Cystic Fibrosis

Facts on the Condition

General description including
types, causes, prevalence, signs and symptoms

Cystic Fibrosis is the most common life threatening genetic disorder effecting Australians. It is an autosomal recessive disorder which occurs equally in males and females. A child will only be born with CF if he/she receives a copy of the ‘CF gene’ from both parents. The recessive nature of CF means that a child who receives the ‘CF gene’ from one parent and a normal gene from the other parent becomes a ‘carrier’ and never develops the disorder. One in every 25 people in the community is a symptomless carrier of Cystic Fibrosis. This equates to approximately 1 million carriers in Australia.

If both parents are carriers of the ‘CF gene’, then every pregnancy has a one in four chance of producing a child with CF. One in every 2,500 babies in Australia will be born with Cystic Fibrosis. Since 1989, there has been a national Newborn Screening program for Cystic Fibrosis so that all babies born in Victoria are now tested for Cystic Fibrosis. Currently pre-natal testing is available ONLY to those who are carriers.

Approximately 3,000 people across Australia have Cystic Fibrosis. More than 600 people with CF live in Victoria. CF is a life shortening condition and, in the past, most children with CF did not survive childhood. Today however, with improved treatment and a lot of hard work, most people with CF are living into adulthood and leading productive lives.

Cystic Fibrosis predominantly affects the lungs and the digestive system. People with Cystic Fibrosis produce an abnormal amount of thick and sticky mucus that is very hard to move, causing blockages. In the airways, the mucus traps bacteria and this leads to repeated lung infections that will eventually cause irreversible damage to the lungs. Lung failure is the major cause of premature death for someone with Cystic Fibrosis.

In most people with CF, the pancreas is not able to produce sufficient enzymes to digest food and therefore they must consume enzyme capsules with every meal. Daily salt supplements may also need to be taken as they loose a lot of salt in their sweat, particularly in hot weather. The liver can also be affected.

Most males with CF do not have a vas deferens (the duct which carries sperm from the testes) and are infertile. However, as they are still able to produce sperm they can father children using IVF techniques. Women with CF may also have reduced fertility but in most instances can conceive naturally.

Every person who has Cystic Fibrosis is affected to varying degrees; no two people with CF are the same. Some people have more problems with the lungs, others with the pancreas and the digestive system. In some instances, the symptoms are so mild that the person may not be diagnosed until later in life (eg when trying to conceive).

Who can have Cystic Fibrosis?

Cystic Fibrosis is an inherited genetic disorder. You are born with Cystic Fibrosis - you cannot catch it from someone else. People living with Cystic Fibrosis range in age from babies and young children through to adolescents and adults.

Treatments, including role of specialists,
effects of treatments, use of devices, daily routines

People with Cystic Fibrosis must undertake a daily health regime which can include physiotherapy for airway clearance, exercise, attention to specific dietary requirements and nutritional supplementation and antibiotic therapy. This regime helps to prolong their lives and also maximises quality of life.

• Daily physiotherapy is required to loosen up the mucus in the lungs and clear the airways. Examples of the types of physiotherapy used include:
• Chest Percussion: Patting on the chest to help loosen up mucus in the lungs
• Postural drainage: The person with CF lies in various positions to allow gravity to assist in draining mucus from the lungs
• Pep-masks and Flutter devices: Involves breathing into a device that uses pressure to loosen up the mucus in the lungs
• Exercise: This is encouraged as part of the daily routine as it loosens mucus and promotes deep breathing

Antibiotics are used to treat chest infections. These may be taken orally, intravenously or breathed in through an inhalation mask using a pump. Intravenous antibiotics are given in hospital as part of a ‘chest tune up’.

A person with CF can take up to 40 pancreatic enzyme supplement tablets each day. Taken with meals, the enzyme supplements assist with the process of digestion and allow absorption of essential nutrients. Additional dietary supplements, such as vitamins and calcium tablets, can also be used. People with CF are encouraged to consume a diet that is high in salt, fats and calories to help provide their high-energy requirement and meet nutritional needs. In general, people with CF require an energy intake of 120% – 150% of the recommended daily allowance.

An adult with CF can consume nearly a full supermarket trolley of medication, supplements and other items every month.

Children and adolescents with CF can spend large amounts of time in hospital and can miss a lot of school. As they grow older people with CF may need to have leave from their employment to attend appointments at their CF clinic or ‘tune ups’ in hospital.