Cystic Fibrosis -Fyzah Shaukat

Fyzah Shaukat                          

                                                                      Cystic Fibrosis

        The Genetic disorder I will be discussing about today is called Cystic Fibrosis. What is Cystic Fibrosis? Cystic Fibrosis is a hereditary (parents to offspring) disorder, affecting the exocrine glands. What this disorder causes is the production of abnormally thick mucus leading to the blockage of the pancreatic ducts, intestines and bronchi. It often results in an respiratory infection. The reason why this is considered as a disorder is mucus is a substance made by tissues that line some organs and body cavities like the lungs and nose. This is considered normal due to it keeping our organs moist and preventing it from drying out and getting infected. What Cystic Fibrosis (CF) does it that it makes the mucus become thick and sticks, causing it to build up and block your airways. The Cystic fibrosis transmembrane conductance regulator are the chromosomes responsible for the protein functions, as a channel it crosses the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. 

       It occurs by the transport of chloride ions in this CFTR control the movement of the water and the fluids which if transported and produced normally creates thin liquid, if the transportation does not produce the regular thin liquid then thick sticky mucus is produced causing Cystic Fibrosis to occur. This bodily disorder tends to take root in children and young adults much more than adults, when talking about this disorder just in general there is common disorder amongst Central and Northern European counties, but occurs in many demographic groups around the world. 

        In modern technology there is almost nothing science hasn't been able to build and use for health purposes. There are several ways Cystic Fibrosis can be detected and diagnosed, there is a total of 5 different ways doctors can test to see whether someone might be a carrier of this disorder. The 5 different ways are: Newborn screening, Sweat test, Prenatal screening, Cystic Fibrosis carrier testing and others.

        Cystic Fibrosis signs and symptoms vary, depending on things such as the severity of the case and each and every individual. Symptoms may worsen or improve as time passes, In some children symptoms being during infancy. Whereas other people may not experience the disorders properties until adolescence or adulthood. But even so, some common symptoms that occur internally are: Persistent coughs that produces thick spit and mucus, wheezing, breathlessness, decreased ability to exercise, repeated lung infections, inflamed nasal passages or a stuff nose. Other symptoms can be poor weight gain and growth, intestinal blockage, and severe constipation. It is extremely diffucilt to come to a consensus of the average life expentency of someone who carries the Cystic Fibrosis disorder in their genes, the life span of someone carrying this disorder can vary based on many factors. Aspects such as age of disorder, and severity of disease can make a big difference but even so according to the most recent Patient Registry data, the median predicted age of people carrying the disease is their early 40's. 

        Treating Cystic Fibrosis is not a simple task, it is a very complex treatment due to having to treat the disorder in different places of your body, mainly the lungs and digestive system. Because the type and severity of CF symptoms can differ widely from person to person, there is no  typical treatment plan for people with the disease. Since there is no actual final treatment, people carrying the disease do day-to-day airway clearances, and take inhaled medicines.

        When talking about ethical issues, Cystic Fibrosis does concern the public due to millions of people dying in their early 30's and 40's. There is something called Population based screening. It implies offering a program of carrier testing, with consent and genetic counselling. The purpose of such screening would be to allow people to make informed reproductive decisions with regard to the risk of Cystic Fibrosis in their offspring.

        In my opinion, Cystic Fibrosis is a very tragic and yet somehow common disorder, though millions of people die in their early stages of life due to this I feel the disorder is not given the attention is deserves. I feel if we paid more attention and had much more extensive research done this disease would deteriorate soon enough. Science has helped us create medicine, and new technology detect and treat disorders and diseases. I feel if we give the same amount of attention to Cystic Fibrosis as we do to for example Cancer, we would be able to save the lives of many children and young adults. In Your opinion, after reading this article do you think we undermine this disorder? Do you think we are providing enough of our energy and time into this disorder as we are for cancer?.

 

        

        

List of references (websites):

http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

http://ghr.nlm.nih.gov/gene/CFTR

http://en.wikipedia.org/wiki/Cystic_fibrosis

http://www.nlm.nih.gov/medlineplus/tutorials/cysticfibrosis/id289105.pdf

http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/symptoms/con-20013731

https://www.genome.gov/10001755

List of references (Images):

http://discovermagazine.com/~/media/Images/Issues/2013/September/a-look-inside-cystic-fibrosis.jpg

http://en.wikipedia.org/wiki/Cystic_fibrosis

That's it for now guys!