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CFIQ Answers
By Michelle Compton
CFIQ ANSWERS
1. CF stands for Cystic Fibrosis, a disease of the exocrine glands. In the US, approximately 30,000 people have CF, and it occurs in approx. 1 in 3,900 live births.
2. Cystic Fibrosis of the pancreas was first described in 1938, by Dr. Dorthea Anderson. At that time, the median age of survival was 6 months.
3. 1989. The gene responsible for cystic fibrosis was first cloned in 1989 by Riordan et al. (Science 245: 1066-1073).
4. Chromasome number 7.
5. CF is a recessive genetic disease. You cannot catch it – it is not contagious. The only way to get cystic fibrosis is to have each parent be a carrier of that gene. If each parent is a cf carrier, then the odds they will have a child with cf (strictly statistically speaking) are 1 in 4, for each pregnancy.
6. Cystic fibrosis transmembrane conductance regulator.
7. Delta F 508 is the most common mutation for CF, accounting for up to 80% of the mutation expressions in CF patients in places like the U.K. and the U.S. To date, more than 500 mutations for cf have been discovered.
8. 1480. [http://www.ncbi.nlm.nih.gov:80/entrez]
9. The sweat test has been the "gold standard" for diagnosing cystic fibrosis (CF) for more than 40 years.
The sweat test determines the amount of chloride in the sweat. There are no needles involved in the procedure. In the first part of the test, a colorless, odorless chemical, known to cause sweating, is applied to a small area on an arm or leg. An electrode is then attached to the arm or leg, which allows the technician to apply a weak electrical current to the area to stimulate sweating. Individuals may feel a tingling sensation in the area, or a feeling of warmth. This part of the procedure lasts approximately five minutes. The second part of the test consists of cleaning the stimulated area and collecting the sweat on a piece of filter paper or gauze or in a plastic coil. Thirty minutes later, the collected sweat is sent to a hospital laboratory for analysis. The entire collection procedure takes approximately one hour.
Children and adults with CF have an increased amount of sodium and chloride (salt) in their sweat. In general, sweat chloride concentrations less than 40 mmol/L are normal (does not have CF); values between 40 to 60 mmol/L are borderline, and sweat chloride concentrations greater than 60 mmol/L are consistent with the diagnosis of CF. For individuals who have CF, the sweat chloride test will be positive from birth. Once a test result is positive, it is always positive. Sweat test values do not change from positive to negative or negative to positive as a person grows older. Sweat test values also do not vary when individuals have colds or other temporary illnesses. [www.cff.org]
Recently developed genetic techniques using DNA analysis can be definitive when positive, but because hundreds of alleles can cause CF, no single genetic test works in all cases. [www.cfri.org]
10 You can be a friend – if you know someone with cf, be a supportive friend. Try and understand some of what their life is like, and listen.
Find out more – visit the rest of Breathing Room, and other websites. Learn what CF is all about. Cystic-l, CFF and CFRI are good places to start.
Spread the word – that’s what CF Awareness Week is all about!
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