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Adult Cystic Fibrosis: Anyone have CF mutation S895N?
I carry a CF variance S895N, very common in Taiwanese, or specifically for Asian. Asian do not carry the most common CF mutation Caucasian carry and the symptoms are quite different ( usually without digestive symptoms or just BE or sinus infection) so CF is very much underdiagnosed in Asia. Though my sweat tests ( twice) is negative, I believe this mutation causes me bronchiectasis. I had frequent newborn pneumonia. My parents told me I had Otitis media twice before school age. I am now diagnosed as mild bronchiectasis/ MAC. I wonder how likely a mutation carrier will develop another CF mutation and become a CF patient. By research, I know currently there is no medication to treat this mutation.
I will see a CF director in NYU to understand this mutation next month. If anyone can recommend a great doctor in CF, that will be appreciated.
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I am a 66 year old petite female. Lung problems started in 2009. First diagnosed with MAC. Have had that 5 times, along with Aspergillosis a few times, COPD, asthma, bronchi estasis and just recently diagnosed as a carrier for CF. The CF is confusing to me as my sweat test was 60. My gene mutation is R352W C1054>T. 7T/7T. I have had several nodules. Some of which have irregular borders and hazy. Measuring .6cm. Pulmonologist says not to worry as the nodules are most likely inflammation. I also have had pseudomonas since December 2025. Now I’m on Cipro to treat for them. He said I will always have them. I nebulizer 3% saline once daily as it burns my throat and chest am on Simbicort inhaler, Aerobkia, try to do airway clearance, huff coughing. Very rarely do I cough up any mucus. I get pneumonia and bronchitis all the time. I just started going to the CF clinic 2 weeks ago. It was basically a Dr visit that day as I had bronchitis. I have an ENT referral in May since I have headaches /migraines daily since January 1 of this year! Have had migraines since I was 12. I also have GERD. Anything information someone can share with me I would greatly appreciate it! Sorry for the lengthy post. Thak you.
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2 Reactions@vdart Looks like you are qualified for modulator therapy.
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1 ReactionOk thank you. I will ask my pulmonologist about it.
@vdart I am so sorry you're going through all of that. You mentioned that you're rarely able to cough up any mucus. Have you tried a vest or anything else to help you do that? The repeated MAC infections would seem to indicate the need to clear your lungs out more effectively. I understand your aversion to the 3% saline; I had to switch from 7% to 3% for the same reason, a raw throat. But the twice-daily sessions with albuterol and 3% saline have helped me.
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2 ReactionsThank you.
I have tried the vest twice. But it aggravated my migraines and caused chest pains even on lowest settings. Thank you though. 😊