I'm One of the Only Living Adults in the World with Cystic Fibrosis

Cystic fibrosis almost always kills before a person reaches adulthood. You wouldn't be able to tell that I have a killer genetic condition by looking at me. I have an almost impossible genetic mutation of this already rare condition where my lung damage is mild. Has Johns Hopkins and NIH scratching their heads. They told me they would "learn more from me, than I would from them". They said I would probably have a normal lifespan. 
I spent my childhood trying to tell my parents and doctors that something was wrong with my lungs and they said everything was normal. Doctors said lung xrays were normal. I remember thinking that maybe the xrays weren't sensitive enough to see what was wrong. My dad, a tough military man in the south, would tell me to quit my whining, and I did. I kept the observations of abnormal sensations to myself. Dad so wanted me to be good at sports. Would yell at me "You aren't even trying!" when I'd have to stop because my lungs were on fire or because I would feel suddenly dangerously dehydrated. (20+ years later, I would learn that cf can cause sudden potentially fatal dehydration. Really? No sh!t..) Despite what authority figures were telling me, I knew I had to be very careful and sensitive to the important signals my body was giving me. 

When I got older I was trying to figure out if my odd symptoms and the lung issues were connected or separate issues. I knew that since doctors couldn't figure anything out, I was in constant risk of being labeled a hypochondriac, which would add yet another obstacle to figuring out a seemingly impossible puzzle. I got misdiagnosed multiple times. At one point I saw notes from a specialist (a nephrologist) to my family doctor suggesting that I might have psychogenic polydipsia - a mental disorder where I imagined I was dehydrated and was engaging in excessive water intake. Nice, huh? This particular nephrologist got frustrated with me and announced that he "had REAL sick people to deal with." 

I diagnosed myself specifically with cf years before the doctors did. I'd had a variety of strange symptoms, lung issues, pleurisy (strange for a 30 year old), low vitamin D. Throughout my life my colds almost always turned into lung infections that wouldn't go away until I took antibiotics. Common with cf. This and many other signs pointed me to the possibility of cystic fibrosis. I asked my family doctor what he thought about cf. He chuckled and said I'd have "clubbed fingers" and would've been long dead before age 35. At the time I accepted this, but he was wrong.  Since then, I've encountered many doctors who think the same way.

The variety of emotions that I felt when they verified years later that I did indeed have cf - I can't even begin to describe. No doctor made the brilliant diagnosis. A doctor stumbled on it by accident. My wife and I weren't conceiving. A fertility doctor discovered that there were no sperm in my semen. From an exam of my testicles he said I had 'bilateral absence of the vasa deferentia'. In English, I was missing the tubes that deliver sperm, I basically had a natural vasectomy. There's one main reason a male is missing the vasa deferentia - cystic fibrosis. Then the tests started, but I didn't need them... I knew. I'd always known. A quick and easy sweat test showed my sweat was extra salty, another major sign of cf. A test my family doctor could've easily run years before if I'd just been more stubborn, but doctors hate it when you diagnose yourself. You're supposed to let the experts do their jobs, right? This seems to be a frequent pattern in my life. Having a contrary opinion to experts, but being the polite southern boy dutifully listening and obeying, only to be burned in the end. I think it may be time to start believing in myself a lot more. I've always tried to avoid coming off as arrogant, maybe it's time to stop worrying so much about what people think. The genetic test showed exactly which cf gene mutations I had. They were going to do a test for 300 genes but I pushed for the "complete" gene test (around 2500 mutations) with the assumption that at least one mutation would be an extremely rare one. I was correct. The smaller test would not have caught the second almost unheard of mutation. I even had to pay out of pocket for the extensive gene test, I think it was a couple grand (will verify this info). Hopkins lung CT (more sensitive than a lung xray) picked up the minor lung damage. When I was a kid and thought the lung xrays didn't have good enough resolution, I was right. Simultaneously an ego boost and a nightmare all wrapped in one. As a kid, I'd ID'd what was wrong, but just didn't have the technical name. A bone density scan showed that I had minor bone density issues, another cf symptom. I also highly suspected that my mom had had this atypical cystic fibrosis. She'd died years before, age 67, from respiratory failure. They'd thought she had some atypical form of asthma, and had been on a nebulizer machine for years. I asked the Johns Hopkins doctors "my mom had it too didn't she?" They nodded, and said almost certainly. With women with mild cf it was even harder to diagnose because they don't have the natural vasectomy to give it away. They told me to never smoke, because it would accelerate the cf and be a guaranteed death sentence. Advice my mom could've used because she would smoke from time to time when she got stressed out. If the doctors had accurately diagnosed her, she'd probably still be alive today.

Being a real life case from House is the sh!ts. Especially since nobody like Greg House actually exists to save you. Trust me....  I've looked.

[This is a stub. Will be writing more about cystic fibrosis, my unusual case, and medical mysteries here soon.]

3 comments:

  1. Hi! I am 31 years old and currently going through testing for CF. I had the sweat test last week and awaiting results for the confirmation that I have it. I have many symptoms of it and have been struggling to find anyone else near my age with this. I would love to hear more about you do to manage this disease.

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  2. It used to be more uncommon, but it is becoming increasingly more common. They're finding people who go undiagnosed with atypical CF as late as their 70s. My Aunt had atypical CF and was diagnosed in the 1980's, and died around 1991. She was in her late 30s when she was diagnosed. I'm at the stage where I'm trying to get my docs to do the expanded screening. Even after I told them Judy had atypical CF, they still only screened for 94 variations.

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