Written by: Cally Worden
Cystic fibrosis is a genetic disease that interferes with the movement of salt among certain cells in the body. It is a life-threatening condition that results in the production of thick secretions in the form of salty sweat, heavy and sticky mucus, and viscous digestive juices. The movement of these secretions around the body can cause the lungs and digestive systems to clog-up. This can lead to breathing difficulties, and the inability of the body to absorb the necessary nutrients from food. As havens for bacteria, these secretions can also cause lung infections and growth problems.
Signs and Symptoms
Newborn screening can detect cystic fibrosis, and if there is a family history then pre-natal genetic testing can diagnose it in the womb. In the absence of a pre-emptive diagnosis there are signs and symptoms that develop in most babies and young children suffering from the disease, and these include:
- Regular chesty coughing and wheezing, with the rattle of mucus in the lungs
- Lung infections such as bronchitis or pneumonia
- Shortness of breath
- Slow growth, despite a healthy appetite
- Frequent, large and loose bowel movements, that may appear greasy
- Bloating and stomach pain
- Salty skin and excess sweating
- Meconium ileus – a condition where the meconium that is usually expelled by a baby in the first few days after birth gets stuck in the intestines
The majority of cases of cystic fibrosis are diagnosed before the age of three, but around 10% go undetected into adulthood. Rarely seen in Asian babies, cystic fibrosis affects around 1 in 3000 white children, and around 1 in 15000 youngsters of African descent.
Diagnosis and Treatments
The most common method of diagnosis is a ‘Sweat Test’. The drug pilocarpine is used to stimulate sweat from an area on the arm, which is then swabbed and tested for the level of salt it contains. Elevated levels are a strong indicator of the disease. Further confirmation can be obtained via genetic tests from blood and saliva, or chest x-rays.
The condition can be mild or severe, and come and go in intensity. Initial treatments are best administered in a controlled medical environment, but once parents have learned what is required most children are able to live comfortably at home. Regular visits to the doctor ensure that the treatment path is carefully monitored and stays on track.
Primary treatments include anti-infection medication, and other drugs to help break down the mucus in the lungs, and reduce inflammation that can occur there. Parents are also shown how to thump their child’s chest to loosen lung mucus, and this may need to be done several times each day. A pancreatic enzyme supplement may also be prescribed to aid digestion, along with a nutritional supplement if it is thought necessary.
In severe cases parents may need, on occasion, to provide their child with oxygen to assist with breathing difficulties.
New treatments are under review and being tested all the time.
There is no cure for cystic fibrosis. Treatments have, however, been found to be very effective in not only prolonging life, but also in improving the quality of life for sufferers. Early diagnosis increases the effectiveness of the treatments available. Most sufferers are able to lead a relatively normal life, attending school and engaging in many standard childhood activities.
With early detection and the regular application of treatments the prognosis for cystic fibrosis sufferers is good. Medical advances continue to expand life expectancy. As little time ago as the 1980s, the average life expectancy for a child with the disease was just 14 years of age. Today this figure has risen to 40 years of age, or even 50 in less severe cases where the function of the pancreas is not affected. Clearly, these figures rely on sufferers experiencing no additional medical complications, but the prognosis in most cases is one embraced with optimism and hope.