It was a moment etched in my memory forever: being 35 years old and hearing the words, “You have cystic fibrosis.” Surprise doesn’t even begin to cover it. My initial reaction to the doctor who first suggested it was disbelief. “Cystic fibrosis? Wouldn’t I have known by now?” I asked, bewildered. Her response, “You would think so. Cystic fibrosis is usually not subtle,” only amplified my shock.
Looking back, it’s clear that cystic fibrosis can be subtle, especially when symptoms are overlooked or misattributed. My journey to diagnosis was a winding road paved with subtle signs and missed connections, highlighting the importance of recognizing Cystic Fibrosis Late Diagnosis Symptoms in adults. It all began with fertility issues.
My wife and I were facing challenges conceiving, leading us to a urologist. During a routine physical exam, the urologist identified congenital absence of the vas deferens – a condition where the tubes that carry sperm are missing. This condition, while explaining our fertility struggles, also raised a red flag for cystic fibrosis. The doctor suggested I might be a carrier, or perhaps even experiencing some effects of CF myself.
Will Geoghegan smiles with his daughter, showcasing fatherhood after overcoming fertility issues linked to cystic fibrosis late diagnosis symptoms.
While there was a path to parenthood despite the fertility issues – and I am now a proud father – the cystic fibrosis question lingered. It prompted a deeper investigation into my health history.
Months later, I found myself at the cystic fibrosis clinic at Hasbro Children’s Hospital. Despite it being a children’s hospital, adult CF diagnoses, particularly late diagnoses, are increasingly recognized. They performed a sweat test, the standard diagnostic test for CF. As we awaited the results, the doctors listened intently as I recounted my medical history. I considered myself relatively healthy, but a constellation of chronic issues painted a different picture: asthma, frequent sinus infections, recurring pneumonia, nasal polyps, a persistent cough, difficulty gaining weight, osteopenia, and digestive troubles.
As I listed these seemingly disparate ailments, the medical team seemed to connect the dots even before the sweat test results were in. It became increasingly clear that these were not isolated issues but rather cystic fibrosis late diagnosis symptoms that had been overlooked for years.
The sweat test confirmed their suspicions. While I didn’t have the classic CFTR gene mutations typically found in early diagnoses, the impact of the disease was undeniable, exacerbated by years of being undiagnosed and untreated. The diagnosis, while initially jarring, brought a sense of relief. Finally, there was an explanation for the myriad of health issues I had faced. Even better, effective treatments were available.
Since starting treatment, my lung function has improved, I’ve gained weight, and my overall well-being has significantly increased. I try not to dwell on the potential damage caused by the years of undiagnosed CF, but I am committed to learning from the experience.
The biggest lesson? I had implicitly trusted that doctors always had the complete picture, failing to realize the crucial role patients must play in driving their own healthcare journey.
I needed to be more proactive – asking more questions, pushing for clearer answers, and challenging diagnoses like asthma when my intuition suggested something more complex was at play. I also recognized the limitations of specialized medicine. Each specialist – the allergist, the ENT, the gastroenterologist – addressed their specific area of expertise in isolation, without connecting the broader pattern of cystic fibrosis late diagnosis symptoms.
However, I also acknowledge my own part in the delayed diagnosis. I wasn’t always forthcoming about my symptoms, often downplaying them or simply accepting discomfort as normal. I convinced myself I was “basically fine,” perhaps subconsciously avoiding the possibility of a serious underlying condition. Furthermore, I wasn’t paying close enough attention to the subtle changes in my body. A mild cough, initially insignificant, had imperceptibly worsened over years, becoming a constant companion.
Two years post-diagnosis, I am still learning and adapting, but I approach healthcare interactions with a newfound sense of agency. I prepare questions for every clinic visit, ensure no symptom goes unmentioned, and meticulously monitor my health between appointments. I am learning to listen to my body, particularly my lungs, and recognize subtle changes that previously went unnoticed.
My story of late diagnosis is not typical, but the lessons learned are universally applicable. Become your own advocate. Be honest with yourself and your doctors. Pay attention to your body.
We all possess the capacity for self-advocacy. On the day of my diagnosis, when the doctors asked if I needed time to process before starting treatment, my answer was immediate. “I want to start right away.”
When it comes to your health, especially when you suspect something more than the obvious, there is no time for subtlety. Recognizing cystic fibrosis late diagnosis symptoms can be the first step towards a healthier future.
