Cystic Fibrosis

Cystic fibrosis (CF) is a relatively rare, inherited genetic condition. CF causes the production of thick mucus in the lungs, preventing normal breathing. Cystic fibrosis (CF) is a life-threatening disorder because it causes severe lung damage and nutritional deficiencies.

CF affects the cells that produce mucus, sweat, saliva and digestive juices. Normally, these secretions are thin and slippery, but in CF patient, a defective gene causes the secretions to become thick and sticky, this is where respiratory failure occurs.

For a child to have CF he/she must inherit a defective copy of the CF gene from each parent. Each time two carriers conceive a child there is a 25% chance that the child will have CF, a 50% chance that the child will be a carrier, and a 25% chance that the child will be a non-carrier. The greatest risk factor for CF is a family history of the disease. If both you and your partner come from families with CF, the chances are one in four that one of your children will also have CF.

What are the Symptoms of CF?

The specific signs and symptoms of CF can vary from person to person, depending on the severity of the disease. The most common symptoms of CF are:

• Salty-tasting skin
• Persistent coughing
• Excessive appetite with poor weight gain
• Foul-smelling greasy stools
• Shortness of breath
• Thick, sticky mucus on the lungs
• Lung infections
• Infertility
• Wheezing
• Pneumonia
• Bronchitis
• Diarrhea that does not go away
• Chronic sinuses.
• Small growths (polyps) in the nose
• Nasal polyps
• An enlarged liver and spleen
• Diabetes

Diagnosis

A standard diagnostic test for CF is a Sweat test. A sweat test measures the amount of sodium or chloride in a person's sweat. During the procedure, a small amount of an odorless sweat-producing chemical is applied to a small area on the arms or legs. An electrode attached to the area stimulates a very weak and painless electric current, causing a tingling or warm feeling. After several minutes, sweat is collected from the stimulated area and sent to a laboratory for analysis. A consistently high level of salt indicates CF.

Treatment of CF

There is currently no cure for cystic fibrosis. The main goal will be to prevent infections, reduce the amount and thickness of secretions in the lungs, improve airflow and maintain adequate calories and nutrition. The earlier the disease is diagnosed and treatment begins, the more effective the treatments will be.

The treatment follows two paths.

• Physiotherapy - people with CF need daily chest physiotherapy, which involves vigorous massage to help loosen the sticky mucus
• Enzyme therapy - during each meal or snack, people with cystic fibrosis need to take replacement enzymes such as pancreatin (e.g. Pancrex -these supply the missing pancreatic enzymes and allow for proper digestion).

Most people born with the disease never lived beyond their teenage years but now, due to advances in medical knowledge CF sufferers are living longer and now the average age of survival for a person born with CF is in their mid-30’s, with some living beyond age 40.

Treatments for CF

• Antibiotics- fight the bacteria that cause lung infections in people with CF.
• Mucus-thinning drugs.
• Bronchodilators - helps keep open the bronchial tubes by clearing thick secretions.
• Bronchial airway drainage - people with CF need a way to physically remove thick mucus from their lungs.
• Oral enzymes and better nutrition.
• Lung transplantation - this is for patient with severe breathing problems and life-threatening lung complications
• Diet, medication and early recognition of infection are important.
  

How to cope with CF

After you or someone you love receives a diagnosis of cystic fibrosis, you're likely to experience many emotions, including anger, concern, guilt and fear. All are normal responses.

• Talking openly about how you feel can help. It may also help to talk with others who are dealing with the same issues.
• Use nutrition supplements that are approved by your doctor.
• Avoid alcohol and smoking
• Encourage hand washing on children.
• If you're pregnant or trying to become pregnant, you may want to consider talking to a medical practitioner about a CF carrier test for you and your partner.