Cystic Fibrosis affects approximately 30,000 people in the United States
Cystic fibrosis, also known as CF or sixty-five (65) roses, is an inherited genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing the CFTR protein to malfunction. When the protein is not working correctly, it’s unable to help move chloride to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Although cystic fibrosis requires daily care and treatments, people with cystic fibrosis are usually able to attend school and work. Improvements in screening and treatment options have given people with cystic fibrosis the ability to live into their mid- to late 30s, on average, and some are living into their 40s and 50s.
What Causes Cystic Fibrosis?
Cystic Fibrosis is a genetically inherited condition. For someone to have CF, they need to inherit a mutated gene from both of their parents. For couples who want to have children, genetic testing is also important as more than 10 million Americans are carriers of a CF gene. For every pregnancy, there is a one-in-four chance that the child will have CF when both parents are carriers.
People with only one copy of the mutated gene are called carriers. They do not have the condition or any of its symptoms. To have the disease, both parents must be carriers of the mutated gene.
If two carriers have a child, there is a:
- 25% chance the child will have CF
- 50% chance the child will be a carrier but will not have CF
- 25% chance the child will not be a carrier and will not have CF
Signs & Symptoms of Cystic Fibrosis
Signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Most of the symptoms of cystic fibrosis affect the respiratory system and digestive system. The thick and sticky mucus associated with cystic fibrosis clogs the air passages that carry air in and out of your lungs as well as block tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines are not able to fully absorb nutrients from food.
recurring lung infections
wheezing, shortness of breath
poor weight gain or growth
greasy, bulky stools
Learn more about Airway Clearance
Find out more about HFCWO Airway Clearance Therapy with the AffloVest
Diagnosing Cystic Fibrosis
All newborns in the U.S. are screened for Cystic Fibrosis by testing a small blood sample. This can indicate that a baby might have a health condition and require further investigation. Seventy-five percent of people with CF are diagnosed by the age of 2 years. There are over 1,700 known mutations of the CF gene. As a result, most genetic tests for the condition only screen for the most common mutations. Additional diagnostics include:
The newborn screen shows infants who have a high level of an enzyme called immunoreactive trypsin in their blood. This occurs when there is injury to the pancreas. The test is repeated if it is abnormal. Some states also combine this with testing for the most common gene mutation called deltaF508.
People with CF have high levels of chloride in their sweat because a lack of CFTR prevents the salt on the skin from being reabsorbed back into the sweat glands. Sweat is collect in a special device that is attached to the arm, and then tested in a lab. High amounts of salt will confirm CF.
If someone has a history of CF in their family, they may choose to get carrier test. A simple mouthwash or blood test can determine if someone is a carrier of the faulty gene that causes cystic fibrosis. Carrier testing is often done for people who are thinking of starting a family and have a relative with cystic fibrosis.
Managing Cystic Fibrosis
There is currently no cure for Cystic Fibrosis, however there are a number of treatment options that can manage the symptoms of the disease and improve a person’s quality of life.
Airway Clearance Therapy
People with Cystic Fibrosis need to perform “airway clearance therapy” (ACT) daily, sometimes several times a day. This can be done using active cycle of breathing, manual chest physiotherapy (CPT), a high frequency chest wall oscillation (HFCWO) therapy vest, a positive expiratory device or an airway oscillationg device. These method use percussion, vibration and drainage to loosen and mobilize mucus in the airways, enabling it to be coughed up.
Mucus Thinning Medication
Mucus thinners, such as mucolytics, are inhaled medications that help thin the mucus in the airways so it can move out of the lungs more easily. A nebulizer or inhaler is often used before or i nconjusction with airway clearance therapy. Commonly used mucus thinning medications include albuterol, which relaxes the airway and helps mucus to clear; dornase alpha, which thins the mucus so it can be coughed up more easily; and hypertonic saline solution, which helps restores moisture and salt to the cell surface in the airway.
The buildup of thick, sticky mucus in the lungs makes people with cystic fibrosis more likely to develop bacterial infections that can last for short periods of time (known as acute infections or exacerbations) or for many years. Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways:
- Orally or by mouth – this is the easiest and cheapest route.
- By inhalation – this is more expensive but very effective.
- Intravenously (IV) – this is usually reserved for those who are sicker.
Nutritional Therapy for Digestive Symptoms
Since cystic fibrosis can also affect digestive function and keep the intestines from absorbing important nutrients like fat and vitamins from food, which means that children with CF may be short and underweight for their age, may get sick a lot because their bodies can’t fight infections well. Obstruction in the pancreas can lead to malnutrition and poor growth, therefore a high-calorie, high-fat diet is essential for normal growth and development in children with CF. It can help adults to maintain optimal health.
People with CF need extra calories and nutrients to help them fight infection and keep their lungs strong, particularly if they get sick with colds or the flu A different kind of diet or additional supplements, such as pancreatic enzyme supplements, salt, or vitamins, may be needed to balance the absorption of nutrients. Good nutrition is vital, as individuals with CF need to maintain a robust defense against an increased risk of lung infection.
Is Airway Clearance Right For You?
Learn More About AffloVest