This problem has been in my family for at least 80 years. My maternal grand-father and my mother both experienced similar health problems without identifying the cause. My 20 year old daughter also occasionally reports similar symptoms which her CF doctors maintain are not CF related.
I’m still wondering if my being a carrier for Cystic Fibrosis is contributing to my health problems.
Any time I ask any doctor about this hypothesis, they just repeat the dogma that carriers do not experience any symptoms. They talk as if the CFTR gene is like a two part light switch; when both are faulty, you have the disease but it either gene copy is healthy then you don’t have any symptoms, that the disease is completely switched off. But if we think about the genetics, then carriers have only 50% of the CFTR protein compared to a non-carrier. That must have some detrimental effect.
There are two significant effects of this genetic defect in people who have Cystic Fibrosis. The first is that all mucus in the body is thicker and stickier. Healthy mucus is quite thin and slippery. In the lungs thick mucus stops the cilia from clearing the lungs and make it difficult to cough up the mucus. In the pancreas thick mucus blocks the ducts stopping digestive enzymes from reaching the digestive system, so that food is not completely digested. The other significant effect is that the chemistry of the mucus lining the lungs is changed, allowing some bacteria to proliferate that do not normally do well in the human lung. In short, all of the mucus that the body produces in various organ is of poor quality. Carriers do not experience the obstructive effects of thickened mucus but the chemistry of the mucus is different from that of healthy individual. I’m wondering if the changed chemistry of the mucus in a carrier’s body reduces the protective effects of the mucus and allows tissues to become inflamed by various irritants.
I am also a carrier for hemochromatosis. I wonder if there is any interaction between these two genetic defects.
Are there any Cystic Fibrosis carriers reading this who have unexplained health problems that might be related to inflammation of mucous membranes, for example in the sinuses, nose and lungs or in the digestive system?