Also known as:
- cystic fibrosis of the pancreas
- fibrocystic disease of the pancreas
Cystic fibrosis (CF) is an inherited disorder of the mucus glands. Mucus is a slippery substance your body secretes to cover and protect the lungs, digestive system, reproductive system, and other organs and tissues. CF causes the body to produce excess mucus that is abnormally thick and sticky, which can lead to a variety of health problems. If left untreated, CF can cause serious lifelong health problems that could lead to early death. However, if the condition is identified early and proper treatment is begun, many of the symptoms of CF can be controlled and children can live longer, healthier lives.
If your baby’s newborn screening result for cystic fibrosis (CF) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, a few babies do have the condition, so it is very important that you go to your follow-up appointment for a confirmatory test. Because early testing and treatment can lead to improved health, follow-up testing must be conducted as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve a “sweat test” to measure the amount of a certain substance in your child’s sweat. In the first part of the test, a chemical that causes sweating is put on a small area of skin (usually on the arm or leg). An electrode is then put over that spot to make the area sweat. This will not cause your baby any pain, although he or she may feel tingling or warmth in the area. In the second part of the test, the sweat will be collected on a piece of filter paper or gauze and sent to a hospital laboratory for evaluation.
If the sweat test is inconclusive, your baby’s doctor may order genetic testing for CF to further investigate the reason for the out-of-range screen result.
About Cystic fibrosis
Signs of cystic fibrosis (CF) usually start shortly after birth. Some signs may not appear right away. This is why identification through newborn screening is so important.
Early signs of CF include:
- Salty sweat; many parents notice a salty taste when kissing their child
- Poor growth and weight gain (failure to thrive)
- Constant coughing and wheezing
- Thick mucus or phlegm
- Greasy, smelly stools that are bulky and pale colored
If your baby shows any of these signs, be sure to contact your baby’s doctor immediately.
Dietary Treatments and Supplements
- A high-calorie diet – Some children with cystic fibrosis (CF) need more food for healthy growth and development.
- Pancreatic enzymes – Your baby may need to take pancreatic enzymes before eating to properly digest food. These enzymes can help your baby gain weight and grow at a healthy rate.
- Vitamin supplements – Your baby’s body may also have trouble getting vitamins from food. Your baby’s doctor may prescribe vitamin supplements to ensure proper nutrition.
Some children need special medications to treat the lung problems associated with CF. Your baby’s doctor may prescribe one or more of the following:
- Mucus-thinners – These drugs are usually inhaled, and they help make mucus thinner and easier to cough up.
- Bronchodilators – These inhaled drugs open up the airway to make breathing easier.
- Anti-inflammatories – These drugs can help reduce lung swelling.
- Antibiotics – Children with CF tend to have frequent lung infections, which may require treatment with antibiotics.
Airway Clearance Therapy (ACT)
Airway Clearance Therapies (ACT) are treatments that help people with CF loosen thick, sticky lung mucus so that it can be cleared by coughing. This will help your child stay healthy and breathe more easily. There are a number of ways to perform ACT. Your baby’s doctor will help you choose the most effective technique for your baby.
At this time, the goal of treatment for cystic fibrosis (CF) is to minimize the signs and symptoms of the condition. There is currently no cure available for CF. Although CF is a life-shortening condition, early identification and lifelong management allow many people with CF to live longer than ever before.
Over time, children with CF often have chronic coughing and wheezing, repeat lung infections which can lead to permanent lung damage, digestive problems, poor growth and weight gain, malnutrition, and infertility (most common in males).
Even with early identification, some adults with CF may develop severe lung damage, which can no longer be treated with medications. In this case, a doctor may recommend a lung transplant. Without treatment, children with CF are at risk of early death. This is why newborn screening for CF is so important.
In our bodies, particles called chloride ions help control the movement of water. This allows the different parts of our body to make an adequate supply of thin, freely flowing mucus. Mucus helps protect the body from dirt, bacteria, and viruses that can be inhaled.
Individuals with cystic fibrosis (CF) are unable to move chloride ions and water throughout their body. As a result, the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus is unable to protect the body. Therefore, mucus clogs the body's airways and glads and reduces its ability to fight infections.
CF is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for CF, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with CF is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.
Support for Cystic fibrosis
Support groups can help connect families who have a child or other family member affected with cystic fibrosis with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
The New England Genetics Collaborative created a website called "GEMSS: Genetics Education Materials for School Success." When your child reaches school age, you can provide teachers and school administration with this resource specifically for children with Cystic Fibrosis.
Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with physicians who treat the lungs, dieticians to help plan the specialized diets that some children with cystic fibrosis (CF) need, or other medical resources in your community.
Because CF is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for CF, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.
Brock was diagnosed with cystic fibrosis (CF) through newborn screening shortly after birth. With the help of support groups and through participating in a number of awareness activities, his parents are making the best of their family’s situation. Thanks to early detection and treatment, Brock is a happy and an active toddler. Read his story.
In this video, parents of children with CF talk about how they have navigated their lives with this condition. Some of the children profiled in this video were diagnosed early, while others were diagnosed later in life. The lessons of this video – finding hope, connecting with other families, focusing on the positive – can help all families affected by CF. Watch the video.
Camiah was diagnosed with CF shortly after birth. She has overcome many barriers to become an accomplished pianist and writer. Read her inspiring story.
Erik did not have the benefit of newborn screening for CF, however he began treatment shortly after being diagnosed at 10 months of age. Erik began swimming as a way to increase his lung capacity, and today he is a successful competitive swimmer. Read his story.
States Screening for Cystic fibrosis
|State||Screens for this condition?|
|District of Columbia||Yes|
|U.S. Virgin Islands||Yes|