What is Cystic Fibrosis?

Cystic Fibrosis (CF) primarily affects the lungs and digestive system because of a malfunction in the exocrine system that’s responsible for producing saliva, sweat, tears and mucus. There is currently no cure.

People with CF develop an abnormal amount of excessively thick and sticky mucus within the lungs, airways and the digestive system. This causes impairment of the digestive functions of the pancreas and traps bacteria in the lungs resulting in recurrent infections, leading to irreversible damage. Lung failure is the major cause of death for someone with CF.

From birth, a person with CF undergoes constant medical treatments and physiotherapy.

Who gets Cystic Fibrosis?

CF is autosomal recessive, meaning that it occurs equally in males and females. The CF gene must be inherited from both parents and it can skip generations.

In Australia, one in 2,500 babies are born with CF, that’s one every four days. On average one in 25 people carry the CF gene and most are unaware that they are carriers. Because carriers of CF are unaffected and therefore show no symptoms, it is hard for them to appreciate that CF may be a real risk.

Any of us could be a carrier and we wouldn’t know. Think about it, that’s about 1 million unaware carriers – it could be you!

In Tasmania, 1 in 20 people carry the CF gene. This is the second highest rate in the world behind Ireland.

How is it diagnosed?

Since 1986, all newborns have been subject to a heel prick test. This test is used to screen for a number of conditions, one of which is an indicator for cystic fibrosis.

Diagnosis may also result after a baby is born with obvious CF symptoms such a bowel blockage or failure to “thrive”. The heel prick test does not detect everyone and the definitive test for CF continues to be the Sweat Test, as high levels of salt in perspiration is extremely common amongst those with CF.

How is Cystic Fibrosis treated?

Carrier screening

Management and treatment of CF is lifelong, ongoing and relentless.

A person with CF may consume up to 60 capsules daily to help digest food and may need to do up to four hours of airway clearance physiotherapy each day.

It is important for people with CF to visit a Cystic Fibrosis Treatment Centre several times each year so their progress can be monitored.

Treatment generally involves:

Intensive daily physiotherapy to clear the lungs
Enzyme replacement capsules with food to aid digestion
Antibiotic therapy to treat lung infections
Aerosol mist inhalations via a nebuliser to help open the airways
Salt and vitamin supplements
A nutritious diet that’s also high calorie, high salt and high fat
Exercise – important to help clear the airways and build core strength.

Bear in mind they must do all this in and around their normal daily activities like going to school or work.

People with CF are not encouraged to socialise with each other. The risk of cross-infection and exacerbation of lung conditions is too great.

That means CF can be a lonely existence in the respect that people with CF cannot personally interact to share experiences and offer support.

Cystic Fibrosis came into the human genome about 5,000 years ago and it has survived and spread. Today there are more than 1,600 mutations that lead to CF, some of which are particular to individual families. At the other extreme, one mutation, Delta F508, is present in some 72% of all cases worldwide.

Carriers are symptomless and live normal lives. They are overwhelmingly unaware of their CF carrier status. Yet they have every chance of passing on the gene to the next generation and that generation to the next and so on – it is only a matter of time before a member of the family is born with CF.

So what happens when two carriers have children?

Two carrier parents have a 25% chance of having a child with CF with each pregnancy.

1 in 4 chance the child will have CF
1 in 4 chance the child will not have CF (will not have a copy of or be a carrier of the CF gene)
2 in 4 chance the child will be a carrier of CF (having one copy of the CF gene)

Where an infant receives the CF gene from just one parent, he or she will not be born with CF, but will throughout life, be a symptomless carrier of the CF gene like his or her parents.

Thinking about having children? Then first we urge you to think carrier screening.