ADVANCED PATHOPHYSIOLOGY CASE STUDIES.

                          ADVANCED PATHOPHYSIOLOGY CASE STUDIES.

Carl Stuart

Stuart Medical Series.

                                                                  Abstract.

This paper discusses three pathophysiological case studies. The first pathophysiological case study concerns homeostasis and pain management in a geriatric patient with multisystem failure. The second case study discusses the safety, communication and placement for the older adult. The final case study examines genetic diseases, methods of diagnosis, screening techniques and available treatment options.

CASES.

Case study 1

Case study 1: Homeostasis and Pain Management in a Patient with Multisystem Failure.

                                                   Case Summary.

Elli Baker is a 73 years old female who was taken into the emergency room after collapsing in her backyard while talking to her friend on the phone where she seemed agitated and confused. She complained of dysnea on arrival to the emergency room, and she had an increased respiratory rate and pulse. She has a history of hypertension and diabetes; and is on medication of metformin, hydrochlorothiazide and had recently also added the antihypertensive agent lisinopril. She was initially able to converse with the nurse before she became unresponsive and increasingly dyspnoeic.

                             Immediate Assessment of the Patient’s Homeostatic Status.

     A critically ill geriatric patient (a patient aged 65 years or older) experiencing physiological alteration requires immediate or emergent advanced medical interventions and monitoring (McAnderson, 2009). This necessitates doing the following key immediate assessments.

     First of all, the airway patency is assessed by asking Mrs. Baker to speak. Her rate and pattern of breathing is assessed using a stethoscope while asking Mrs. Baker to inspire and expire. Her circulation system is then examined by inspecting the neck veins (to check if there is any distension or collapse) and determining if there exists any external hemorrhage. Hemorrhages will need to be immediately arrested by clamping the ruptured vessel. Her gross mental status and general motor functions is then assessed to determine if any major spinal cord injury or head trauma has occurred (Teitelbaum, 2010).

      The vitals are then measured. Blood pressure is measured using a manual or digital sphygmomanometer, temperature is measured by a digital thermometer, and the pulse rate and pulse rhythm are measured with the aid of a stopwatch. The level of oxygen saturation in the arterial blood is measured using the pulse oximeter. The respiratory rate and pattern is measured using a stethoscope (Teitelbaum, 2010).

   The level of alertness is graded on the Glasgow Coma Scale using Mrs. Baker response to tactile and auditory stimuli. Then the nurse inspects Mrs. Baker’s body from the occiput to the heels for any signs of physical trauma such as bruises, cuts, subcutaneous bleeding (ecchymoses and hematomas) and bone fractures (Teitelbaum, 2010).

     The nurse should also withdraw a sample of  blood from Mrs. Baker that would be taken to the laboratory for analysis of the following parameters: full and differential blood counts, concentrations and activity of enzymes (such as alkaline phosphatase, aspartate transaminase and creatine kinase), albumin concentration, random blood sugar, concentrations of electrolytes (such as potassium, sodium, calcium, chlorine, phosphates and blood urea nitrogen), urate and cholesterol concentrations, plasma pH and blood gas analysis (Teitelbaum, 2010).

     The level of pain (mild, moderate or extreme) can be assessed in the following ways. Observing Mrs. Baker face for signs of grimacing. Also the nurse should note if Mrs. Baker has assumed a rigid tense posture, or if she is irritable, angry or depressed and if she avoids being touched in certain areas or in particular manners. Examining Mrs. Baker for physical changes such as unusual skin flushing, a pale clammy skin, dilation of pupils, increased heart rate and irregular breathing patterns. The nurse should also discern changes in Mrs. Baker verbal activity such as moaning, panting and sighing (Teitelbaum, 2010).

     Assessment of pre-existing cognitive impairment. The nurse should derive from Mrs. Baker relatives, friends, or caregiver the following baseline information. Mrs. Baker memory status, overall cognitive ability and executive function (such as fine motor coordination).The daily typical behavior of Mrs. Baker prior to the emergency, with regards to interpersonal relations, response to stimuli, communication capability (writing, reading and speech),perception patterns; and the orientation in space and time (Teitelbaum, 2010).

     The nurse should also document and assess the previous medical, psychiatric, surgical and drug history of Mrs. Baker in the context of the existing emergency situation (Teitelbaum, 2010).

      Assessment of nutritional status. The nurse should find out the last meal taken by Mrs. Baker. The nurse must also inquire from the relevant persons about Mrs. Baker typical meal plans, dietary restrictions, food safety, use of assistive devices for feeding, and any food preferences. The nurse must inspect Mrs. Baker for signs of malnutrition by observing Mrs. Baker body for signs of hair loss, muscle wasting, and loss of skin integrity (Teitelbaum, 2010).

                                                     Use of Technological Tools.

      The following technological tools would be used to assess and/or treat Mrs. Baker. The laboratory technological tools are explained below.

      The Coulter Cell Counter is used for the full and differential blood counts. Enzyme analysis is done with the aid of the mass spectrophotometer. The level of oxygenation of Mrs. Baker’s hemoglobin is measured by a pulse oximeter. Mrs. Baker’s biochemical profile can be measured using a multichannel auto-analyzer (McAnderson, 2009).

The following hospital technological tools would be used to assess, monitor, regulate and treat some of the conditions affecting Mrs. Baker. A digital glucometer would be utilized to measure her blood glucose levels while insulin pumps would be utilized to regulate her blood glucose concentration. Medical imaging devices such as ultrasounds, X-ray machines, MRI (Magnetic Resonance Imaging) machines, CT (Computer Tomography) and PET (Positron Emission Tomography) scanners would be used to diagnose possible internal hemorrhage and fractures.MRI images can show aneurysms which may be present due to the existing hypertension and a vascular wall whose integrity has been compromised by her old age or injurious stimuli. Her bodily functions would be supported by mechanical medical ventilators, hemodialysis machines and heart-lung machines. The hemodialysis machine would purify her blood by removing metabolic wastes and excretory products from it. The mechanical medical ventilators would be utilized to support her breathing or respiration, and thus ensure that her lungs are adequately ventilated. The heart-lung machine would be used for cardiopulmonary bypass during surgical operations. Her brain activity would be monitored by the electroencephalograph which would detect and alert the nurse of irregular brain waves. The electrocardiograph would be utilized to measure and monitor her heart rate and cardiac function.

Some drugs which have extremely short half-life (such as esmolol) would continuously be administered by the intravenous route by infusion pumps (McAnderson, 2009).

       There are several benefits, which are explained below, of using these technological tools in determining Mrs. Baker’s status. They constantly monitor several vital biological parameters and provide real-time data about her status; this assisted the nurses in making the appropriate medical decisions concerning the necessary interventions. Diagnostic equipments provide medical images in a non-invasive manner. Laboratory results that have been processed and provided by automated equipments are highly accurate and precise thus reducing the margin of error, this assists in the formulation of the appropriate management strategy. Infusion pumps can be calibrated to ensure that she maintains the therapeutic concentration of the drugs in the systemic circulation. Mechanical medical ventilators and hemodialysis machines could support her bodily functions adequately even if her natural systems were to shut off completely. Integration of all the technological tools by computer softwares would enable the healthcare providers to visualize the three-dimensional picture of Mrs. Baker health status, thus, providing them with a guide on how to appropriately manage her (McAnderson, 2009).

                                             Prioritizing Data Collection.

     There is need to prioritize data collection in emergency situations, so that, the necessary interventions are conducted in the right order that permits the patient to live (Teitelbaum, 2010).

     In Mrs. Baker scenario, the oxygen saturation of her arterial blood was assessed first, to ensure that her tissues are well oxygenated. Next, her vital signs were taken, in order to institute the basic appropriate compensatory and emergency interventions. The history of presenting complaints was then documented so as to plan the provisional management strategy. The laboratory specimens were then obtained and sent to the laboratory and their results documented, this assisted in apt modification of the management plan. Then, there was a complete history taking exercise, and, a comprehensive physical examination done, and, the results noted down, this assisted in making the final diagnosis (Teitelbaum, 2010).

                  Assessing Pain in a Fully Conscious and Unconscious Geriatric Patients.

       Assessing pain in a fully conscious geriatric patient is relatively straightforward, while, it is difficult to do the same in an unconscious geriatric patient as their response to stimuli is greatly diminished (Teitelbaum, 2010). The discussion below compares the assessment of pain in alert, conversant, conscious geriatric patient and in an unconscious geriatric patient.

        In a fully conscious geriatric patient, pain can be assessed and graded by verbal responses when a stimulus is applied while for the unconscious patient who does not react to stimulus, pain is assessed by measuring the heart rate, blood pressure and pulse rate. The gold standard of pain measurement during pain assessment is the patients’ own report which can be given by alert, conversant conscious patients but not unconscious patients whose pain assessment and measurement is thus done by measuring the increase in the pulse rate. Also, pain can be assessed by observing for changes in verbal activity (such as moaning or panting), and facial expression such as grimace in conscious alert patients, this is not possible in comatose patients. The conscious alert patient would avoid being touched by anything in particular areas or in specific ways but the comatose patient offers no such resistance. The conscious alert patient will thus assume a rigid posture to prevent the aching area from contacting any object while the comatose patient would never assume such postures. The patient experiencing pain would be irritable, angry or depressed while the comatose patient will be calm and non-responsive. Both the alert conscious patient and the unconscious patient, in pain will display physical changes such as unusual skin flushing, pale clammy skin, increased heart rate, dilation of the pupils and irregular breathing patterns (Teitelbaum, 2010).

             Management of Pain in an Unresponsive Geriatric Patient with Multisystem Failure.

        Pain management usually involves administration of drugs. Assuming that the standing doctor’s order are to administer acetaminophen 500mg orally, or morphine 0.05mg/kg intravenously or morphine 0.1 mg/kg intramuscularly, the drug choice will depend on two factors. The most important consideration is the capacity of the patient’s body to biotransform and eliminate the drug administered; failure of the body to perform these activities leads to drug toxicity due to drug accumulation in the body. The other consideration is the drug potency in reducing pain (McAnderson, 2009).

          Acetaminophen is preferred in cases of multisystem organ failure because of its analgesic and antipyretic actions. Opioids such as morphine are generally avoided in comatose patients because of their sedative and hypoventilatory effects that delays recovery from the unconscious state. Opioids are several magnitudes more effective than acetaminophen in analgesia (McAnderson, 2009).

Though acetaminophen is less effective than opioids in analgesia, it is safer than morphine and would be used in this geriatric patient experiencing multisystem failure. Acetaminophen effectiveness will, thus, depend on the dosage regimen that will be formulated.

The success of the pain management strategy will be highlighted by following facts. There would be increased depth and normal or reduced rate of respiration. The blood pressure, pulse rate and central venous pressure would all decrease. The patient hydration status would stabilize and the urine output would decrease (McAnderson, 2009).

          From the above case study, I have learned how to assess the homeostatic status, oxygenation status and the level of pain in both conscious and unconscious geriatric patients. I also learned the benefits of using technological tools to assess and treat geriatric patients. I also learned how to prioritize data collection in emergency situations. I also learned about the comparison of pain assessment and measurement methods in alert, conversant geriatric patients and in unconscious geriatric patients. I learned also about pain management in comatose geriatric patients experiencing multisystem failure and ways that can be used to assess its success.

          In order to successfully manage a geriatric patient in an emergency situation, a collaborative multidisciplinary team will need to be formed. This team should be comprised of the emergency room nurse, trauma surgeon, physiotherapists, physician, regular nurses and nurse aids (Teitelbaum, 2010).

Case Study 2

Case Study 2: Safety, Communication and Placement for the Older Adult.

                                                             Case Summary.

Mr. Henry Trosack is a 72-years old second generation Polish-American who one month ago fractured his right hip when he fell down on the staircase while taking trash out of his second floor apartment. His brother, Karl called 911 and Henry was taken to hospital were he underwent a total hip replacement within 24 hours of admission. He was in in-hospital rehabilitation for two weeks after a successful, uneventful surgery. He was diagnosed in the hospital with type II diabetes mellitus and moderate hypertension, and, the drugs Glucophage 500mg b.i.d and Lopressor 25mg b.i.d were respectively prescribed for the conditions. Before discharge, he was given diabetic teaching, and, given a glucometer for home use; and dietary counseling considering that he had a BMI of 34. Percocet was prescribed for postoperative pain after discharge. Upon discharge he will use a walker.

Mr. Trosack is a widower who has been living alone for two years in his crammed apartment that can only be assessed by two flights of stairs. He stated that he has had no previous surgery and did reservedly admit to never having a physical examination in the past decade. The stated that he used non-prescription medication he termed as “vitamins”. He uses reading glasses and has a 60% hearing loss in the left ear. He runs a bakery. His busy, married, irreligious son, Peter maintains minimum contact with him.

During patient interview, Mr. Trosack expressed his displeasure about his “disability” status and the need of taking medications. Though, he was concerned that climbing the stairs would be difficult and painful, he still wanted to assist in the bakery. He admitted that he cannot go down to the basement where the supplies are stored. He insisted that he can take care of himself, and, can therefore take the medication.

During the family interview, Peter and his wife admitted to maintaining infrequent contact with Mr. Trosack because they had demanding jobs, but, promised to take care of him when he comes home. They did not understand the importance of taking medication as they did not believe that Mr. Trosack has diabetes, but, they believed that diet control could manage the situation. They admitted that they did not know where Mr. Trosack obtained his groceries. They stated that they believed Mr. Trosack would follow instructions and remain in the apartment. The family declined any nursing assistance by citing that Mr. Trosack cares much about his privacy. They also admitted that Mr. Trosack apartment is small and crammed thus impeding the use of the walker, but they express their pleasure that apartment may be cleared of “junk”. They also state that Mr. Trosack is alert and capable of taking care of himself as he has been doing so since his wife died two years ago.

Safety assessment showed that the apartment is small and crammed. The small bathroom does not have safety features. The small kitchen was clean and Mr. Trosack was able to maneuver with the walker. The controls of the stove are easily reachable. There is no elevator, and, the apartment can be accessed only by two flights of stairs which are used when taking trash to the rear of the building and when taking groceries up to the apartment. Furniture, memorabilia and rugs clutter the apartment. The bathroom medical cabinet was full of old prescriptions. The food in the refrigerator had expired.

                                                   Discussion.

       The following healthcare issues must be addressed by the interdisciplinary team that is determining the most appropriate discharge plan for Mr. Trosack; Mr. Trosack current and predicted physical and mental status, the community circumstances that he will discharged into, his needs and preferences; and his preference regarding the discharge destination (Schmidt, 2009).

        Assessment of Mr. Trosack current and predicted physical and mental status involves assessing his functional status, cognition, his mobility and existing comorbidities (Schmidt, 2009). The importance of assessing these elements is explained below.

        Assessing the current physical and mental status enables the team to gauge the appropriateness of their decision to discharge him, and, it also assists in the formulation of his therapeutic management strategy. Assessing the predictable physical and mental status enables the team to formulate strategies that will reduce hospital readmission and improve his overall health (Schmidt, 2009).

        Because the functional status constantly changes, it is one of the most important determinants considered when planning the management of Mr. Trosack. The functional status determines the following: if he will be able to purchase food, prepare food or eat in his bakery; if he would be able to take his medications appropriately and his risk of injury. A good functional examination will assist in formulation of management plans that would enable Mr. Trosack to live longer with chronic incurable conditions such as hypertension, diabetes, hearing loss and reduced visual acuity; the plans would reduce the immobility and functional disability which would enable him to enjoy his privacy and autonomy; and the plans would reduce the healthcare cost in the long-term as it would reduce the risk of injuries that would damage the hip prostheses, and would also minimize the chances of his hypertension or diabetes worsening due to non-compliance with the drug regimen (Schmidt, 2009).

         Assessing his cognitive status would assist the team to place him in the appropriate discharge destination. His cognitive capability affects his interpersonal relations with his caregivers, his capacity to follow the prescribed drug regimen and thus avoid overdosing himself, and the risk of him getting injured (Schmidt, 2009).

        The knowledge of existing comorbidities enables the team to integrate these illnesses in its plan management of Mr. Trosack. This ensures that the drugs prescribed do not worsen these comorbidities or that these comorbidities do not reduce the effectiveness of the drugs administered. Thus, the drugs and drug regimens that were chosen were ideal to his situation (Schmidt, 2009).

        Another important health issue is the community circumstances that Mr. Trosack will be discharged into; they encompass the following elements: the skills, availability and willingness of his son’s family to take care of him after discharge; his post-admission living arrangements and environment. This would ensure that Mr. Trosack has the necessary social support and security during his recovery; and, it also ensures that he will return to an environment that facilitates the following: his independence, hygiene, ease of obtaining food, adequate heating and cooling, moving around safely and ongoing medical care (Schmidt, 2009).

        Another health issue to be considered is Mr. Trosack needs and preferences. This encompasses the aspects of care that he requires before and after discharge. This would enable the team to find an appropriate placement for him (Schmidt, 2009).

        Mr. Trosack preference of discharge destination is another health issue to be considered, as it gives the team an opportunity to coordinate effectively with his discharge destination on issues regarding his medical treatment (Schmidt, 2009).

The interdisciplinary team that determined the most appropriate discharge placement for Mr. Trosack was made up of the following members: social worker, surgeon, physiotherapist and nurses. The social worker assessed Mr. Trosack psychosocial needs and appropriateness of the family support, provided information regarding discharge options and services available to Mr. Trosack and his family and advocated for the patient’s rights. The surgeon assessed the post-operative recovery of Mr. Trosack after the total hip replacement surgery, and determined if he can be discharged. The physiotherapist assessed his functional status and disability and determined if they were adequate enough to warrant his discharge. The nurses carried out discharge-related assessments as they had daily contact with Mr. Trosack; the charge nurse did ward assessment, the specialist nurse undertook specific assessment such as cognition, and the emergency room nurse assessed him with the aim of reducing readmissions. The nurses also acted as the discharge liaison officers as they served as a link between the hospital and the family in regards to continuity of care after his discharge (Schmidt, 2009).

          The following safety issues that could affect the determination of discharge placement must be addressed as described below. The small apartment which is cluttered with furniture and memorabilia restricts Mr. Trosack maneuverability when he is using his walker and this increases the risk of injuries such as falls. Thus, it is necessary to convince him of the need to clear out such objects from the apartment. The small bathroom that lacks safety features which increases the chances of slippage or falls, and, therefore dislocating the hip prostheses, thus the need to set up the necessary safety features. The bathroom medicine cabinet must be cleared of all old medical prescriptions for cleanliness concerns. Safety assessment of the kitchen showed that he can move freely there, and, the stove is relatively safe for use. The refrigerator must be emptied of all the expired food to avoid food poisoning. The flight of stairs that are the only access to the apartment necessitates that his groceries be brought and the trash taken out by his family. The apartment must also be cleared of the rugs for cleanliness and hygienic concerns as such rugs (especially if wet) may support the growth of moulds (Schmidt, 2009).

        The discharge plan of care (based on the safety assessment and family interview) for Mr. Trosack was discussed with the family as described below. First of all, the family was informed of the importance of incorporating them into the continuity of care of Mr. Trosack after his discharge. Then, there was a discussion about the ability of the family to take care of Mr. Trosack after his discharge. The family was informed of the importance of Mr. Trosack taking his medications according to the prescription given. The family was informed that they were expected to do perform the duties stated below. They were expected to buy groceries (in particular the ones Mr. Trosack prefers) and take them to his apartment, ensure that Mr. Trosack does not climb down the stairs, thus, they are the ones to take out the trash for him. They are to assist him in taking his medications, checking his blood glucose using the glucometer and dietary management. They are to ensure that his bathroom is fitted with the necessary security features and that the bathroom cabinet is cleared of all the old prescription. They are to ensure that the apartment is cleaned and maintained in such a state. In case of emergency, they could reach the hospital through the hospital contacts that they were given (Schmidt, 2009).

        The family was informed of how social isolation could severely affect Mr. Trosack recovery from surgery. They were made aware the following facts. Though Mr. Trosack stated that he could manage alone, the family should always be there to attend to his needs or to just visit him regularly; this would prevent him from falling into a state of depression due to loneliness. It would also ensure that he obtains his daily needs, complies with his treatment plan and that he lives in a safe hygienic environment. All these factors would reduce the effects of functional disability caused by the surgery, reduced visual acuity and reduced auditory perception (Schmidt, 2009).

       The family was also informed of the ways that psychological factors may influence Mr. Trosack recovery. They were informed that depression could make him to become non-compliant with the treatment plan; it also increases the chances of him injuring himself. Thus, the duties and activities that they could undertake in renovating the apartment and visiting him would prevent him from falling into depression. By maintaining regular contact with him, they may be able elate his mood, and this, facilitates quick complete recovery; they may also convince him of the need to clear the room of memorabilia and furniture in order to create space and improve the appearance of the apartment. Mr. Trosack would also be able to air his displeasure about Peter’s irreligiousness (Schmidt, 2009).

        The recommended discharge placement for Mr. Trosack is his own apartment. This is due to the following factors. First, he wants to be placed there. The family could be easily convinced of the need to renovate the apartment to make it hygienic and safe. The family expressed their wish to visit him in his home, attend to his daily needs and do most of the chores for him. The family did not want outside nursing assistance due to privacy concerns, and, they are capable of facilitating his independence and autonomy in his home. The family wants him in his apartment so that they can be able to monitor and ensure that he complies with his treatment plan.

Case Study 3

Case Study 3: Genetic Disease Diagnosis, Screening and Treatment.

                                                         Case Summary.

Rita Trosack is 43 years old descendant of Irish immigrants married to Peter Trosack, a third generation Polish-American. She was raised in the farm but has now adopted an urban lifestyle. Rita and her husband live in a condominium in downtown Chicago and they both work an average of 60 hours a week in the financial district. They are currently irreligious. After two years of trying to conceive a child, she was confirmed pregnant by an early pregnancy test. Her breasts became tender and she experienced severe fatigue. Her last menstrual period (LMP) was April 20, 2008 and according to her calculation, her due date was January 29, 2009. She attended her first prenatal clinic in late June where the doctor confirmed the estimated date of delivery (EDD) as late January. Because of her advanced age, a chorionic villous sampling (CVS) was recommended to screen for fetal genetic defects. She scheduled the test for early July and began taking prenatal vitamins and stopped drinking wine. She quit smoking 20 years ago. The attending physician provided her with the basic information regarding nutrition, exercise, proper seatbelt use, normal signs and symptoms of pregnancy and danger signals that she should report to the physician. She had been in good health, her body mass index (BMI) was within normal range, and she was thus comfortable with her pregnancy. In July, the results of the CVS showed that the fetus had Tay-Sachs disease and the attending physician referred the couple to a high risk perinatal clinic.

The family interview results showed that the couple was distraught by the fact the fetus had Tay-Sachs diseases and they vacillated between denial and acceptance. Rita blamed her job and Peter believed that the test was wrong. Because of religious and personal reason, they refuse to consider the option of abortion. One of Rita’s paternal uncles died at an early age of unknown causes. Peter’s mother died at the age of 68 years due to pancreatic cancer. A paternal uncle and aunt of his, died at an early age of unknown causes.

                                                            Discussion.

        A nurse assigned the above case for management must, first of all, form an interdisciplinary team to obtain and assess the necessary information about the main purpose of the Trosack couple initial visit. The interdisciplinary team must include the following personnel: the nurse case manager, obstetrician, genetic counselor and a social worker (Wasserstein, 2011). The roles of these professionals are described below.

        The nurse case manager would provide the necessary information about Tay - Sachs disease to the Trosack family. From the above family interview, it is clear that the couple does not know anything about Tay-Sachs disease; the nurse case manager would have to inform them about the following facts regarding Tay-Sachs disease. That Tay-Sachs disease (also termed Hexosaminidase A deficiency) is a rare, inherited genetic disorder that causes progressive destruction and loss of the neurons located in the central nervous system (which comprises of the brain and the spinal cord). The couple would also be informed that Tay-Sachs disease is classified into the infantile, juvenile and adult or late onset forms based on the period of onset of neurological symptoms. The nurse case manager should then inform the couple that there are three forms of Tay-Sachs disease: Infantile, juvenile and adult or late onset types; the fetus has the infantile form of Tay-Sachs disease as this is the variant form of the disease that starts to manifest itself when the baby is still in the womb, and that the symptoms would appear between the third and the sixth month during the postnatal life and that the disease is likely to worsen quickly and cause death by the age of 3 to 4 years (Wasserstein, 2011).

        The obstetrician would manage the use of novel genetic techniques to facilitate prenatal diagnosis, institute medical management; and, monitor and evaluate the progress of treatment of Mrs. Trosack; and, prescribe the necessary tests to be done and the essential medications  (Wasserstein, 2011).

        The genetic counselor provides genetic counseling and would elaborate on the genetic information provided by the nurse case manager. He/she would educate the couple on issues concerning Tay-Sachs disease such as inheritance patterns, probability of recurrence; and the available diagnostic and reproductive options. He/she would draw the couple family tree and explain to the couple how their health status may impact on the health of their children. He/she would assists the couple in interpreting medical information about the risks present and explain to them the role of genetics in disease conditions. Finally, the genetic counselor would determine the chances of recurrence of this condition in the family, and, explain to the couple the diagnostic or testing methods available (Wasserstein, 2011).

        The above three (nurse care manager, obstetrician and genetic counselor) healthcare professionals are well trained, competent, and experienced in assisting the concerned families to understand the causes and the correlation between birth defects and inheritance; this enables such families to make informed decisions concerning the pregnancy (Wasserstein, 2011).

         The social worker would determine the social, financial and emotional impact of the diagnosis on the family. The social worker by counseling the Trosack family in regards to their emotional concerns would assist them to adjust to the condition and its plan of management. The social worker also assists the family with problem solving, advocacy and communication of their concerns about the plan of care. The social worker also facilitates the integration of the family into the relevant support groups and coordinates referrals either to the hospitals or community based resources when necessary (Wasserstein, 2011).

        Tay-Sachs disease is a recessive autosomal condition that requires both parents to be carriers in order for it to be expressed. If both parents are carriers, there is a 25% probability that the child born will have Tay-Sachs disease, 25% probability that the child will be normal (have a non-carrier state) and 50% probability that the child will also be a carrier (Wasserstein, 2011).

        Tay-Sachs disease is a form of gangliosidosis caused by reduced activity or deficiency of the hydrolytic enzyme Hexosaminidase A that catalyses the biodegradation of gangliosides, thus these gangliosides accumulate within the neuronal cells and this interferes with the normal vital cellular processes hence causing irreversible cell injury that ultimately causes cell death . (Wasserstein, 2011).  

        Infants born with Tay-Sachs disease exhibit normal growth and development during the first six months of life. Then, the neurons become distended due to the accumulation of gangliosides; this causes progressive deterioration of both the physical and mental capabilities. Thus, the child progressively losses the auditory function, and, has rapid deterioration of visual acuity; and becomes dysphagic. Unfortunately, there is no cure for Tay-Sachs disease or ways to regress its progression. Hence, its form of treatment focuses on lifestyle and care concerns; and controlling its symptoms (Wasserstein, 2011).

         The forms of treatment of Tay-Sachs disease are stated below. Chemotherapy using sodium valproate or benzodiazepines to keep the patient comfortable.  Maintenance of an open patent airway using mechanical ventilators or chest physiotherapy. Tubal feeding to ensure that the patient is adequately hydrated and nourished. Physical therapy to maintain joint flexibility and integrity and hydration therapy to prevent dehydration (Wasserstein, 2011).

         The simple blood test is used to diagnose the carrier state of the parents with regards to Tay-Sachs disease by analyzing the activity of the enzyme Hexosaminidase A. If both parents are carriers, they can perform sophisticated tests such as amniocentesis, fetal blood sampling and CVS during pregnancy (McLeod, 2007).

The main ethical issue concerning genetic testing is the problem of obtaining false negative or false positive results. This is as a result of some genetic tests being used as screening tests. This disadvantage is reduced by the multiple-marker screening test (McLeod, 2007).

The multiple-marker screening test is used to identify pregnancies whose fetuses are at an increased risk of developing open neural tube defects (NTDs) or chromosomal abnormalities such as trisomy 21 or 18 and trisomy 16 mosaicism. It detects about 80% of pregnancies with fetal open NTDs and 60% of fetal trisomy 21. Most false positives requires further diagnostic tests thus increasing anxiety over the probable outcomes such as termination of  pregnancy; fortunately most false positive results have normal pregnancies. Negative results have the residual risk of being false negative results; thus, such women can give birth to babies with genetic defects like trisomy 21 (McLeod, 2007).

          Genetic testing is also used to identify the genetic contribution to risks of chronic illnesses, this assists in initiation of early intervention and/or preventive measures. Thus, genetic tests for gene mutations associated with hereditary ovarian and/or breast cancer assists in identifying women who would benefit from personalized prevention and screening protocols based on their increased genetic susceptibility to ovarian and breast cancer. Genetic tests predict increased risk but not certainty of disease, thus, making medical decisions about interventions, such as oophorectomy or prophylactic mastectomy, difficult. Thus, genetic tests provide guidelines for making nonreversible medical decisions; hence the patient should state what she considers to be the best course of action (McLeod, 2007).

          Genetic testing has several potential adverse consequences as described below. The genetic tests for some incurable conditions have the potential of causing psychological harm, discrimination and stigmatization. Genetic testing may also limit the individual’s access to privileges and rights such as employment and/or insurance cover. It may also lead to genetic discrimination. Genetic discrimination refers to the different treatment that an individual gets from persons or organization due to the perceived or real genetic differences. Though, the extent and nature of genetic discrimination is unknown, most people who qualify for genetic testing are reluctant to do such tests for fear of losing their jobs or insurance cover. This exemplifies the importance of maintaining confidentiality with regards to such individual medical information; unfortunately this is not sufficient in eliminating risk of discrimination of persons who have positive results in genetic tests (McLeod, 2007).

           My personal assessment of the Trosacks quandary is that they will manage this situation  if they are provided with the necessary support especially from the genetic counselor. The genetic counselor would inform them of new methods of dealing with Tay-Sachs disease thus offering them hope and optimism about their future family. Their choices will be guided by their personal convictions, values; and the standard norms and virtues. Their ethos will definitely influence the management plan. Ethos is the shared fundamental traits peculiar to a particular group of people and is expressed in habits, beliefs and attitudes. In the contemporary society, ethos is highly flexible, and changes depending on the influencing external factors, thus the need for reevaluation of the current dominant position (McLeod, 2007).

          The Trosack family position regarding abortion is understandable because of their past religious background. This shows that even after they became non-observant Catholics, they still respect the sanctity of human life, a fact that all the three major monotheistic religions emphasize. The contemporary secular society does not understand the value of human life due to overarching materialism and would thus prefer abortion, euthanasia and eugenics over suffering. Most pro-life advocates do so from a religious perspective or from the standard morality perspective. The decision of the Trosacks to refuse abortion shows that they love and value the life of their unborn child. Who knows if in the future a cure for the disease will be discovered? My position is that the choice that the Trosacks will make will stay with them and they will live with its consequences, they should thus make an informed position (McLeod, 2007).

         The main legal consideration in this case is that the parents are entitled to receive adequate reasonable information about Tay-Sachs disease, its associated health problems and available treatment options as this would enable the family to make informed decisions thus enabling their self-determination. Failure of this may lead to lawsuits and the concerned hospital may end up paying monetary compensation to the afflicted family or patient (McLeod, 2007).

         The main ethical consideration in this case is abortion. Abortion is an unethical practice that violates the standard principles of medicine. Also, prenatal diagnosis influences the option of termination of the pregnancy, this introduces two ethical options: Value judgments and Eugenics. Value judgments depend on the parents’ knowledge of the condition, how they obtained the information and how they interpret the information that they have when making an informed decision. Eugenics which seeks to eradicate bad genes from the human gene pool is universally loathed by all liberal democracies as it categorizes humans into those fit to live and those unfit to live and this is against the bill of human rights (McLeod, 2007).

                                                           References.

McAnderson, P. (2009). Geriatric Nursing at a Glance (27^th Ed.). New York: McGraw-Hill.

McLeod, S. (2007). Prenatal Diagnostic Tests of Tay-Sachs disease and the Social, Legal, and

            Ethical Implications. Journal of Genetic Diseases, 23, 342-451.

Schmitt, D.P. (2009). Special Considerations in the Management of Geriatric Patients. Journal of

            Nursing, 100, 254-332.

Teitelbaum, K. (2010). Comprehensive Geriatric Assessment. Review of

            Nursing Practice, 43, 781-852.

Wasserstein, Y. (2011). Overview of Genetic Diseases (33^th Ed.). New York: McGraw-Hill.