WHAT IS CYSTIC FRIBROSIS?
WHAT IS CYSTIC FIBROSIS?
Cystic Fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.
Symptoms of CF
People with CF can have a variety of symptoms, including:
- Very salty-tasting skin
- Persistent coughing, at time with phlegm
- Frequent lung infections including pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor growth or weight gain in spits of a good appetite
- Frequent greasy, bulky stools or difficulty with bowel movements
- Male infertility
DIAGNOSIS AND GENETICS
Cystic Fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene – one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:
- 25 percent (1 in 4) the child will have CF
- 50 percent (1 in 2) the child will be a carrier but will not have cf
- 25 percent (1 in 4) the child will not be a carrier and not have cf
The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.
WHAT TO EXPECT
Cystic Fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individuals health and the course of the disease.
People with cystic fibrosis are at greater risk of getting lung infections because thick, sticky mucus builds up in their lungs, allowing germs to thrive and multiply. Lung infections, caused mostly by bacteria, are series and chronic problems for many people living with the disease. Minimising contact with germs is a top concern for people with CF.
The buildup of mucus in the pancreas can also stop the absorption of food and key nutrients, resulting in malnutrition and poor growth in the liver. The thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.
Breakthrough treatments have added years to the lives of people with cystic fibrosis. Today the median predicted survival age is close to 40. This is a dramatic improvement from the 1950’s when a child with CF rarely lived long enough to attend high school.
Because of tremendous advancements in research and care, many people with Cf are living long enough to realise their dreams of attending university, pursuing careers, getting married and having kids.
While there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.
TREATMENTS
The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual’s unique circumstances.
Each day, people with CF complete a combination of the following therapies:
- Airway clearance to help loosen and get rid of thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends, or respiratory therapists. Many People with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
- Inhaled medicines to open the airways or thin mucus. These liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
- Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multi vitamins.
HOW IS IT DIAGNOSED
Since 1986, all newborns have been subject to a heel prick test. This test is used to screen for a number of conditions, one of which is an inidicator for Cystic Fibrosis.
Diagnosis may also result after a baby is born with obvious CF symptoms such as bowel blockage or failure to “thrive”. The heel prick test doesn’t detect everyone and the definitive test for Cf continues to be the Sweat Test, as high levels of salt in perspiration is extremely common amongst those with CF.
DID YOU KNOW?
More than half of the Cystic Fibrosis population is over 18.
DID YOU KNOW?
More than 70,000 people worldwide are living with Cystic Fibrosis.
DID YOU KNOW?
More than 75 percent of people with CF are diagnosed by age 2.
DID YOU KNOW?
Cystic Fibrosis is a genetic disease.
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