Cystic fibrosis is a serious and life-threatening condition, but research gives hope for sufferers to live longer and healthier lives.
Recent Hollywood movie Five Feet Apart did a lot to promote awareness of the serious and life-threatening condition Cystic Fibrosis, known as CF. Though it caused controversy with its depiction of a romantic relationship between two young sufferers of the condition, the film was welcomed for bringing to light some of the most serious aspects of the disorder.
Cystic Fibrosis is a genetic condition which attacks the lungs and digestive system. There’s also evidence that it can lead to heart problems in later life. There is currently no cure, though treatments are improving all the time.
CF is usually diagnosed in newborn screenings by a blood or sweat test. A faulty gene—the CFTR gene on chromosome 7—causes the condition. It’s carried by one in 25 of us, usually showing no evidence of CF or other symptoms. However, if both parents have the same faulty gene, there is a one-in-four chance that the child will develop CF.
If a child is diagnosed with CF, siblings also need to be tested for the condition, and if a member of your family is diagnosed, it’s a good idea to have a carrier test. This can be done from a genetic sample using a special mouthwash, or from a blood sample.
The faulty gene means there are difficulties with the cells passing sodium, which builds up as thick mucus. In the lungs, the mucus build-up affects movement of the cilia, the hair-like projections which line the bronchea. This prevents mucus and debris from being removed from the lung, leading to breathing difficulties.
CF can also affect any organ system that produces mucus in the body, including the sinuses, gastrointestinal tract, pancreas and liver, so CF sufferers can experience a wide range of symptoms including sinusitis, nasal polyps, osteoporosis (thin, weakened bones), arthritis and liver problems. They can also develop diabetes from late childhood or early adulthood if the pancreas becomes severely damaged.
As the pancreas becomes blocked with mucus, enzymes needed for digesting food cannot reach the stomach, so CF patients often need to take more than 50 tablets a day to help digest food and keep respiratory symptoms in check.
Men with CF are usually infertile, and pregnancy can place a lot of stress on the body of a woman with CF.
There’s also evidence that CF affects the heart and circulatory system, causing symptoms such as enlargement of the right side of the heart, and at this time there is little effective treatment for this condition.
Although there’s no cure for the condition, treatment can help control the symptoms, making it easier to live with and slowing the damage it causes.
A combination of physiotherapy and medication can help control lung infections and reduce the build-up of mucus. Children with cystic fibrosis usually need medication and physiotherapy every day. Physio sessions can be between 15 minutes and an hour long and may be needed more than once a day.
Children with cystic fibrosis lose a lot of calories because they can’t digest food properly. They need a very high fat, high calorie, high protein diet and may need to take certain dietary supplements.
For older patients, self-care options such as home and remote monitoring mean that people with CF can use a pulsometer or lung function meter on themselves to monitor their own weight and wellness.
Another possible treatment is The Vest, an advanced airway clearance system using an air pulse generator which rapidly compresses and releases the chest wall up to 20 times per second. However, this system is controversial, and the Association of Chartered Physiotherapists in Cystic Fibrosis does not recommend it as the sole airway clearance technique, particularly for children.
Medication can include antibiotics for chest infections (sometimes administered intravenously), mucus thinners such as hypertonic saline, bronchodilators to widen the airways and reduce inflammation and enzyme supplements to aid digestion.
Attacks known as pulmonary exacerbations can still lead to frequent hospitalisation, possibly for weeks at a time. If the lungs are severely damaged by repeated infections, a double lung transplant may eventually be necessary.
Experts suggest that CF sufferers should never have contact—the ‘six foot rule’ should be maintained to minimise risks of cross-infection, hence some of the controversy surrounding the film Five Feet Apart. Certainly, the condition requires strict segregation to be in place at CF clinics and means that it’s impossible to organise support groups.
However, more than half the people with CF in the UK will now live past 47, and babies born today are expected to surpass that. With more than 50 percent of the CF population in work or education and many people with CF having families of their own, the future is much brighter than before.
This feature was originally published in the summer edition of Healthy Child with Dr Ranj Singh, which you can also read here!
The Human Genome & Our Health