Question:
My son was just diagnosed with the CF gene, but we cannot get him tested for CF now due to medical limitations. We were having him looked at for growth issues, and he has a persistent cough, so the doctor screened him for CF. He came back positive for the gene. We do not know how to take this.
We live aboard, in a third world country that is known for its horrible pollution. Our son has a dry cough that is only occasionally there, but persistent enough that it is noticed. He’s never been hospitalized for anything and never has had serious respiratory problems, but has gotten what can only be called colds frequently. We just thought it was the bad air, but now we are not sure. His chest colds, while frequent, are never severe and he runs around screaming even when sick.
Additionally he is small for his age. I am not sure how to interpret this. His mother, and mine incidentally, are both small people, and we took him to a doctor who thinks his height is genetic (his bone age x-ray was only a few months off his actual age). He is also a poor eater, what we thought was the problem when we had him checked out.
Lastly, he does not seem to have stool problems, which is symptomatic of CF.
We do not know what to think. He could be a carrier, but there is just enough in the “maybe” category with symptoms to make us wonder. We cannot find anyone with experience in these matters however. Can anyone offer advice?
Answer:
I guess I don't really understand what you mean about your son being "diagnosed with the CF gene." If you have one copy of the gene you are a carrier. If you have 2 (one from each parent) then you have CF. What sort of tests did they do? Typically CF is diagnosed with a sweat test which measures the amount of chloride in your sweat. A high result indicates CF. Or you can be diagnosed by a genetic blood test which looks at your DNA.
Answer:
You need to find out immediately what the results mean. Testing positive for the CF gene could mean he's a carrier, or that he does in fact have CF. Please ask whether they found 2 copies or 1. You'll need to contact the doctor and ask specific questions.
What would prohibit you from getting a sweat test- is it not available where you live?
You do not have to have bowel problems to have CF, my son did not.
Please don't wait, if your child has CF he needs enzymes to properly break down food, he'll need proper meds for his cough.
Just reading your post: the pollution, the whole family is small, no bowel problems, is making me think you are trying very hard to come up with all the reasons why it isnt CF. That is not going to help your child- there are DEFINATIVE tests that tell you YES or NO- let the test results determine the truth.
Please type in CYstic Fibrosis on your search engine along with the country you live and get answers quickly.
Answer:
The results we received simply indicated that the gene was present, but no indication of a double or single gene. Additionally the sweat-chloride test is unavailable here. In fact very little is available here.
The problem is that I think we are getting worked up for nothing. We are both concerned, but I really do not see anything definitive, which makes me wonder. . We’re going to be about two months without getting to a knowledgeable doctor, and I do not want to put ourselves through hell without reason.
His symptoms, if he has CF, are mild enough to escape several specialists, and I don’t know if this is possible. Could he have such a mild case of CF that no one has noticed anything at all until now?
Answer:
My son had two negative sweat tests but when they did the gentic tests he came back wit three polymorphisims. They give the patient some symptoms of cf, called variant cf but it is not considered a full blown cf case. Did your son come back with any positive variants or polymorphisims?