New Cystic Fibrosis (CF) Diagnosis

Posted by ckscoville @ckscoville, Jul 27, 2021

Haven't posted here in a while. My bronchiectasis was not improving, despite my twice-daily breathing treatments (7% saline) and SmartVest. My pulmonologist at Mayo was curious about a cystic fibrosis variant, so he ordered a sweat test. To my surprise, that came back positive. So Mayo then ordered a DNA analysis from Johns Hopkins. After a number of weeks, that came back showing a variant of cystic fibrosis. Because of my clinical presentation, etc., Mayo Clinic has now diagnosed me as having cystic fibrosis! I've got to set some kind of record to be diagnosed with CF at the age of 73! In any event, I'm about to start Trikafta and would appreciate any advice if anyone else happens to be in my situation….

Interested in more discussions like this? Go to the MAC & Bronchiectasis group.

I have suspected for many years that I have CF, but no doc would dX it. But now, at 81 years, I have found a bucket full of genes which relate to CF, in one way or another, around a hundred or so I think. I have not counted them. All but a few of them are Dominant. CF seems to be a rage in gene fashion shows now. Anyway, hang in there.

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@ckscoville I was diagnosed with CF at 65 after my bronchiectasis was getting worse. The pulmonologist ran every test in the book and finally at the end the sweat test. I have one 5T gene and one unknown so my combo is rare and therefore not eligible for any modulators. I hope the Trikafta works for you. I understand it's made a big difference for many. @lindam272

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My daughter was diagnosed as "probable CF" at age 39, after years dealing with intractable asthma which morphed into bronchiectasis. Meds were added to her already complex regimen, and her breathing is finally improved and exacerbations down to one or two a year. Not sure of her current med, but it took 2 years of adjustments to get her to this point. I can only imagine how different her life might have been if she was properly diagnosed in childhood, because she had years of digestive issues as well, most of which are now resolved. Since there is a genetic component, now I'm wondering if her sister should be tested as well…
Sue

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@lindam272

@ckscoville I was diagnosed with CF at 65 after my bronchiectasis was getting worse. The pulmonologist ran every test in the book and finally at the end the sweat test. I have one 5T gene and one unknown so my combo is rare and therefore not eligible for any modulators. I hope the Trikafta works for you. I understand it's made a big difference for many. @lindam272

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Thanks for the reply. I 'm gradually finding out that — while pretty uncommon — others have been diagnosed with CF at an advanced age. I had lung issues pretty much all through childhood and my teen years, but everything was dormant up until about 4-5 years ago.

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@sueinmn

My daughter was diagnosed as "probable CF" at age 39, after years dealing with intractable asthma which morphed into bronchiectasis. Meds were added to her already complex regimen, and her breathing is finally improved and exacerbations down to one or two a year. Not sure of her current med, but it took 2 years of adjustments to get her to this point. I can only imagine how different her life might have been if she was properly diagnosed in childhood, because she had years of digestive issues as well, most of which are now resolved. Since there is a genetic component, now I'm wondering if her sister should be tested as well…
Sue

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I am sorry to hear of the diagnosis. Can you tell me more about the digestive issues? I am 65 with bronchiectasis. In the last six months it is as though my food gets stuck and I end up violently coughing up mucus with what I last ate with it from time to time. I have referrals to Univ of MI by my doc as well as a referral to a speech and language specialist that will explore my food digestion. I am curious what your daughters digestive issues were and how they became better controlled. Thank you!!!

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@vfparker

I am sorry to hear of the diagnosis. Can you tell me more about the digestive issues? I am 65 with bronchiectasis. In the last six months it is as though my food gets stuck and I end up violently coughing up mucus with what I last ate with it from time to time. I have referrals to Univ of MI by my doc as well as a referral to a speech and language specialist that will explore my food digestion. I am curious what your daughters digestive issues were and how they became better controlled. Thank you!!!

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She had an inability to tolerate/digest a number of foods, which is typical of CF patients, so many GI issues, but she does not have the sticky mucus in her lungs that is also typical. I believe she has been given enzymes to help, and is now able to eat a wider range of foods, and has less episodes of nausea, gas, constipation, etc. But it didn't help with her actual food allergies such as wheat, tree nuts and a few others.

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Mayo Clinic also hosts a monthly CF support group on Zoom. It is led by a Mayo Clinic social worker and they often have guest speakers with various Mayo experts.

See more information about the support group and register here:
– Adult Cystic Fibrosis Patient Education & Support Group https://connect.mayoclinic.org/event/adult-cystic-fibrosis-patient-education-support-group/

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@sueinmn

She had an inability to tolerate/digest a number of foods, which is typical of CF patients, so many GI issues, but she does not have the sticky mucus in her lungs that is also typical. I believe she has been given enzymes to help, and is now able to eat a wider range of foods, and has less episodes of nausea, gas, constipation, etc. But it didn't help with her actual food allergies such as wheat, tree nuts and a few others.

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Thank you. I have kept a log of my incidents and am anxious to be seen soon.

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Have you had covid in the pass?

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@sueinmn

My daughter was diagnosed as "probable CF" at age 39, after years dealing with intractable asthma which morphed into bronchiectasis. Meds were added to her already complex regimen, and her breathing is finally improved and exacerbations down to one or two a year. Not sure of her current med, but it took 2 years of adjustments to get her to this point. I can only imagine how different her life might have been if she was properly diagnosed in childhood, because she had years of digestive issues as well, most of which are now resolved. Since there is a genetic component, now I'm wondering if her sister should be tested as well…
Sue

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Digestive issues? Is that related to the CF?

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@laurasn

Digestive issues? Is that related to the CF?

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Yes, it can be. Specific enzymes are absent in some variations of CF, and must be supplied to support digestion of food and absorption of nutrients. You can read about it here: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

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Hey CKS… you are not alone.I have bronchiectasis and MAC I also have the CF gene.t had the CF diagnostic Test done and a sweat test twice.It seems to be inconclusive.My sweat test was 2.9.They are saying I have non active CF. How did they determine this at Mayo Jacksonville.?I am about to go to the adult CF center at Columbia Presbyterian Hospital in Manhattan.I have studied Trikafta,it is the miracle drug for CF but don’t know if it will help Bronchiectasis and MAC.Good luck on the treatment.

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