What is Cystic Fibrosis?

Cystic Fibrosis is a chronic disease affecting the lungs and digestive system of about 30,000 children and adults in the US. A defective gene and its protein cause the body to produce thick sticky mucus that clogs the lungs and obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb nutrients.

Approximately 1,000 new cases of CF are diagnosed each year. Most patients (about 70%) are diagnosed by age two, and more than 45% of the CF population is 18 or older.

How do you get CF? CF is a genetic disease - you must inherit two copies of the defective CF gene - one from each parent. A carrier (someone with one defective gene) will not have CF, and can only be determined through a blood test. If both parents are carriers, there's a 25% chance of their child being born with CF, a 50% chance of the child being a carrier, and a 25% chance of not having or carrying it. Medical scientists are currently researching a test to identify all carriers. Currently testing is possible only when a person's genes can be compared with those of a family member who has CF, to identify the specific CF mutation in that family.

CF is NOT contagious. People with CF may cough a lot because of the mucus in their lungs, but CF must be inherited - you cannot "catch" CF, nor can you "give" it to someone else. CF is also NOT caused by anything the parents did before or during the pregnancy, but by a pair of recessive defective genes.

Symptoms of CF:

• Very salty tasting skin
• Persistent cough, often with phlegm
• Frequent lung infections
• Wheezing or shortness of breath
• Poor growth/low weight in spite of a strong appetite
• Greasy, bulky stools OR difficult bowel movements

Note - CF does NOT affect the brain or cause intellectual disabilities.

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How is CF diagnosed?

Sweat Test

If a person has symptoms of CF, the doctors will usually perform a sweat test to determine if CF is the cause. Sweat testing is a simple, painless test which measures the salt concentration in a person's sweat. Sweat is collected from the person's skin and sent to a lab for diagnosis. A high level of salt indicates CF. If the test results are positive, a second test will most likely be performed to confirm the diagnosis.

Newborn Screening

Many states automatically test newborns for CF as part of the standard newborn screening procedures. Early diagnosis means that high calorie-high fat diets and airway clearance and enzyme therapies can be implemented before the child is symptomatic - which can delay the onset of CF complications and offer a better chance for a healthy future.

Genetic Testing

If a family member has CF, family members may be identified as carriers. Labs test the blood or cells from the inside of the cheek of the person with CF to identify that family's specific mutation of the CF gene. Other family members can then be tested for that mutation to find out if they are carriers. There are more than 800 different CF mutations identified, and while it is possible to test for these, testing will not recognize an as-yet undiscovered mutation.

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What to expect after diagnosis

There are many treatments which are enabling patients to live longer, healthier lives - go to school, get married, exercise, and have children. The most important factors to remember when living with CF is to work with your CF treatment team regularly, take all medications and supplements as prescribed, and to exercise regularly.

Healthy CF genes make a protein - CFTR (Cystic Fibrosis conductance Transmembrane Regulator) - found in cells that line organs like the lungs and pancreas. CFTR controls the movement of chloride, sodium and other electrically charged particles through the cells. When the protein is defective, the salt balance in the body is disturbed - which causes the thin layer of mucus that normally coats and protects the lungs to become thick, which clogs the airways and leads to infections . The thick secretions also block the flow of digestive enzymes from the pancreas to the intestines, which causes digestive problems in most CF patients.

The Cycle of CF Progression:

• Mucus in the lungs causes obstruction, supports bacterial growth which causes inflammation and infection
• Blood cells called neutrophils fight the infection, die, and release enzymes - which may damage the lungs further - and DNA, which thickens mucus even more
• Thicker mucus causes more obstruction ... more infections and inflammation

Post-Diagnosis Testing
There are many tests your doctors may order to see how your body is working with CF.

• Chest X-ray - lets your doctor see how the disease may be affecting your lungs
• Pulmonary Function Tests - measure how well your longs are working.
• Sputum Cultures (Phlegm cultures) - check for an active lung infection
• Blood Tests - will be done periodically to identify other CF-related problems, such as liver function, kidney function and diabetes, among others.

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Living with CF - an overview

When you take control of your Cystic Fibrosis, you take control of your life. There are many things that can be done to slow the damage to your lungs, and keep you healthier all around. It is very important that you see your CF treatment team regularly, and follow the treatments prescribed by your doctor. You can learn a lot more about Living with CF on this site.

Most people with CF will, on a daily basis:

• Take Pancreatic Enzyme Supplements with every meal and most snacks
• Eat meals with extra fat and calories
• Take multivitamins
• Perform some sort of airway clearance at least once per day
• Take aerosolized medicines (using a nebulizer)

Medicines used regularly:
Do not take any medications unless prescribed by your doctor!

• Mucus thinners - make the mucus easier to cough out
• Antibiotics - kill or slow the growth of bacteria
• Anti-inflammatories - reduce swelling and inflammation throughout the body, including the lungs
• Bronchodilators - open up airways for easier breathing

Many respiratory infections that would be a nuisance to a healthy person are more severe in a person with CF, and others are more common in CF patients than in the general population. The thicker mucus in the lungs becomes a breeding place for these germs and makes it harder for the body to fight the infections. Germ control - regular, frequent hand washing with soap and water or with hand sanitizing gels; vaccinations; proper cleaning and care of your equipment; and other safety precautions — is so important we've devoted an entire section to the topic. Learn more about Germ Control in the Living with CF section.

Exercise

Most children and adults with CF can participate in almost any physical exercise - like anyone else, start off slowly and review any new exercise programs with your doctor.. Because of the CF and the higher concentrations of salt that will be lost through sweat, it is very important to make sure extra fluids and salts are taken when exercising strenuously or in hot weather. Exercise helps loosen mucus, making it easier to cough up; stimulates coughing; builds strength and endurance of the breathing muscles; and increases the overall fitness of the cardiovascular system.

Airway Clearance

With CF, the cilia, which move the mucus in healthy lungs, are thickened and less effective. Clearance techniques loosen the mucus in the lungs and airways so it can be coughed up — this keeps mucus out of lungs to improve breathing and reduce/avoid infections. Learn more about proper Clearance Techniques.

Types of Clearance:
Postural Drainage with Clapping
Autogenic Drainage
Positive Expiratory Pressure
Active Cycle of Breathing
Flutter Airway Clearance

Lung Transplantation

The repeated lung infections and inflammations lead to chronic lung disease in almost all CF patients. Lung transplants do not "cure" CF, because other organs are affected by CF as well, but do provide the patient with a new set of lungs. Transplants risk organ rejection, and will require additional medications to prevent rejections.

Gene Therapies

At present, research is ongoing into potential gene therapies which might cure CF, but are not currently available.

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How do I pay for all this treatment?

Talk to us! We take most forms of insurance, and if we're not on the panel for your policy, will contact them to get approved. Our social workers can put you in touch with specific programs - through the Cystic Fibrosis Foundation, drug companies, the hospital, the state and the federal government - created to help you deal with the financial and social issues that arise from living with CF.

Cystic Fibrosis Services is a specialty pharmacy and a subsidiary of the Cystic Fibrosis Foundation, and is affiliated with more than 5,000 insurance plans and 40 state and federally funded programs. The Cystic Fibrosis Patient Assistance Program (CFPAP) is a non-profit subsidiary of CFF that helps qualified people with CF pay for high-cost nebulized treatment.
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