Cystic Fibrosis

Cystic Fibrosis is an inherited disease of a faulty secretory gland (National Institute of Health, 2014). In 1938, Dorothy Andersen of Columbia University performed various autopsies upon children diagnosed with cystic fibrosis. Following on from the tests, Andersen released an in-depth report into the effects of the disease. The report concluded that in most, if not all cases, the pancreas was always ‘destroyed’. Andersen named the disease “cystic fibrosis of the pancreas” (Scientific American, 1995). The faulty gene caused by cystic fibrosis controls the movement of salt and water in and out of body cells, so the lungs and digestive system become clogged with mucus, making it difficult to breathe or digest (Cystic Fibrosis Trust Registered Charity, 2014). It was reported that the incidence of cystic fibrosis in Australia was 1 in 2800 births and about 1 in 25 people were carriers of the genetic mutation (Philip Robinson, 2011). This essay will explore and analyse the various elements of the deadly disease ranging from screening, treatment, and its unfortunate implications upon Jonothan Jackson. 

Cystic Fibrosis can only occur when both parents of a child are carriers of the gene that causes the disease. In Section A of the Appendix, a graph of this process is provided. Carriers generally do not show symptoms of cystic fibrosis however when two carriers conceive a child together, there is a 25% chance that the newborn will have cystic fibrosis. In Section C of the Appendix, a punnet square that represents the figure above is provided. Cystic Fibrosis carrier screening is a genetic test that determines if one has changes to the cystic fibrosis gene. Either a blood or saliva sample is required for the screening. While the screening is optional, the results can be used to make the right decision when attempting to reproduce or thinking about reproducing (Cystic Fibrosis Australia, 2014). After birth, every newborn baby in Australia has the opportunity to undergo screening to identify whether the baby is at risk of any genetic disease. The test is safe and only a few drops of blood are required from the baby’s heel. The benefit of taking this test is early detection. Many disorders can be resolved if diagnosed early and prompt treatment is taken, more information about treatment will be discussed below (Better Health Channel, 2014). 

The signs and symptoms of cystic fibrosis can differ depending on the intensity of the disease. Screening of newborn children is a standard procedure in Australia and all 50 states in the United States of America. The mucus that clogs the lungs and digestive organs can cause a persistent cough, wheezing, breathlessness, lung infections, salty sweat or an inflamed nasal passage. Symptoms of the disease include poor weight gain, intestinal blockage and severe constipation (Mayo Clinic Staff, 2012). Being 30 years old, Jonothan currently may be suffering from various problems and without having treatment for such an extended period, could be detrimental. He potentially may be facing lung damage, lung scarring and poor lung function. (Genetech, 2014) 

Cystic Fibrosis is inherited in an autosomal recessive pattern, which effectively means that both copies of the Cystic Fibrosis Transmembrane Conductance Regulator or CFTR gene in each cell have mutations. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions in and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. The flow of chloride helps control the movement of water in tissues- necessary for the production of mucus (National Institute of Health, 2014).

Unfortunately, cystic fibrosis does not have a cure. However researchers over the past few years have discovered that a number of treatments significantly help in curing cystic fibrosis. Goals in conquering cystic fibrosis include: preventing and controlling lung infections, loosening and removing sticky mucus from the lungs, preventing and treating blockages in the intestines, providing enough nutrition and preventing dehydration. Main treatments for controlling lung infections generally are through physical chest therapy, exercise and medicines. Treatments for digestive problems consist of having a well- balanced diet based around calories, fat and protein (National Institute of Health, 2014). A Brisbane based company with the name of HSK Instruments, has developed a revolutionary product called Pepster to help cystic fibrosis patients with their respiratory physiotherapy. Essentially, the respiratory physiotherapy is completed in a game like environment and the data from the exercises is collected and given to the doctor managing the patient (HSK Instruments, 2014) 

In the case of Mr Jonothan Jackson, it can be viewed in two ways: from the airports view and Mr Jackson and his family.  From the airports point of view, it is clear that a perfectly healthy air traffic controller is a necessity as the role is extremely hands on and requires the utmost of attention due to the intensity of the role. A condition like cystic fibrosis could potentially be detrimental and could cause the killing of hundreds of people travelling around the world as the effects of the disease include coughing up blood sporadically, Pneumothorax (build-up of air between the lungs and the chest wall that causes the lung to collapse) (Healthwise Incorporated, 2013). From Mr Jackson’s view, the financial implications could be catastrophic as cystic fibrosis treatment is expensive and if unemployed, he may not be able to afford the necessary treatment he requires to fight the disease.  

In regards to the question regarding whether his medical condition should be passed on to a future employer. The information should indeed be passed on as his condition significantly affects many of the body’s systems, more notably the lungs and digestive system. If Mr Jackson were to suffer from one of the many physical effects of cystic fibrosis whilst on the job, it could cause significant danger to others. Therefore, it can be justified that if his current employers inform his potential future employers about his medical condition it would be fair. Alternatively, a part time job that allows him to work with flexible hours would be ideal. Jobs that include physical ability would be perfect as physical exercise builds stamina, which stimulates endorphins and improves cardio- fitness (Cystic Fibrosis Australia, 2014). Such jobs include delivering mail and youth and community work (University of Kent, 2012). 

BIBLIOGRAPHY:

WEBSITES: 

National Institute of Health, 2014,What is Cystic Fibrosis?  http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

Cystic Fibrosis Trust Registered Charity, 2014, What is Cystic Fibrosis? http://www.cysticfibrosis.org.uk/about-cf/what-is-cystic-fibrosis

Robinson P, 2011, Cystic Fibrosis in Australia, 2009: results from a data registry, https://www.mja.com.au/journal/2011/195/7/cystic-fibrosis-australia-2009-results-data-registry

World Health Organization, 2014, Genes and human disease, http://www.who.int/genomics/public/geneticdiseases/en/index2.html#CF

Cystic Fibrosis Worldwide, 2014, http://www.cfww.org/about/article/400/What_is_Cystic_Fibrosis 

Cystic Fibrosis Australia, 2014, http://www.cysticfibrosis.org.au/all/learn/ 

Mayo Clinic Staff, 2012, Cystic Fibrosis, http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/symptoms/con-20013731

Better Health Channel, 2014, Newborn Screening, http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Newborn_screening 

Healthwise Incorporated, 2013, Cystic Fibrosis Topic Overview, http://www.webmd.com/children/tc/cystic-fibrosis-topic-overview

Genetech, 2014, Cystic Fibrosis Progression, http://www.pulmozyme.com/understanding/cf-progression.html 

Scientific American, 1995, Cystic Fibrosis, https://www.msu.edu/~luckie/cfarticle.html 

University of Kent, 2012, Careers and Employability Service, http://www.kent.ac.uk/careers/workin/outdoor-careers.htm  

HSK Instruments, 2014, Pepster by HSK Instruments, http://hskinstruments.com/more.html 

VIDEOS:

Khan Academy, 2014, What is Cystic Fibrosis?, https://www.youtube.com/watch?v=ucbxYIVztz8 

2011, What is cystic fibrosis? Animation, https://www.youtube.com/watch?v=FMAOEOmLoUE 

Cystic Fibrosis Foundation, 2014, 2014 Cystic Fibrosis Foundation Video, https://www.youtube.com/watch?v=ORURXnKjCso 

Mauch R, 2013, Cystic Fibrosis Pulmonary Disease, https://www.youtube.com/watch?v=LItSsVJPQEY 

Wineland C, 2014, What is Cystic Fibrosis?, https://www.youtube.com/watch?v=tWWpPAXFEFs 

BOOKS:

Karen Hopkin, 2010, Understanding Cystic Fibrosis.

David M. Orenstein, Jonathan E. Spahr, Daniel J. Weiner, 2012, Cystic Fibrosis- A Guide for Patient and Family. 

Sharon Giddlings, 2009, Cystic Fibrosis

Judy Monroe, 2001, Cystic Fibrosis- Perspectives on Disease and Illness

Ruth Bjorklund, 2008, Cystic Fibrosis

Allison Peebles, Judi Maddison, 2005, Cystic Fibrosis Care: A Practical Guide