My son was diagnosed at 6 years old and has the genetic combination R117H as one gene and 5T as the other. I'm very confused at what this all means. Can anyone clarify?
His genetic testing came back as having R117H as one gene and 5T is recorded as the other gene (genetic testing was completed at John Hopkins). He has several positive sweat tests, he is pancreatic insufficient, has advanced sinus disease and has been hospitalized for reoccurring lung infections. I can not find any information on 5T as it's own mutation. very confused. I'm just trying to gather as much information as possible.