Cystic Fibrosis: Living With The Octopus Inside Your Chest
Medically reviewed by Carmen Fookes, BPharm. Last updated on Feb 10, 2021.
Cystic Fibrosis: A Daily Fight Against Mucus
If you have Cystic Fibrosis (CF), you are not alone. CF is an inherited condition (meaning you get it from your parents) that affects over 30,000 children and adults in the U.S. (70,000 worldwide).
CF affects a number of organs in the body, most notably the lungs and the pancreas. People with CF make mucus that is thick and sticky which clogs up the lungs making breathing difficult. The mucus can also block the release of enzymes from the pancreas that are needed for food digestion, causing poor weight gain or malnutrition.
When A Gene Doesn't Work Like A Gene Ought To
CF is caused by a defect in a specific gene called the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR gene). This gene makes a protein that controls the movement of salt and water in and out of a cell. Over 2000 cystic fibrosis-causing defects in the CFTR gene have been identified, which explains why the disease can vary in severity.
Defective CFTR genes make thick, sticky mucus and very salty sweat.
How Do You Know If Your Child Has CF?
Symptoms of CF usually become apparent at an early age and most children are diagnosed by the age of two. A small number of children with a milder form of the disease may not be diagnosed until aged 18 or older.
All states in the U.S. routinely screen newborns for CF. The exact testing method varies from state-to-state and some states require a second blood test a few weeks after birth. Screening is important because it can take some time for a child born with CF to develop symptoms. The earlier a child is diagnosed and treatment started, the healthier that child will be.
Cystic Fibrosis Symptoms In Newborns
Symptoms in infants with CF are noticeable. Babies born with CF tend not to grow or gain weight the way other babies do. Their skin and sweat is also noticeably salty. With time, breathing problems, lung infections, a persistent cough, and wheezing become more apparent.
One in every ten babies born with CF develop a blockage in their intestine at birth or within the first few days of life. Slightly older children may pass stools that are pale or clay-colored, foul smelling, contain mucus, or that float.
CF Affects Other Organs Such As The Pancreas
Our pancreas is about 6 inches long and sits behind our stomach. It releases powerful enzymes to help breakdown food and hormones (such as insulin) that allow food to provide cells with energy.
The thick, sticky mucus produced by people with CF can clog up ducts in the pancreas preventing digestive enzyme release. This can lead to malnutrition, poor growth, tiredness, and delayed puberty. In older people, the lack of insulin can lead to cystic fibrosis-related diabetes.
Treatment Aim Number One: Clear And Thin Mucus
Getting that thick, sticky mucus to a manageable consistency to allow it to be coughed out requires a combination of both medical and physical therapies.
Medications like dornase alfa inhalation (Pulmozyme) decrease the stickiness and thickness of the mucus, making it easier to cough out. Inhaled hypertonic saline (extra salty salt solution) encourages more water to be drawn into the lung space, thinning mucus, improving lung function, and reducing the risk of infection.
Physical Therapy Used With Medications To Help Clear Lung Mucus
Several different techniques are used in conjunction with medication to help clear the airways. One of the more commonly used techniques is chest physical therapy (CPT).
In CPT, the therapist or caregiver uses their hands to pound the chest and back of the person with CF, over and over. A device may also be used which helps loosen the mucus. Changing position allows gravity and the force from the chest percussion to drain mucus from different lung parts.
Bronchodilators Work With Other Treatments To Help With CF
Bronchodilators are inhaled medicines that open up the airways making breathing easier. They are the main treatments used in people with asthma, but they may also be used in people with CF, especially before CPT. However, not everybody with CF gets benefit from a bronchodilator. So your doctor may do a trial of the bronchodilator to see if it works for you.
In November, 2020, the FDA approved a new type of inhalation therapy. Bronchitol is an inhaled dry powder formulation of the sugar alcohol mannitol that may be used in addition to other CF maintenance treatments to improve pulmonary function in adults. Mannitol draws water into the airways and moisturizes the mucus, making it easier for people with CF to expel the mucus.
Three large trials showed that Bronchitol use significantly improved FEV1 compared to patients in the control group over 26-weeks. However, there is a risk of bronchospasm associated with the use of Bronchitol, which means it can only be used in adults who have passed the Bronchitol Tolerance Test (BTT).
Other common side effects of Bronchitol include cough, blood in the sputum, throat pain, vomiting, fever, and joint pain. Bronchitol is administered twice a day.
Treatment Aim Number Two: Replace Missing Enzymes
The majority of people with CF need to take enzyme supplements with every meal or snack to help with food digestion. These mostly contain pancrelipase. The amount of capsules needed depends on the food being eaten, and varies from person to person.
Managing Other Symptoms of CF
Several other drugs help manage symptoms of CF.
Antibiotics are used to treat lung infections. If the infection is mild, oral antibiotics may be given. For lung infections caused by the bacteria Pseudomonas aeruginosa, inhaled antibiotics such as azithromycin (Zithromax), or tobramycin (Nebcin, TOBI solution/Podhaler) are preferred.
Ibuprofen (Motrin, Advil) is an OTC anti-inflammatory medicine that can reduce swelling in the airways of people with CF due to ongoing infections. Your doctor will monitor you closely if you take ibuprofen.
Good Nutrition, Exercise, And Supplements = An Active Life
In addition to eating a well-balanced diet that's rich in calories, fat, and proteins, supplements of vitamins A, D, E, and K are needed to replace the fat-soluble vitamins that aren't easily absorbed.
A high-salt diet or salt supplements counteract the salt lost through sweat during exercise. Some people may also require supplemental feeding through a feeding tube while they are sleeping. Being active also helps symptoms of CF and reduces lung function decline. Almost everybody with CF can become more active, but talk with your doctor or CF Care Center for advice and support.
Targeted Treatments: The First Step On The Road To A Cure?
Kalydeco (ivacaftor) is suitable for CF sufferers aged 4 months or older with one or more specific mutations in their CFTR gene that is responsive to Kalydeco. It allows the defective CFTR protein to work better and increases salt and water movement within the airways. This thins the mucus and makes it easier to cough out.
Kalydeco specifically targets the underlying cause of CF. Research demonstrates that Kalydeco markedly improves lung function, reduces salt levels in sweat, and helps people with CF gain weight. It is too early to say whether it will cure people with CF.
Orkambi: Combination Targeted Therapy
In July 2015, the FDA approved Orkambi, which is a combination therapy containing the drugs ivacaftor and lumacaftor. Orkambi is approved for CF patients with two copies of the F508del mutation in their CFTR gene, who are aged 2 and older. Inheriting two copies of the F508del mutation (one from each parent) is the leading cause of CF.
Evidence shows Orkambi improves lung function in people with CF. Side effects may include shortness of breath, upper respiratory tract infection, nausea, diarrhea or rash. Menstrual abnormalities, such as increased bleeding, may be experienced by some women.
Orkambi should be taken every 12 hours with fat-containing food such as eggs, avocados, nuts, butter, peanut butter, cheese, and whole-milk dairy products. Granules are available for younger children aged two through five years and these should be mixed with one teaspoon of soft food or liquid. Other therapies prescribed for CF - including bronchodilators, inhaled antibiotics, dornase alfa, and hypertonic saline - should continue to be used if you are prescribed Orkambi.
Symdeko was approved in February 2018, the third disease-modifying medicine to become available for the treatment of adults and adolescents with cystic fibrosis (CF) over the age of six. Symdeko is suitable for people with CF who have two copies of the F508del mutation, or with at least one mutation that responds to treatment with Symdeko.
Symdeko contains ivacaftor and tezacaftor. Ivacaftor allows the defective CFTR protein to work better, improving the exchange of chloride ions across cell membranes within the airways. Tezacaftor moves the defective CFTR protein to the cell membrane so that it can facilitate the transfer of chloride ions across the membrane. Ivacaftor boost the function of the defective CFTR protein and tezacaftor corrects its location. This combined approach helps maintain a good balance of salt and water within the lungs and provides superior treatment compared to either drug alone.
Symdeko consists of 2 different tablets. A yellow tablet that contains both ivacaftor and tezacaftor and is taken once daily in the morning, and a blue tablet containing only ivacaftor that is taken 12 hours later in the evening. Two different strengths of Symdeko are available.
Symdeko needs to be taken with food that contains fat, such as butter, cheese pizza, eggs, peanut butter, or whole-milk dairy products.
Trikafta: Suitable for Almost 90% of People with Cystic Fibrosis
In October, 2019, Trikafta was approved by the FDA.
Trikafta is a triple combination therapy that contains elexacaftor, ivacaftor, and tezacaftor and is approved for people with cystic fibrosis who have at least one F508del mutation in the CFTR gene.
This means it is suitable for almost 90% of the cystic fibrosis population - many of whom were previously ineligible for previous treatment options. Trikafta helps the protein made by the defective CFTR gene function more effectively. Common side effects include a rash, flu-like symptoms, headache, abdominal pain, nasal congestion, and diarrhea.
Much Hope In The Pipeline For One Day Finding A Cure
If you have CF, take comfort in the fact that hundreds of scientists are actively searching for a cure. In the 1950s, people with CF were lucky to see their fifth birthday. Researchers have come a long way since then. Identification of the actual defective gene and progress in understanding the disease has meant more than half of people with CF live beyond their 40s. Across the border in Canada, the life span for people with CF is a whole ten years longer than in the U.S.; a significant difference experts believe results from the countries differing transplant and nutrition policies, and health insurance systems.
Help the Cystic Fibrosis Foundation add tomorrow to the lives of people with CF. Lend your time or your talents, raise awareness of the disease, participate in a clinical trial or donate. Make CF stand for Cure Found!
Finished: Cystic Fibrosis: Living With The Octopus Inside Your Chest
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- Carvalho T. FDA Approves Bronchitol Inhalation Powder as Add-on Treatment for Adult CF Patients NOVEMBER 4, 2020 Cystic Fibrosis News Today. https://cysticfibrosisnewstoday.com/2020/11/04/fda-approves-bronchitol-inhalation-powder-add-on-treatment-cf-adults/
- Cystic Fibrosis. Mayo Clinic. 2021. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
- Cystic Fibrosis Foundation. 2021. https://www.cff.org/
- Cystic Fibrosis. CDC. 2021. https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm