S1235R mutation

bcblake3a

New member
Hi everyone. My son is 9 years old and a few years ago we were told they suspected cf. After numerous sweat tests and genetic testing it was discovered that he has S1235R and 7T. We’ve been told this combo is non disease causing but that he still needs to be treated as though he does have cf. He is being treated as though he has cf with the exception of enzymes. He has also been colonized with pseudomonas for about 4 years. He has done yearly “tune ups” once a year for the last few years and have been told to exercise cf precautions at school as well. When he is inpatient they put him on cf precautions also. We are hoping to find someone who has the same mutations or has a similar story. They have tested him for other genetic things as well, we are just hoping to connect with others and hear their experiences. Thank you!
 
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