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Cystic Fibrosis

Introduction

The Questions and Answers that follow aim to provide an introduction to cystic fibrosis (CF) for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with CF and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our Cystic Fibrosis module.

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease that causes cells to make mucus and digestive juices that are 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, 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 1700 different mutations of this gene. People with only one 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, bowels, low iron, high blood sugar, weak bones, and depression/anxiety are also common. Symptoms may vary in severity and age of onset but usually begin in infancy.

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)). See the Medical Home Portal's Cystic Fibrosis newborn screening page for details.

What is the expected outcome?

CF is a complex disease. The severity and symptoms differ for each person and many things such as age at diagnosis and following the care plan can affect a person’s health and the progress of the disease.
Tremendous advancements in care and medications have helped to add years to those living with CF and improve their quality of life. Today, the life expectancy is more than 37 years (see CFTR-Related Disorders (GeneReviews)). But, more than a number, 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 brothers and sisters of a child with CF carry the gene and pre-natal testing can be performed during later pregnancies. Children born to the parents should be tested promptly after birth. See the "How do you get CF?" section, above.

What is the treatment?

Children with CF should be cared for at a Cystic Fibrosis (CF) Center by providers with special training and who focus on caring for patients with CF. They 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 2) to use a vibrating vest.
Inhaled medications, or liquid medicines that are inhaled as a mist, are used to open the airway or thin the mucus. Inhaled antibiotics are used to fight lung infections.
Pancreatic enzyme supplements help replace what the pancreas would have supplied and are taken with each meal and most snacks. 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 also usually take multivitamins. A nutritionist should be involved in treatment, checking vitamin levels, growth, hormones, bones 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 will 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 and work with the CF Care Center and their primary care doctor to make a plan that fits the family's needs to approach their care. Sticking with daily treatments is very important in keeping lungs healthy and improving the quality of life. Adjusting daily schedules to fit in needed care and medications can be hard, but building a good routine early and stressing the importance of keeping it up while a child is young will build life-long habits to aid them with caring for their disease. The future of CF has never been brighter. Children with CF should take part in in normal activities and to 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 terminal diagnosis for your child can feel scary, lonely and frustrating for the whole family. Family support (see Cystic Fibrosis Foundation) and counseling as needed can be very helpful.
Also, great resources and support groups are available locally and nationwide for those living with CF as well as their families (see below). You are not alone.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Cystic Fibrosis Foundation
A nonprofit organization that offers extensive support services (local chapters) and information about testing, treatments, insurance options, pharmacy services, and much more.

Cystic Fibrosis (MedlinePlus)
An overview of the condition with links to other organizations providing more information; from the National Library of Medicine.

Cystic Fibrosis (Genetics Home Reference)
Detailed review of CF genetics aimed at patients and families; from the National Library of Medicine's Genetics Home Reference site.

What Is Cystic Fibrosis? (NHLBI, NIH)
Information about the causes, prevalence, signs and symptoms, diagnostic tests, and treatments for CF; National Heart Lung and Blood Institute and National Institutes of Health.

Cystic Fibrosis: Diet and Nutrition (KidsHealth.org)
Information for kids from a national site, sponsored by Nemours Foundation. Also provides pages for parents and teens (see tabs at the top of the page).

Patient Education

Patient Resources (CF Foundation & Boston Children's Hospital)
Fact sheets covering specific topics related to CF in the areas of nutrition, tests, medications, schools, insurance, and more.

Services in Rhode Island

Select services for a different state: ID, MT, NM, NV, UT

Cystic Fibrosis Clinics

See all Cystic Fibrosis Clinics services providers (1) in our database.

General Counseling Services

See all General Counseling Services services providers (33) in our database.

Local Support Groups, Disability/Diag

See all Local Support Groups, Disability/Diag services providers (12) in our database.

National Support Services, Disab/Diag

See all National Support Services, Disab/Diag services providers (99) in our database.

Newborn Screening Services

See all Newborn Screening Services services providers (2) in our database.

Nutrition Assessment Services

See all Nutrition Assessment Services services providers (3) in our database.

Pediatric Endocrinology

See all Pediatric Endocrinology services providers (14) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (19) in our database.

Pediatric Pulmonology

See all Pediatric Pulmonology services providers (10) in our database.

Social Workers

See all Social Workers services providers (10) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors & Reviewers

Initial publication: March 2014; last update/revision: July 2019
Current Authors and Reviewers:
Reviewers: Stacy Allen
Jodi Hansen