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Did you know that 1 out of 25 people in Quebec is a carrier of the genetic defect responsible for cystic fibrosis. Here is some additional information about the disease.
CF is a disease affecting the body’s production of mucous. The body normally produces clear watery mucous in the respiratory tract to clean dust particles for example. For those who suffer from cystic fibrosis, this mucous is thick and sticky, which can block airways, make breathing difficult and promote the proliferation of bacteria.
This disease also affects the digestive tract, more specifically, the pancreas. Its role is to secrete substances called “enzymes”, which help to digest food. Because the mucous produced by the body is thicker, it blocks the pancreatic duct that helps bring the enzymes to the intestine. Therefore, food is poorly digested, which can lead to nutritional deficiencies.
Although the respiratory and digestive tracts are most commonly impacted by CF, other parts of the body can also be affected, such as the liver.
CF is usually diagnosed in the first days of life. It affects about 1 out of 3 600 children in Canada and concerns boys and girls in roughly equal numbers.
Because it is a genetic disorder, it cannot be prevented. However, an individual may have a genetic deficiency pertaining to the gene responsible for CF without suffering from the disease. This individual is said to be a carrier of the disease, but does not present any symptoms.
In order to have CF, a person must receive a defective gene from both parents. Therefore, if two individuals who are carriers of the defective gene have a child together, the child will have CF 25% of the time. Moreover, the child will be a carrier of the defective gene 50% of the time, and 25% of the time, will not be a carrier or have the disease.
Regarding pulmonary function, individuals affected by CF experience wheezing and have a persistent cough. They also often have thick and sticky expectorations that predispose them to respiratory infections, such as pneumonia. In fact, respiratory problems are the main cause of death in individuals affected by CF.
In terms of digestion, individuals affected by CF may have intestinal problems, such as diarrhea or constipation. They may also have nutritional deficiencies due to poor digestion, leading to weight loss or delayed weight gain or growth.
The disease can also lead to fertility problems. Moreover, it produces an abnormally high level of salt in sweat; in fact, it can be diagnosed by measuring the level of salt in sweat (sweat test).
Unfortunately, there is currently no cure for CF. Therefore, treatment aims to relieve symptoms and improve quality of life and life expectancy of those affected by the disease.
Regarding pulmonary function, respiratory exercises enable individuals to eliminate mucous in order to clear airways. Certain medications can also be taken to help open the respiratory tract (bronchodilators). Antibiotics can also be used to prevent or treat respiratory infection. Certain cortisone derivatives and medication called “mucolytics” can sometimes be used to thin mucous in the lungs and promote expectoration.
Chest physiotherapy is an effective method of fighting respiratory problems inherent to CF. In some cases, a lung transplant may be considered.
In terms of digestion, patients may need a digestive enzyme supplement. These supplements help compensate for the lack of pancreatic enzymes that can’t be produced normally and improve digestion. Vitamin and mineral supplements are also used to make up for nutritional deficiencies. A special diet rich in calories, salt and protein must be followed to ensure healthy weight gain and growth.
Speak to your doctor of pharmacist for additional information about the treatments for CF.
If a family member has CF, it is likely to impact your daily life. Here are a few tips to help you better cope with the disease:
Individuals affected by CF often died before the age of five in the 1960s. Today, their life expectancy has much improved; more than half of them now live past the age of 50!
There’s undoubtedly still a long way to go to better understand the disease and the various forms of treatments to consider. However, emphasis on research offers hope for the future and perhaps even a cure.
Don’t hesitate to speak to your pharmacist for information about health and medication.
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