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Cystic fibrosis (CF) is a health condition that affects children from birth and impacts the respiratory and digestive systems. CF is a genetic condition inherited from parents where both parents have the recessive gene. This condition impacts over 3600 people living in Australia today, making it one of the most common rare diseases in Australia.
What is Cystic Fibrosis?
Cystic fibrosis is caused by variation in the CFTR gene. The gene responsible for salt and water in and out of cells in our bodies. When this gene is not functioning correctly it can lead to a build up of mucus in the digestive and respiratory tracts. CF results in a buildup of thick mucus that traps bacteria which increases the risk of infections. Additionally the thick mucus can line the gut, impacting the ability for food to be digested.
CF is often considered an ‘invisible illness’, those living with CF may not look unwell, despite the battles going on inside the body. People living with CF, require weekly physiotherapy to clear the mucus from their lungs and frequently require antibiotics and medication to treat infections and help with digestion. Currently there is no cure for CF, although treatment options are being explored to improve the quality of life and average life expectancy of those impacted.
Cystic Fibrosis Symptoms
Children, women and men with cystic fibrosis can experience a range of symptoms, impacting their quality of life. Those affected by CF are impacted by the condition in a variety of ways. Symptoms experienced by those with Cystic fibrosis may include;
- Difficulty breathing
- Persistent cough
- Wheezing
- Frequent lung infections
- Salty sweat
- Tiredness
- Lethargy
- Reduced ability to exercise
- Poor growth
- Poor weight gain
- Poor appetite
- Frequent visits to the toilet
- CF-related diabetes
- Infertility in males
Treatment and Support
Ongoing treatment, management and support of CF is required for those living with CF. Lifelong monitoring, treatment regimes and support can help people living with CF to participate in normal daily activities. Treatment options may include:
- Daily physiotherapy
- Enzyme replacement capsules
- Antibiotic therapy
- Aerosol mist inhalation
- Salt and vitamin supplements
- Nutritious diet
- Exercise
Diagnosis of Cystic Fibrosis
There are a variety of ways Cystic Fibrosis is diagnosed, and can be tested and screened for, including; a heel prick test and genetic carrier screening. Different testing is used in different circumstances with their own strengths and limitations.
The heel prick test is conducted within the first few days of birth. A sample of blood is collected and sent to a laboratory for testing. The heel prick test is a useful indicator for diagnosing CF, however, is not always capable of detecting everyone. Occasionally, diagnosis of CF may occur later in life, this may be done in the form of a sweat test due to the high salt concentration in perspiration common for those living with CF. Alternatively, it can be diagnosed through genetic screening tests.
CF diagnosis may be challenging to identify as the symptoms of CF can have a wide variety of severity and symptoms. CF can resemble other lung conditions such as asthma or bronchitis, making it challenging to diagnose. Additionally, genetic identification of CF can be made complicated. There are 2000 different gene variants associated with the disease, some of these variants may be identified through a heel prick test conducted after birth.
Carrier screening for CF can be conducted on prospective parents to identify their risk of having a child with CF.
For more information head to:
https://www.cysticfibrosis.org.au/
Who is Medicare Eligible?
Anyone in Australia that is over 18 years of age, female and has a Medicare card is eligible to claim Medicare through Lumi Health.
