F508 and I148T/possible CF symptoms?


New member
I'm new to this forum. Does anyone have this combination? My DS (8) has these 2 mutations, which we knew about since birth when he tested positive in his newborn screening but negative in his sweat test (I carry the F508 and my husband carries I148T). We were told that he may develop atypical CF and be infertile but he has never had a follow-up appointment as the reports were buried in his pediatrician's file. Fast forward 8 years...our DS has been to many specialists (neurologists, allergists, endocronologist, psychiatrists) for issues ranging from eyes rolling in the back of his head to anger management & anxiety to chronic snorting (sinusitis?) to small breast cyst. We currently have him undergoing a comprehensive neuropsych exam to rule out autism (this would surprise us)/ADHD/mood disorder, and the doctor asked to see all his medical records. After visiting his pediatrician and reviewing them (none of which I had seen) I realize the common threads in his history: low energy, mood swings/angry outbursts that are not age appropriate, periodic asthma, allergies/snorting. So, here's my leap: could these issues be related to his CF genes? Respiratory issues could cause the snorting/sinusitis/shortness of breath and poor liver functioning/endocrine problems could lead to mood swings and fatigue. We've been going down the path of his problems being more psychiatric in nature but now I'm wondering if there's an underlying medical issue. Any help?