About 10 million Americans are Carriers of Cystic Fibrosis: Are You One of Them?

​Cystic fibrosis, or CF, is a chronic genetic disorder that affects how the body creates its secretions. For example, while mucus is supposed to be thin and slippery, those afflicted with CF will have mucus that is thick and viscous. CF mucus can clog airways and reduce the flow of airflow in the lungs, which is why CF is commonly associated with severe lung damage. However, CF also affects other secretions in the body as well, such as sweat and digestive juices. As a result, this disorder is detrimental to numerous organs in the human body, which include the pancreas, skin, liver and intestine.
 
The primary cause of cystic fibrosis is a mutation in the CFTR gene, or the cystic fibrosis transmembrane conductance regulator. This gene controls how the different fluids in the body are produced and controls the flow of salt as well. With this mutation, the gene no longer functions properly and thus causes cystic fibrosis. Cystic fibrosis works in an autosomal recessive pattern, so two copies of this mutated gene must be inherited for one to be affected. If one inherits one copy, they will become a carrier of the disorder. A carrier of cystic fibrosis is one who suffers no symptoms but may pass the disorder onto their offspring. Interestingly, those with cystic fibrosis have varying severity of the disorder. Some may have a severe form of the condition while others may have milder versions. This could be due to other genetic factors from mutations other than the ones in the CFTR gene. 

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Author

Maddy Shin
​Outbreak!2020

As a chronic disorder, those with cystic fibrosis must live with it for their entire lives. The burden of the condition can be eased through early treatment with the right diagnosis. With the help of a sweat test, blood test or DNA test, many can be diagnosed right at birth. Others may be diagnosed in their adolescence years or even at adulthood if they were never screened for CF. While there is no cure for this condition, medication and other forms of treatment can alleviate the symptoms. Cystic fibrosis may lead to coughing, breathing problems, salty skin, intestinal blockage, dehydration, nasal congestion, chronic infections from other diseases, poor growth, weight loss, liver disease, osteoporosis and possibly diabetes. Medication like antibiotics, anti-inflammatory medicine, oral pancreatic enzymes, and more can help to treat these ailments. There are recent developments of medication that target the CFTR gene. These include Trikafta, Symdeko, Orkambi and Kalydeco. Other forms of treatment are airway clearance techniques, pulmonary rehabilitation, surgical procedures, and more.
As a genetic disorder that can severely impact one’s life negatively, it is important that the carriers of CF know who they are. The probability of a child with CF between two carriers of cystic fibrosis is 25%, or 1 in 4. The probability that the child will be a carrier is 50%, or 1 in 2. Currently, there are 10 million Americans who are carriers of this condition. It would be heavily beneficial to check one’s family history or at the very most, get checked to make certain that one is not a carrier of CF. For poorer or isolated communities that did not have opportunity for CF screening at birth, this would be ideal. More affluent communities can help to spread awareness to others about how the genetics of this disease works. As of today, this is the most common autosomal recessive disorder among Caucasians, and this group is at the most risk for cystic fibrosis. Nonetheless, all other ethnicities are at risk for cystic fibrosis, but the occurrence of cystic fibrosis is at a lesser rate among them.
 
While many diseases are preventable, genetic diseases are unfortunately one of the few that are unavoidable. Luckily, those with cystic fibrosis can now live to their 50s and 60s when before the 1980s, most did not survive to their 20s. For me, I personally do not have any impact from cystic fibrosis, but there are people in my community and neighboring ones that unfortunately have this condition. I was quite interested in cystic fibrosis because there has been much work done on this condition, so this could be one of the few genetic diseases where we could see a breakthrough soon. As we start to modify genes and understand them better, we could even fix the mutations of a patient’s CFTR gene. I hope that one day I will be able to look back at this blog post and be able to tell myself that a cure for cystic fibrosis has been found.
  
Works Cited
“About Cystic Fibrosis.” CF Foundation, www.cff.org/What-is-CF/About-Cystic-Fibrosis/.
“Cystic Fibrosis (CF): Symptoms, Causes, Diagnosis, Treatment.” WebMD, WebMD, 12 Dec. 2019, www.webmd.com/children/what-is-cystic-fibrosis#1.
“Cystic Fibrosis.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 14 Mar. 2020, www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.
“Cystic Fibrosis - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/cystic-fibrosis.
Pietrangelo, Ann. “Fast Facts About Cystic Fibrosis.” Healthline, Healthline Media, 17 Dec. 2060, www.healthline.com/health/cystic-fibrosis-facts.