Cystic Fibrosis usually called "CF" is the most common life-threatening, genetic condition affecting more than 3,600 Australian children, adolescents and adults. About one person in every 25, or approximately one million Australians unknowingly carry the faulty gene for CF. Carriers are healthy and do not experience symptoms of CF. The birth of a child with CF often comes as a total surprise to a family, with most having had no previous family history of CF.
CF mainly affects the lungs, digestion and sweat glands, but can affect other parts of the body including the liver, pancreas, sinuses, and reproductive organs. CF is a complex disease caused by glands which produce fluid secretions in the body such as mucus, enzymes & sweat. The secretions are normally thin & slippery but in CF they are thick & sticky.
Management and treatment of CF is ongoing and lifelong. The thick & sticky mucus in the lungs is difficult to clear, mucus is often trapped in the small airways, leading to bacterial/fungal infections and inflammation. Treatments involve daily inhalations via a nebulizer and physiotherapy (airway clearance) to help remove mucus from the lungs. Oral and inhaled antibiotics are frequently used to treat infections. Regular visits to CF clinics and hospitalization are common, with a chest infection usually requiring a 2 week admission in hospital for IV antibiotics & intensive physiotherapy, we call them ‘tune ups’. The risk of cross-infection between people with CF is high and they are discouraged from socialising with each other.
The thick & sticky mucus also causes blockages in the ducts of the pancreas, preventing digestive enzymes from reaching the small intestine where they normally break down and digest food, resulting in incomplete digestion, and poor absorption of vitamins and nutrients. This is called pancreatic insufficiency and occurs in about 85% of people with CF. Most people with CF need to take enzymes to help digest their food and they also take vitamin supplements. Good nutrition for people with CF is vitally important in the management of their condition and they need to consume more calories than you or I just to maintain their weight, increase their chance of absorbing nutrients and to help with fighting off infections. Exercise is also important to help clear the airways and build core strength.
All people with CF lose large amounts of sodium and chloride (the two compounds that make up salt) in their sweat, especially with exercise, hot weather, fevers and infections. They can lose 3-4 times more salt through their sweat than those without CF. The CF sweat gland is unable to absorb salt back into the blood. This leaves large amounts of salt in their sweat. Because the level of salt in the blood does not rise, the body has no recognition of thirst. This leads to a higher risk of dehydration. To prevent dehydration people with CF need to replace both salt and fluid.
People with CF can develop CF related diabetes, osteoporosis, nasal polyps (small growths in the nose), sinus infections and cirrhosis of the liver.
Currently there is no cure for CF, and treatments are aimed at slowing the progression of the disease. In recent years a new type of medication known as CFTR modulators have become available. These modulators are treating the cause of CF by correcting the malfunctioning proptein, previously all CF treatments were just targeting the symptoms. While the modulators are not a cure they help the body's cells to function more normally. There are 4 modulators approved for use in Australia - Kalydeco, Orkambi, Symdeko, and Trikafta, and there are also other potential modulators being developed and tested in clinical trials.
The predicted average life expectancy for people with CF has been steadily increasing in recent years, perhaps due to the roll out of the modulator medications and the predicted survival for those born between 2016-2020 is now 56.9 years. The median age of death was reported in the 2021 Australian data registry as 36.8 years.