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Anyone been tested for Cystic Fibrosis since Bronchiectasis diagnosis?
MAC & Bronchiectasis | Last Active: Jun 15 1:57pm | Replies (41)Comment receiving replies
@ckscoville Did the CF findings change your treatment?
I go to Hopkins and they recently did a Genetic Zoom blood test which resulted in showing I have one CFTR gene. Next is a research study taking some cells and testing them against some CF medications. Then that result is sent to my doctor who then decides if I need more Genetic Testing or something else. This is taking for ever to get done and the information I get is very limited from everyone at Hopkins or maybe I just don't understand how this works.
Would you mind sharing what your process was at Hopkins? I see Dr Belz.
Replies to "@ckscoville Did the CF findings change your treatment? I go to Hopkins and they recently did..."
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@sherrig The primary difference in treatment was/is Trikafta. When they learned that my own genetic deficiency allows me to take Trikafta, my life changed for the better (despite the enormous cost of the drug!). No more 30-40 minute coughing fits when I lie down to sleep, and far fewer bouts with lung infections. Mayo Clinic in Jacksonville has a great CF team that has really made a big difference in my life. As far as the testing at Johns Hopkins, Mayo Clinic ordered a DNA test -- swab done at home and then mailed to Johns Hopkins, with the result going back to Mayo.