve tried before but that might help me now.
I’m not hiking these days, and I’ve gained back some weight. Working feels like it’s taking up every ounce of my energy. I get frustrated. Angry. Anxious. Hopeless. And then I remember that like every other human, I am a work in progress. I lean on community, whether it’s my family, the folks at FSR, or my friends. I remind myself to exhale, to accept the love, beauty, and joy that is always in my life. I just have to remember to let it in. I am occasionally successful. Like I said, I am a work in progress.
To learn more about the Foundation for Sarcoidosis Research (FSR) and sarcoidosis visit www.stopsarcoidosis.org