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Anyone been tested for Cystic Fibrosis since Bronchiectasis diagnosis?
Hello! I was diagnosed with Bronchiectasis in Feburary after being sick with pnuemonia since the beginning of September. After a plethera of lab tests, screenings, and dna testing my doctor is sending me to Nemours to rule out Cystic Fibrosis. I am 62 . Have any of you had this experience?
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I go to Kaiser NorCal. I had genetic testing done and found that I had a CF gene. If I had a pair I would obviously have CF. The gene that I do have has a variant that maybe causing both my asthma and bronchiectasis. After taking my blood, the results did take a month or so. A genetic counselor called to give me the results.
I am so grateful for these groups to know others have had these struggles to find a diagnoses and then to try to find treatment and specialists. I have a glimus vagale paraganglioma diagnoses in 2012 after colon cancer in my 30’s. I was diagnosed with bro chiectasia never even heard of it b it lived a life long of bro chitins and pneumonia every time I got sick. Now my ent said have you ever been tested for cystic fibrosis? I was like what?!?!? My pulmonologist never mentioned this to me. 🤦🏻♀️🤷🏻♀️so my sweat test showed intermediate and now I’m being sent to Tampa General for additional testing??? What do I expect? What can be done if O have it I haven’t gone down the rabbit hole yet! I’m with my teenage sons on a little adventure before they go back to school. Can anyone help with this process I thought I had anxiety and depression before but I’m starting to give up a bit on my body’s ability to repair itself 😔 needing some positive comments but real ones, if anyone has any info on more natural approaches that’s great too like photobiomodulation and hydrogen machine by KASHIF Kahn and copper peptide injections to regenerate tissue? MAC and mullein yes! I have an oxygen machine and smart vest
Thanks so much so blessed to have this forum!!🌈🙏🏼oh one last thing when friends and family ask about these conditions I feel like I’m making this shit up, they are like why keep going to doctors make your reality yours and don’t define by tests. I have a hard time with that. My inability to breathe and just be out in public is my reality, people vaping and smoking and my breathing is affected by cologne perfume and public restrooms and private ones in drs offices with scented hand sanitizers I feel like I’m dodging bombs all day long and my lungs tell me that when I e been exposed multiple times, even at a gas station. Do I need to move to Mars???😣
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3 Reactions@taracronwall
Sorry I cannot help re the cystic fibrosis. I have NTM and bronchiectasis. You did make me laugh about dodging the smell from vaping and cigarettes. Certain perfumes set me off too. Sometimes it is not worth going out. Wish you well in your search for answers
@taracronwall , I totally understand your feelings and f frustration! I haven’t been given a diagnosis of cystic fibrosis. Though I do understand everything else you’re going through. Since I was a baby, I also had chronic bronchitis and pneumonia., then was diagnosed with bronchiectasisand had my lower lobe of my lung removed at 30. I’m now in my 60s and it’s harder to recover from these episodes. When I’m working and out in the public, I also am dodging smoke, public restroom, deodorant, sprays, etc. it’s horrible. You’re not alone and I too hope you find more answer ❤️
I got tested after being diagnosed with MAC and I am a carrier of one gene for CF. It is imperative to get this information because I have children that are having children and they got tested as well. One had the gene and the other did not.
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1 Reaction@vmorton
At NJH my sweat test was positive but the full CF panel was not so the answers aren't always clear cut BUT asking the right questions is.
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1 Reaction@tconz
I initially had a sweat chloride test, which was negative. Later, I mentioned to my pulmonologist that my father had had many symptoms that, looking back, were suggestive of cystic fibrosis. Because of that family history, she repeated the sweat chloride test, which again was negative.
She then ordered comprehensive CFTR gene sequencing (rather than the standard mutation panel), which looked for approximately 1,700 CFTR mutations. The testing found that I have one pathogenic CFTR mutation. At this time, there isn’t a specific treatment for my particular mutation.
However, this testing can be very important because some people with BE have CFTR mutations that are responsive to CFTR modulator therapies, such as Trikafta or Alyftrek. These medications have been life changing for many people with cystic fibrosis who have eligible mutations.
Happy weekend,
Linda Esposito
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6 Reactions@smtdoc What was your "positive" sweat result? Anything 60 and up, along with CF symptoms, should permit a dx, which would allow access to Vertex modulator therapy. Modulators are having great results in clinical trials of NTM in CF carriers!
@becleartoday What was your sweat test result?
@taracronwall I'm so sorry you've been through so much and continuing to be in this frustrating process. I can certainly relate to trying to explain to friends and family WTF is going on with my body when it's not clear to me and nothing is straight forward. I have BE and NTM which no one has heard of and the doctor's can't explain what caused it. In the ongoing work-up to try to pin down a cause I was found to also have an intermediate sweat test but then the extensive genetic testing (bloodwork) revealed no DNA mutations that would qualify me for the modulator drug. Now I'm going to be tested for 2 other genetic lung conditions PCD (primary ciliary dyskinesia) and another. Assuming those are negative I'll be back to the who knows status. I'm trying to sort things out medically while at the same time living my life as fully as I can. I wish you luck with answers, ease of breathing and mental health. We are all hear for listening, you are not alone.
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