Cystic fibrosis (CF) is a chronic, genetic condition caused by a defect or reduced function of the cystic fibrosis transmembrane conductance regulator (CFTR) transport protein.¹ Whilst CF is a rare condition, it is one of the more common genetic disorders. It can affect various organ systems, such as the skin, lungs, airways, and the digestive system.¹ In CF, there is excessive build-up of thick and sticky mucus in lungs, which can trap bacteria, causing frequent infections and lung damage.^1,2 Close contact or proximity between individuals with CF is not encouraged, as there is high risk of cross infection that can worsen lung conditions.

In CF, there may be blockage of the pancreatic duct preventing the movement of digestive enzymes from the pancreas to the digestive system. This can lead to issues with digesting fats and nutrient absorption, resulting in malnutrition, poor weight gain and poor growth. There may also be inflammation and damage to the pancreas. Individuals with CF have high salt content in their sweat, resulting in salty sweat and increased risk of low blood sodium levels (hyponatremia) and dehydration. Other organ systems may also be affected, which can result in various other symptoms.¹ Daily medication and intensive physiotherapy are often required to manage this life-long and often life-limiting condition.

Synonyms: mucoviscidosis

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

Symptoms of CF may vary between individuals and may include, but are not limited to, the following:^1,2

• a persistent cough with thick mucus
• difficulty breathing, wheezing
• frequent lung infections and lung disease
• malnutrition and poor growth/weight gain due to poor absorption of protein and fat
• poor appetite
• salty sweat with increased risk of hyponatremia and dehydration
• CF-related diabetes (CFRD)
• infertility in males

Some newborns may present with meconium ileus,^1,3 which is the blockage of the bowel/small intestine by the baby’s first faeces.

Individuals with CF may also have other comorbidities (other health conditions).¹

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

CF is caused by disease-causing genetic changes (variants) in CFTR gene.¹

Each individual has two copies (alleles) of the CFTR gene – one on each chromosome that is inherited from each parent. CF is an autosomal recessive condition, which means both copies of the CFTR gene must have the disease-causing genetic variants.^1,2

Individuals with the genetic variant in only one copy are unaffected but will be a carrier and may pass on that variant to their children. If both parents are carriers (each have a copy of the disease-causing variant), there is a 25% chance the child will inherit both disease-causing variants and have CF. Carrier screening (a genetic test to identify if someone is a carrier) is available for CF in Australia. More information on autosomal recessive inheritance pattern can be found at Centre for Genetics Education: Autosomal recessive inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Screening

In Australia, CF is usually detected via the newborn bloodspot screening (NBS) programs.  Shortly after birth and with parental consent, a nurse or midwife will collect the baby’s blood via a heel prick blood test. The healthcare provider will then send it to a specific laboratory to test for a range of rare conditions, including CF. If the results of these tests suggest that the baby is at risk of having one of these conditions, laboratory staff will quickly get in touch with healthcare providers. The healthcare providers will then arrange for the baby to have further testing that will confirm whether the baby does indeed have the condition. The healthcare providers will also organise for the baby to receive urgent care if required. Depending on your state or territory, parents may or may not receive a notification if the test results are clear. You can find out more about NBS in your state or territory at Australian Government Department of Health, Disability and Ageing: Delivering newborn bloodspot screening programs.

Newborn bloodspot screening is a reliable way to check for certain rare conditions early in life. Although it’s extremely rare, cases can sometimes be missed. If you are concerned your baby may have a condition that they have already been screened for, you should contact a medical professional.

Diagnosis

A diagnosis of cystic fibrosis (CF) is made through:³

• measuring levels of immunoreactive trypsinogen (IRT, which is indicative of issues with the pancreas) from a blood sample,
• genetic testing to identify disease-causing genetic changes in genes associated with CF, and
• sweat test to measure the range of sweat chloride

A diagnosis of CF can be suspected based on an abnormal result from NBS but additional tests or a clinical examination will be required to confirm a diagnosis. If the test results from IRT and genetic testing are positive or equivocal (undetermined) for CF, diagnosis is often confirmed using a sweat test.³

Diagnosis of CF is also sometimes made later in childhood or in adulthood. For individuals who are not screened at birth, CF is often diagnosed after symptoms develop. Early diagnosis of CF is essential for timely interventions and management.

Further information about diagnosis of CF is detailed in the Australian Standards of Cystic Fibrosis Care Guidelines found at Cystic Fibrosis Australia: Standards of Care.³

Please speak to your medical team to learn more about the available diagnostic pathways for CF.

There is currently no curative treatment for CF. Management of CF is lifelong, involves a multidisciplinary care team and is often time intensive. It is mainly targeted at the symptoms and usually involves:¹

• Daily airway clearance physiotherapy to clear the lungs.
• Oscillating positive expiratory pressure (PEP) devices to help open the airways.
• Medication, such as enzyme replacement tablets which can help digestion of food.
• Early use of antibiotics for treating lung infections.
• Diet that is high in calories, salt, and fat.
• Salt and vitamin supplements.
• Regular exercise to clear airways and build core strength.

Modulator therapies such as CFTR modulators are also available.³ These medications are aimed at treating the cause of CF to minimise the symptoms but are not curative and may not be suitable for everyone with CF.

Individuals with more serious lung conditions may require a lung transplant.¹

Regular visits to a CF clinic are recommended for individuals with CF to ensure their condition and progress are closely monitored.³ It is also encouraged that individuals with CF avoid contact with each other, due to high risk of cross-infection that can cause their lung conditions to worsen.

Further information may be found at Cystic Fibrosis Australia: Standards of Care, which have been endorsed by the Thoracic Society of Australia and New Zealand.³

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of CF may include respiratory paediatricians/physicians, geneticists, specialist cystic fibrosis nurses, physiotherapists, dietitians, gastroenterologists, occupational therapists, clinical pharmacists, social workers and psychologists or psychiatrists.³ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

There are CF clinics across Australia that provide multidisciplinary support for people living with CF. Information about the CF clinics can be found at Cystic Fibrosis Australia: Support.

The Australian Standards of Cystic Fibrosis Care Guidelines can be found at Cystic Fibrosis Australia: Standards of Care. The standards have been endorsed by the Thoracic Society of Australia and New Zealand and cover topics including facilities and staffing, services, newly diagnosed children, adolescents and adults, inpatient and outpatient care, home therapy, transition care, outreach services and care, transplantation, and end of life care, as well as the role of the CF organisations.³

The Royal Australian College of General Practitioners (RACGP)’s guideline on genomics in general practice for cystic fibrosis can be found at RACGP: Cystic fibrosis.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There may be special considerations for the emergency management of individuals living with CF:

• The care management of individuals with CF is multidisciplinary and delivered by cystic fibrosis clinics. Information about cystic fibrosis clinics available across Australia can be found at Cystic Fibrosis Australia: Support.

The Australian Cystic Fibrosis Data Registry (ACFDR), managed by the Monash University Registries Unit, aims to accurately characterise the demographics, morbidity and mortality of the CF population of Australia over time, use health information to increase awareness and advocate for patient resources, improve quality of care by reviewing and monitoring trends in outcomes by benchmarking CF centres in Australia and internationally, and monitor the impact of new therapies and changed treatment practices.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisations:

Cystic Fibrosis Australia
Website: https://www.cysticfibrosis.org.au/

Cystic Fibrosis Australia is the peak consumer body for people living with CF, with a focus on collaborative programs and research, funding partnerships, and advocacy. Its members are known as the Federations. The Federation (the State and Territory Offices) provide support and services to people living with CF in specific states.

CF Together
Website: https://www.cfcc.org.au/

CF Together is a national organisation dedicated to advancing progress for people living with cystic fibrosis.

State-specific and territory-specific organisations:

The following state and territory CF organisations are members of Cystic Fibrosis Australia (CFA) and work collaboratively together to increase awareness, provide essential services and support research and advocacy initiatives:

Cystic Fibrosis Queensland (QLD/NT/ACT)
Website: https://www.cfqld.org.au/

Cystic Fibrosis Queensland provides support for people living with CF in Queensland, Northern Territory and Australian Capital Territory.

Cystic Fibrosis South Australia
Website: https://www.cfsa.org.au/

Cystic Fibrosis South Australia provides support for people living with CF in South Australia.

Cystic Fibrosis Tasmania
Website: https://cftas.org.au/

Cystic Fibrosis Tasmania provides support for people living with CF in Tasmania.

Cystic Fibrosis Western Australia
Website: https://www.cfwa.org.au/

Cystic Fibrosis Western Australia provides support for people living with CF in Western Australia.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

CF varies between individuals, and each person’s experience is unique.

Please visit the following to read personal stories of individuals with CF:

• Cystic Fibrosis Australia: Breaking Barriers for CF – Community Stories
• CF Strong: Community

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

The Cystic Fibrosis Australia: Federation (State and Territory organisations) provide a range of support services. These include counselling, information workshops and seminars, case management, comprehensive home care services and professional development for allied health personnel, financial support to take part in physical activities.

The National CF Support Line provides practical, free and confidential support for individuals impacted by CF, their family member, carer, and support network.

CF Smart is a free resource for teachers and educators to improve understanding of CF care in an education setting.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on CF can be found at:

• Cystic Fibrosis Queensland: Newborns and the first 12 months
• Cystic Fibrosis Queensland: Transition guide for rural, regional and remote cystic fibrosis teens
• Cystic Fibrosis Queensland: What they don’t tell. A young person’s guide to sexual health
• CF Strong (Cystic Fibrosis Resource Centre)
• healthdirect – Cystic Fibrosis
• Better Health Channel: Cystic fibrosis (CF)
• Genetic and Rare Diseases Information Center: Cystic fibrosis

• Cystic Fibrosis Australia: Standards of Care
• Australian Cystic Fibrosis Data Registry (ACFDR)

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Cystic Fibrosis Queensland.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.