[Pammy]

Hi, Robert. I’m not even sure if you will see my comment, as it is now a year past your post. I am a 43 year old female who has had struggles like yours throughout my life. I was diagnosed with bronchiectasis in my late 20’s. I have always had constant sinus and lung infections. One thing that struck me about your story is that you have the exact same mutations as I do. Seeing as how one of our mutations is extremely rare, I never expected to come across anyone else with it. I am so curious as to how you were diagnosed because my doctors will not give me a CF diagnosis. Their reasoning is that my sweat tests have been negative and my rare mutation isn’t yet known to be pathogenic or non-pathogenic. Because of this lack of diagnosis I cannot get myself modulators like Trikafta that could significantly improve my quality of life. My 2 mutations were identified in 2019, so this has been a 6 year struggle for me of getting frustrated with getting no diagnosis. They don’t seem to care that I have 2 mutations and symptoms consistent with CF. I am located in Pennsylvania and where I am, there aren’t many different options of places I can go.

I am glad to know that you seem to be doing well and I hope that you still are! If you have any advice for me to get a diagnosis, it would be much appreciated! Take care! -Pam