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.
In this section we have tried to list the most frequently asked questions about Cystic Fibrosis. Select a question from the headings below, and hopefully you will find the answer you are looking for.
- How is CF Diagnosed?
- What are the symptoms of CF?
- How is CF Inherited?
- Is there a cure for Cystic Fibrosis?
- How is CF Treated?
- How does CF affect daily life?
1. 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.
The symptoms of CF may differ for each child. Infants born with CF usually show symptoms within the first year. Some children, though, may not show symptoms until later in life. The following symptoms may indicate CF, and infants having these signs may be tested for CF:
* diarrhea that does not go away
* foul-smelling stools
* greasy stools
* frequent episodes of wheezing
* frequent episodes of pneumonia
* persistent cough
* skin tastes like salt
* poor growth
* chronic sinus infection
The symptoms of cystic fibrosis may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.
Medical awareness of CF has increased tremendously over the years. Nevertheless, cystic fibrosis can still be confused with other children’s diseases — such as asthma, chronic bronchitis or pneumonia, and celiac disease.
3. How is CF Inherited?
Approximately one in every 25 Canadians is a carrier of the malformed CFTR gene responsible for CF. All genes come in pairs. A carrier has one good copy and one bad copy of the CFTR gene and consequently does 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 one faulty copy of the CFTR gene have a child, there is:
* a 25% chance that the child will be born with cystic fibrosis; (2 faulty copies of the CFTR gene inherited)
* a 50% chance that the child will not have CF, but will be a carrier; ( 1 faulty/1 good CFTR gene inherited)
* a 25% chance that the child will not have CF, and will not be a carrier. (no faulty CFTR genes inherited)
As yet, there is no known cure for CF, but there is real hope.
Comprehensive treatment programs have dramatically extended the life expectancy of persons with CF and many are living into their 20s, 30s and beyond.
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.
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 or inhaled form, to ease congestion and protect against and fight lung infection;
Cystic Fibrosis Canada (formerly the Canadian Cystic Fibrosis Foundation) gives supplementary funding to CF clinics across Canada. These clinics provide specialized care for individuals with cystic fibrosis. Across Canada, there are 37 clinics where a team of doctors, nurses, physiotherapists, dieticians, pharmacists and social workers offer specialized care for children, adults or both. The four BC clinics are listed below:
B.C. Children’s Hospital (paediatric service)
4480 Oak Street
Vancouver, British Columbia
(604) 875 – 2142
St. Paul’s Hospital (adult service)
1081 Burrard Street
Vancouver, British Columbia
(604) 689 – 2768
Victoria General Hospital (paediatric service)
35 Helmcken Road
Victoria, British Columbia
(250) 727 – 4247
Victoria General Hospital (adult service)
35 Helmcken Road
Victoria, British Columbia
(250) 592 – 1354
British Columbia is in crisis when it comes to the availability of organ donors. The list of CF patients desperately awaiting a transplant continues to grow. CF candidates for heart-lung or double lung transplantation are referred to the transplant program by their CF clinic director or physician:
British Columbia Transplant Society
3rd Floor, West Tower
555 West 12th Avenue
Vancouver, British Columbia V5Z 3X7
Web site: www.transplant.bc.ca/index.htm
Telephone: (604) 877-2240
Toll-free: (800) 663-6189
Fax: (604) 877-2111
Surgeon: Dr. Guy Fradet
Lung Transplant Coordinator: Carol Storseth
Genetic counselling and testing are available on referral through a family physician or CF clinic physicians. There is no cost to the individual for this service. The laboratory in British Columbia, which performs genetic testing for CF, is as follows:
Department of Medical Genetics
University of British Columbia
4500 Oak Street, Room C234
Vancouver, British Columbia V6H 3N1
Telephone: (604) 875-2157
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 the advances in research and clinical care, growing numbers of children with CF are surviving into adulthood. In 1960, when the Cystic Fibrosis Canada was founded, a child born with cystic fibrosis rarely lived four years. Cystic Fibrosis Canada is one of the few organizations that maintains extensive records, tracking a CF patient from first diagnosis. This data base called, the Canadian Patient Data Registry, is proving that advances have been made with the recent announcement that the median age of survival of Canadians with CF has reached its highest point ever: 37 years of age. This means that Canadians with CF now have a 50% chance of living beyond the age of 37. While this is positive news, the need for a cure is crucial for the 50% who won’t reach the age of 37.
Over 41% 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.