1. < MAC & Bronchiectasis

Has anyone been tested for Cystic Fibrosis since Bronchiectasis diag?

Posted by mamiebarker @mamiebarker, Mar 12 9:15pm

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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mdf | @mdf | Mar 15 8:11pm
In reply to @tinaesims "It cut my coughing way down. I no longer cough all night so I can finally..." + (show)
@tinaesims

It cut my coughing way down. I no longer cough all night so I can finally get a good night's rest. I have so much more energy and I actually feel healthy.

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@tinaesims that is so awesome. I am so happy for you!

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mtyler | @mtyler | Mar 19 11:11am
In reply to @bateman "I was diagnosed with single gene CF ten years ago. Have had lung problems since 18,..." + (show)
@bateman

I was diagnosed with single gene CF ten years ago. Have had lung problems since 18, I'm 82 now on oxygen full time & low energy. Multiple other auto immune diseases. Treat one condition & that causes other problems. Excellent doctors doing their best to help.

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I have had Bronchiectasis and MAC since 2019 diagnosis and have had health issues ever since.
I was recently tested for CF and found I have elevated sweat test, and one of the variants for CF but they can't identify evidence of a second potential disease causing variant in this gene. However I have all of the symptoms of CF.
I am trying to get on trikafta as my niece's daughter has benefitted immensely from it. My insurance has denied the Trikafta as they say I don't have a diagnosis of CF. I'm 62 and trying to keep working until I"m 65.

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1 reply
scoop | @scoop | Mar 19 12:06pm

Have you had a recent genetic test for CF? They are finding new CF variants as time goes on.

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mamiebarker | @mamiebarker | Mar 19 1:28pm
In reply to @mtyler "I have had Bronchiectasis and MAC since 2019 diagnosis and have had health issues ever since...." + (show)
@mtyler

I have had Bronchiectasis and MAC since 2019 diagnosis and have had health issues ever since.
I was recently tested for CF and found I have elevated sweat test, and one of the variants for CF but they can't identify evidence of a second potential disease causing variant in this gene. However I have all of the symptoms of CF.
I am trying to get on trikafta as my niece's daughter has benefitted immensely from it. My insurance has denied the Trikafta as they say I don't have a diagnosis of CF. I'm 62 and trying to keep working until I"m 65.

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so what are you doing? In the meantime? do you take an antibiotic when you have a flareup?

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1 reply
muon | @muon | Mar 19 5:42pm

Once doctors at National Jewish determined I had MAC plus bronchiectasis, they did a sweat test which was "intermediate". Genetic testing confirmed CF. There are many mutations and not all cause disease. I have one of the less common mutations.

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1 reply
becleartoday | @becleartoday | Mar 20 8:07am

Yes, I was recently tested with a full cystic fibrosis panel. I have one mutation, but it doesn’t appear to be significant. I see my doctor in May and will get more information at that time.

Linda Esposito

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minute22 | @minute22 | Mar 20 9:47am
In reply to @muon "Once doctors at National Jewish determined I had MAC plus bronchiectasis, they did a sweat test..." + (show)
@muon

Once doctors at National Jewish determined I had MAC plus bronchiectasis, they did a sweat test which was "intermediate". Genetic testing confirmed CF. There are many mutations and not all cause disease. I have one of the less common mutations.

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I also had an "intermediate" sweat test and then genetic testing of ninety something mutations which were all negative. Do you know how many mutations were tested for when they picked up the less common mutation?

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1 reply
5416jh | @5416jh | Mar 20 9:57am

I was diagnosed with cystic bronchiectasis last year after I had a cardiac CT scan.
Is cystic bronchiectasis related to, the same as, or something other than cystic fibrosis? 🤷🏼‍♀️

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1 reply
Mentor
Sue, Volunteer Mentor | @sueinmn | Mar 20 10:27am
In reply to @5416jh "I was diagnosed with cystic bronchiectasis last year after I had a cardiac CT scan. Is..." + (show)
@5416jh

I was diagnosed with cystic bronchiectasis last year after I had a cardiac CT scan.
Is cystic bronchiectasis related to, the same as, or something other than cystic fibrosis? 🤷🏼‍♀️

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There are a number of forms bronchiectasis can take, with the cystic version being among the rarer types. It means your bronchii look like a bunch of grapes. You can see a line drawing in this article:
https://radiopaedia.org/articles/cystic-bronchiectasis?lang=us
Were you referred to a pulmonologist for followup?
Sue

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1 reply
muon | @muon | Mar 20 1:14pm
In reply to @minute22 "I also had an "intermediate" sweat test and then genetic testing of ninety something mutations which..." + (show)
@minute22

I also had an "intermediate" sweat test and then genetic testing of ninety something mutations which were all negative. Do you know how many mutations were tested for when they picked up the less common mutation?

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No I do not. I have a Class 5 mutation, which regrettably is associated with disease.

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