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Chromosome Number For
NUR 3516 Crisis Intervention
Professor
07/26/2015

Chromosome Number Four

The purpose of this paper is to explore the association of crisis intervention relative to nursing and genetics related to Huntington’s disease (HD). The focus will touch on several different topics associated with pre-emptive testing, pregnancy, educational barriers, strengths, signs and symptoms related to the potential of having an aneuploidy fetus. Also, the importance of time sensitive decisions during pregnancy, social support for potential results, financial resources and hardship related to testing. Additionally, the potential for impaired early on-set compromised cognitive functioning linked to Huntington’s disease. Finally, incorporating the expanded role of the professional nursing scope, practice, and ethical dilemmas associated with Huntington’s disease.

Chorea a Brief History

Huntington-Chorea was identified in 1872 as a rare inherited disorder secondary to “Chorea” jerky uncontrolled movements (Mandal, 2014). Chorea is Greek in origin and defined as “dancing in unison” (Merck Manual, 2015). 1872 the jerky movements were thought to be divine intervention or demon possession that required a type of exorcism to expel (Jumreornvong, 2015). Additionally, with the evolution of genetics in 1983 according to the US-Venezuela Huntington Disease Collaborative Research Project an approximate location of the gene was identified (Mandal, 2014). Likewise, in 1993 the precise gene was isolated and identified to assist in treatment modalities. Additionally, with the advancement of gene splicing has dramatically reduced the rate of occurrence of Huntington’s disease. According to Tidy (2013) HD progresses slowly with a very poor prognosis. Upon developing the symptoms as documented today between the ages of 35-44 years old the final outcome is death within 10 years (Tidy, 2013). Finally, Huntington’s disease is a complicated neurodegenerative disorder that can have a detrimental effect on families physically, emotionally, and financial stability.

A Time for Decisions

Due to the detrimental effects and the early on-set of signs and symptoms of Huntington’s disease families have become proactive with management of their disease. The more common signs and symptom of HD are chorea, involuntary movements, dystonia, and bradykinesia, swallowing difficulties, and choking. Additionally, with early on-set comes diminished cognition along with psychological deficits as the first signs of HD are poor perception, reasoning, awareness, thinking , decreased concentration, short term memory lapses and orientation(Tidy, 2013). According to Tidy (2013) early on-set signs and symptoms is prior to twenty years old with the earliest medically documented case noted to be at 18 months. With the advancements in early detection of gene abnormalities as a medical professional empowering mothers with a family history of HD by giving them the control to choose predictive testing utilizing the advancements in early detection of gene abnormalities through self and fetal testing. With the potential of aneuploidy fetus there are several predictive test that can are offered starting with marker blood testing during the first trimester of pregnancy. Followed by chorionic villi sampling that must be completed between 10-12 weeks of gestation. Additionally, amniocentesis should be completed starting at 15 weeks of gestations. With that being said there are several ethical dilemmas associated with the knowledge of identifying the genetic predisposition of a fetus as having the HD defect. Finally, the predictive testing is not 100% perfect, so the purpose for termination of a pregnancy must be performed before viability noted to be approximately 24 weeks of gestation according to Florida guide-lines (Scott, 2013).

Diminished Cognitive Function Huntington’s disease is a progressive, challenging, complex, and slowly debilitating disease that can compromise cognitive and psychological functioning. According to Liou (2010) HD is a neurodegenerative disorder that effects the normal processing of neurons secondary to the damaged circuits. Additionally, short term memory, long term memory, language comprehension, memory retrieval, verbal fluency, and word finding can all be compromised. Furthermore, Liou (2010) identifies early stages, intermediate stage and late HD by progression of signs and symptoms. Moreover, the early stage noted have difficulty with organizational task, coping with change, and impaired decision making and attention (Liou, 2010). Followed by the progressively worsening symptoms during the intermediate stage can be identified by increased difficulty working, managing a household but still maintains basic self-care needs. Finally, late stage HD patient can no longer manage daily living activities, requires in home care 24/7, and increased difficulties with communication along with swallowing/eating difficulties. Huntington’s disease is not only physically damaging but mentally debilitating; however, with early intervention, preparation, and management while the affected individual stills maintains control will ultimately decrease stress and increase the coping mechanisms. According to Kanel (2012) chronic illnesses there are five stages of grief associated with successfully coping they are denial/isolation, anger, bargaining, depression, and finally, acceptance of the disease. With acceptance comes the ability to cope effectively decreasing the stress of all involved with custody, care and control of the individual. According to American Nurses Association Code of Ethics the professional nurses are enlisted to, “enable the patient to live with as much physical, emotional, social, religious, and spiritual well-being as possible to reflect the patient’s own values (2015, p.2)”. Finally, upon identifying a patient’s barriers and strengths will help determine the needed resources, intervention, and education to necessitate the successful navigation of this impending crisis. Barriers and Strengths There are many bridges to cross when attempting to identify the needs of a chronically ill individual. The most basic barrier is a knowledge deficit related to their particular disease process. As a professional nurse it is our responsibility to identify the needs of the patient and effectively communicate those needs (ANA, 2010). According to Hawkins, Creighton, and Hayden (2013) there are many barriers related to the predictive testing available for Huntington’s disease. HD testing must be completed in one of the specialty clinics strategically placed throughout the world. With that being said there enormous financial strain, travel endeavors, time constraints, and distance are major obstacles to overcome. Additionally, the compounded financial strain associated with testing may not be covered through traditional insurance plans. Moreover, predictive testing can be upwards of thousands of dollars not to mention the travel expenses. Furthermore, there is an integrated process that must be adhered to while completing the testing process which takes several weeks with many scheduled appointments. Finally, with the completion of the testing process there are psychological ramifications that may need a strong support foundation through professional counseling, family, friends, or community.

Support System As we know chronic illness can become overwhelming causing crisis without an adequate support system. According to Kanel (2012) an individual can perceive the recent diagnosis as an overwhelming event causing a breakdown equaling a crisis. With Huntington’s disease there are many essentials that may be needed to help the individual cope effectively. Furthermore, the lack of a strong support foundation would surely negatively impact any individual or family attempting to navigate all the obstacles related to HD. The negative impact can propel an individual into a crisis prone situation starting with the initial denial, anger, social withdrawal, increased anxiety, irritation, exhaustion, lack of concentration and finally a deep depression that could ultimately end in suicide (Kanel, 2012). Additionally, there may be a need for crisis intervention to assist the patient through the pending emergency. Finally, with coordinated multidisciplinary care of a psychologist, occupational therapist, social workers, case managers, speech and language therapist, physicians and nurses the pending crisis can be diverted as an appropriate plan of care can be established thus decreasing the perceived subjective stress(Veenhuizen et al. (2011) Crisis Response With the mother of an aneuploidy fetus the crisis response will depend on the perception of the patient. According to Kanel (2012) this unresolved crisis can be regarded as a danger or opportunity for the individual. If viewed as an opportunity the mother can properly prepare or terminate the pregnancy according to her wishes. With that being said the individual continues to have effective daily functioning with typical coping skills. On the other hand if viewed as a danger the crisis nurse is responsible to effectively support the patient through open communication which decreases the anxiety associated with HD. As the crisis counselor it is imperative to change the perception of the emergency there by eliminating the subjective stress to increase the coping skills of patient (Kanel, 2012). As a professional nurse working in any capacity it is our responsibility through the Code of Ethics (2015) to, “practice with compassion and respect for the inherent dignity, worth, and unique attributes of every person along with the safety of the patient.” Finally, by empowering the mother with available services, newly developed testing options, support groups, or by just listening will assist in deflecting the crisis helping her to take control with an informed decisions.

.
Nursing Scope and Practice

As a professional nurse we are bound by the Nursing Scope and Standards of Practice (2010) to provide accurate health teaching appropriate to each medical situation while maintaining a high level competence as the medical field evolves. With Huntington’s disease as it is related to a potential aneuploidy fetus there are many new options surfacing starting with genetic testing, predictive testing, chorionic villi sampling, amniocentesis, pre-implantation genetic diagnosis (PGD), artificial in vitro fertilization and artificial insemination by donor. Genetics has very promising future within the medical field. The HD trait can be isolated and identified which expands option for the patient. As for the mother of a aneuploidy fetus genetic testing will also provide options for early termination or acceptance of possibility the child that will also have the dominate trait which may develop into the full blown disease. With all of that being said the medical field continues to develop and grow in leaps and bounds as the professional nurse we must maintain a higher level of standards by continuing education in order to effectively and accurately educate each and every individual.
New Insights The medical arena is evolving daily with huge leaps and bounds. Genetics is utilized today minimally but will have a significate impact on the availability of new treatment modalities. Genetics is an amazing development that can significantly reduce or eliminate terrible diseases. However, this field can be an ethical dilemma for some nurses that are not willing to participate in the care of individuals that choose to utilize this treatment modality. According to the American association code of Ethics (2015) and Standards of Care (2010) we as professional nurses are bound to maintain a higher level of education to effectively treat patients. With that being said a nurse has the same provisions bounding them by the code of ethics as duty to self, maintaining integrity, and wholeness to character (2015). Moreover, the professional nurse must be able to adapt and overcome many obstacles with the novel use of genetic there must be a way to standardize teaching, increase the scope of practice to include the genetic teaching, health assessment, and patient education these are just the basics. The use of a specialty training with certifications can assist in starting the trend of becoming genetically proficient. According to Kirk, Calzone, Arimori and Tonkin (2011) the main barrier to standardizing competencies related to genetics and nursing is the financial responsibility. Finally, today there are several certifying bodies attempting to standardize genetic competence in order to maintain an superior level of patient care (Kirk,Calzone, Arimiro,& Tonkin, 2011).
Conclusion
In conclusion Huntington’s disease is a neurodegenerative disease that has a horrible prognosis and final outcome. This disease was first known as the Huntington’s Dance and now with the advent of genetic testing it is known as Chromosome Number four defect. Due to the isolation and identification of this chromosome there is now expanded treatment modalities for HD patients, mothers to be, and children. The resources now available through coordinated multidisciplinary specialties will help the patient to establish a plan of action and gain some type of control over their impending future. As professional nurses it is our responsibility to assist in guiding a patient through their crisis proficiently. Finally, empowering the patient through education, providing more options, appropriate guidance, and compassionate care will divert any pending crisis.

References
American Nurses Association (2015). Code of Ethics for Nursing. Silver Springs, MD: nursesbook.org

American Nurses Association. (2010). Nursing: scope and standards of practice. (2nd ed.). Silver Spring, MD: Nursesbooks.org

Details on State Abortion Laws - FindLaw. (n.d.). Retrieved July 26, 2015.

Hawkins, A., Creighton, S., & Hayden, M. (2012). When access is an issue: Exploring barriers to predictive testing for Huntington disease in British Columbia, Canada. Eur J Hum Genet European Journal of Human Genetics, 21, 148-153.

Jumreornong, N. (2015). Exorcism and Mental Illness Across Different Cultures. Asia, Global HD.

Kanel, K. (2012). A Guide to crisis intervention. (4th ed.). Belmont: Brooks/Cole, Cengage Learning

Kirk, M., Calzone, K., Arimori, N., & Tonkin, E. (2011). Genetics-Genomics Competencies and Nursing Regulation. Journal Of Nursing Scholarship, 43(2), 107-116.

Liou, S. (2010). The cognitive Symptoms of Huntington's Disease. Retrieved July 26, 2015, from http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/?s=cognitive

Mandal, A. (2015). Huntington's Disease History. The Latest Developments in Life Sciences & Medicine.

Tidy, C. (2013, May 28). Huntington's Disease. Retrieved July 26, 2015, from http://patient.info/health/huntingtons-disease-leaflet

Veenhuizen, R., Kootstra, B., Vink, W., Posthumus, J., Bekkum, P., Zijlstra, M., & Dokter, J. (2011). Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation. Orphanet Journal of Rare Diseases Orphanet J Rare Dis, 6(77).…...

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