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 CF?

It is estimated that one in every 3,600 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 CF?

• 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 CF?

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 CF 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 CF 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.

More than 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 CF?