Thesis: Cystic Fibrosis and Finding a Cure

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Cystic Fibrosis and finding a cure

An Overview of Cystic Fibrosis and Efforts to Identify a Cure

One of the more challenging disorders identified in the 20th century is cystic fibrosis, with the cause of the disease only being discovered relatively recently. Although improved multifaceted healthcare interventions have allowed many cystic fibrosis sufferers to live much longer than even a few years ago, life expectancies for people with this condition remain far lower than the population at large and the condition itself detracts from the quality of life in a number of ways for the sufferer and family members alike. Unfortunately, a cure for cystic fibrosis remains elusive and many people who suffer from the disease will still succumb to the cumulative effects of repeated infections over time. To determine what progress is being made in this area, this paper provides an overview of cystic fibrosis, including its cause, symptoms and current treatment protocols. A discussion of what types of current research initiatives are underway to identify new treatment interventions is followed by a summary of the research and salient findings in the conclusion.

Review and Discussion

Background and Overview.

Cystic fibrosis was first identified as a specific disorder in 1938; however, the precise cause for the disorder remained unknown until the cystic fibrosis (CF) gene was identified in 1989 (Schubert & Murphy, 2005). According to Schubert and Murphy, "Mutations in this gene lead to the defective production of a salt-regulating protein known as the CF transmembrane conductance regulator. As a result, chloride ions and water cannot flow properly through cell membranes, leading to the production of thick, sticky mucus" (p. 35). The disease affects a number of bodily organs, but tends to do the majority of damage to the lungs and pancreas; as a result, the most debilitating aspects of the disease involve difficulties in breathing because of effects on the pulmonary system and, for about 90% of those with CF, difficulty in digestion because of effects on the pancreas (Schubert & Murphy).

The typical respiratory symptoms related to cystic fibrosis include coughing, the production of thick sputum and associated decreased pulmonary function, congestion, and shortness of breath; in addition, the concentration of mucus restricts the oxygenation process of the blood, thereby placing additional stress on the heart and other organs which frequently results in clubbing of the fingers and toes (Schubert & Murphy). Indeed, as Reid (1996) emphasizes, "The major problem of cystic fibrosis, the number one genetic killer disease of children in the United States, is that the body overproduces thick, sticky mucus. The mucus blocks the pancreatic ducts, which impedes the flow of the pancreatic juices from the pancreas into the duodenum of the small intestines. Food cannot be properly digested. Without treatment, children with cystic fibrosis suffer from malnutrition and constant diarrhea" (p. 27). Moreover, CF patients tend to experience cycles of infection and inflammation of increasing frequency and severity as the result of an inability to clear mucus from their lungs, as well as the cumulative effects of the scarring of the lungs themselves and the majority of CF fatalities are the result of opportunistic infections (Schubert & Murphy).

Cystic fibrosis is an autosomal (e.g., a chromosome that is not a sex chromosome) recessive disease that occurs in about one in 3,400 live births among Caucasians; however, its incidence is less among people of other backgrounds (about one in 30 whites and one in 60 blacks are carriers) (Wilfond, 1995). One of the more challenging aspects of managing the disease is the fact that carriers can be asymptomatic and will probably not have a known family history for the disease; in those cases where there are two asymptomatic parents involved, they have a 25% chance with each pregnancy of having a child with cystic fibrosis (Wilfond).

According to Wilfond (1995), "Cystic fibrosis is caused by a defective protein that results in thickened secretions in the respiratory, digestive, and reproductive systems. People with the disease often have trouble digesting food and may be malnourished, are commonly infertile, and over time, have recurrent lung infections that cause gradual deterioration of lung function" (p. 21). Based on their difficulties in digest foods, Reid reports that some cystic fibrosis patients are prescribed enzyme preparations that can help mitigate the disease's effects on the pancreas. In this regard, Reid reports, "Pancreatic juices contain enzymes for digesting all three major food types (proteins, carbohydrates and fats), as well as quantities of bicarbonate ions, which play an important role in neutralizing the acid emptied by the stomach into the duodenum" (p. 28). The addition of these bicarbonate ions helps cystic fibrosis patients metabolize ingested food more normally, as well as serving to neutralize large accumulations of stomach acid (Reid).

As the result of improved medical care, though, people who suffer from cystic fibrosis are managing to overcome the more deleterious effects of the disease and live longer than in years past (Wilfond). Indeed, just 30 years ago, the median survival age for those with cystic fibrosis was 18 years, by 1990 it was 28 years and using current treatment techniques can help some sufferers born with cystic fibrosis live well into their 50s (Wilfond). Despite this progress, Schubert and Murphy (2005) report that by and large, the life expectancy for sufferers of cystic fibrosis remains woefully short of the normal life expectancy for the population at large. According to these authors, "The first sizeable cohort of people living with cystic fibrosis (CF) has now reached adulthood. Gradual improvements in the diagnosis and treatment of the disease have increased life expectancy to approximately 32 years. Members of this cohort have lived all their lives near, at, or slightly beyond life expectancy" (p. 35). Rather than a cure for cystic fibrosis, these gains in life expectancy and quality of life have been accomplished only through various treatment interventions aimed at minimizing the adverse effects of the disease on bodily organs, and these issues are discussed further below.

Treatments for Cystic Fibrosis.

While progress has been made in treating the symptoms of cystic fibrosis and the quality of life of its sufferers, an across-the-board cure remains a distant dream for researchers today. As Goozner (2004) emphasizes, "Scientists are no closer to a treatment for cystic fibrosis today than they were in 1991, when the gene responsible for the condition was first identified" (p. 250). In reality, cystic fibrosis is not alone in this regard. According to Drotar (2000), "There are few, if any, cures for chronic illnesses and disorders. The emphasis shifts toward controlling rather than curing the disorder. The disease can have an impact on many facets of a family's life [such as] such as providing daily medications and physiotherapy to a child with cystic fibrosis" (p. 98). Viewed from this perspective, families with a CF patient will be required to devote significant amounts of time and effort to the provision of labor-intensive treatments that will undoubtedly affect the quality of life the rest of the family. In this regard, Drotar emphasizes that, "Treatments typically involve aerosolized medications and chest physical therapy (CPT) or some other form of airway clearance, increased calorie intake, and replacement enzymes with each meal and snack. Thus, CF imposes extensive treatment demands on patients and their families that can affect every aspect of daily life, including recreation time, family interactions, and peer relationships" (p. 384).

The few effective treatments for the symptoms of cystic fibrosis that do exist require a multidisciplinary approach that involves a healthcare team besides the family. For instance, Schubert and Murphy report that, "For the lungs and pulmonary system there is a variety of chest physical therapies, antibiotics, aerosols designed to break up and loosen sputum, and isolation from others with pulmonary infections" (p. 36). Other treatments protocols are also used to address the cumulative effects of cystic fibrosis, some of them highly aggressive. For example, more recently, clinicians have resorted to an increased use of lung transplants for some cystic fibrosis patients who experience severe lung damage; in addition, researchers continue to investigate gene-replacement therapies in a search for a cure for CF (Schubert & Murphy). Nevertheless, research into gene-replacement therapies for cystic fibrosis is viewed by some clinicians as being a poor substitute for less expensive and accessible approaches. In this regard, Levinson and Reiss (2003) emphasize that, "Contrary to popular belief, gene therapy is not really about correcting a faulty gene. Instead, if successful these therapies are likely to have limited and variable effects [and] might have to be readministered at regular intervals and used in combination with other therapies" (p. 116).

Because resources are by definition scarce, the relatively small incidence of this disease compared to others that might benefit from gene-replacement therapies makes CF an unlikely candidate for this type of treatment in the foreseeable future based on its limited applications and high costs. For instance, Levinson and Reiss add that, "Although rarely discussed, gene therapy is also likely to be expensive, particularly for diseases like CF that have… [END OF PREVIEW]

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