Living with Cystic Fibrosis

Cystic fibrosis (CF) is a progressive, genetic condition affecting more than 100,000 people worldwide.1 There are over 4,300 people living with CF in Canada.2

What is Cystic Fibrosis

Cystic fibrosis is caused by a genetic mutation. People with CF experience a build-up of thick sticky mucus that causes problems in the lungs, digestive system and other parts of the body. In the lungs, mucus build-up causes severe respiratory problems. Mucus can also build up in the digestive tract, making it difficult to digest and absorb nutrients from food.

There’s no cure for cystic fibrosis – but treatments and medications can help people with CF live longer, healthier lives.

What causes Cystic Fibrosis?

Cystic fibrosis is a hereditary disease caused by a mutation (or error) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Cystic fibrosis is inherited in an autosomal recessive pattern. This means a baby will only be born with cystic fibrosis if they inherit two defective CFTR genes – one from each parent. Cystic fibrosis isn’t contagious, and you can’t develop it.

If both your parents carry the defective CFTR gene, there’s a 25% (1-in-4) chance that you’ll be born with cystic fibrosis. Males and females are equally as likely to have CF. The condition affects all ethnic backgrounds although it is more common in Caucasians.3

Someone with one normal CFTR gene and one faulty CFTR gene is known as a cystic fibrosis carrier. Carriers do not have cystic fibrosis and don’t exhibit any of the symptoms of the disease. CF carriers can pass their copy of the defective CFTR gene on to their children. Genetic testing can tell if you have the faulty CFTR gene.

diagram showing recessive inheritance of genes for cystic fibrosis

Effects of the CFTR Gene

The CFTR gene causes the CFTR protein to become dysfunctional.

The CFTR protein is in every organ of the body that makes mucus including your lungs, pancreas, liver and intestines, as well as your sweat glands.

The CFTR protein acts as a chloride channel – it helps maintain the balance of chloride (a component of salt) and water on the cell’s surface.

When the CFTR protein is not working properly, it’s unable to help move chloride to the cell’s surface. Without chloride to attract water, your mucus becomes thick and sticky and can build up – leading to blockages, damage and infections.

diagram showing comparison of normal airway versus airway with cystic fibrosis

Symptoms and Complications

Cystic Fibrosis Symptoms

Cystic fibrosis is a multi-system progressive condition, so people with this condition can experience a variety of symptoms. Symptoms usually develop within the first year of life but may not appear until your teenage years or adulthood. Cystic fibrosis signs and symptoms can vary with age, with disease severity and with the disease-causing mutations you have.

People with cystic fibrosis may have salty-tasting sweat caused by a higher than normal level of salt.6

In your lungs, thick and sticky mucus can clog your airways and trap bacteria. This causes respiratory symptoms such as:6

  • Persistent (chronic) cough with thick mucus
  • Wheezing and shortness of breath (breathlessness)
  • Frequent lung infections which may include pneumonia
  • Inflamed nasal passages or a stuffy nose
  • Recurrent sinus infections (known as sinusitis)

The pancreas is an organ that makes enzymes that help digest your food. Thick, sticky mucus can block the tubes that carry digestive enzymes from your pancreas to your small intestine and cause digestive symptoms such as:6

  • Foul-smelling, greasy stools
  • Poor weight gain and poor growth
  • Meconium ileus – an intestinal (bowel) blockage in a newborn baby
  • Chronic or severe constipation

Atypical cystic fibrosis is a milder form of the disorder. Instead of having classic symptoms, you might only have mild dysfuntion in one organ system and you may have normal sweat chloride levels. Symptoms can fluctuate over time and may not begin until adolescence or adulthood.7

Cystic Fibrosis Life Expectancy

diagram showing life span of canadians living with cystic fibrosis

Cystic Fibrosis Complications

Complications of cystic fibrosis will depend on the affected organs and the severity of the disease.

Possible complications are:

  • Cystic fibrosis bronchiectasis (CF bronchiectasis) is a chronic lung condition with abnormal widening and scarring of the bronchial tubes that is caused by cystic fibrosis6
  • Chronic infections in the lungs and sinuses can cause sinus infections, bronchitis (inflammation of the lining of your bronchial tubes) or pneumonia6
    • Pseudomonas aeruginosa bacteria is a major cause of lung infections in people with cystic fibrosis.8 It’s thought that people get Pseudomonas aeruginosa infections from the environment and from other people who are infected with the bacteria (called cross-infection).8 Typically, Pseudomonas aeruginosa doesn’t infect healthy people. However in CF, cross-infection poses a particular threat. To minimize risk of cross-infection people with cystic fibrosis aren’t encouraged to socialize with each other. Guidelines9 recommend maintaining a distance of at least 6 feet (2 metres) apart
    • Mycobacterium abscessus (M. abscessus) is the most common strain of non-tuberculous mycobacteria (NTM), a family of common organisms found in water and soil that can cause lung infections in people with cystic fibrosis10
    • Other bugs that can be passed on through cross-infection are Burkholderia cepacia complex (B cepacia) and the fungus Aspergillus fumigatus10
  • Acute exacerbations (or flare ups) when respiratory symptoms become worse6
  • Respiratory failure6
  • Cystic fibrosis-related diabetes (CFRD) is a unique type of diabetes found in people with CF6
  • Liver disease6
  • Distal intestinal obstruction syndrome (DIOS) is a partial or complete blockage of the intestines by thickened stool6 
  • Infertility in men (due to an abnormality/absence of the vas deferens) and decreased fertility in women6
  • Osteoporosis – thinning of the bones to the point of brittleness6
  • Nasal polyps are soft, fleshy growths in the nose caused by chronic inflammation in the nasal lining6
  • Mental health problems such as depression and anxiety6

Diagnosis and Treatment

Cystic Fibrosis Diagnosis

In 2021 in Canada, 60.5% of individuals with CF were diagnosed before the age of one year, and 73.1% were diagnosed by the age of two years. Only 8.1% of all individuals diagnosed in 2021 were 18 years of age or older.5

In 2021, 68.4% of new CF diagnoses in Canada were identified through newborn screening (NBS).5 Newborn screening programs in all provinces across Canada screen for cystic fibrosis and a number of other health conditions. Shortly after birth, a small blood sample is taken from the baby’s heel (the heel prick blood test). To screen for cystic fibrosis, the blood sample is checked for a chemical made by the pancreas called immunoreactive trypsinogen (IRT). IRT is normally found in small levels in the body. If the initial IRT screen is high or positive, more testing is needed to determine if the infant has cystic fibrosis or not. These tests may include a sweat test or a genetic test.

A cystic fibrosis sweat test (also known as a sweat chloride test) is used to diagnose CF in infants, children and adults. In the test a small amount of sweat is collected from the surface of your skin and the chloride or salt content is measured. People with CF may have very salty sweat. For a person who has CF, the sweat test results typically confirm the diagnosis by showing a high chloride level.

Genetic testing is used to determine the exact gene mutation. More than 2,000 different CFTR gene mutations have been identified.11 One of the most common is the delta F508 mutation.11 The specific mutations and combination of genes you have is known as your genotype. Your genotype will dictate the symptoms you have and the treatments you take.

In children who are not diagnosed by newborn screening, most are diagnosed with cystic fibrosis once they start to show symptoms. Common symptoms in children include chronic coughing, not gaining weight as well as expected, and abnormal bowel movements.

Babies may be diagnosed with CF at or shortly after birth due to meconium ileus. In this condition the baby’s gut becomes blocked with meconium – a black or dark green, tarry substance that is made in all babies’ intestines before birth and usually comes out in a baby’s first poop. Babies born with this problem may need urgent surgery to remove the blockage.

Cystic fibrosis is not curable, but treatment can ease symptoms and reduce complications. Treatment goals include:12

diagram showing treatments for cystic fibrosis

Non-Medication Based Treatments

Airway Clearance

Airway clearance is essential in cystic fibrosis care. Airway clearance therapy (ACT) uses non-invasive techniques to help loosen mucus or sputum so it can be cleared from your airways by coughing or huffing.

There are many different airway clearance techniques. It’s important to speak with your health care provider to find the type and frequency of treatment that’s best for you or your child.

Chest physical therapy or physiotherapy (CPT), also known as postural drainage and percussion (PD&P) is performed by your health care provider or care giver.13 You’re placed in several different postures or positions to help drain mucus from different parts of your lungs using gravity. Percussion or clapping on your chest wall is done by your care provider to help move the mucus into your larger airways so it can be coughed out. Most babies and toddlers with cystic fibrosis use physiotherapy to keep the lungs clear of mucus.

Self-administered airway clearance techniques include:

Autogenic drainage (AD)13 

Autogenic drainage uses a cycle of controlled breathing exercises to clear different levels of your lung. This technique moves mucus from the small airways to the medium-sized airways and then to the larger airways to be coughed out. Assisted autogenic drainage is used in babies.

Active cycle of breathing techniques (ACBT)13 

ACBT combines breathing control, deep breathing (thoracic expansion) exercise and huffing (forced expiration technique) performed in a cycle.

Oscillating positive expiratory pressure (OPEP) therapy13 

An OPEP device is a handheld device that combines positive expiratory pressure (PEP) with oscillations (or vibrations) to help clear secretions from your airways. As you exhale through the mouthpiece, positive pressure holds the airways open and allows air to get behind the mucus. Oscillations help to thin, loosen and move the mucus to the larger airways of your lungs where it can be coughed out. 

Positive expiratory pressure (PEP) therapy13 

A PEP device is a handheld device that creates positive pressure when you exhale through the device’s mask or mouthpiece. The positive pressure holds open the airways in your lungs, allowing air to get behind the mucus and loosen it so you can cough it out.

High frequency chest wall oscillation (HFCWO) therapy13 

In this technique external chest wall oscillations are applied to your torso using a fitted vest. The vest produces vibrations to help loosen and thin mucus and separate it from airway walls so it can be coughed up.

Intrapulmonary percussive ventilation (IPV)13 

This technique uses a pneumatic device to deliver short bursts of air into your lungs at a high rate. These percussive bursts of air are delivered during inhalation and exhalation and help to loosen and mobilize secretions to your upper airways where they can be coughed out.

Exercise

Physical activity plays an important role in maintaining the health and well-being of people with cystic fibrosis. Exercise may help to improve health-related quality of life.17 You should speak with your health care provider about the type and intensity of exercise suitable for you.

Nutrition and Diet

In most people with cystic fibrosis, the small channels that carry enzymes from the pancreas to the small intestine become blocked with mucus, preventing food from being digested and absorbed (this is called pancreatic insufficiency). Babies, children and adults with CF take pancreatic enzyme supplements to help digest food. You may also need a much higher number of calories each day to maintain a healthy weight.

Mental Health

Living with cystic fibrosis or caring for someone with CF can take a toll on your emotional well-being. Maintaining physical distance from others with CF to avoid cross infection can lead to feelings of isolation. It’s important to reach out to your CF care team to discuss resources that are available to help you.

Organ Transplants

Transplantation may be the next step for a person with advanced CF to extend and improve quality of life. Lung transplants are most common, as the lungs are most affected by cystic fibrosis. However, some people may need liver and other organs transplanted. Transplant is not a cure for CF.

Types of Medication

Cystic Fibrosis Medications

Bronchodilators

Bronchodilators are drugs that relax and open your airways, so air can flow more freely into your lungs allowing you to breathe more easily. Bronchodilators are used daily before an airway clearance session to help with mucus clearance. Salbutamol (or albuterol) is a commonly used bronchodilator that is inhaled using an inhaler (puffer) or a nebulizer.

Mucus Thinners

Hypertonic saline is a sterile saline solution with a salt (NaCl) content of 1% or higher that is used to hydrate and loosen mucus, making it easier to cough up. Hypertonic saline is inhaled using a nebulizer.

Mucolytics break down thick sticky mucus, making it thinner, looser and easier to clear from the lungs. These medications are used before airway clearance. Dornase alfa (trade name Pulmozyme†) is a commonly used mucolytic that is inhaled using a nebulizer.

Antibiotics

Antibiotics prevent, treat or control lung infections caused by bacteria that grows in the mucus. Antibiotics may be given by mouth (orally), by inhalation using a nebulizer or Metered Dose Inhaler (MDI) with a valved holding chamber or intravenously (IV).

Tobramycin (trade name TOBI†) is an antibiotic inhalation solution used to treat Pseudomonas aeruginosa lung infections in children and adults with cystic fibrosis. Tobramycin is given in a treatment cycle of 28 days on and 28 days off to help prevent antimicrobial resistance. Other inhaled antibiotics used to treat Pseudomonas aeruginosa lung infections are Aztreonam (trade name Cayston†), and colistimethate sodium (trade name Colistin†). These inhaled antibiotics are given using a nebulizer.

CFTR Modulators

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a specialized group of precision drugs designed to treat specific CFTR protein mutations. CFTR modulator medicines approved for use in Canada are Kalydeco† (ivacaftor), Orkambi† (lumacaftor/ivacaftor), Symdeko† (tezacaftor/ ivacaftor) and the new triple combination therapy drug Trikafta† (elexacaftor/ tezacaftor/ivacaftor).15

Insulin

Insulin is used to treat cystic fibrosis-related diabetes (CFRD).

Helpful Resources

Patient and Caregiver Resources

Age-Specific Resources

Canadian Information & Support

  • Employment and financial support  
  • Global affairs (travel)
  • Transition from pediatric to adult care
  • Parenting with CF

CF Canada resources

Guidelines

References

  1. Gao J, et al. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. Journal of Cystic Fibrosis 2022;21:456-462. https://www.cysticfibrosisjournal.com/article/S1569-1993(22)00031-5/fulltext
  2. What is Cystic Fibrosis? Cystic Fibrosis Canada. https://www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis (Last accessed January 16, 2024).
  3. Adriana Haack, et al. Pathophysiology of cystic fibrosis and drugs used in associated digestive tract diseases. World Journal of Gastroenterology 2013;19(46):8552-8561. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870500/.
  4. Cystic Fibrosis. National Heart, Lung and Blood Institute. https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis (Last accessed January 16, 2024).
  5. The Canadian Cystic Fibrosis Registry Annual Data Report. Cystic Fibrosis Canada. https://www.cysticfibrosis.ca/our-programs/cf-registry.
  6. Cystic Fibrosis, Symptoms & Causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700 (Last accessed January 16, 2024).
  7. Carrie A. Schram. Atypical cystic fibrosis. Canadian Family Physician. 2012;58(12):1341-1345. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/
  8. Pseudomonas. Cystic Fibrosis Foundation. https://www.cff.org/Life-With-CF/Daily-Life/Germs-and-Staying-Healthy/What-Are-Germs/Pseudomonas/ (Last accessed January 16, 2024).
  9. Lisa Saiman L et al. Cystic Fibrosis Foundation Guideline. Infection Prevention and Control Guideline for Cystic Fibrosis: 2013 Update. Infection Control and Hospital Epidemiology. 2014;35(S1):S1-S67. https://www.jstor.org/stable/10.1086/676882#metadata_info_tab_contents.
  10. Cystic fibrosis bugs. Cystic Fibrosis Trust. https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/lungs/bugs (Last accessed January 16, 2024).
  11. Férec C, Scotet V. Genetics of cystic fibrosis : Basics. 2020;27(1):eS4-eS7. https://pubmed.ncbi.nlm.nih.gov/32172936/
  12. Cystic Fibrosis, Diagnosis & treatment. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706 (Last accessed January 16, 2024).
  13. Physiotherapy for people with Cystic Fibrosis: from infant to adult. The International Physiotherapy Group for Cystic Fibrosis. Seventh edition, 2019. https://www.ecfs.eu/sites/default/files/general-content-files/working-groups/IPG%20CF_Blue%20Booklet_7th%20edition%202019.pdf
  14. Lisa Morrison, et al. Standards of Care and Good Clinical Practice for the Physiotherapy Management of Cystic Fibrosis. Cystic Fibrosis Trust. Fourth edition, November 2020. https://www.cysticfibrosis.org.uk/about-us/resources-for-cf-professiona…
  15. CF Canada. Access to Medicines. https://www.cysticfibrosis.ca/our-programs/advocacy/access-to-medicines/ (Last accessed January 16, 2024).
  16. Cystic Fibrosis Worldwide. https://www.cfww.org/%20 (Last accessed September 16, 2021).
  17. Tracey Daniels, et al. Standards of Care and Good Clinical Practice for the Physiotherapy Management of Cystic Fibrosis. Cystic Fibrosis Trust. Third edition, April 2017. https://www.cysticfibrosis.org.uk/the-work-we-do/resources-for-cf-professionals/consensus-documents.