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What is Cystic Fibrosis?
Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe.
In people with Cystic fibrosis, a defective gene causes a thick, 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.
Although cystic fibrosis requires daily care, people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.
What Causes of Cystic Fibrosis
Cystic fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. Approximately, one in 25 Canadians carry an abnormal version of the gene responsible for cystic fibrosis. Carriers do not have cystic fibrosis, nor do they exhibit any of the symptoms of the disease.
When two parents who are carriers have a child, there is a 25 percent chance that the child will be born with cystic fibrosis; there is also a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will neither be a carrier nor have cystic fibrosis.
How common is Cystic Fibrosis?
Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.
Who is affected with Cystic Fibrosis?
Cystic fibrosis is most common in white people of northern European descent.
It is estimated that one in every 2,500 babies born in the UK will be born with cystic fibrosis and there are more than 9,000 people living with the condition in this country.
The condition is much less common in other ethnic groups.
Symptoms of Cystic Fibrosis
Cystic fibrosis is a multi-system disorder that produces a variety of symptoms including:
- Persistent cough with productive thick mucous
- Wheezing and shortness of breath
- Frequent chest infections, which may include pneumonia
- Bowel disturbances, such as intestinal obstruction or frequent, oily stools
- Weight loss or failure to gain weight despite possible increased appetite
- Salty tasting sweat
- Infertility (men) and decreased fertility (women)
Cystic Fibrosis Diagnosis
Cystic fibrosis is one of the conditions babies are screened for with the newborn blood spot test.
A small amount of the baby’s blood is taken by a heel prick and transferred onto a card. The blood sample on the card is then analysed in the laboratory for cystic fibrosis and eight other conditions, including sickle cell anaemia.
Treatments for Cystic Fibrosis Diagnosis
The type and severity of CF symptoms can differ widely from person to person. Therefore, there is not a typical treatment plan.
People with CF need to work closely with their medical professionals and families to create individualized treatment plans.
The CF Foundation accredits more than 120 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.
Each day, people with CF complete a combination of the following therapies:
- Airway clearance to help loosen and get rid of the 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 the mucus. These are 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 multivitamins.
The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.
In 2015, the FDA approved the second drug to treat the root cause of cystic fibrosis, a defective protein known as CFTR. The first drug targeting the basic genetic defect in CF was approved in 2012. The arrival of this group of drugs, called CFTR modulators, signals a historic breakthrough in how CF is treated. It’s expected that CFTR modulators could add decades of life for some people with CF.