What is cystic fibrosis?

Cystic fibrosis (CF) is the most common, fatal genetic disease affecting young Canadians. CF affects mainly the lungs and the digestive system. In the lungs, CF causes severe breathing problems. A build-up of thick mucus makes it difficult to clear bacteria and leads to cycles of infection and inflammation, which damage the delicate lung tissues. In the digestive tract, CF makes it extremely difficult to digest and absorb adequate nutrients from food. Thick mucus also blocks the ducts of the pancreas, preventing enzymes from reaching the intestines to digest food. Therefore, persons with CF must consume a large number of artificial enzymes (on average 20 pills a day) with every meal and snack, to help them absorb adequate nutrition from their food. They must also follow a demanding daily routine of physical therapy to keep the lungs free of congestion and infection. How many Canadians have cystic fibrosis?

It is estimated that one in every 2,500 children born in Canada has CF. At the present time, approximately 3,400 children, adolescents, and adults with cystic fibrosis attend specialized CF clinics. What Are the Signs and Symptoms of Cystic Fibrosis?

• difficulty breathing;
• constant cough which expels thick mucus;
• excessive appetite, with weight loss;
• bowel disturbances;
• skin which tastes salty;
• repeated or prolonged bouts of pneumonia;
• failure to thrive.

CF was first described as a disease in the late 1930s. At that time, it was usually recognized only after a child had died, often as a result of malnutrition or pneumonia.Medical awareness of CF has increased tremendously over the years. Nevertheless, cystic fibrosis can still be confused with other common diseases -- such as asthma, chronic bronchitis or pneumonia, and celiac disease.

What Causes Cystic Fibrosis?

People are born with cystic fibrosis; it is a genetic disorder.

Approximately one in every 25 Canadians carries a defective version of the gene responsible for CF. A carrier has only one copy of the gene responsible for CF. Carriers do not have cystic fibrosis, and can never get the disease. In most cases, they are not even aware that they are carriers, because they do not have cystic fibrosis, or any of its symptoms.

When two people who carry a defective version of the gene responsible for CF have a child, there is:

• a 25% chance that the child will be born with cystic fibrosis;
• a 50% chance that the child will not have CF, but will be a carrier;
• a 25% chance that the child will not have CF, and will not be a carrier.

With each pregnancy, the risks are exactly the same. Two carrier parents may have several children with CF or none at all.

How is CF diagnosed?

If a physician suspects CF, he or she will probably suggest a "sweat test". This simple and painless test measures the amount of salt in the sweat. A high salt level, along with other symptoms, points to the presence of cystic fibrosis.

Increasingly, genetic tests are being used in the diagnosis of the disease. Genetic tests are also used to diagnose CF prenatally.

When is cystic fibrosis diagnosed?

Approximately 60% of patients are diagnosed in the first year of life, and 90% by 10 years of age.

How is CF treated?

Treatment programs are tailored to individual needs and depend upon the stage of the disease and which organs are affected. Treatments followed at home generally include:

• tapping or "clapping" the chest and the back vigorously(percussion) or PEP (positive expiratory pressure) Mask Therapy to help loosen the mucus which clogs the lungs;
• taking pancreatic enzymes with all meals, to aid digestion;
• taking nutritional supplements and vitamins to promote good nutrition;
• taking antibiotics in pill, intravenous (IV), and or inhaled forms, to ease congestion and protect against and fight lung infection;
• exercise.

How does cystic fibrosis affect daily life?

For persons with CF, life includes a daily routine of therapy and periodic visits to a CF clinic. Otherwise, most individuals with cystic fibrosis lead normal lives, for many years, in terms of education, physical activity, and social relationships. Eventually, however, lung disease places increasing limits on daily life.

Thanks to advances in research and clinical care, growing numbers of children with CF are surviving into adulthood. In 1960, when the CCFF was founded, a child born with cystic fibrosis rarely lived four years. Today, half of all Canadians with CF are expected to live into their late-thirties and beyond.

Over 47% of all Canadians with CF are over the age of 18 years. These men and women are pursuing post-secondary education, careers and many are having families of their own; a tremendous accomplishment, but not enough.

Is There a Cure for Cystic Fibrosis?

As yet, there is no known cure for CF, but there is real hope.

Comprehensive treatment programs have dramatically extended the lives of persons with CF and many are living into their 20s, 30s and beyond.

As of 2002, the median age of survival of a person with cystic fibrosis is 37 years of age. The median age of survival is the age beyond which half of the CF population can be expected to live.

Recent years have seen remarkable progress in CF research. Since 1989 when Canadian researchers discovered the gene responsible for CF, global research to find a cure for the disease has brought us closer and closer to a solution.

The astonishing pace of CF science suggests that there is good reason to feel optimistic about the future.

Disease Manifestations

Cystic fibrosis (CF) is caused by a mutation in a gene called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) which leads to the production of a defective CFTR protein. Functional CFTR proteins form channels in the cell, through which salt can flow. CF affects the airways, where thick mucus accumulates in the lungs and sinuses, causing most individuals with CF to cough, wheeze and have general difficulties breathing. The build up of mucus typically leads to lung disease, as a result of bacterial colonization and persistence in the moist wet environment of the CF lung causing chronic infections that require long-term antibiotic use. Eventually bacterial infections can cause severe lung damage generally associated with a decline in health and wellness in individuals with CF. Daily physiotherapy and scheduled clinic visits are important in maintaining lung function and general good health.

The digestive system is also affected in individuals with CF. Approximately eighty-five percent of individuals with CF are pancreatic insufficient, meaning they are unable to digest most food. The thick mucus in CF causes blockages in the pancreatic ducts that typically secrete enzymes, required to digest food, into the small intestine. Pancreatic enzyme insufficiency is treated with pancreatic enzyme supplements, which are taken with every meal or snack. However, even with taking enzyme supplements, individuals with CF require more calories than normal. Poor digestion can often lead to being underweight and lack of essential nutrients, vitamins and minerals.