Answers to questions families often have about caring for their child with cystic fibrosis
What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic disease that causes cells to make mucus thicker and stickier than normal. The disease is progressive, leading to chronic lung infections and making it hard to breathe over time. People with CF may also have problems with the pancreas and other organs, leading to problems digesting foods and other issues.
Mutations in a certain gene (the cystic fibrosis transmembrane conductance regulator [CFTR] gene) cause abnormal production of a protein involved in making sweat and mucus in many parts of the body.
In the lungs, the thick mucus blocks airways, causing harmful germs to get trapped. This can lead to infections, swelling, failure to breathe, and other health problems. The pancreas normally releases digestive enzymes to help the body take in food and key nutrients. However, the build-up of thick mucus traps these digestive enzymes, causing poor nutrition and growth. Thick mucus in the liver can block the bile duct and lead to liver disease. Children with CF may also have sinus infections and other health problems.
How do you get CF?
People with CF inherited a defective CF gene from both of their parents. There are at least 2,000 different mutations of this gene. People with only 1 abnormal CF gene are called carriers but do not have the disease. About 1 in 28 Caucasians, 1 in 48 Hispanic Americans, and 1 in 79 African Americans are carriers. CF occurs in about 1 in 3,500 children in the US.
If a child’s mother and father are both CF carriers, the child has a
- 25% chance of having CF
- 50% of being a CF carrier
- 25% chance of having normal CF genes (neither being a carrier nor having CF)
What are the symptoms?
People with CF can have many symptoms:
- Salty-tasting skin
- Poor weight gain or growth
- Greasy, bulky, painful stools
- Repeated lung infections
- A cough that does not go away
- Shortness of breath or wheezing
- Male infertility
Problems with the liver and bowels, low iron, high blood sugar, weak bones, depression, and anxiety are also common. Symptoms can be different for each person and can start at different ages, but they usually begin when a baby is very young.
How is it diagnosed?
Newborn screening programs in the US test for CF. All abnormal newborn screens should be followed by sweat chloride testing to confirm the diagnosis, as well as a clinical evaluation at an accredited care center. See Accredited CF Care Centers (CF Foundation).
What is the expected outcome?
CF is a complex disease. The severity and symptoms differ for each person. The age at diagnosis and how well the care plan is followed can affect the progress of the disease.
Tremendous advancements in care and medications have helped add years to those living with CF and improve their quality of life. Today, the life expectancy is more than 56 years. But, more individuals with CF are living long enough to meet their dreams of going to college, getting married, having a family, and having a career.
Will anyone else in the family get CF?
Testing can be done to learn whether siblings of a child with CF carry the gene. Pre-natal testing can be performed during later pregnancies. Children born to the parents should be tested promptly after birth.
What is the treatment?
Children with CF should be cared for at a Cystic Fibrosis Center, which has medical providers with specialized training focused on caring for patients with CF. Children should also receive care from a primary care doctor who can work with the family and the CF Center.
Airway clearance treatments are used to help loosen the thick mucus that can build up in the lungs. Manual chest physical therapy is usually done until the child is old enough (often around the age of 1-2) to use a vibrating vest.
Inhaled medications or liquid medicines, inhaled as a mist, are used to open the airway and thin the mucus. Inhaled antibiotics are used to fight lung infections.
Pancreatic enzyme supplements, taken with each meal and most snacks, help replace what the pancreas would have supplied. People with CF mostly rely on a high-fat, high-calorie food plan to make up for the poor absorption of food and improve weight gain. Additional therapies, such as tube feedings and formulas, may be needed. People with CF often take multivitamins. A dietitian should be involved in treatment and check vitamin levels, growth, bone density, and diabetes risk.
About 10% of people with CF will get diabetes in their teenage years; this number grows through adulthood. People with CF-related diabetes may need to use insulin. Yearly testing for diabetes should start by about age 10.
It is vital that those living with CF keep up a healthy level of exercise to help with energy, lung function, and overall health.
Medications called “CFTR modulators” aim to correct the protein defect in CF. However, because different mutations cause different defects in the protein, only certain CFTR modulators work with certain mutations.
How will my family’s life be changed?
People with CF and their families become experts in knowing how the disease affects them. Families work with the CF Care Center and their primary care doctor to make a plan that fits the care and family’s needs. Sticking with daily treatments is very important for keeping lungs healthy and improving quality of life. Adjusting daily schedules to fit in all the care and medications can be hard. Building a good routine early and stressing the importance of keeping it up while a child is young will build life-long habits for self-care. The future of CF has never been brighter. Children with CF should participate in normal activities, set goals, and work to achieve their dreams. However, because children with CF can share dangerous germs with each other, contact with other children with CF should be avoided.
A diagnosis of CF for your child can feel scary, lonely, and frustrating for the whole family. Family support and counseling can be very helpful. Great resources and support groups are available locally and nationwide for those living with CF, as well as their families. The Cystic Fibrosis Foundation is a good place to start.
Article History
Previously, this article was published in the Medical Home Portal. The Medical Home Portal, retired in July 2024, provided diagnosis and management information for pediatric conditions, guidance for immediate steps after a positive newborn screen result, and in-depth family education to improve outcomes for children with complex medical care needs. The full archive can be found at the Medical Home Portal Archive.
Topical Reviews in Pediatrics (TRIP) includes archival and updated content from the Medical Home Portal and features new, contemporary topics in pediatrics.
- 2019 first edition: Medical Home Portal TeamA, Stacy AllenR, Jodi HansenR
AAuthor; CAContributing Author; SASenior Author; RReviewer
