What Is Cystic Fibrosis?
Cystic fibrosis is a long-term genetic disorder that affects the lungs, digestive system, and other organs. It changes how the body produces mucus, sweat, and digestive juices — making them thick and sticky. This can block the airways, damage the lungs, and cause problems with digestion.
In healthy people, these fluids are thin and help protect the body. However, in those with this condition, the thick mucus clogs the lungs and pancreas, making it harder to breathe and digest food properly. Understanding it and its treatment can help improve quality of life and long-term health outcomes.
What Causes Cystic Fibrosis?
This condition happens because of a change (mutation) in the CFTR gene, which controls how salt and water move in and out of cells. The mutation affects how mucus and sweat are produced.
In Australia, around 1 in 25 people carry the faulty CFTR gene — but most don’t know it. Carriers don’t show symptoms, but if both parents carry the gene, there’s:
- A 1 in 4 chance their child will have disorder
- A 1 in 4 chance their child will not have it
- A 1 in 2 chance their child will carry the gene
Approximately 1 in 2,500 babies in Australia are born with disorder each year (Cystic Fibrosis Australia, 2024).
How Is Cystic Fibrosis Diagnosed?
In Australia, newborns are routinely screened for CF using a heel-prick blood test that’s about 90% accurate. If a baby tests positive, a sweat test is usually done at around six weeks of age to confirm the diagnosis.
Adults who have a family history of cystic fibrosis or ongoing lung and digestive issues can also take a genetic blood test to find out if they are carriers.
Common Symptoms of Cystic Fibrosis
Symptoms can vary depending on which organs are affected. They usually appear in childhood but may develop later.
Respiratory Symptoms
- Persistent cough with thick mucus
- Wheezing and shortness of breath
- Frequent lung or sinus infections
- Stuffy or inflamed nasal passages
Digestive Symptoms
- Greasy or foul-smelling stools
- Poor weight gain and growth
- Constipation or bowel blockages
Because the thick mucus blocks enzyme pathways in the pancreas, people with this disorder may have trouble digesting nutrients, leading to vitamin deficiencies and poor growth.
Treatment and Management
Managing this condition requires lifelong care and a multidisciplinary team that may include doctors, physiotherapists, dietitians, and respiratory specialists.
Common Medications
- Bronchodilators to open airways
- Mucus-thinning drugs like Pulmozyme
- Antibiotics to treat infections
- Anti-inflammatories for lung swelling
- CFTR modulators that target the root genetic cause
- Pancreatic enzymes to improve digestion
- Vitamins and salt supplements to replace what’s lost in sweat
Physiotherapy
Daily physiotherapy helps clear mucus, improve lung capacity, and prevent infections. Family members are often trained to perform airway clearance at home, especially during flare-ups.
In severe cases, people may need lung, liver, or pancreas transplants to extend their lives. Modern CFTR modulator therapies are improving life expectancy and symptom control significantly (Cystic Fibrosis Queensland, 2024).
Possible Complications
Without proper management, cystic fibrosis can lead to:
- Recurrent lung infections
- Malnutrition
- Diabetes
- Liver problems
- Colorectal cancer and cardiovascular disease
Early diagnosis and consistent treatment can prevent or delay many of these complications.
Where to Get Help
If you or someone you know may have cystic fibrosis, reach out for support:
- Cystic Fibrosis Australia: www.cysticfibrosis.org.au | (02) 9889 5171
- Cystic Fibrosis Queensland: www.cfqld.org.au | (07) 3359 8000
- Local hospitals and respiratory clinics can also offer care and referrals.
Understanding cystic fibrosis is the first step toward managing it effectively — and improving the lives of those affected.
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