I am a late dx as well at 33. I am considered atypical CF as well, as I have one known mutation (can't remember what it is, not a common one though) and a variant from what I remember being told. I was tested for CF because I was culturing bugs that aren't in the normal population...PA and B cep to be specific. My primary doc was actually the one who got the ball rolling. When she suggested I get tested, I thought she was nuts..CF after all, is a child's disease, not something diagnosed as an adult. She persisted, I got sweat tests done, they came back at 48 and 50, twice (or was it 52...either way, high borderline)..
Growing up, I had severe asthma issues, especially in my 20's. I was hospitalized several times a year for respiratory issues....not once did they do cultures, they treated me empirically with IV's. I would improve, they would pull the IV and I would be sent packing....and this happened more times than I can count.
When I finally got the CF dx, I had diabetes as well. I also have digestive issues and was determined to be mildly pancreatic insufficient, sinus problems also plague me. And so ,even though I have a known mutation and a variant (I should make clear that the variant is questionable as far as being disease causing) and borderline sweats, I was diagnosed. I was devastated because I also had concurrent issues with my diaphragm and muscles, it appears that I have some kind of myopathy as well. It was a lot to digest and it took me some time to accept it and the multitude of treatments that comes with CF.
These days, I am treated not so much as an atypical CF'er, but as a classical CF. I have serious lung issues, my FEV hovers in the 30's and I suffer from constant infections requiring frequent IV's (lately, every 2 months or less). My pulmo is very aggressive, I am on hypertonic, pulmozyme, colistin, duonebs, azithromycin.......creon, every med that could possibly help right now. I often wonder how I would be today if I had been diagnosed earlier in life, when treatment could have been started and prevent some of the damage that is there today. But in the end, I am glad I am getting the appropriate treatment now and have a team that I trust and am so thankful for that.
As far as my friends/family goes....even today, they sometimes are in disbelief that I have CF and also say that CF is a kid's disease, that I couldn't have it. When they say that, I educate them, point them to sites that have reputable information (not outdated 80's info). My kids were tested for CF, just in case....with attention on my son because he had severe asthma as a young child. Thankfully, his sweats were negative as well as other tests so he is okay, just a carrier.
I live in a rural area, but I go to my pulmo who is about a hour and a half away. But if I had to, I suppose I would move closer to appropriate care, especially now that my lungs are so fragile.
I am glad you are finally getting the care that you deserve, it sometimes feels like an uphill battle getting doctors to even look at you. To be honest, I went through that with a few doctors and promptly dismissed them from my care until I found the ones that I have now, who take me seriously and are aggressive in my care. You have to do what you must to get good care, and if it means moving if it is at all possible, then it would be worth considering.
Jenn 40 w/CF
