Cystic Fibrosis in a 20-Year-Old Female Patient

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Table of Contents

Introduction
Background Information
Case Presentation
Discussion
Management and Outcome
Conclusion
References

Introduction

Cystic fibrosis results from an inherited genetic dysfunction. This disease is difficult to treat because its causes lie deep in the genetic code of its victim, pervading each of their cells (Ashely, 2012). The genetic mutation often disrupts the transport of chloride ions in exocrine glands (Ashely, 2012). These defects result in thickened glandular secretions and a broad range of complications. As genetic discoveries increase knowledge of genetics and health and as a number of genetic tests and treatments grow, genetic counseling has expanded into other clinical settings such as managed healthcare organizations, commercial facilities, and private practices (Ashely, 2012). Owing to its biochemical complexity, cystic fibrosis is extremely difficult to treat. Like many other genetic disorders, cystic fibrosis continues to puzzle scientists (Ashely, 2012). Cystic fibrosis was once among the diseases which cause high mortality in early childhood. Treatment for cystic fibrosis is currently directed toward managing pulmonary malfunction and infection and improving nutrition. Identifying the gene mutations for cystic fibrosis gives hope that the basic physiological problems that cause the condition will soon be better understood on a molecular level, and thus paving the way for successful pharmacological interventions to correct the gene abnormality (Song, Hilda, & Yoon, 2102). Gene therapy is currently being investigated for cystic fibrosis. The treatment of cystic fibrosis using gene therapy requires consultations and counseling prior to the commencement of the therapy. Genetic counseling encompasses human genetics, respect for sensitivities, attitudes and reactions of patients, and a desire to teach the truth to the fullest extent (Song, Hilda, & Yoon, 2102). Genetic counseling gives individuals and families an opportunity to acquaint themselves with basic information, which will guide them to make informed decisions (Song, Hilda, & Yoon, 2102). As genetic discoveries increase knowledge of genetics and health and as a number of genetic tests and treatments grow, genetic counseling has expanded into other clinical settings such as managed healthcare organizations, commercial facilities, and private practices. Primary care providers, including nurses, will therefore participate in genetic counseling. This paper examines Miss Shannon’s case; a female who has cystic fibrosis and is considering going for gene therapy and raising a family.

Background Information

Cystic fibrosis “is one of the most common and lethal genetic diseases affecting 1 out of every 3,500 white children born each year in the United States and 1 in 12,000 non-white children” (Ashely, 2012, p.29). In addition, “30, 0000 children and adults in the United States suffer from cystic fibrosis” (Ashely, 2012, p.29). Cystic fibrosis often manifests itself during early childhood, and it significantly hampers the affected individual’s ability to breathe and digest food. Generally, affected children have salty skins. Other early signs include “persistent coughing, often with a large amount of mucus, and wheezing and shortness of breath” (Ashely, 2012, p.33).

Owing to its biochemical complexity, cystic fibrosis is extremely difficult to treat. Cystic fibrosis was once among the diseases which cause high mortality in early childhood. However, advancements in the treatment regimes of this disease have increased the life expectancy of affected individuals. Current treatment regimes not only increase patients’ life expectancy but also permit such patients to have children of their own. With the advent of gene therapy, experts believe that a perfect treatment regime for cystic fibrosis will soon be unveiled. Gene therapy endeavors to identify and replace defective genes. With infectious diseases, the enemy is a germ, an alien invader that can often be killed by drugs, however, with genetic diseases, the enemy is a flaw that exists within the body itself, in its genetic code, and has existed within the individual’s body since the moment of conception (Ashely, 2012).

Case Presentation

Miss Shannon, a 20-year-old woman, has received a diagnosis of cystic fibrosis. During an office visit, she tells the nurse that she has been talking with her specialist about gene therapy. Her specialist suggested that she consider being a participant in a current research trial. Ms. Shannon asks the nurse, “What do you think I should do?” She tells the nurse that she has a boyfriend and that she and her boyfriend are considering marriage and a family. They would like to gain more information about the chances that their children will have cystic fibrosis. Ms. Shannon tells the nurse that her boyfriend is eager to know more about the disease and wonders when he can obtain the best information.

Discussion

Treatment for cystic fibrosis is currently directed toward managing pulmonary malfunction and infection and improving nutrition. Identifying the gene mutations for cystic fibrosis gives hope that the basic physiological problems that cause the condition will soon be better understood on a molecular level, and thus paving the way for successful pharmacological interventions to correct the gene abnormality (Song, Hilda, & Yoon, 2102). Gene therapy is currently being investigated for cystic fibrosis. The treatment of cystic fibrosis using gene therapy requires consultations and counseling prior to the commencement of the therapy. The nurse could respond to Miss Shannon’s questions about gene therapy by explaining that there is indeed a possible treatment for patients with cystic fibrosis that is available on a research basis.

The nurse then suggests that the best way for Miss Shannon to decide whether to participate in the research study or not is to obtain more information about its risks, benefits and limitations. This information can be reviewed with Miss Shannon by the healthcare team at the research facility. Information on current research can be found through the cystic fibrosis foundation. The nurse should encourage Miss Shannon to discuss her concerns and feelings about the research study with her specialist and with her boyfriend. The nurse should provide information about reproductive choices and support to Miss Shannon and her partner, explaining carrier testing and prenatal diagnosis for cystic fibrosis, and request Miss Shannon and her boyfriend to make the decision collectively. In this case, Miss Shannon’s chances of having children with cystic fibrosis are high owing to the fact that she is already carrying the defective genes responsible for the development of the disease. The nurse should also offer Miss Shannon and her boyfriend a referral for a genetic counseling clinic because the specialists at the genetic counseling center are well equipped. The nurse needs to take into consideration the patient’s beliefs, values and experiences with regard to genetic conditions. Once Miss Shannon and her boyfriend receive the genetic counseling, they will be in a better position to plan for their family. Shannon and her boyfriend will be able to gauge the risk of bearing children.

Management and Outcome

Gene therapy, as mentioned earlier is still under investigation. It involves the identification and replacement of the defective. Before undergoing this therapy, the patient should have the proper information. Genetic counseling provides individuals with vital genetic information, which is essential in planning their current and future reproductive health needs (Song, Hilda, & Yoon, 2102). “Genetic counseling encompasses the human genetics, respect for sensitivities, attitudes and reactions of patients, and a desire to teach the truth to the fullest extent” (Song, Hilda, & Yoon, 2102, p.133). Genetic counseling gives individuals and families an opportunity to acquaint themselves with basic information, which will guide them to make informed decisions (Song, Hilda, & Yoon, 2102).

Genetic counseling has traditionally been provided in regional genetic centers, medical centers, and community-based hospitals in outreach and public health clinics. As genetic discoveries increase knowledge of genetics and health and as a number of genetic tests and treatments grow, genetic counseling has expanded into other clinical settings such as managed healthcare organizations, commercial facilities, and private practices. Primary care providers, including nurses, will therefore participate in genetic counseling.

Conclusion

This paper has noted that Cystic fibrosis is a challenging genetic disease, which results from an inherited genetic dysfunction. This disease is difficult to treat because its causes lie deep in the genetic code of its victim, pervading each of their cells. The genetic mutation often disrupts the transport of chloride ions in exocrine glands. These defects result in thickened glandular secretions and a broad range of complications. With infectious diseases, the enemy is a germ, an alien invader that can often be killed by drugs, however, with genetic diseases, the enemy is a flaw that exists within the body itself, in its genetic code, and has existed within the individual’s body since the moment of conception.

The treatment of cystic fibrosis using gene therapy requires consultations and counseling prior to the commencement of the therapy. As genetic discoveries increase knowledge of genetics and health and as a number of genetic tests and treatments grow, genetic counseling has expanded into other clinical settings such as managed healthcare organizations, commercial facilities, and private practices (Ashely, 2012).

References

Ashely, G. L. (2012). What Deficits in Sexual and Reproductive Health Knowledge Exist among Women with Cystic Fibrosis? A Systematic Review. Health & Social Work, 37(1), 29-36.

Song, C. J., Hilda, H. C., & Yoon, K. J. (2012). Ivacaftor: A new emerging treatment option in asthe management of cystic fibrosis. Formularly, 47(4), 132-142.

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