Atypical CF

[Gibson75]

Looking for a bit of information and advise.

My son, just turned 6 has had symptoms since birth.
He takes Creon for PI
Suffers constipation
Chronic sinus infections
many URI
Cough - he has had pretty much all his life.
He cultures all the usual bugs - Haemophilus Influenzae, Staph, Streptococcus pneumonia and Pseudomonas.
He is seen by a CF chest specialist and always has good lung function results.
We had full sequencing done when he was 2, and he was found to have F508del and a number of other sequence variants of limited or no known significance. They are about 2 years off being able to test for deleterious mutations which they will do when it is made available.
After his second adenoid removal, his ENT specialist said, "He has all the traits of CF but doesn't have it as he looks too healthy."
All of his sweat tests have been normal.
He has just been seen by a genetics councillor who has thrown around the idea of atypical CF.
I am concerned as my understanding was that Atypical CF'ers only had CF involvement with one area (either GI or lungs)????? and are pancreas sufficient.
I am still lost as to the future of my son. His cousin has CF (DDF08) and her symptoms apart from the sinus issues are very similar, although hers are more advanced as she is ten years older.
Is there anyone with atypical CF with involvement in lungs/sinus and pancreas?

 

[Ratatosk]

DS' symptoms were mainly digestive and sinus. He cultured H. Flu and would get a sinus and/or ear infection. He cultured pseudo usually with not symptoms, though a couple times he did get a junky cough. Nowdays he usually cultures steno. maltophilia and his symptom was an odd, throat clearing kind of cough until he was put on septra. It's my understanding CF is a progressive disease and eventually because of extra thick mucus and infections, the lungs become affected. So we are proactive doing 3 cpt/vest treatments a day, more if he gets a cold. Even those with identical mutations have different symptoms. DS diagnosed at birth due to a bowel obstruction. Friend of mine's daughter diagnosed at 18 months due to multiple URI's. Friend of mine's husband -- diagnosed at age 14 due to failure to thrive. Another local family's daughter was diagnosed at age 3 after her brother was diagnosed via newborn screening. She'd never been sick, not even an ear infection before the diagnosis. So you really can't compare one case of CF to another. Can depend upon what one cultures, if they get sick, is the clinic reactive vs. proactive, can they maintain a healthy BMI..... All we can really do is be vigilant and not worry about the future and what ifs....

 

[Gibson75]

Thank you for your reply Ratatosk. Yes I have heard of some CF's that have a positive sweat test and have very little symptoms when they are young. It does seem the opposite for my boy. He is quite symptomatic however goes normal on his sweat test. I guess time will tell and your right, the best thing to do is be pro-active and keep on top of things.