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A Breath of Fresh Air:Advancements in the care and treatment of Cystic Fibrosis

By: Laura Grumbach

Out of the thousands of genes held within our chromosomes, it is hard to believe a flaw in just one has the ability to radically alter the life of an individual. With cystic fibrosis, this is truly the case. Twenty-nine year old Katie Smith, diagnosed with the disease at the age of 5, begins her daily routine by taking two medications through a nebulizer along with pills that she takes three times a day, adding up to a total of fifty pills. She then must force herself to cough up any mucus build-up that may have occurred during the night. In the evenings, she again must use nebulizers and physiotherapy, to help keep her lungs clear of mucus. This is just a brief glimpse of the treatment necessary to live a relatively normal life with cystic fibrosis. So much of what Katie Smith does is affected by the disease that even she, herself, has been shaped by her condition. She simply states, “I've never taken the small things in life seriously and I am not easily offended or jealous.” This is especially not surprising considering the psychological effects that often accompany incurable diseases. And to think, all of this caused by a single faulty gene.

Considered to be an inherited chronic disease, cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Because this is a hereditary disease, two copies of the gene must be present for cystic fibrosis to develop, one passed down from each parent. The most predominant effect of the disease is defectiveness of the secretory glands that results in an accumulation of mucus within the lungs. This in turn creates difficulty in breathing as airways are often clogged with the sticky fluid. The continuous buildup of mucus spurs considerable bacterial growth making lung infections probable. Patients also experience a persistent cough, nutrient imbalance, exhaustion, and irregularity in bowel movements, all of which drastically affect the length and quality of their lives (National Heart, Blood, and Lung Institute). Male infertility, inflammation of the pancreas, and the possibility of diabetes also accompany the disease later in life (PubMed Health). As functioning of the lungs steadily decreases respiratory failure results in patients’ deaths. Known to affect “30,000 children and adults in the United States,” cystic fibrosis patients are today estimated to live to their thirties. Although this is a drastic increase from the 1950s, during which children diagnosed were expected to live no longer than their elementary years, this remains the most common lethal autosomal recessive disease today for which there is no cure (Cystic Fibrosis Foundation).

Although those with the disease may show no physical indication of their illness day-to-day life is vastly different from those unaffected. Those living with the disease must endure rigorous exercise and physical therapy to loosen the mucus pervading their bodies along with the daily intake of numerous drugs. What some find to be the most exasperating measure is the intense physical therapy which entails a twice daily beating of the ribcage lasting between 30 minutes and an hour to clear the lungs to dislodge the phlegm.” Other minor adjustments to daily life such as not leaving hair wet and avoiding certain fruits, both of which decrease mucus production, are just few of the many alterations needed in living with the disease. Patient Katie Smith describes how advancements in drugs and treatment have increased her ability to bear the disease: “Techniques have developed rapidly in the past two decades. Medication is more tailored to the individual; physiotherapy is more sophisticated and intensive.” But because of the quantity and frequency to which drugs and medications are taken “the development of resistance to antibiotics occurs frequently,” making the search for a cure all the more challenging (Hoiby). Although a few of the ways in which discomfort and pain can be alleviated have been mentioned several others are: medications, manual techniques to help clear the airways, and proper nutrition with added antioxidants (Cystic Fibrosis Foundation). With all phenomena of the human body, each case of cystic fibrosis varies and thus the treatment required may also. Most often treatment is consistent and quite extensive, requiring all of the aspects listed above, making adherence to a treatment routine difficult.

Those at advanced stages of the diseases may consider lung transplantation. While undergoing lung transplantation is considered to be a high-risk surgical procedure because of the invasiveness there has been an increase in recent years with 80 percent alive 1 year after transplantation and over 50 percent alive after 5 years (Cystic Fibrosis Foundation). Because cystic fibrosis is not exclusive to the lungs other organs remain affected, including the pancreas, liver, intestines, and reproductive tract.

After having discovered the CFTR gene in 1989, scientists had quickly begun working to replace the defective gene with the correct gene by engineering viruses to carry it to the body’s tissues and thus begin replication (Rowe, Clancy, Sorscher). However by the 1990s, it was concluded that a new treatment would needed to be found as numerous complications arose with the virus. Researchers then further studied the protein and its’ functions in order to understand how defects led to the disease. Although few researchers and biologists continue to believe that replacement of the gene is the answer the more effective solution has been finding a drug that allows “the deficient protein to work better” (Rowe, Clancy, Sorscher). According to the recent article in Scientific American, A Breath of Fresh Air, the development of such drugs has been gradual but seems promising. The authors note that the difference in what’s being done now as opposed to the past is how these medications target the root of the disease rather than just relieve the symptoms. Furthermore, what’s also significant is that these “new treatments may also work against other, more common conditions, such as bronchitis, chronic sinusitis and pancreatitis, among others” (Rowe, Clancy, Sorscher). Perhaps the most promising of these is the compound VX-770. Formulated to counteract the G551D mutation, VX-770 increases the function of the protein produced by CFTR by 50%. In trials, patients saw “improvements in lung function and nutrition as well as demonstrating a partial correction of the electrolyte imbalance at the cellular level” (Masel). The approval of the drug by the Food and Drug Administration could possibly change the lives of the thousands currently struggling to cope with cystic fibrosis. Unfortunately VX-770 would only be effective with those who have the specific G551D mutation, one of several mutations of the CFTR protein.

For those like Katie Smith living with Cystic Fibrosis is a daily battle in which they must fight for our most basic function: breathing. The great toll this takes on the body eventually leads to a surrender of the lungs. With the prospect of VX-770 on the horizon, those with cystic fibrosis will finally be able to take a deep breath in knowing their lungs are clearer than they ever were before meaning more time enjoying life with those around them.

References:

1. Cystic Fibrosis Foundation. CFF, 14 Feb 2012. Web. 4 Apr 2013. <http://www.cff.org/>.

2. “Cystic Fibrosis.” PubMed Health. National Library of Medicine, 16 May 2012. Web. 4 Apr 2013. <http://www.ncbi.nlm.nih.gov.ezproxy.umw.edu/pubmedhealth/PMH0001167/>.

3. Hoiby, Niels. “Understanding bacterial biofilms in patients with cystic fibrosis: current and innovative approaches to potential therapies.” Journal of Cystic Fibrosis. 1.4 (2002): 249-545. Print.

4. Kate, Smith. “Living with cystic fibrosis: My life expectancy is 31. I'm 29. So that's two 4years of parties, extreme sports and romance….” Mail Online. Associated Newspapers Ltd, 23 Feb 2008. Web. 4 Apr 2013. <http://www.dailymail.co.uk/femail/article-517754/Living-cystic-fibrosis-My-life-expectancy-31-Im-29-So-thats-years-parties-extreme-sports-romance-.html>.

5. Masel, Philip. “Management Of Cystic Fibrosis In Adults.” Australian Prescriber 35.4 (2012): 118-121. Academic Search Complete. Web. 4 Apr. 2013.

6. Rowe, Steven M., J. P. Clancy, and Eric J. Sorscher. “A Breath Of Fresh Air.” Scientific American 305.2 (2011): 68-73. Academic Search Complete. Web. 4 Apr. 2013.

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