Introduction
May marks Cystic Fibrosis Awareness Month—a time to shine a light on one of the most common life-limiting genetic conditions in Australia. Cystic Fibrosis (CF) affects approximately 1 in 2,500 babies born in Australia, with over one million Australians being carriers of a CF gene. Raising awareness is not only essential for improving understanding of the condition but also for promoting early diagnosis and access to life-extending treatment and support.
General Practitioners (GPs) are at the frontline of healthcare and play a pivotal role in identifying CF symptoms early, guiding families through the diagnostic process, and supporting long-term management of the condition.
Understanding Cystic Fibrosis
Cystic Fibrosis is a genetic condition that primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, leading to thick, sticky mucus that can clog the airways and trap bacteria, resulting in recurring lung infections and progressive respiratory damage.
How is CF diagnosed?
Thanks to Australia’s universal newborn screening program, most children with CF are diagnosed within the first few weeks of life. Diagnostic methods include:
Newborn blood screening (Guthrie test) – detects biochemical markers associated with CF.
Sweat test – measures the salt level in sweat; high levels are indicative of CF.
Genetic testing – confirms mutations in the CFTR gene.
Symptoms to watch for
While most CF diagnoses are made in infancy, some milder cases may go undetected until later in childhood or even adulthood. GPs should be vigilant for symptoms such as:
- Persistent cough and wheezing
- Frequent lung or sinus infections
- Difficulty gaining weight or failure to thrive
- Salty-tasting skin
- Greasy, bulky stools or difficulty with bowel movements
The Role of GPs in CF Care
GPs are a critical part of the CF care team. Their role extends from early detection to long-term support and care coordination.
Early detection and referral
Being aware of the signs and symptoms of CF, especially in cases where the diagnosis is not yet confirmed, allows GPs to:
- Promptly refer patients for diagnostic testing
- Provide guidance and support to families awaiting results
- Coordinate with specialist services for confirmatory diagnosis and initial treatment
Ongoing care and monitoring
For patients already diagnosed with CF, GPs provide:
- Routine health checks and vaccinations
- Management of exacerbations or complications
- Monitoring for co-morbidities such as CF-related diabetes or liver disease
- Mental health support, as chronic conditions can take a toll on psychological wellbeing
Supporting families
Families navigating a CF diagnosis often experience emotional and logistical challenges. GPs play an essential role in:
- Offering empathy, continuity of care, and trusted guidance
- Referring families to psychosocial support services
- Helping with care coordination between hospitals, allied health, and community resources
Advancements in CF Treatment & Support Resources
Medical advancements
In recent years, there have been significant strides in CF treatment, notably:
- CFTR modulator therapies like Trikafta, which target the underlying cause of CF rather than just the symptoms
- Continued development in gene therapy research, aiming to correct the defective CFTR gene
These treatments are showing remarkable improvements in lung function, weight gain, and quality of life for many patients.
The multidisciplinary approach
CF management requires a team effort. GPs work closely with:
- Respiratory specialists
- Physiotherapists (for airway clearance techniques)
- Dietitians (to support nutrition and enzyme supplementation)
- Pharmacists, social workers, and psychologists who form part of CF care teams in specialist centres
Support organisations
Australia is fortunate to have a strong network of support for CF patients and families, including:
Cystic Fibrosis Australia – provides advocacy, education, and research funding
State-based CF organisations – offer direct support programs, equipment subsidies, and respite options
Carer Gateway and NDIS – for additional carer and disability support services
Conclusion
Cystic Fibrosis Awareness Month is an opportunity to reflect on the progress we’ve made—and the work still to be done. Early diagnosis and intervention can significantly improve the prognosis for people with CF, and GPs are central to making this happen.
By staying informed, recognising early signs, and working as part of a multidisciplinary care team, GPs help CF patients live longer, healthier lives. Let’s use this month to raise awareness, support ongoing research, and advocate for better access to care and treatment for all Australians affected by CF.
Let’s make every breath count.
