Cystic Fibrosis

Cystic fibrosis is a genetic disease, and is therefore not contagious. It mainly affects the lungs and digestive system. In the lungs, it causes an accumulation of thick mucus that can clog the airways, and leads to a wide range of problems, including recurrent infections. In the digestive system, mucus accumulation prevents the body from absorbing nutrients from food, affects growth in children and causes abdominal pain.

Causes

As mentioned, cystic fibrosis is a genetic disease, which means a child can inherit the disease from the parents through their genes. For cystic fibrosis to occur, a child must inherit two defective copies of the gene responsible, one from each parent. When only one gene is passed on, the child will be a carrier, but will not have cystic fibrosis.

Currently, there is no cure for cystic fibrosis. There are however, multiple treatments that can help control the symptoms and improve the lives of those affected by this disease. Canadians with cystic fibrosis are living longer, healthier lives than ever before, and nearly 60% of those with cystic fibrosis are now adults.

Symptoms

Cystic fibrosis is not always diagnosed in infants because symptoms may not be that obvious and can, on occasion, be attributed to other conditions. Cystic fibrosis affects several body parts, and the most common symptoms are:

• Shortness of breath
• Persistent cough with production of thick mucus
• Frequent bronchitis and pneumonia
• Sinusitis

• Abdominal pain, constipation, diarrhea
• Large, foul-smelling or greasy stools
• Weight loss or failure to gain weight despite an increased appetite

• Very salty sweat (you might taste salt when kissing your child)
• Delayed growth
• Impaired fertility (male and female)

Diagnosis

If symptoms suggestive of cystic fibrosis are observed, various tests that may lead to a cystic fibrosis diagnosis will be ordered by a doctor. One of the tests, known as the sweat test, is used to determine if the amount of salt content in sweat is higher than the norm. Blood tests may also be performed to screen the patient for the cystic fibrosis gene. Lastly, a newborn screening test is also available.

Treatment

Cystic fibrosis affects each individual with varying degrees of severity and this is why each patient receives individualized treatment. Treatments are divided into two categories: respiratory and nutritional.

From a respiratory standpoint, the main goal is to clear mucus from the airways to ease breathing. To do so, several methods are used. Chest physiotherapy treatments, including breathing exercises, chest percussion and mechanical vibration, are specifically recommended for all patients. These techniques can be shown to parents or to the patients themselves so they can be performed at home. Aerosol medications are also used to help clear mucus from the lungs and dilate the airways to promote mucus clearance. Lastly, antibiotics are sometimes required to prevent or treat infections.

From a nutritional standpoint, most patients require a diet with increased calories, protein and vitamins because the body has difficulty absorbing nutrients from food. Enzymes, taken orally, are also used to help the body absorb nutrients, reduce the number and size of stools, and alleviate pain and bloating. Working with a dietician is a must for those with cystic fibrosis.

Also, oral treatments are available and help relieve disease-related symptoms.

For more information or support:

• Cystic Fibrosis Canada