I was 35 years old when I was diagnosed with cystic fibrosis.
Surprised? Yeah, me too.
I remember trying to express that surprise to the first doctor who mentioned it as a possibility.
“Wouldn't I know if I had cystic fibrosis?”
“You would think,” she said. “Cystic fibrosis is not subtle.”
Turns out, it was at least a little bit subtle. I had been too subtle about symptoms, and every doctor I had ever seen was, apparently, bad with subtlety. That brought me to this moment -- sitting in a urologist's office and hearing a scary idea.
My wife and I were having fertility problems, and some preliminary testing revealed the source to be me. The urologist doing the physical exam knew almost immediately. Congenital absence of the vas deferens. It explained the fertility issues and it's also associated with cystic fibrosis, they said. Maybe I was a carrier. Or, maybe, I felt a few of the effects.
There was a workaround for the fertility issue -- I'm now the proud dad of a little girl -- but the CF? Seemed like something we should probably look into.
A few months later, I met with doctors from the cystic fibrosis clinic at Hasbro Children's Hospital in Providence, R.I. They did the sweat test. While we waited for the results, they listened to my story. I was relatively healthy, but with some chronic issues that had never been fully addressed: asthma, lots of sinus infections, a few bouts of pneumonia, nasal polyps, annoying cough, trouble gaining weight, osteopenia, and digestive problems.
Hearing all that, they didn't really need to see the sweat test results.
I didn't have the classic mutations, but the disease had made an impact, particularly because it had gone unchecked for so long. As shocking and alarming as it was to get the diagnosis, there was also relief. It explained everything and, thankfully, treatments have been effective. Lung function is up. I finally put on some weight. I feel about as good as I ever have.
I try not to dwell on the damage done before I knew, but I do try to learn from how it was allowed to happen.
I took for granted that doctors had it all figured out, never realizing how much we as patients must drive the conversation.
I needed to ask more questions, to push harder for answers, to not accept a misdiagnosis like asthma when it seemed like maybe something more was going on. I also never grasped the limitations of specialized medicine. Of course, an allergy and asthma specialist will treat allergies and asthma. An ear, nose, and throat specialist will focus on polyps. A gastroenterologist will hone in on celiac disease. No one ever put all the puzzle pieces together.
The fault lies with me, too. I wasn't always honest about symptoms. I convinced myself that I was basically fine, and I didn't want anything more to be wrong. Along the same lines, I didn't pay close enough attention. I put my head down and kept going, not noticing that what was once a mild cough was getting about 1% worse every month for years.
Two years in, I'm still a work in progress, but I try to keep all of that in mind for clinic trips. I ask every question I can think of. I don't leave anything out when talking about symptoms. And in between visits, I pay closer attention than I ever have. I'm slowly learning how to feel what's happening in my lungs, instead of ignoring it.
My story is unusual, but those lessons are not. Be your own best advocate. Be honest with yourself. Pay attention.
We're all capable of it. On the day I got the diagnosis, the doctors said they understood if I was overwhelmed and wanted to wait a few weeks to start treatment.
I said I wanted to start right away.
There was no time to be subtle.
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