Genetic Disease: Cystic Fibrosis

Cystic Fibrosis (CF) is a debilitating genetic disease which is caused by a faulty gene. It affects around 70,000 people around the world. This disease can affect any ethnic group or race, however is most common in Caucasian people (Giddings, 2009). This essay will focus on the symptoms, diagnosis, treatment and the socio-economical importance regarding CF.

CF is caused by a fault within the CFTR gene. In order for someone to suffer from CF they must inherit a faulty gene from both their mother and father. (Gold, Grimes & Lester, 2000)

These gene is responsible for the creation of a protein which controls the movement of salt and water out of a cell. When this gene is faulty thick mucus builds up within different tubes and passages within

These are; sweat testing, antenatal testing and new born testing. During newborn testing blood is taken from a babies’ foot and sent off to a laboratory for testing. Alternatively, babies can be screened whilst they are still in the womb. This is done by a procedure known as chronic villus sampling (CVS). During CVS a fine needle is passed through the mothers stomach or through the cervix in order to retrieve a piece of the placenta. This is then tested in the laboratory to check for the abnormal gene. ( '277 Cystic Fibrosis in adults ', 2005) Finally the most commonly used diagnostic technique is the sweat test. The sweat test consists of a very weak electrical current being applied to the skin and a sample of the sweat produced is taken which is tested for the amount of salt with in this fluid. This is done because people with CF have abnormally high amounts of salt in their bodies hence when kissed they can taste salty. (Allen, Panitch & Rubenstein,

Specifically, it can have a massive impact on the economic status of the parent of someone with CF, they may be required to give up work and rely on the welfare system in order to finance the high cost having a child with CF causes. Socially either the parent or sufferer of someone with CF can become isolated due to the unpredictable nature of the disease, for instance a child with CF may be required to spend lots of time in hospital having a negative impact on relationships developed through school or work. Economically this disease can cost both the NHS and the patients a great deal of money, many people with CF are on pancreatic enzyme therapy which are costly. Hospital stays also further puts pressure on the NHS and the family. (Bobadilla, Macek, Fine & Farrell, 2002) In terms of socio-economic status, it has been found children and adults from a lower socio-economic status have higher rates of complications and further ill health. Research conducted in the USA has suggested that these people have a 3.65 times higher levels of mortality than those in a higher socio-economic status. (SCHECHTER, SHELTON, MARGOLIS & FITZSIMMONS,