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Awards |
May
2000 Issue
Howard Johnson (c. 1915)
What is Cystic Fibrosis?
Cystic Fibrosis (CF) is the most common genetic disease that currently affects approximately 30,000 children and young adults in the United States. The incidence of CF is highest in the Caucasian populations, with a rate of 1 in 2,000 live births, compared to 1 in 17,000 for Afro-Americans and 1 in 90,000 for Asians. According to the Cystic Fibrosis Foundation, as many as 1 in 31 Americans are symptomless carriers of the defective CF gene, and every year about 1,000 new cases of CF are diagnosed. CF is presently incurable. A child inherits CF as a result of two defective CF genes, one from each parent.
CF is a disease that most commonly affects the lungs and digestive system (especially the pancreas). It causes the abnormal production of thick sticky mucous that clogs the airways of the lungs, resulting in pulmonary obstructions and life-threatening bacterial infections. The mucus also prevents the pancreas from releasing sufficient amounts of pancreatic enzymes (which aid in digestion) from reaching the bowel, resulting in undernutrition and poor growth. CF also affects the sweat glands, causing excessive levels of salt in sweat.
What are the symptoms?
CF has a variety of symptoms, the most common being:
- Very Salty Tasting Skin
- Persistant coughing or wheezing
- Recurrent respiratory infections, including pneumonia or bronchitis
- Excessive mucous production
- Poor weight gain despite adequate appetite
- Frequents foul smelling stools and chronic diarrhea
Diagnosis
Currently CF is rarely diagnosed at birth, although in Australia CF testing is done routinely in newborns, along with the usual neonatal blood work. CF is typically diagnosed during the early childhood years in young children (eg: before three years of age) who haev had a history of recurrent respiratory infections, steatorrhea (excessive fat in the stools), and/or failure to thrive syndrome. Nearly 8% of people, however, are diagnosed at 18 years or older because they have experienced only mild symptoms of CF. Because one of CF's major symptoms is respiratory infection, a CF diagnosis may be confused with other respiratory infections such as pneumonia, asthma or chronic bronchitis.
The standard diagnostic test for CF is a "sweat test" which measures the amount of salt in a persons sweat. An abnormal sweat test (i.e: high level of salt) is generally what a CF diagnosis is based upon, but the results of a sweat test are not necessarily proof positive of the presence o absence of CF. The presence of chronic obstructive respiratory disease, exocrine pancreatic insufficiency, and /or a positive family history of the disease help confirm the diagnosis.
Current Treatments
Remarkable improvements in the theraputic reatment of CF have evolved in the past decade. For example, pancreatic enzyme replacement therapy is available to facilitate digestion; mucous thinning drugs and aerosol sprays are also available to ease breathing problems; advanced antibiotics are able to treat and prevent respiratory infections; and lung transplants have significantly extended the survival and improved the overall quality of the lives of those who have CF.
The two most common daily CF treatments are:
- Enzyme Replacement Therapy. This therapy replaces the digestive enzymes that the pancreas of a person with CF is unable to excrete.
- Airway Clearance Techniques. Commonly used ACTs include chest physiotherapy/postural drainage (using gravity to drain mucous from all parts of the lungs) huffing and coughing, flutter valve, pep valve, and mechanical percussion vest.
Next month we will touch on things to document, questions to ask your physician as well as what the medical team of a CF patient should consist of. We will also give definitionsof some of the terminology, as well as guide you to some incredible websites that are specifically geared towards CF education and support. Please join us then!
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MaryLee
Tigerlily
Rebel
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