Cystic fibrosis (CF) is a lifelong genetic condition. Children with CF carry a damaged gene that causes their bodies to make abnormally thick and sticky mucus. This mucus clogs airways and damages the lungs. The mucus also builds up in the digestive system and pancreas. Children with CF may experience serious lung infections and issues with nutrition and growth.
The symptoms of cystic fibrosis vary with each patient. Patients with CF may experience some or all of the following:
- Persistent coughing, at times with mucus or phlegm
- Poor nutrition
- Recurrent respiratory infections, including pneumonia
- Short stature
- Upset stomach
- Wheezing or shortness of breath
Cystic fibrosis occurs in about 1 in every 3,500 live births. About 1,000 new cases of CF are diagnosed each year in the U.S. A child with the condition inherits two copies of the CF gene; one from each parent.
When both parents carry the gene for CF, each pregnancy has a 25 percent chance the child will have CF, a 50 percent chance the child will be a carrier of the gene for CF but not have the condition and a 25 percent chance the child will not have CF and will not be a carrier of the CF gene.
About 10 million Americans carry the CF gene but do not have the condition.
Living with CF means following an aggressive care plan to manage symptoms so that children stay healthy and active.
Diagnosis of Cystic Fibrosis
Many children are diagnosed with cystic fibrosis as infants during a newborn screening, which is completed within the first 48 hours of life in Indiana.
If your older child shows symptoms of CF, a pediatric gastroenterologist or pulmonologist at Riley at IU Health can perform the following exams and tests to make a diagnosis:
- Sweat test. The sweat test is the gold standard for diagnosing CF. It is performed at a special lab. This is a skin test that measures the amount of chloride (one of the body’s natural salts) in a collection of sweat. The test starts by applying a chemical called pilocarpine to the skin followed by a small electrical current that stimulates the sweat glands. The sweat is collected and measured. Children with cystic fibrosis have high levels of chloride in their sweat. This test takes about an hour to complete. Test results are usually available the same day. The Cystic Fibrosis Foundation provides a video about sweat tests.
- Genetic testing. A blood sample can be used to check for the exact genes involved in CF. This test is used when the sweat test does not give an accurate result or when more specific information is needed after a CF diagnosis is made. Genetic testing is expensive and may not diagnose all CF patients. There are many gene mutations that can cause CF, and there is no way to check for all of them with one test.
- Nasal potential difference. In complicated cases, a nasal potential difference test is used to confirm a CF diagnosis. This test checks how well salts move across the mucus membranes in the nose. The study uses electrodes and different sodium solutions that are introduced into the nasal passageways. The nasal potential difference test takes about an hour to complete and is only used with children who are at least 10 years old.
Treatment for cystic fibrosis includes:
- Nutrition care. Good nutritional status is strongly associated with good respiratory status. The goal for all CF patients is to be well-nourished and at an appropriate weight for their height. Your child can achieve a well-nourished state by:
- Eating a high-calorie diet
- Routinely taking vitamins/minerals
- Routinely taking pancreatic enzyme replacement medicines
- Drinking nutrition supplements
- Supplementing with tube feedings
- Medicines. Children with cystic fibrosis need different medicines to keep them healthy. These include:
- Enzymes. Pancreatic enzymes are lacking in most children with CF, so these are taken to help absorb protein, carbohydrates and fat from food. The amount prescribed is based on your child's weight, and the dose will be adjusted often as your child grows. Generic enzymes should not be used for children with CF. Brand name enzymes include Creon, Pancreaze, Zenpep, Pertzye, Ultresa and Viokace.
- Vitamins. Certain vitamins are poorly absorbed in children with CF. Extra vitamins are needed to keep children healthy. Vitamins prescribed to children with CF include AquaADEKs, Vitamax, MVW Complete Formulation, Libertas ABDEK and ChoiceFul.
- Reflux Medicines. These medicines are needed to treat stomach reflux when it occurs. They are also prescribed to some children to help enzymes work better. Reflux medicines include Zantac (ranitidine), Pepcid (famotidine), Prevacid (lansoprazole), Prilosec (omeprazole), Protonix (pantoprazole) and Nexium (esomeprazole).
- Laxatives. Laxatives are used to ease constipation. Types of laxatives include MiraLAX, docusate, senna and lactulose.
- Actigall/Ursodiol. This medicine treats cystic fibrosis liver disease.
- Medicines for the lungs. Inhaled or nebulized medications to maintain lung health include:
- Pulmozyme. Pulmozyme is a preventive medication that helps break down mucus in the lungs making it easier to cough out.
- Bronchodilators (Albuterol/Xopenex). Bronchodilators help open the airways to improve clearance of mucus.
- Hypertonic saline. This is a strong salt solution that helps restore a normal environment in the lungs, makes the mucus more slick and easier to clear from the lungs and encourages a healthy cough.
- Inhaled antibiotics. Antibiotics are chosen based on which bacteria are found on respiratory cultures, the symptoms during an illness, any allergies and a child's previous response to antibiotics. These medicines keep certain bacteria (pseudomonas) from growing in the lungs. Examples include TOBI (nebulized solution and TOBI Podhaler), Cayston and Colistin.
- Steroids. Steroids are used less often in children who have asthma-like symptoms in addition to CF. They can be given for a short time by mouth or can be taken long term in an inhaled or nebulized form.
- Oral antibiotics for respiratory illnesses. These medicines are used to treat bacteria in the lungs or sinuses that can cause infection. Common antibiotics used in CF are Augmentin, Omnicef, Bactrim, Ciprofloxacin and Linezolid.
- CF modulator. Ivacaftor (Kalydeco) is a medicine taken by mouth that is approved for a small number of patients with CF. This medicine helps open the chloride channel that is broken in CF and leads to increased lung function and weight gain. The medication is taken with the other CF medicines and does not replace the other therapies. Patients who qualify for this treatment are older than 6 years old and have one of the following CF mutations: G551D, G178R, S549R, S549N, G551S, G1244E, S1251N, S1255P, G1349D or R117H.
The Cystic Fibrosis Foundation recommends that children with CF complete at least four clinical visits each year. Each patient’s visit will be different based on his or her specific needs. Children and their families can expect the following during regular appointments:
- Measurement. Your child’s weight and height will be measured and recorded without shoes.
- Body mass index (BMI). The Cystic Fibrosis Foundation recommends a BMI (weight in relation to height) in the 50th percentile for all cystic fibrosis patients. New studies show that children with CF who are well-nourished have better lung function. A dietitian will calculate your child’s BMI and share it with the pulmonologist. Growth charts, body mass index percentiles and weight goals will be established at your child's annual screening. If there is a concern about weight, you and your child's doctor will discuss treatment options to improve nutritional status.
- Pulmonary function testing. Pulmonary function tests check how well the lungs are working. Spirometry is the most common test to check how well the lungs function. As part of pulmonary function testing, the doctor may also perform an oximeter reading. A pulse oximeter reading checks the level of oxygen in the blood. The reading is done by placing a pulse oximeter device on your child's finger. This test is painless.
- Airway clearance therapies (ACT). Airway clearance loosens mucus so it can be cleared by coughing or huffing. It moves mucus from small to central airways to be coughed or huffed out. The goal of ACT is to prevent and reduce lung infection and to improve and maintain lung function. When air gets behind mucus and airflow is increased, mucus is pulled along. The results are reduced lung infection and improved lung function. Types of airway clearance therapies include:
- Coughing. This is the most basic airway clearance technique. It clears mucus with high-speed airflow. Huff coughing can be less tiresome and may work better. Huff coughing is a gentle way of coughing that speeds airflow while keeping the throat open.
- Mucociliary clearance. Normally, mucus protects the airway from inhaled irritants. The mucus lies on the airway like a blanket of jelly. Hairs called cilia line the airway and sweep the mucus upward so that it can be coughed out.
- Laboratory work. Your child's doctor may perform several tests to monitor overall health and body functions. Types of lab tests that may be performed include blood tests, urinalysis, sputum or respiratory culture (expectorate or throat swab), stool tests and fecal elastase to assess pancreatic function.
- Radiology tests. Imaging of your child's lungs and bone density help monitor his or her condition. Your child may undergo tests such as a chest X-ray and a DEXA scan.
At each appointment, you and your child will meet with the following medical professionals to discuss and review your child's healthcare plan:
- Doctor. The doctor will perform medical exams and review the body's systems. He or she will also provide prescriptions for any new or continued treatment plans.
- Nurse. The nurse will:
- Review medicines
- Look at your child's health history
- Perform a throat culture and explain why it is important
- Explain or review your child's care plan
- Give flu shots
- Dietitian. The dietitian will review weight, BMI status, eating practices, pancreatic enzymes, vitamins and stool/gastrointestinal history and make recommendations for improving or maintaining nutritional status.
- Pulmonologist. A pulmonologist will work with you and your child to monitor the results of pulmonary function tests over time and ensure that proper respiratory therapy for airway clearance is being followed.
- Respiratory therapist. A respiratory therapist will review respiratory treatments and medicines, review order of therapy, make recommendations for improving and maintaining respiratory status and review how to clean and maintain nebulizers and equipment.
- Social worker. Social workers provide assistance with insurance, financial concerns and personal concerns related to CF.
- Pharmacist. Treatment for CF involves many medicines. Pharmacists will help review and educate you about your child's medications.
- Research specialists. You and your child may be interested in research studies or clinical trials that may benefit your child's health. Research specialists coordinate these studies and trials.
More than 25 years of research has given the cystic fibrosis specialists at Riley at IU Health a better understanding of germs in CF, how germs are spread and the relationship between germs and lung health in CF.
Germs in CF can spread several ways, including:
- Direct contact with infected secretions. Direct contact with infected secretions happens when a person comes into contact with an infected person through kissing, touching, patient care or shaking hands.
- Indirect contact with infected secretions. Indirect contact with infected secretions happens when a person comes into contact with an infected object like an eating utensil, a drinking glass, respiratory equipment or a toy.
- Droplets of infected secretions. Droplets have the ability to travel distances of 6 feet, and germs within droplets can live for hours on surfaces.
The following guidelines help control infection:
- Perform respiratory cultures on a regular basis to watch for the presence of germs
- Promote the Six Foot Rule; keep a 6-foot distance from others with CF to minimize sharing of secretions
- Know your and your child’s culture results
- Bring your own books and/or toys to doctor appointments
- Get your and your child’s flu vaccine every year
- Pay attention to hand hygiene (cleaning hands) and always carry alcohol-based hand sanitizers and tissues
All staff at the Cystic Fibrosis Program at Riley at IU Health wear gowns and gloves. This is to protect you and your child from indirect contact with secretions. Patient rooms are cleaned between each patient, including all chairs, tables and desks. Patients must wear masks upon entering healthcare settings to comply with infection control recommendations.
Key Points to Remember
Key Points to Remember
- Cystic fibrosis is a lifelong genetic condition.
- All newborns are screened for cystic fibrosis in Indiana.
- Some children are diagnosed with cystic fibrosis after infancy.
- Treatments for cystic fibrosis focus on lung and digestive health and proper nutrition.
- Many medicines are available to help treat cystic fibrosis.
Support Services & Resources
Support Services & Resources
Visit the links below to find support groups and services and learn more about cystic fibrosis.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This foundation researches and develops new medicines to fight cystic fibrosis and improve the quality of life for those with CF. Call the Indiana Chapter at 317.202.9210.
The Cystic Fibrosis Foundation provides this useful resource about treatments and therapies, including airway clearance techniques and chronic medicines to maintain lung health.
The CYACC at Riley at IU Health provides transition consultation, education and care coordination across all diagnoses. The team works with children and their families to create a portable medical summary and transition plan.
This is a nonprofit organization that helps patients with cystic fibrosis afford the medicines and devices they need. Many medicine manufacturers also offer patient assistance programs to help people without insurance afford their medicines. Each program has different standards for the eligibility, enrollment and approval processes. In most cases, a doctor or caregiver must start the enrollment process.
CF Living is an educational program designed to offer information and support for those living with or caring for someone with cystic fibrosis.
Other Helpful Information
Helpful Information About Living With CF
- Influenza. The Cystic Fibrosis Foundation shares information on how to stay healthy during flu season.
- What To Do When Your Child is Sick (Riley at IU Health). This guide from the cystic fibrosis team at Riley at IU Health provides guidance for parents or guardians when their child is sick.
- What You Should Know About Germs. This PDF from the Cystic Fibrosis Foundation offers education about avoiding germs.
- Eight Ways to Guard Against Germs in Everyday Life. The Cystic Fibrosis Foundation discusses how to stop the spread of germs.
Airway Clearance Technique Information
- How to Use Your Acapella (Riley at IU Health). This guide explains how to use an Acapella device, including how to clean it.
- Infant Chest Physical Therapy (CPT) – Modified (Riley at IU Health).This guide explains infant chest physical therapy and provides tips for percussion.
- Flutter (Riley at IU Health). Flutter is a type of oscillating positive expiratory pressure (PEP) device that helps loosen mucus for clearance by coughing or huffing. This guide explains how to use a Flutter device.
- Hypertonic Saline (Riley at IU Health). Find answers to common questions about hypertonic saline treatment.
- The Vest. Learn more about The Vest™ Airway Clearance System.
- RespirTech. Learn more about inCourage® Airway Clearance Therapy.
- SmartVest. Learn more about the SmartVest® Airway Clearance System.
Nutrition Care Information
The following PDFs from the Cystic Fibrosis Foundation provide useful information about cystic fibrosis and nutrition based on your child's age:
- Birth to 1 Year
- Birth to 1 Year - Spanish Version
- One to Three Years
- One to Three Years - Spanish Version
- Four to Seven Years
- Four to Seven Years - Spanish Version
- For Teens With Cystic Fibrosis
- For Teens With Cystic Fibrosis - Spanish Version
- Cystic Fibrosis: Changes Through Life
- Cystic Fibrosis: Changes Through Life - Spanish Version
How to Increase Calories
- High Calorie Snack Ideas (Riley at IU Health). Find simple 100-, 200-, 300- and 400-calorie snack ideas for your child in this guide.
- Adding Calories to Foods (Riley at IU Health). This guide shows you simple ways to add calories to your child's favorite foods.
- Basic Guide to Increasing Calories and Maximizing Weight Gain Potential (Riley at IU Health). This guide shares easy-to-follow tips that will help your child get enough calories every day and maximize his or her weight gain potential.
- BIPPICOW Diet (Riley at IU Health). "BIPPICOW" is an acronym that will help you and your child remember the high calorie foods to include in his or her regular diet.
- This Eating Stuff is Hard Work! This cystic fibrosis recipe book was published by the CF Family Advisory Council.
Calorie and Protein Content of Foods
- U.S. Department of Agriculture. Find nutrient information on over 8,000 foods through this nutrient database.
Picky Eaters and Problem-Eating Behaviors
- Healthy Eating. This information from the Cystic Fibrosis Foundation explains how parents and caregivers can encourage healthy eating in children with CF.
Pancreatic Enzyme Replacement
- Pancreatic Enzyme Replacement. Learn more about pancreatic enzyme replacement in people with CF by reading this handout from the Cystic Fibrosis Foundation.
- Supporting Nutrition: Understanding Tubefeeding. This is a useful guide about tube feeding provided by the Cystic Fibrosis Foundation.
- Vitamins and Cystic Fibrosis. This guide provides important information about fat-soluble and water-soluble vitamins.
Cystic Fibrosis-Related Diabetes
- Cystic Fibrosis-Related Diabetes. The Cystic Fibrosis Foundation provides information about cystic-fibrosis related diabetes.
- Bone Health and Cystic Fibrosis. Learn more about bone health and cystic fibrosis by reading this guide from the Cystic Fibrosis Foundation.
Cystic Fibrosis Research
Cystic Fibrosis Research
The pediatric gastroenterologists and pulmonologists at Riley at IU Health participate in research on the treatment of cystic fibrosis. Speak with your child's doctor if you would like to know more about our clinical research studies.