Hi everyone, I was DX a few months ago with genetic testing by Ambry. I've had mild symptoms all my life. Chronic cough & frequent Bronchitis & lung infections (never enough to put me on IV Antibiotics) and some mild GI issues. As a kid they tested me for all sorts of things but never came up with the CF DX. Only definitive thing was Bronchectasis, but that's not a root cause, that's a mechanical symptom (as I put it). About 18 mos ago I got MAC (finally gone) but it left me with reduced lung function. I decided it was time for the Doc's to revisit the 'no diagnosis' of my childhood given the 20 or 30 years of medical advancements since then. So I had been pushing pretty hard seeing lots of specialists and having numerous tests done. My sweat test (done at Children's Hosp) was normal. My doc sent me to the Adult CF Clinic at JH in Baltimore because he thought some of the CF treatments & meds might be of benefit to me. Well the Docs there decided to send me for Genetic testing to 'rule out' CF.
Then in March I got the call. Bingo. Positive for CF. Not just positive, but with 3 mutations identified. Two are on one chromosome, and one on the other. What a polar shift in my line of thinking and attitude. I'm relieved to finally know the root cause of my cough and lung issues. All my seemingly random issues over the years (sinus surgery, gall bladder surgery with atypical stones, GI issues) are all related to CF. It all makes sense.
I've been very lucky in that my CF has never really slowed me down. I grew up, went away to college, got married, had a daughter without ever knowing about CF. In retrospect I'm glad I didn't know, because I wonder whether things would have turned out the same! Would my parents have let me go off to college hours away from home? Would I have used CF as an excuse to not work PT, go to school full time, played with the orchestra, competed with the sailing team? I basically burned the candle at both ends (had a few bouts of hospitalized illness), refused to slow down, and got an engineering degree. Would I have taken that first job on the other side of the country? Met and married my husband? Gone back to Grad school part time (while working full time) for a subsequent degree & studies? Would we have been paranoid during my relatively uneventful pregnancy?
I'll never know. But I'm relieved to finally know. It all makes sense. The pieces are falling into place. The search is over.
For those of you who were diagnosed as an adult, did you go for a ride on that same emotional roller coaster? Have you spent hours coming to grips with the diagnosis? Have you been looking back over your life wondering what would have changed if you had known sooner? Surely I'm not alone.
Then in March I got the call. Bingo. Positive for CF. Not just positive, but with 3 mutations identified. Two are on one chromosome, and one on the other. What a polar shift in my line of thinking and attitude. I'm relieved to finally know the root cause of my cough and lung issues. All my seemingly random issues over the years (sinus surgery, gall bladder surgery with atypical stones, GI issues) are all related to CF. It all makes sense.
I've been very lucky in that my CF has never really slowed me down. I grew up, went away to college, got married, had a daughter without ever knowing about CF. In retrospect I'm glad I didn't know, because I wonder whether things would have turned out the same! Would my parents have let me go off to college hours away from home? Would I have used CF as an excuse to not work PT, go to school full time, played with the orchestra, competed with the sailing team? I basically burned the candle at both ends (had a few bouts of hospitalized illness), refused to slow down, and got an engineering degree. Would I have taken that first job on the other side of the country? Met and married my husband? Gone back to Grad school part time (while working full time) for a subsequent degree & studies? Would we have been paranoid during my relatively uneventful pregnancy?
I'll never know. But I'm relieved to finally know. It all makes sense. The pieces are falling into place. The search is over.
For those of you who were diagnosed as an adult, did you go for a ride on that same emotional roller coaster? Have you spent hours coming to grips with the diagnosis? Have you been looking back over your life wondering what would have changed if you had known sooner? Surely I'm not alone.