Am I at risk? What can I do?

Who is at risk for CF?

Cystic Fibrosis is a genetic disease that is passed on from the genes of both parents to the offspring (What Is Cystic Fibrosis? What Causes Cystic Fibrosis, 2009). In order to have CF, a child must inherit one copy of the defective CF gene from each parent. Each time a couple is both carriers of the CF gene, there is a 50% chance that their child will not have CF, but will be a carrier of the CF gene. There is both a 25% chance of the child acquiring the CF gene or the child not being a carrier or having CF gene, as can be seen in figure 3.

Figure 3. A Punnets square can be used as a visual representation to an expecting couple on the probability of their child contracting or carrying the defective CF gene. (www.cff.org)

There is very little an individual can do to prevent this disease since CF is a hereditary disease that is commonly diagnosed at birth. However, couples can undergo genetic carrier testing in which a blood sample is taken to detect CF carriers. It is a good idea for couples to take this blood test because more than 10 million Americans are asymptomatic carriers of CF and unknowingly pass this defective gene onto their offspring. CF is most prevalent among Caucasians, especially those of Mediterranean descent (What Is Cystic Fibrosis? What Causes Cystic Fibrosis, 2009). In the 1990’s, scientists collected genetic samples from 15 different European countries in order to trace the molecular origin and evolution of CF (Angier, 1994). They found that the mutation responsible for CF appeared midway through the Stone Age in Europe, which helped epidemiologists to understand the prevalence of CF among those of European descent (Angier, 1994). 

But there is hope!

There is unfortunately no cure for CF, but treatments have greatly increased in efficacy over the past several years as scientists have gained more resources and knowledge about this disease. CF patients can improve their quality of life through strengthening exercises, proper nutrition, and aggressive antibiotics that prevent the development of infections (Alton et al., 2013). Since antibiotics are taken daily, it is possible for the infection-causing bacteria to become resistant to some drugs, so the dosage and length of time must be strictly monitored by a doctor. Many drugs, such as, anti-inflammatories and mucus thinners, also work to keep the patient’s airways free of thick mucus so they can breathe easier. People with CF usually do airway clearance techniques (ACT) to get rid of the layers of mucus that cover their lungs. Most ACT’s are designed as vibrating vests that loosen the mucus in the lungs so it can be coughed out, thus clearing the airways. If a patient’s lung function is extremely low, a doctor may recommend a lung transplant. However, a lung transplant is not always effective because a patient may not survive long enough to receive a donor’s lungs or their body might reject their new lungs after surgery. Gene therapies, in which a mutated CFTR gene can be replaced by a healthy CFTR gene, are being vigorously studied by scientists and show great therapeutic potential. I believe there must be multiple successful clinical trials before gene therapy can be a universal treatment for CF because it has had some adverse effects on patients. However, it is in my opinion that gene therapy is the future of CF since it has the ability to cure defected cells. CF treatment has increased significantly in the past few decades and I believe these techniques do a good job in keeping CF patients relatively healthy (Alton et al., 2013). In the 1950’s, many children with CF passed away before attending elementary school, but today the average person living with CF can live into their 40’s because there are more healthcare professionals that specialize in CF treatment and 115 care centers that provide expert care and resources (“History of cystic fibrosis,” n.d.). I am confident with the help of modern technology and dedicated doctors, that patients with CF will live long lives and die of old age rather than infections from having CF. 

Figure 4. This vest is an airway clearance technique (ACT) that vibrates to loosen up mucus so it can be cleared out of the lungs. (http://www.hill-rom.co.uk/uk/United-Kingdom/Products/Airway-Clearance/The-Vest/)

Works Cited 

ALTON, E. W. F. W., DAVIES, J. C., GRIESENBACH, U., HYDE, S., GILL, D., DAVIES, L., ... & INNES, A. (2013). WIPO Patent No. 2013061091. Geneva, Switzerland: World Intellectual Property Organization. 

Angier, N. (1994, June 1). Cause of cystic fibrosis is traced to the stone age. The New York Times.

History of cystic fibrosis. (n.d.). - Cystic Fibrosis Trust. Retrieved January 19, 2014, from https://www.cysticfibrosis.org.uk/about-cf/what-is-cystic-fibrosis/history-of-cf.aspx

What Is Cystic Fibrosis? What Causes Cystic Fibrosis. (2009, April 28). Medical News Today. Retrieved January 20, 2014, from http://www.medicalnewstoday.com/articles/147960.php