Health Topics Information

Understanding Cystic Fibrosis

Understanding Cystic Fibrosis

Cystic Fibrosis (CF) is a rare genetic disease that is found in about 30,000 people in the U.S. and 70,000 individuals worldwide. This disorder affects the lungs, sinuses and digestive system. The disease causes the body to produce an abnormally thick mucus that clogs the lungs, airways, and blocks necessary digestive enzymes from reaching the intestines. This makes infections and permanent lung damage more likely to develop and causes difficulty in breathing.

Common symptoms of CF are:

  • Coughing or spitting up mucus
  • Constipation
  • Frequent coughing
  • Difficulty breathing
  • Frequent lung infections
  • Wheezing
  • Saltier-than-normal sweat
  • Poor growth

What Causes Cystic Fibrosis?
CF is a genetic disorder caused by a mutated (abnormal) gene passed on to children from their parents. Both parents must be carriers of the abnormal gene for the condition to be present in the child.

There are more than 2,000 different mutations that can cause cystic fibrosis. Medical research has uncovered new therapies for some specific types of mutations that cause CF.

For example, if both parents carry the genetic mutation associated with CF, the odds of having a child with the disorder is one in four, or 25 percent. Since Jan. 1, 2006, the North Dakota newborn screening panel of tests includes a screening for CF. While newborn screening should identify approximately 99 percent of infants with CF, an occasional child will continue to be diagnosed only when clinical manifestations suggestive of CF develop.

There is currently no cure for cystic fibrosis, however there are a number of available treatments for CF, including:

Medications
They can help reduce and treat lung infections, thin mucus, aid digestion, and improve breathing.

Targeted Therapy
Kalydeco, Orkambi, and Symdeko are FDA-approved medications that can improve and restore the function of the abnormal gene protein with specific mutations. Additional therapies are under development.

Chest Physical Therapy
Mucus is loosened from lung walls with the help of a vibrating device or cupped hands, making it easier to cough up. This therapy is used daily and often several times a day. Removing mucus from the lungs helps breathing and lowers the risk of infection.

Nutritional Supplements
These can improve intake of needed vitamins, encourage growth, and support good health.

Early diagnosis and advances in treatment have helped increase the life expectancy for people with cystic fibrosis. In fact more than half of patients living with CF are now 18 or older and are able to attend college, pursue careers and have a family. Advancement in treatment therapies and medications have helped to improve survival and increase lifespan in individuals living with CF.

If your newborn screening is positive your doctor can help you determine the necessary tests to confirm or rule out a diagnosis of CF, and connect you with an accredited center.

 

Deb Fueller is a nurse practitioner at CHI St. Alexius Health Heart & Lung Clinic and is the coordinator for the cystic fibrosis adult clinic since 2007. CHI St. Alexius Health Heart & Lung Clinic’s Cystic Fibrosis Center is an accredited Cystic Fibrosis Center and follows the care model developed by the Cystic Fibrosis Foundation. Our CF care center delivers effective and efficient healthcare for pediatric and adult individuals with CF. Patients receive collaborative care from an interdisciplinary team of specialists.