I have cystic fibrosis.
Writing that out still feels strange to me, in part because I have only been able to do it for about a week now. I practiced for years in my head, of course, rolled those words around like worry stones. You don’t get a diagnosis like CF after almost 33 years in the dark without some pretty serious clues early on about what you’ve been living with. You also don’t usually get a diagnosis like CF after almost 33 years, period.
Every time I tell someone about my diagnosis, I get the same question: “Aren’t people with CF usually diagnosed when they’re very young?” Yes…and no. Some of us fall through the cracks of health systems ill equipped to deal with people whose diseases present in even slightly atypical ways. And some of us never make it out of childhood. I almost didn’t. The average life expectancy for adults with CF in the United States is currently 37 years. The list of things that have almost killed me is long and detailed at this point, and I’m still four years shy of that mark.
CF is a genetically inherited disease that affects the entire body. It’s often stereotyped as a lung condition, but this is a misnomer. What actually happens when you have CF is that your mucous membranes don’t work the way other people’s do. Instead of producing relatively fluid mucus that effectively lubricates your tissue and generally helps your body to function, they instead produce a sticky substance best compared to rubber cement. This sticky mucus plugs up ducts in places like the kidneys, liver, and pancreas. It traps bacteria and when those bacteria multiply, they attack and destroy the surrounding tissue, which becomes inflamed and scarred with progressively greater severity in the absence of effective treatment. Over time, the function of different organs gets more and more disrupted.
Because of the ways in which it leads the body to attack its own tissue, CF may qualify as a form of autoimmune disease. This is currently debated in the literature, with a focus on whether autoimmunity is primary or secondary to the disease. Autoimmune conditions like reactive airways disease, interstitial cystitis, microscopic colitis, and Sjogren’s syndrome often occur in people with CF. I’ve been diagnosed with all of these and more in the past. Whether they are direct components of the CF syndrome as a whole or consequences of it remains unknown. But knowing I have CF certainly helps to explain why my diagnostic surgeries have always shown a certain baseline level of inflammation even after long periods of avoiding allergic triggers.
What this looks like on a daily basis for me is that my entire GI tract functions poorly even with medication management, and my lungs require daily inhalations of corticosteroids to remain relatively infection-free. All of my mucous membranes are very scarred, and I have had surgery to remove severe scarring from my bladder that was pressing on the nerves and causing agonizing pain. I have also had multiple surgeries to rebuild my gums using connective tissue from the roof of my mouth. My heart is badly damaged from years of unmanaged electrolyte wasting, causing chronic long QT syndrome. Blood vessels everywhere and nerves in my hands and feet are damaged. My kidneys are showing signs of strain, but at least now I know why my urine is full of rubbery white clumps.
Damage, damage, damage. I have been hospitalized several times, including a stay in the cardiac ICU. My care has been expensive, fragmented, and often totally ineffective. And yet sometimes the worst costs of all are the intangible ones, the fear and the anger and the loss.
Life with CF is a constant state of uncertainty even when you know you have it. Sometimes infection hits like a train and we scramble to recover. Sometimes we drift in and out of hospitals. Sometimes we receive organ transplants. Sometimes we have other types of surgery to salvage damaged tissue. Sometimes medication helps us. Sometimes we just get lucky. Sometimes we get diagnosed early and conclusively and sometimes we wander for years. Sometimes we are told we probably won’t survive.
I’ve had a mixture of all of the above experiences except organ transplantation. That may yet be on the list depending on what my next round of kidney testing shows, though I’m loath to even consider the idea of accepting an organ from a living donor. I say I’ll cross that bridge when I come to it. If having a future means doing nightly home dialysis, I’ll take it in stride. At the end of the day, the relief of knowing feels exponentially better than the fear of wondering.
So why did I not know for so long? I grew up at a medical school, the child of two developmental neurobiologists whose passion for research and education was exceeded only by their love for me. My parents put an astronomical amount of effort into arguing with doctors who dismissed their concerns that I had CF. Years later, these concerns would come full circle and I would see their faces darken with remembered anger. I would feel the heavy silence in the room when my mother shared her genetic testing results with me, having taken the plunge and submitted a 23andMe test kit because she knew it could help me to know what her genome looked like.
I should mention at this point that I am donor conceived. My parents have always been my parents, but I am not a direct genetic relative of my father. Because I was conceived in early 1983, before the laws about sperm donation records were changed so that families could get medical information about anonymous donors, we never knew until that moment that my CF must have come from the donor’s side. I watched my mother’s face as we reviewed her results, which showed no copies of any of the nearly three dozen gene variants associated with CF.
This brings me to the second question I get asked: “Can’t you only have CF if you have matched copies of at least one variant?” The answer, at least according to more recent clinical literature, is a resounding no. Scholars first raised the possibility that heterozygous people could also present with CF as early as 1990, but it took nearly 25 years for the field as a whole to catch up. I am now paying for every one of those 25 years.
The effort to recognize heterozygous forms of CF was driven largely by clinicians who noticed that many people with inconclusive results on the old “gold standard” detection method for CF—a sweat conductivity test—actually had fairly textbook symptoms. This has been the case with me. I have severe involvement of all organs potentially affected by CF except for the pancreas and liver, at least so far. Indeed, a history of inconclusive sweat tests and minimal pancreatic involvement are both common in people with both late-diagnosed CF and heterozygous CF.
Another common thread in late-diagnosed CF is somewhat better long-term survival, although any epidemiologist worth their salt would tell you that’s mostly a selection effect. I can handle being a living and thankfully breathing example of cohort inversion, though. Being alive today, getting ready to celebrate my 33rd birthday, gives me opportunities to advocate for others who struggle to get their voices heard by health professionals and people in their everyday lives. It gives me a chance to fight for the next generation of people who walk the path I’ve walked, and perhaps to spare them some of the pain and suffering I’ve experienced.
In some ways, my diagnosis is the best—if strangest—birthday gift I’ve ever received. Being diagnosed with CF doesn’t usually instill feelings of cheer and celebration for patients and their families, but after 33 years of being slowly killed by a disease with no name and no evidence basis for treatment, I feel like I’ve won the lottery. I’m also conscious that winning the lottery in many other ways earlier in life gave me a fighting chance of surviving long enough to receive a coherent clinical diagnosis.
Ultimately, I’m writing this post today because my privileges in life enabled me to hang on long enough—with a combination of therapies and supports that have sometimes felt like throwing spaghetti against walls to see what sticks—to get some answers that make sense. This is in spite of decades of having good access to health care and associated social resources, as well as both the knowledge and tenacity to advocate for myself.
After working in public health for 10 years, I know what has probably happened to many others like me. Most people with CF are white, yes. But not all of them grew up affluent or had parents with medical research backgrounds or many of the other social privileges I enjoyed. The question of “whose deaths matter” looms large here. The knowledge that I have survived where others have not brings a sense of responsibility, which led me to create an advocacy project (Write Where It Hurts) focusing on the work of scholars who have experienced severe illness and other forms of trauma.
If I could say one thing to other members of the scientific community, it would be this: Nothing—not a sweat test, not a response to medication, not a physical exam—is more important than a person’s own experiences.
In a truly person-centered health system, my clinicians would have asked a lot more questions a lot earlier. They would have told my parents part of the reason the sweat tests were inconclusive was that they couldn’t make me sweat because I was so hypotensive. They would have asked me if under circumstances where my face did sweat, the fluid was so salty it burned my skin. They would have asked me to describe my bowel movements in detail, told me it wasn’t usual to have clumps of undigested fat in your stool. They would have believed me when I said my kidneys hurt or that my calves were swollen.
Maybe then I wouldn’t have sat in a hematologist’s office this past summer staring at the evidence of incipient kidney failure. Maybe now I wouldn’t be hoping against hope that the kidney symptoms are just evidence of vasculitis and nothing more. My life now is a series of maybes. There are companies working to change that. On happy accident, I’ve benefited from some of these therapies already. They just can’t take away the deeper wounds of being dismissed all those years, of feeling alone in my suffering, or of watching my body break down before my eyes.
Developing new therapies for CF, whether the better understood homozygous type or the newly recognized heterozygous type, is not enough. Effective care for this disease is first and foremost about listening to people, and about finding the courage to affirm our voices. Lab tests are not going to save our lives and neither are drugs, because they cannot speak for us or fight for us. But if you are reading this post, you can, and I hope that you will.
Alexandra “Xan” C.H. Nowakowski is a medical sociologist and public health program evaluator who studies patterns and disparities in how people age with complex chronic conditions. Dr. Nowakowski serves as the evaluator for the Florida Asthma Program, helps to lead FSU COM’s new Aging Research Institute, and volunteers with a variety of initiatives focused on health equity and patient advocacy. Along with their spouse Dr. J Sumerau, Dr. Nowakowski founded Write Where It Hurts, an advocacy project for scholars doing trauma informed research. Visit WWIH online at writewhereithurts.net.