Cystic Fibrosis is a genetic disease that progresses over time. It can cause persistent lung infections and limits the ability to breathe over time. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes. Normally, these secreted fluids are thin and smooth like olive oil. They lubricate various organs and tissues, preventing them from getting too dry or infected. In people with cystic fibrosis, however, a faulty gene causes the fluids to become thick and sticky. Instead of acting as a lubricant, the fluids clog the ducts, tubes, and passageways in the body.
What is it caused by?
People with CF have inherited two copies of the defective CF gene- one copy from each parent. But don’t worry not everybody has the defective CF gene.
Everybody inherits two copies of the CTFR (cystic fibrosis transmembrane conductance regulator) gene. However, some people can inherit mutated copies. So, for a person to have cystic fibrosis the CFTR gene inherited from both parents must be a mutation. When you have a baby there is a 25% chance that your baby will be born with cystic fibrosis and there is a 50% chance that the baby will be a carrier of the cystic fibrosis gene mutation but they will not have the disease themselves.
What are the symptoms of cystic fibrosis?
The symptoms of cystic fibrosis can vary depending on the person and the severity of the condition. The age at which symptoms develop can also differ. Symptoms may appear in infancy, but for other children, symptoms may not begin until after puberty or even later in life. As time passes, the symptoms associated with the disease may get better or worse. One of the first signs of cystic fibrosis is a strong salty taste to the skin. Parents of children with cystic fibrosis have mentioned tasting this saltiness when kissing their children.
Some other symptoms inclue:
Recurring chest infections, wheezing, coughing, shortness of breath, damage to the airways (bronchiectasis), difficulty putting on weight and growing, and jaundice.
What actually happens and the complications of cystic fibrosis?
When you have cystic fibrosis, a build-up of sticky mucus in the lungs can cause breathing problems and can increase the risk of lung infection. Over time this can cause the lungs to stop working properly. Mucus also clogs the pancreas (the organ that helps you to digest your food), which stops the enzymes from reaching food in the gut and helping your food to become digested. This means that most people with cystic fibrosis don’t absorb nutrients from food properly. This means that they need to eat many more calories than the average person to make sure they don’t become malnourished.
When a person has cystic fibrosis, there are a lot of complications that are easier to develop. These include:
Weak and brittle bones (osteoporosis), diabetes, nasal polyps, sinus infection, and liver problems. They are also more likely to pick up infections and are more vulnerable to severe complications if they do develop an infection.
Is there a cure?
There is currently no cure for cystic fibrosis but there are a large range of treatments that can control the symptoms and make life living with CF a lot easier.