I was only 3 years old at the time, so I don’t remember, but my parents tell me that my pediatrician almost didn’t go through with the sweat test. “There’s no way she has cystic fibrosis,” he told them. Other than the fact that viruses knocked me out more than other kids my age, I showed no signs of health issues. But genetic testing (performed because my mother was 44 and pregnant with my younger sister) revealed that both of my parents were carriers for CF. Luckily, my parents insisted on doing my sweat test despite the doctor’s lack of concern. My salt levels were so high the results were undeniable. A few months later, my sister was born — a carrier, just like my parents.
For the first few years after my diagnosis, we proceeded as if I had typical CF — my parents performed chest PT on me every night while I watched TV, I had regular CF clinic appointments, and I avoided hot tubs and sick people. But pretty soon, it became clear that I was far from a typical CF patient (if there is such a thing). My FEV1 was always around 110%, I never coughed, and I grew at a healthy pace. By the time I entered middle school, I’d only ever had one lung infection and had never been hospitalized. At that point I’d graduated from chest PT to the vest, but because I played on my school’s soccer, basketball, and tennis teams, my care team eventually agreed that I could stop respiratory therapy altogether and see what happened. My lung function has remained steady ever since.
Although my experiences of CF have been relatively mild, the disease hasn’t exactly let me off the hook. The summer before ninth grade, I developed a recurring sinus infection which eventually resulted in my first sinus surgery. I’ve had nine other surgeries in the 12 years since.
Around that same time, I also developed postural orthostatic tachycardia syndrome (POTS) and spent two years battling debilitating dysautonomia symptoms. A few years later, resistant strains of E. coli and Pseudomonas colonized my sinuses, leading to IV antibiotics and hospital stays. A few years after that, I discovered I had mild pancreatic insufficiency.
In spite of all this, in 2021, my doctors finally told me that it’s likely CF won’t threaten my life. That news was an enormous relief for myself and my family, but it also comes with its own set of complications.
As someone with an atypical cystic fibrosis experience, I straddle two worlds — I’m legally disabled because of CF, but I also live much of my life just like any other healthy 20-something might. I’ve hiked 500 miles of the Camino de Santiago pilgrimage through France and Spain, but I’ve also spent a week in a hospital bed on IV antibiotics that made me vomit. I’ve become a certified scuba diver (with the approval of my pulmonologist), but I’ve also dealt with excruciating sinus pain and bouts of fatigue.
I often feel like I have a partial membership to both the CF and healthy communities and don’t fit into either. Honestly, it’s hard for me to read the CF Community Blog or join the CF Facebook groups and see discussions about coughing or lung transplants or end-of-life care.
I think to myself: How can I claim cystic fibrosis if I can’t relate to so much that most CFers go through? I feel guilty identifying with this disease that has treated me so much better than thousands of others born with the same genetic defect. But the reality is that, like it or not, I do have CF, and it absolutely affects my life.
I have the layer of salt on my skin and mucus the thickness of — as one surgeon told me — “peanut butter,” to prove it.
A major downside of my version of CF is the way it impacts my care. During hospitalizations, I’ve had nurses refuse to believe my lungs are healthy — insisting on listening to my chest every day and trying to force respiratory therapy on me — or those who tell me “Wow, you’re so lucky!” as they hear my CF story while hanging my IVs. (True, but maybe not what I want to hear when I’m spending my week in a hospital bed rather than at home with my husband and my friends …)
My current pulmonologist, who has been great, suggested I get a vest at every appointment for nearly two years before she got to know me. And the one time I expressed my concern to the respiratory therapist when my FEV1 was 106% instead of my usual 110%, they responded: “Are you complaining about lung function over 100%?” Luckily, I’ve learned over the years how to advocate for myself in the doctor’s office, but I still feel like it’s a constant battle to stand up for my needs because they just don’t fit the mold.
It’s also true that I live in a no-man’s-land of treatment options. While I did qualify for Symdeko®, I got no benefit from it other than less salty sweat. On Trikafta® (which my insurance approved despite the fact I didn’t qualify), the results were equally disappointing. I’m thrilled to see how these treatments and others have transformed the lives of other CF patients, but I’m also left wondering how much hope to hold onto for my own future with the disease. Will I ever know life without sinus surgeries, Creon®, and viruses that carry on for weeks?
For most of my adult life so far, I’ve stayed away from the CF community, feeling like too much of an outsider. But recently, as the disease has begun to affect my life more, I’ve felt a gravitational pull to talk to people who understand the frustration I feel towards my body and the determination to squeeze the most out of life during healthy periods. As someone with an atypical cystic fibrosis experience, I feel out of place when I speak to other CFers, but I also cherish the connection.
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