Advanced Pathophysiology - Tay Sachs Genetic Disease - Research Paper Example

? Genetics- Advanced Pathophysiology Persistent research in human genetic makeup and potential defects has led to incredible discoveries in the field of medicine and healthcare in general. Nevertheless, genetic testing as a medical field is still advancing and yet to be fully integrated into actual medical care and patient treatment. This implies that comprehensive plans must be formulated; and proper medical teams utilized, to implement these plans in caring for individuals affected by genetic disorders. The case study under scrutiny, which focuses on a family with a genetic disorder history, seeks to give insight into possible integration strategies while caring for people with genetic ailments. The paper achieves this objective by identifying and examining roles that should be played by a multi-disciplinary healthcare team to effectively deal with a family whose unborn child is diagnosed with Tay Sach’s genetic disease. This case study also includes a teaching plan formulated for the family to examine further, the moral implications regarding ease of access to individuals’ genetic information. Additionally, the paper has a reflective section giving insight into my opinion in regard to the family’s decision, as well as, my advocacy for this choice. The final section in the report evaluates the legal and moral circumstances of carrying a baby diagnosed with Tay Sach’s to term. Genetics Case Study It is evident from the Trosack family case that, they are staunch Catholics. This implies that, strong Christian beliefs and ethics guide this family’s decisions, hence their elevated believe in God rather than scientific based evidence. All the same, the family needs professional support and education, so as to effectively cope with the Tay Sach’s diagnosis and provide sufficient care for their unborn child. Assessment of the Trosack’s case study brings several crucial healthcare issues to light. The issues include poly pharmacy concerns, and depression possibility owing to the pregnancy and consequent diagnosis (Jenkins & Lea, 2005). These issues can only be addressed by a team with diverse skills and knowledge in different disciplines. The multi-disciplinary team will help me, as the nurse in charge, to formulate an adequate education and discharge plan for Rita Trosack and her family. Members of the Interdisciplinary Team Case Manager: This is one of principal players in management of the case, since the individual is responsible for planning, task assignment and coordination of the other members involved in the Trosack family case (Jenkins & Lea, 2005). Additionally, the case manager provides information about appropriate pregnancy care, while availing resources after Mrs. Trosack’s discharge. This individual can also assist the couple in accessing suitable physicians for their unborn child. It is also the case manager’s responsibility to question the Trosack couple, in order to discover relevant information such as their medical insurance, the level of education, religious beliefs and home living conditions. Overall, the case manager will provide access to all necessary resources for continued care for the child and its mother. Social Worker: This is a vital team member because he or she would enable the family to cope with the Tay Sach’s diagnosis and later treatment (Jenkins & Lea, 2005). Further, a social worker has the capability to guide the family in gaining access to proper support groups and community resources. The worker may also provide emotional support for the family in the course of disease progression. Generally, I would expect the social worker to provide all relevant information about support groups, available community resources and comprehensive education about prenatal care. Registered Gynecologist or Nurse: A gynecologist would be highly beneficial in this case, since Mrs. Trosack is pregnant. The gynecologist’s responsibility would be to examine all changes, however trivial, in the pregnant woman thus effectively monitoring the baby’s growth and identifying potential concerns (Jenkins & Lea, 2005). Additionally, the gynecologist will be required to maintain a patient chart, so as to continually monitor Rita Trosack’s physical changes. This individual will also record Rita’s physiological changes and reproductive system’s transformation over pregnancy progression. The mentioned roles can also be played by a registered nurse. The latter can provide highly essential after delivery care, while educating the family on how to effectively take care of their new born baby. Genetic Counselor: A genetic counselor forms a vital part of the interdisciplinary team. This is because he or she will provide the Trosack family with adequate information regarding the Tay Sach’s genetic disease. This would not only enable the family to cope with diagnosis of the genetic disease, but may also give them insight into the most appropriate way of dealing with the child once born. A genetic counselor would also give specific information about the family’s genetic history thus helping them decide on what to do if they decided to add more children to the family. Teaching Plan Trosack’s family will require comprehensive information about the genetic disease and its management during their initial visit to the healthcare center. This implies that the teaching scheme should be equally all inclusive and it will, therefore, include a genetic diagnosis, treatment program, prognosis, provision of information about support groups and physician referrals, as well as, evaluation of Rita’s pregnancy information. These fundamental elements are discussed in detail hereunder. Genetic Diagnosis: This phase can be covered by the chosen genetic counselor. The information provided can help the affected family immensely, by enabling them understand their genetic makeup and how it leads to Tay Sach’s disorder. Understanding the condition paves way for acceptance hence improvement of the Trosacks’ coping capacity. The selected genetic counselor would also hold a brief question and answer session to guarantee that the family gets all the information they require (Jenkins & Lea, 2005). Treatment: Lessons about prenatal, as well as, post natal care treatment will be provided by the registered nurse, and/ or the gynecologist. This involves providing comprehensive information to the family about the care of an unborn child and gaining access to the best possible pediatricians once the kid is born. This would serve to ensure that the child gets care from a caregiver with adequate knowledge about Tay Sach’s. The information covered under this segment could cover treatment methods such as gene therapy, enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Prognosis: During the first visit by the Trosack family, the genetic counselor together with the social worker can provide information to the family about the disease progression, prior to birth, after delivery up until death. This implies providing adequate information about the symptoms and the best way to ensure the child’s comfort. The entire interdisciplinary team will be involved during this training phase, in order to provide all required information snippets to cover all bases about Tay Sach’s genetic disease. Lessons covered must provide adequate knowledge about ways of improving the child’s life, and possible treatments currently being researched in clinical trials. Such information can play a role in encouraging the family about possible treatment opportunities. At the same time, the team cannot afford to give the family elevated hope, since the trials may not necessarily be successful. To guarantee adequate comprehension of the situation, the team must ensure that the family verbalizes the information acquired. Referrals and Support Groups: Information about pediatricians and available support groups can be provided by the team’s case manager. Such information is especially crucial when the child is born and requires intensive care, hence requires access to Tay Sach’s specialists. Additionally, giving the family information about support groups will enable the Trosacks to be able to interact with other families whose children have been diagnosed with the genetic ailment. Referrals can also be provided by the team’s social worker who has immense knowledge about Tay Sach’s specialists after intensive interaction with affected families. This information can be provided by handing out pamphlets, website links and books about Tay Sach’s and pediatricians that deal with affected individuals (Feero, Guttmacher & Collins, 2008). Pregnancy details: Information about pregnancy is crucial in determining the baby’s, as well as, mother’s current condition. This is information that will be given by the gynecologist or obstetrician. The specialist will also give the team and the family a prenatal plan, which analyzes how Rita Trosack’s pregnancy has been since conception, changes and discomforts that she has experienced, as well as, the baby’s growth, prenatal care and nutrition thus far, as described by the current gynecologist. Ethical Implications Ensuring confidentiality: In situations where medical personnel acquire information about a patient or entire family’s genetic information, they must take necessary steps to guarantee confidentiality is upheld. This requires upholding patient-physician confidentiality, which is punishable under the medical practitioners’ code of practice and mainstream legislation. To further protect personal genomic conditions, there must be clarity about individuals that should have legal access to the information. This would prevent employers or even insurance organizations from using such information to dismiss employees or disqualify individuals from medical coverage, in that order (Giarelli, 2003). Utilization and impact of an individual’s genetic information: After an individual or entire family decides to go through the process of genetic testing, they should have the liberty to choose what to do with the resultant information. For instance, the patient could decide to make the most medically informed decision or disregard it, just like the Trosacks. Overall, this decision should be based on the genetic information recipient’s decision. Education and comprehension: In the contemporary society, general public has little or no information at all about genetic information. Most individuals only learn about genetic disorders when a loved one gets afflicted and even then they have limited information about the disorder for lack of consultants to assist. All the same, the internet has provided individuals with easy access to journals of genetics research, but this information must be filtered to ensure that the afflicted only get relevant information. Additionally, education or transmission of information regarding genetic conditions cannot be imposed upon the affected and neither should it compromise their ethics and principles (Giarelli, 2003). Reflection Essay Receiving news that a loved one is suffering from an incurable genetic disease is a major blow to any family, let alone the knowledge that the affected is an unborn child. This is the traumatic situation that the Trosack family is currently in; following the diagnosis of Mrs. Rita Trosack’s unborn baby. This presents a significant dilemma since they have to choose between aborting the child and carrying the pregnancy to term at the risk of losing it within just a short while after birth. This is a difficult choice to make, especially for a staunch Catholic family like the Trosacks, since their values are guided by Christian beliefs. This implies that their morals supersede any scientific teaching or information they might acquire. The Trosack couple’s decision to keep the child is also bolstered by the fact that they have previously tried to conceive to no avail. This drives them to believe that the baby is a special gift from God and even though they are still in denial, the couple believes that God cannot give them a challenge that they cannot overcome. I concur with the Trosack couple’s decision to keep the child on the basis of the fact that they desire to be parents and have a child to love and cherish. Additionally, upholding their religious values is also helpful and it enables them to stay true to their nature and beliefs, enabling them to feel guilt free. However, on the medical front is irrational for the couple to keep the child, since it is highly difficult to raise a kid suffering from Tay Sach’s genetic disease. In addition, the couple must have access to comprehensive care giving education and immense resources, in order to excellently raise the infant for its entire life (Hunter, Khoury & Drazen, 2008). Advocacy for patient’s final choice is one of the fundamental functions carried out by the nurses. Nurses are supposed to advocate for patients’ choices even though they do not feel inclined to agree with the choice made. The only thing that nurses can do is to educate, to support, and to provide sufficient care to the said patient. As a registered nurse and case manager, I would support the Trosacks in their decision and provide them with sufficient information regarding Tay Sach’s, as well as, providing them with community and pediatrician referrals. Trosack Family’s Legal and Ethical Considerations: Ethical Concerns: There are numerous moral dilemmas encountered when dealing with genetic testing aimed at discovering ailments and coping with them. The other principal ethical concern is terminating pregnancies for any reason. Many people consider abortion unethical, irrespective of the reasons provided, even where medical justification is provided. In contrast, other people may consider making a kid live, while having to endure excruciating medical treatments, a highly unethical practice. Finally, genetic tests are not entirely conclusive and the possible margin of error must be accounted for before settling for the final decision (Hunter et al., 2008). Legal Considerations: The principal legal concerns in this case, include the question of people that should have access to the genetic results. There is also the legal concern of whether other blood relatives should be allowed to gain access to the results and if insurance companies are legally supported to limit medical coverage for the affected. Since there is limited legislation governing the field of genetic testing, precedence addressing this situation must be established. In conclusion, principles and ethical guidelines must provide sufficient guidance to medical personnel regarding disclosure and utilization of genetic information. References Feero, W., Guttmacher, A., & Collins, F. (2008). The genome gets personal - almost. New England Journal of Medicine, 299(1), 1351-1352. Giarelli, E. (2003). Safeguarding being: a bioethical principle for genetic nursing care. Journal of Nursing Ethics, 10:255-268. Hunter, D., Khoury, M., & Drazen, J. (2008). Letting the genome out of the bottle - will we get our wish? New England Journal of Medicine, 358(2), 105-107. Jenkins, J. & Lea, D. (2005). Nursing care in the genomic era: A case-based approach. Boston, MA: Jones & Bartlett Publishers. Read More