Cystic Fibrosis (CF) is the most common life threatening genetic condition in Australia. CF affects many of the body’s systems, including lungs and digestion. Improved medication and treatments have seen life expectancy extend considerably.
Babies are born with the disease. CF is an inherited genetic condition, and both parents have to carry the gene.
For a child to be born with CF both parents must carry the CF gene; they usually do not know they are carriers of the CF gene. One CF gene from each parent will result in a pregnancy with a : - One-in-four chance a child will have CF - Two-in-four chance a child will not have CF – but will carry the CF gene - One-in-four chance each baby will NOT have CF and NOT be a CF carrier
Today, more than one million Australians carry the faulty CF gene. One in every 25 people, often unknowingly, carries the CF gene. Some 80% of parents who have a child with CF were unaware they were carriers.
Following the discovery of the CF gene in 1989 it is now possible to offer carrier testing. However, this is not a simple matter as whilst there is one most common gene for CF, there are over 900 mutations of the gene. Because of this, carrier testing is usually offered only to those people who have a family history of CF. However, the availability of testing varies from state to state in Australia. Further information is available from CF Associations. In Queensland, genetic services are provided by Genetic Health Queensland (GHQ) based at the Royal Children’s Hospital, Brisbane. GHQ provides an outreach service, so you may be able to access genetic counselling in a nearby town. Contact the main GHQ office on (07) 3636 1686 for more information.
In Australia, all babies are screened at birth for CF. A blood spot test is applied and if this test proves to be positive, a sweat test will be done to measure the amount of salt in the sweat, and it is with this test that a final diagnosis is made.
Yes, if there is already a child with CF in the family then testing can be carried out at 10 weeks of pregnancy. Parents of a child with CF are encouraged to have genetic counselling before planning a further pregnancy. This test is not conclusive due to the many mutations of the CF gene.
CF is not contagious and is strictly genetic. Coughing is a frequent symptom of CF. Because of this, some people are afraid they may catch it, but CF is an inherited condition which is present at birth. You cannot ‘catch’ CF and you cannot give it to anyone else.
In cystic fibrosis there is a problem with the protein that controls the movement of salt in and out of the cells. Too much salt in the cells causes mucus to be very thick and sticky and to build up in organs like the lungs. The mucus clogs the tiny air passages in the lungs and traps bacteria. Repeated infections and blockages can cause irreversible lung damage and death. Mucus can also cause problems in the pancreas, preventing the release of enzymes needed for the digestion of food. This means that people with CF can have problems with nutrition.
People with CF may have the following symptoms:
Treatment for CF can be intensive and time consuming. At present there is no cure for CF and treatment is therefore aimed at slowing progression of the condition.
Treatment has improved greatly in recent years and advances continue to be made. Studies have proved that regular attendance at a major CF centre or clinic is beneficial. This enables people to experience the expertise of the CF team which includes doctors, physiotherapists, dieticians, social workers and nurses.
The treatment for lung problems includes:
Most people will require this treatment on a regular daily basis and some may require aerosol medications to assist breathing.
Exercise is encouraged on a regular basis to maintain a healthy lung capacity. Sport and aerobic exercise are recommended for all age groups of people with CF.
It is common for people with CF to encounter some difficulties with their lungs. A combination of airway clearance techniques and medication can help control lung infections and prevent lung damage. To avoid the risk of cross infection, people with CF need to ensure they do not come into close contact with others with CF.
CF affects the pancreas (which produces the enzyme needed to digest food) and makes it difficult for people with CF to absorb food. This can cause malnutrition, which can lead to poor growth, physical weakness and delayed puberty. There is medication that can compensate for the failure of the pancreas.
To improve absorption of food, most people with CF require enzyme replacement capsules with meals and snacks.
To improve nutrition and maintain body weight, a well-balanced diet high in protein, fat and calories is required.
Some people may also require supplementary vitamins.
In older patients, insulin production can become deficient due to increasing pancreatic disease.
Some develop CF related diabetes and their blood sugar levels are no longer controlled. However, this rarely happens to children with CF. Common symptoms of diabetes include thirst, hunger, weight loss and excessive need to urinate, but some people do not show obvious symptoms of diabetes.
Salt supplements and additional fluids are required in hot weather, during strenuous exercise and in cases of fever.
In every 10 babies born with CF, one is ill in the first few days of life with bowel obstruction called meconium ileus. In these cases, the meconium (a thick black material present in the bowels of all newborn babies), is so thick that it blocks the bowel instead of passing through. Babies with meconium ileus often need an urgent operation to relieve and bypass the blockage.
People with CF are prone to osteoporosis (thin, brittle bones) due to the nutritional and other problems involved with the disease. Adults with CF are at an increased risk of osteoporosis because of the adverse effects of steroids taken to control lung disease.
Although CF does not cause sexual impotency, it can lead to fertility problems. In most men with CF, the tubes that carry sperm are blocked, which causes infertility. Because underweight women are more likely to have irregular menstrual cycles, the nutritional problems associated with CF may affect fertility. However, women with CF do produce healthy, fertile eggs so effective contraception is necessary.
CF can cause the blockage of small ducts in the liver. This only happens to approximately 8% of people who have CF.
A small percentage of people with CF may also develop diabetes (another function of the pancreas is the production of insulin). However, this is not common before teenage years.
CF is no longer just the childhood disease it was years ago when most children did not survive their teen years. Today, life expectancy for many people with CF has increased to 38 years.
CF does not impair intellectual ability in any way. Most students with CF have a good attendance record but will require time off for clinic appointments and possible hospital admissions.
The transplanted lungs come from people who do not have CF, so the new lungs do not have and will not develop CF. However, after transplant, the person still has CF in the pancreas, sweat glands, sinuses and reproductive tract. The person still has to take enzymes with food and to help absorb the anti-rejection medications.
For more information contact Cystic Fibrosis Queensland on (07) 3359 8000 or firstname.lastname@example.org