Cystic Fibrosis

Simple and involuntary things, like the functions of our vital organs, are often taken for granted. Things such as breathing clearly, having the ability to reproduce, and being able to easily pass stools are all overlooked and unacknowledged by those without issues preventing the simpleness of such.

For those with cystic fibrosis (CF), on the other hand, these issues are just a few of the many symptoms that they face every single day, as a result of this genetic and, essentially, fatal disease (Mayo Clinic).

The disease is caused by the presence of two mutated copies, meaning one from each parent, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Cystic Fibrosis Foundation). Most of the time, at least one of the two parents is a carrier, as two people with CF should never come in contact with one another due to the bacteria that they carry that is harmful to other patients’ lungs (Cystic Fibrosis Trust).

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An individual with CF may be screened and tested as early as the first month of life, before the presence of any symptoms. In some occurrences, however, parents may be able to detect CF when they kiss their children and detect a salty taste―for high concentrations of salt in sweat are often present in an individual with said disease. Symptoms often worsen with age, or, in some cases, not appear until the teenage years or adulthood. According to Mayo Clinic, “People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas (pancreatitis), infertility and recurring pneumonia.”

Symptoms of cystic fibrosis most commonly occur in the respiratory tract. The cells that produce mucus, sweat, and digestive juices are affected if an individual has the disease. This causes those with CF to have a sticky, thick mucus that clogs the airways leading in and out of the lungs, as opposed to the normal slippery and thin mucus of those without the disease. This mucus results in symptoms such as a constant wet cough of thick mucus, wheezing, intolerance to exercise, common lung infections, inflamed nasal passages, persistent stuffy noses, and recurrent sinusitis.

There are many symptoms affecting the digestive system that stem off of the issue of the aforementioned thick mucus blocking tubes that are necessary to carry digestive enzymes from the pancreas to the small intestine. This results in intestines that aren’t fully able to absorb the nutrients existent in foods we eat. This can cause greasy stools, poor weight gain and growth, intestinal blockage in newborns, and chronic constipation.

These symptoms, especially when checked with a doctor less than once every three months, can lead to complications. The average life expectancy of someone with CF that has lived to adulthood is 44 years old, with lung complications as the most common cause of death (MedlinePlus).

Cystic fibrosis cannot be cured, so it’s important for couples with risks of the disease to be tested before having children.

Works Cited

[1] Cystic Fibrosis Foundation. "CF Genetics: The Basics." Cystic Fibrosis Foundation | CF

Foundation, www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/.

[2] Cystic Fibrosis Trust. "Cross-infection at Events." Cystic Fibrosis Trust - Fighting for a Life

Unlimited, www.cysticfibrosis.org.uk/the-work-we-do/conference-and-meetings/cross

-infection-at-events.

[3] "Cystic Fibrosis: MedlinePlus Medical Encyclopedia." MedlinePlus - Health Information from

the National Library of Medicine, 2 July 2021,medlineplus.gov/ency/article/000107.htm.

[4] Mayo Clinic. "Cystic Fibrosis - Symptoms and Causes." Mayo Clinic, 14 Mar. 2020,

www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700