Cystic fibrosis is a disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas. People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, growth, and development. The disease generally gets worse over time.
The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.
Cystic fibrosis is one of the most common genetic disorders in white children in Canada. It's caused by a change, or mutation, in a gene. The changed gene is passed down in families. To pass on this disease, both parents must be carriers of the changed gene.
Cystic fibrosis is usually diagnosed at an early age. Although the symptoms are not the same for everyone, some common symptoms of a baby who has cystic fibrosis include:
Other symptoms may also develop in childhood such as:
Most people who have cystic fibrosis have signs of it when they are children. In Canada, some provinces routinely screen newborn babies for cystic fibrosis. Screening tests look for a certain health problem before any symptoms appear.
If your child has a positive newborn screening test or symptoms of cystic fibrosis, your doctor will order a sweat test to see how much salt is in your child's sweat. People with cystic fibrosis have sweat that is much saltier than normal. The doctor may also suggest a genetic test. Finding a high amount of salt in two sweat tests or finding certain changed genes will confirm a diagnosis.
Experts have not yet found a cure for cystic fibrosis, but new and improved treatments help people who have cystic fibrosis live longer. The types of treatment your child receives depends on what kinds of health problems the cystic fibrosis is causing and how your child's body responds to different types of treatment. Most people combine medicines, home treatment methods (including respiratory and nutritional therapies), and other specialized care to manage the disease.
Frequently Asked Questions
Learning about cystic fibrosis:
Living with cystic fibrosis:
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Cystic fibrosis occurs when a child inherits a changed (mutated) cystic fibrosis transmembrane gene from both parents. The gene codes for a protein called the cystic fibrosis transmembrane regulator (CFTR). The changed gene causes problems with the way salt and water move in and out of the cells that make mucus, causing the mucus to be thick and sticky. This kind of mucus makes it hard for the body to keep organs and lungs clean and healthy.
If a child inherits the changed CFTR gene from only one parent, the child will not have cystic fibrosis but may be a carrier. This means the child could pass the changed gene on to his or her children.
Many people do not know they have the changed gene. If you are the parent of a child who has cystic fibrosis, it is important to remember that nothing you did caused the disease.
Symptoms of cystic fibrosis are usually caused by the production of thick, sticky mucus. Symptoms vary from person to person and are not always obvious in childhood.
Symptoms of cystic fibrosis in a baby or young child may include:
Over time, symptoms may get worse and result in:
Additional symptoms may develop during late childhood or early adulthood, including:
Although cystic fibrosis generally follows certain patterns, each person's symptoms depend on what is happening with his or her mucus-producing cells. These kinds of cells are found throughout the body in many different organs and systems, including the:
Regular medical care, home treatment such as postural drainage, and attempts to reduce infection can help people with cystic fibrosis lead relatively normal lives. If symptoms of cystic fibrosis get worse, treatment in a hospital may be needed. Lung transplant surgery may be an option for people who have very severe lung disease.
The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer. People who have a mild form of cystic fibrosis may have a normal life expectancy.
There is no cure for cystic fibrosis. But experts are hopeful that the discovery of the cystic fibrosis gene defect may soon lead to a cure.
Cystic fibrosis is a genetic disorder. Specifically, cystic fibrosis is an autosomal recessive disease. This means that to get the disease, you must inherit the changed (mutated) gene from both parents. Keep in mind:
It is important to diagnose and treat cystic fibrosis early. Call your doctor if your child:
Call your doctor if your child who has been diagnosed with cystic fibrosis gets worse in any way. Typically, this is when your child:
Watchful waiting is a period of time during which you and your doctor observe your child's symptoms without using medical treatment. Watchful waiting is not a good idea for people who have cystic fibrosis. If your child has any signs of cystic fibrosis, even if they seem to be mild, see the doctor right away.
Other health professionals may also be involved in your child's care:
Cystic fibrosis multidisciplinary specialist centres offer the best, most comprehensive treatment available by addressing the medical, nutritional, and emotional needs of people who have cystic fibrosis. You can locate one by contacting the Cystic Fibrosis Canada at www.cysticfibrosis.ca.
To prepare for your appointment, see the topic Making the Most of Your Appointment.
Tests to diagnose cystic fibrosis can be done at any time—before pregnancy, during pregnancy, in childhood, or in adulthood. Genetic tests for couples who are planning a pregnancy or who are expecting a baby can help determine whether either person is a carrier of the changed (mutated) gene that causes cystic fibrosis. Babies can be screened for cystic fibrosis shortly after they are born, especially if they have symptoms or are at risk of inheriting the changed gene. Most people who have cystic fibrosis have signs of it when they are children.
A medical history and a physical examination are often the first steps in diagnosing cystic fibrosis, followed by screening or lab tests.
The diagnosis of cystic fibrosis requires one of the following:
Also, there must be at least one of the following:
Certain tests can help your doctor monitor your child's cystic fibrosis. These tests include:
Both newborns and adults can be tested for the changed (mutated) gene that causes cystic fibrosis. These tests include:
If you are interested in a genetic test for cystic fibrosis, talk with your doctor about the test. Genetic counselling can help you to understand your test results.
Most people are diagnosed with cystic fibrosis before they are 1 year old. After a child is diagnosed, a team of health professionals will build a treatment plan based on the child's specific health problems. Treatment is different for everyone but usually involves a combination of medicines and home treatment. Home treatments include getting rid of mucus, eating healthy foods, and exercising to help prevent infections and complications. It can be challenging to follow a treatment plan, but doing so will help your child live a longer, healthier life.
The best treatment available is generally found at cystic fibrosis multidisciplinary specialist centres. These centres address the medical, nutritional, and emotional needs of people who have cystic fibrosis. You can locate one by contacting the Cystic Fibrosis Canada at www.cysticfibrosis.ca.
Many people with cystic fibrosis and their families need emotional support to help them live with this life-shortening genetic disease. Support groups, counselling, and educating yourself about the disease can be very helpful.
Usually, cystic fibrosis causes problems with both the respiratory and digestive systems, although sometimes it causes problems only in one or the other. Other parts of the body may also be affected. Lab tests can help your doctor know how serious the disease is and how it is affecting your child's body.
Your doctor will ask you about your child's immunizations and will schedule any shots that are needed. Children with cystic fibrosis should have all the recommended shots in addition to pneumococcal shots. For more information, see the topic Immunizations.
Your doctor will want to make sure that your child is eating properly and is gaining weight and growing at a normal rate. He or she will record your child's weight, height, and head size in order to keep track of how your child is developing over time.
Your doctor may also talk to you about different therapies used to treat cystic fibrosis. These include:
Respiratory therapy. Respiratory therapy refers to any treatment that slows down lung damage and improves breathing. The focus of this therapy is on reducing infection and getting rid of mucus to keep the lungs healthy. Medicines used in respiratory therapy include:
Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques. These include:
Digestive therapy. This therapy works to replace certain digestive enzymes, to make sure the body absorbs all the vitamins and minerals it needs, and to prevent or treat intestinal blockages. Digestive therapy involves:
Antibiotics. These medicines, which kill bacteria that cause infections, are often used to treat cystic fibrosis. Some antibiotics may be prescribed to help prevent infections. Others may be prescribed to help fight infections.
Most ongoing treatment for cystic fibrosis focuses on controlling and reducing problems or complications in the respiratory and digestive systems.
Your child is likely to continue with respiratory therapy, digestive therapy, and antibiotics.
People with severe lung disease may need to use oxygen at home. Regular visits with the team of health professionals involved in your child's care are also important.
Doctors may do certain tests to help find out what kinds of problems your child is having. These tests may include:
As children with cystic fibrosis get older, it is important for them to learn how to help care for themselves. Even though it can be hard to follow a treatment plan every day, there are many benefits of home treatments. Skipping a treatment may not make a person feel worse right away, but his or her chances of having more serious problems later increase.
Serious cystic fibrosis problems or complications occur when the respiratory system or digestive system becomes damaged. Bronchiectasis, which is caused by long-lasting airway inflammation, is common. Most people who have complications will need to stay in the hospital. Treatment for complications may include medicines or surgery, depending on the person's age and symptoms.
Some of the tests that help the doctor know what kinds of problems your child is having include:
If complications develop, one or more of the following medicines may be needed:
Sometimes surgery is needed to treat complications of cystic fibrosis. Procedures may include:
Other treatments used to treat complications from cystic fibrosis may include:
As your condition gets worse, you may want to think about hospice palliative care. Hospice palliative care is a kind of care for people who have illnesses that do not go away and often get worse over time. It is different from care to cure your illness, called curative treatment. Hospice palliative care focuses on improving your quality of life—not just in your body, but also in your mind and spirit. Hospice palliative care can be combined with curative care.
Hospice palliative care may help you manage symptoms or side effects from treatment. It could also help you cope with your feelings about living with a long-term illness, make future plans around your medical care, or help your family better understand your illness and how to support you.
If you are interested in hospice palliative care, talk to your doctor. He or she may be able to manage your care or refer you to a doctor who specializes in this type of care.
For more information, see the topic Hospice Palliative Care.
It is important to talk about the kind of medical procedures you want or do not want for yourself or for your child.
If your newborn has been diagnosed with cystic fibrosis, avoid placing him or her in daycare for at least 6 months to 1 year, if possible. Care for your baby at home.
Handling the challenges of caring for a child who has cystic fibrosis can be difficult. It is normal to feel overwhelmed by how hard it is and how much time it takes to care for a child who has a long-term, life-shortening illness. Counselling or support groups can help you deal with your feelings, as can educating yourself about the disease. Take good care of yourself, physically and emotionally, so that you can give your child with cystic fibrosis the best care possible.
Home treatment is a very important part of treating cystic fibrosis. Home treatment can make a person with cystic fibrosis feel better and live longer. If a treatment is skipped, the child may not feel any worse right away, but he or she has an increased chance of having more serious problems later. Even though it can be challenging to follow a home treatment plan every day, there are many benefits of home treatment. Specifically, home treatment can help:
Airway clearance techniques
Health professionals, parents, siblings, or other caregivers can perform airway clearance techniques on a child who has cystic fibrosis. Teens and adults with cystic fibrosis can learn to do these techniques themselves.
Improving nutrition and energy
Medicines for cystic fibrosis include:
Medicine to treat infections
Medicines to open breathing tubes in the lungs or keep them open
Medicines to control the amount and thickness of mucus
Medicines to reduce inflammation
Medicines to replace the effect of digestive enzymes
A small number of people who have cystic fibrosis have a certain changed (mutated) gene called the G551D mutation. If you have this changed gene, the medicine ivacaftor (Kalydeco) can target the genetic cause of your lung problems and may help improve lung function. Talk to your doctor if you want more information about it.
Some medicines work better for some people than for others. A medicine that works well for one person may not work for someone else. It can take time to find the medicines that work best for you or your child.
Surgery may be needed to treat complications of cystic fibrosis. Procedures may include:
If your child is not able to get all the nutrients he or she needs from food, a feeding tube may be needed.
Lung transplant surgery is generally recommended only for people who have severe lung damage, because the risks can be greater than the benefits. Not everyone is a good candidate for an organ transplant. If tests show you are a good candidate, you are put on a waiting list. You may have to wait days, months, or years for your transplant. Be patient, and ask your doctor what you can do while you're waiting.
For more information on transplants, see the topic Organ Transplant.
Recent research has focused on treating the cause as well as the symptoms of cystic fibrosis. Medical researchers are currently looking at gene transfer therapy, which tries to correct the result of the gene defect that causes cystic fibrosis. Gene transfer therapy involves introducing healthy genes into the lung cells of people who have cystic fibrosis.
Researchers are also investigating protein repair therapy, or protein assist therapy. This therapy involves taking medicines that help the defective protein work more normally to allow a small amount of salt and water to move out of cells.
Gene transfer and protein repair therapies are in the experimental, developmental stages; and clinical trials are being conducted. For more information, see the Other Places to Get Help section of this topic for organizations to contact.
|Canadian Cystic Fibrosis Foundation|
|2221 Yonge Street|
|Toronto, ON M4S 2B4|
1-800-378-2233 (toll-free from Canada only)
|Web Address:||www.cysticfibrosis.ca or www.ccff.ca|
|Canadian Lung Association|
|1750 Courtwood Crescent Street|
|Ottawa, ON K2C 2B5|
The Canadian Lung Association focuses on research, education, and the promotion of respiratory health. The organization offers educational information on a variety of diseases and environmental threats, as well as information on research, support groups, and resources for children and teachers. Call to find a local office in your area.
|KidsHealth for Parents, Children, and Teens|
|Nemours Home Office|
|10140 Centurion Parkway|
|Jacksonville, FL 32256|
This website is sponsored by the Nemours Foundation. It has a wide range of information about children's health—from allergies and diseases to normal growth and development (birth to adolescence). This website offers separate areas for kids, teens, and parents, each providing age-appropriate information that the child or parent can understand. You can sign up to get weekly emails about your area of interest.
- Elkins MR, et al. (2006). A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. New England Journal of Medicine, 354(3): 229–240.
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Other Works Consulted
- ACOG Committee on Genetics (2002, reaffirmed 2006). Genetics and molecular testing. ACOG Technology Assessment in Obstetrics and Gynecology, 100(1): 193–211.
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- Balfour-Lynn IM, Welch K (2009). Inhaled corticosteroids for cystic fibrosis. Cochrane Database of Systematic Reviews (1).
- Borowitz D, et al. (2009). Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. Journal of Pediatrics, 155(6): S73–S93.
- Boucher RC, et al. (2010). Cystic fibrosis. In R Mason et al., eds., Murray and Nadel's Textbook of Respiratory Medicine, 5th ed., vol. 1, pp. 985–1022. Philadelphia: Saunders.
- Dovey ME (2006). Cystic fibrosis. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 457–461. Philadelphia: Saunders Elsevier.
- Farrell PM, et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Journal of Pediatrics, 153(2): S4–S14.
- Federico MJ, et al. (2011). Bronchiectasis section of Respiratory tract and mediastinum. In WW Hay Jr et al., eds., Current Diagnosis and Treatment: Pediatrics, 20th ed., pp. 503–504. New York: McGraw-Hill.
- Flume PA, et al. (2009). Cystic fibrosis pulmonary guidelines: Airway clearance therapies. Respiratory Care, 54(4): 522–537.
- Flume PA, et al. (2009). Cystic fibrosis pulmonary guidelines: Treatment of pulmonary exacerbations. American Journal of Respiratory and Critical Care Medicine, 180(9): 802–808.
- Grosse SD, et al. (2004). Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR, 53(RR-13): 1–36.
- Jones AP, Wallis C (2010). Dornase alfa for cystic fibrosis. Cochrane Database of Systematic Reviews (3).
- Nash EF, et al. (2009). Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis. Cochrane Database of Systematic Reviews (1).
- Organ Procurement and Transplantation Network (2010). Organ distribution: Allocation of thoracic organs, Policy 3.7, pp. 1–31. Available online: http://optn.transplant.hrsa.gov/policiesAndBylaws/policies.asp.
- Philpott J, et al. (2010). Physical activity recommendations for children with specific chronic health conditions: Juvenile idiopathic arthritis, hemophilia, asthma and cystic fibrosis. Paediatrics and Child Health, 15(4): 213–218. Also available online: http://www.cps.ca/english/statements/HAL/HAL10-01.htm.
- Southern KW, et al. (2009). Newborn screening for cystic fibrosis. Cochrane Database of Systematic Reviews (1).
|Primary Medical Reviewer||John Pope, MD - Pediatrics|
|Specialist Medical Reviewer||Susanna McColley, MD - Pediatric Pulmonology|
|Last Revised||August 12, 2011|
Last Revised: August 12, 2011
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