Hi Beewowd. Let me make sure I understand your status. You tested positive for one potential CF gene - R117,T5 - and then went to a geneticist who did no further testing, based on your agreement since you were basically symptomless. Is that correct? If so, let me say that when I read your earlier posts, I didn't really feel that you were symptomless. You mentioned having some gastric issues including reflux that are classic of CF. Of course those kind of issues can also exist without having CF too. But that why you want more testing.
I would of course suggest you see someone at a CF Center and get full genetic testing if you can get them to do that! There are so many mutations that initial screenings never include them all. They are usually looking only for the most common ones. They tested you for the most common ones and came up with one. I suspect that IF you have a second CF causing gene, it's not one that was on the initial panel they did. But once you have one gene that is indicative of CF, it makes sense to do a full panel and see whether they come up with a second one.
In addition, even if you are only a carrier, I would want to know if your husband is a carrier as well. I believe most children born with full blown CF (two CF genes, one from each parent) have parents who are unsuspecting carriers. Of course some have parents who have CF. But most have parents who are only carriers. They each carry one CF causing gene. So every child they have has a 1 in 4 chance of getting the CF causing gene from BOTH parents, which results in full blown CF.
By the same token, even if you have two CF genes, your children will only be carriers unless your husband is a carrier as well. That's because you only give one of your genes to your children - the other has to come from their father. And if he is not a carrier - I,e, does not have ANY CF gene, then your children will only be carriers based on the one CF gene you gave them and the nonCF gene he gave them. So . . . . . In short, get tested so you know.
As for weight gain, a CFer can be overweight. It depends on the functioning of their pancreas and not all mutations cause pancreatic insufficiency. Certain mutations (most) are associated with pancreatic insufficiency. And that's where weight gain becomes a problem. Enzymes are designed to overcome this problem with processing the nutrients in foods and in most cases are very successful. So a CFer on enzymes can become overweight as well, although it is more unlikely than the average person! My CFer, born at a very low birth weight, with a meconium ileus, and clearly pancreatic insufficient but on enzymes, is in the 85% for his age and height. In other words, the doc would have told us he needed to watch his weight, except they consider it "insurance" for a CFer! CFers tend to lose weight quickly when sick. He needs his extra padding! I also suspect extra padding may be a indicator of inappropriate processing of calories and fats, so I wonder if there isn't more to it. But thats my personal theory . . . .
As for polyps. There's a lot of that around here in my household. They are fleshy growths in the sinuses that can exist without your knowledge when small, but often grow to larger sizes which cause the accumulation of bacteria, fungus, and other nasties, and can block or interfere with breathing, especially when trying to sleep. They can also cause nasal drainage to get stopped up by blocking the usual route out of your nose. So based on your characterization, they may be polyps causing your problems. But polyps can exist in any of the sinuses, which means they may not be visible by simply looking up your nose for those fleshy growths. An ENT can take a look and tell you for the most part. They can usually be simply controlled with nasal steroids, but sometimes grow too large and are too persistent to be relieved without surgery. They also tend to recur - some people have them regrow every few years, and some have them regrow within 3 months or less. They do seem to allow introduction of many common nasal bacteria into the lungs, since it is difficult to eliminate these bacteria by simply blowing your nose as most people do. Polyps block drainage out, and encourage drainage down the throat. The simple answer for you is a good CF Center to explore your genetics and symptoms.
I would love to hear the outcome of your visits and testing. Do take heart. You are obviously in a more mild range and diagnosis and treatment if you do have CF will only make you healthier. Blessings.
