I was diagnosed in March of this year at 43 years old, despite having a chronic cough all my life and frequent recurring lung infections plus (some milder) digestive issues. My current FEV1 baseline is in the low 70% range.
A few years ago after getting a rash of lung infections that weren't responding to the usual abx treatments and were accompanied by a decrease in FEV1 to the low 50s%, my regular doctor (who is also a pulmonologist but has more of a GP practice) sent me to another pulmonologist for a 2nd opinion. Doc #2 did a bronchoscopy which cultured a mycobacterial infection. Doc #2 and I had very different philosophies on treatment and we just didn't get along. So Doc 2 referred me to another Doc 3 for another opinion on treatment - and my nagging "why" question. Turns out Doc 3 was just a Yes man for Doc 2 so that trip was worthless. In the meantime my regular doc #1 was kept up to speed on all the opinions and my disfavor of Doc 2 & 3. So Doc 1 then referred me to a CF clinic (for what was a 4th medical opinion which in the words of Doc 2 was "absolutely useless because I can't possibly have CF"). But that merely made me want to go see Doc 4 all the more. <img src="i/expressions/face-icon-small-wink.gif" border="0">
I had pushed Doc 1 for opinion #4 because I wanted to know the "root cause" of my bronchectasis (which I was dxd with in the 1980s). Plus I hadn't had a full "workup" since the early 1980s and a lot had changed since then!! Doc #1 had run all sorts of tests but ran out of ideas. BTW, my sweat test in the 80s was interpreted as 'normal' as was my sweat test I had done in 2006.
Docs 2 & 3 never could explain why I was getting worse and instead wanted to just push more and more meds on me without understanding why I had these recurring issues. Doc #2's solution to most problems was more steroids. Ugh. Doc 1 thought I might benefit from some of the newer CF drugs but since he didn't have experience with them he sent me to the JH Adult CF clinic. You just have to love a doctor who knows his limitations and isn't afraid to put his patient and not his ego first! <img src="i/expressions/face-icon-small-smile.gif" border="0">
So off I go to the CF clinic. Doc 4 (who is totally FAB!) sent my blood out for a genetic test with Ambry. And despite saying that it was *unlikely* that I had CF (because of my age and the fact that I'm overweight & have no family history of CF), he thought it worth the test since they have seen a few cases like mine which are indeed CF.
Well it turns out not only do I have CF but I have 3 mutations. Two on one chromosome, one on the other. So now I only see Doc #1 and Doc #4. Doc #3 is merely a bad memory and I "fired" Doc #2 some time ago. <img src="i/expressions/face-icon-small-wink.gif" border="0">
BTW, Doc #4 said that this year the clinic diagnosed a lady in her mid 70s with CF through Genetic Testing! ~Juliet