Cystic Fibrosis (CF) is the most common life threatening genetic condition in Australia. It affects over 3000 people in Australia and approximately 80,000 worldwide. Most people do not realize, 1 in 25 people carry the gene that causes CF, every four days a child is born with cystic fibrosis and more than 1,000,000 Australians carry the gene mutation.
Cystic Fibrosis is a recessive genetic condition, the gene is passed down from the parents; a child must receive a copy of the defective gene from both parents for CF to be present. If one parent passes down a defective gene, the child will be carrier. If both parents are carriers of the defective gene, there is a 25% chance that their child will receive a copy of the defective gene from both parents and have CF.
The CF defective gene codes produce a protein controlling the flow of salt and water outside the organs, including the lungs and the pancreas. In cystic fibrosis, the balance of salt is disturbed, leading to too little salt and water outside of the cells. This results in the secretions that are normally thin and slippery to become thick the sticky.
The secretions plug up tubes and organ passageways, such as the airways or intestines. In your lungs this leads to recurring chest infections requiring lengthy stay’s in hospital having intravenous antibiotics often called a “tune-up”. Over time your lungs become damaged and lung function can be significantly reduced.
In the pancreas thick mucus keeps natural digestive enzymes from getting to the intestine where they are required to break down fats and protein, this can leads to malnutrition, painful stomach ache and sometimes bowel blockages. I take synthetic digestive enzymes every time I eat in order to absorb the nutrition from my food and avoid these symptoms.
Every person with CF is unique complications can include liver disease, pancreatitis, gallstones, osteoporosis, sinusitis, diabetes, arthritis, repeated pneumonia and men are usually infertile. CF is different for every person and symptoms/complications vary.
CF is not contagious, because CF causes coughing, some people think that you can catch it. CF is genetic, you are born with it, you cannot catch it and you cannot give it to any one else. Some bacterial infections are contagious only to other CF patients; for this reason, patients are encouraged to stay away from one another, CF can sometimes be an isolating disease because of this.
CF has no cure at this time, but with treatment, most people with CF grow up and lead active full lives. In 1968 when I was first diagnosed, predicted life expectancy was around 10 years old. Improved treatments over the past 4 decades have seen vast improvements in patient outcomes, with many living productive adult lives going on to have a career, family and engage in normal life activities.
The faulty gene that causes CF was identified in 1989 and doctors and scientists are working to find ways to repair or replace it. New gene therapy’s are becoming available for specific gene type’s, providing new hope for those affected by CF.