Author: Belinda Lin
Editors: Vincent Chang and Peggy Yang
Artists: Daisy Zheng
Cystic Fibrosis (CF) is a genetic disorder inherited from both parents with defective CF genes. These genes are called cystic fibrosis transmembrane conductance regulator (CFTR) genes. CF is a life-threatening disease that affects the digestive tract and the lung, occurring in more than 200,000 people yearly in the United States. With current medical treatment, patients are estimated to live only around 40 years.
How exactly would identify these disorders?
CF’s unique symptoms: With all the mucus-forming in the nose, patients will experience constant coughing and have problems with exercising, repeated lung infections, and inflammation of the nasal passageway. Digestive signs to look out for are foul-smelling and extreme constipation, which can occur from frequent straining in the stool.
The defective gene, resulting from cystic fibrosis, causes the cells to build mucus that is extremely thick and sticky rather than the normal of which is thin and slippery. This thick buildup of mucus can cause blockages in the airway, resulting in severe breathing problems and lung infections, further resulting in intense coughing and wheezing. In severe cases, it can cause permanent lung damage. For example, cysts will start forming on the lung, which will result in a collapsed lung and respiratory failure over time. Likewise, with the damaged airways and lung infections, there will be times when CF patients cough up blood.
The buildup of mucus can also cause damage to the pancreas: the organ that regulates insulin (controls sugar levels) production and enzyme (controls food digestion) production. Damage to insulin control can lead to diabetes, while damage to digestive enzymes can lead to malnutrition, weight loss, and growth issues. Liver disease can also be a major setback as the bile ducts from the gallbladder to the small intestine can become inflamed or blocked from the mucus.
Another problem with the diagnosis of CF is reproductive infertility. The majority of men are infertile after CF because the tube that connects the testes and the prostate gland is usually blocked or nonexistent. Therefore, it is almost impossible for men with CF to become biological fathers. Women, although chances are low, can still conceive and have successful pregnancies.
Finally, CF patients are at a high risk of osteoporosis. This can cause a dangerous level of thinning in the bones which leads to arthritis or bone impairment. Not only is one’s physical health at risk, but also one’s mental health. Living in a world where there is no cure for this life-threatening disease can take a toll on many patients’ perception of life, leading to mental disorders like depression and anxiety.
“Cystic Fibrosis.” Centers for Disease Control and Prevention, Centers for Disease Control and
Prevention, 18 May 2020, www.cdc.gov/genomics/disease/cystic_fibrosis.htm.
“Cystic Fibrosis.” Genetic and Rare Diseases Information Center, U.S. Department of Health and
Human Services, rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis.