Cystic Fibrosis

Cystic fibrosis (CF), also known as mucoviscidosis, is a disease that affects the lungs and digestive system. In fact, it affects all mucus-secreting glands. Mucus is a clear liquid substance that is found, for example, in the mouth, intestines and airway. Persons with cystic fibrosis produce excessive quantities of thick, sticky mucus. As a result, the bronchioles become obstructed, making it difficult for them to breathe. As for the digestive system, the narrow ducts in the liver and pancreas become partially or totally blocked. This leads to incomplete digestion and absorption of nutrients. These environments are also more prone to bacterial proliferation, which leads to infections that can aggravate the situation.

Causes

Cystic fibrosis is inherited; it is not something than can "be caught". The disease is caused by a gene that is passed on from both parents. For a person to develop cystic fibrosis, both copies of this particular gene must be defective. "Carriers" are individuals who only have one defective gene. They are healthy individuals who, generally speaking, have no idea they carry this gene. In Canada, it is estimated that one in every 25 people are carriers. The only risk occurs when both parents carry the defective gene. Their chances of having a child with cystic fibrosis are 1 in 4. The incidence of cystic fibrosis is highest among the Caucasian population, regardless of gender.

Symptoms

The first sign that may alert parents to the fact that their child could have cystic fibrosis is a salty taste on the child's skin. Constant coughing, wheezing and repeated lung infections (bronchitis) are also common signs of cystic fibrosis in infants.

Over time, other symptoms may develop.

Respiratory Symptoms

  • Constant shortness of breath
  • Wet cough with expectoration of mucus
  • Recurrent bronchitis and pneumonia
  • Nasal polyps

Digestive Symptoms

  • Abdominal pain
  • Gas, bloating
  • Greasy, bulky and foul smelling stool
  • Chronic diarrhea
  • Excessive appetite with weight loss

Other Symptoms

  • Delayed growth
  • Swollen finger tips
  • Very salty sweat (2 to 5 times more concentrated than the norm)

Diagnosis

If your child has any of the symptoms listed above, your physician will most likely want to test for cystic fibrosis. Children are generally diagnosed very early in life, most often before the age of three years. A sweat test (the sweat of those with CF is much saltier than the norm) and a blood test are among the diagnostic tests available.
Couples with a family history of cystic fibrosis can undergo testing to see whether they carry the gene responsible for the disease. This is done through a simple blood or saliva analysis.

If the parents of a child with cystic fibrosis wish to have other children, they can undergo testing, as early as the tenth week of pregnancy, to see whether the baby they are carrying has the disease. This test consists of taking a small sample from the placenta to see whether or not the defective gene is present. Parents can then choose to continue or end the pregnancy.

Treatment

To date, there is no cure for cystic fibrosis. However, the gene responsible for the disease has been identified and researchers are working at finding an effective treatment. The life expectancy of a person with cystic fibrosis is now 38 years old and is on an upward trend.

There are two treatment axes for cystic fibrosis: respiratory and nutritional.

With regards to respiration, the main goal is to alleviate breathing difficulties by ridding the body of the mucus that obstructs the bronchioles. A variety of methods are available including antibiotic therapy which is used to fluidify the mucus and prevent lung infections. Kinesitherapy is another method that uses various exercises such as assisted coughing or laughing to stimulate the expectoration of mucus. Postural drainage (or clapping) is another method carried out daily to dislodge excess mucus. These percussion sessions are often performed by a physiotherapist and involve tapping on the chest and back to loosen mucus. Within no time at all, parents and even those affected, familiarize themselves with this method and take over from the physiotherapist. Oxygen therapy can also be beneficial in times of more serious breathing difficulties.

With regards to nutrition, it is important to have an enriched diet since nutrients are not absorbed normally. Certain enzyme supplement may be taken to replace those in the pancreas that are not functioning. Vitamin supplements are also necessary. Persons with cystic fibrosis should be under the care of a dietician.

For more information or for support :

Canadian Cystic Fibrosis Foundation

www.cysticfibrosis.ca

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