Genetic Counseling and Testing

Genetic Counseling
Genetic Counseling

Want help to write your Essay or Assignments? Click here

Genetic Counseling

With the increase in knowledge around genetic issues, it is important that all healthcare providers are prepared to have thorough genetic-based discussions now with their patients. In this assignment, you will synthesize your knowledge into a client case with a real or potential genetic health-related illness.
• Use the Surgeon General’s Family History Tool at http://www.hhs.gov/familyhistory/portrait/index.html to complete this assignment.

Directions:

Write a 1,000 word paper addressing a client case that might benefit from the process of genetic counseling.

-Describe the reason for the genetic counseling based on the findings from your completion of the history tool.

-Discuss the possible reactions the patient may have to your counseling and how to avoid negative reactions.

Imagine this assignment as if you are giving this counseling to a patient. Discuss the following:

  1. Health.
  2. Prevention
  3. Scr: eening
  4. Diagnostics
  5. Prognostics
  6. Selection of treatment
  7. Monitoring of treatment effectiveness

Genetic Counseling

Genetic Counseling: Introduction

Diabetes mellitus is considered a lifetime condition which inhibits the body’s capability to regulate metabolic glucose levels. Basically, it is divided into two categories that are; diabetes mellitus type 1 and type 2. Symptoms of type 1 occur after the destruction and damage of cells found within the pancreas leading to a deficit in the production of insulin. In diabetes mellitus type 2, insulin is produced, but it is either not enough or not effective at all (Hivert, Vassy, & Meigs, 2014). As an integral pillar of managing patients suffering from diabetes mellitus, genetic counseling is an aspect that should not be overlooked.

Reasons for Genetic Counseling

The patient is a 37-year-old African American male. The patient’s father passed away three years ago when he overdosed anti-diabetic medication. The patient’s mother was diagnosed with diabetes mellitus three years ago and has developed a diabetic foot complication. The client weighs 120.0 kilograms and his height is 1.4 meters. Diabetes mellitus is a disorder that has been associated with familial inheritance.

Want help to write your Essay or Assignments? Click here

The genetic factors responsible for causing diabetes mellitus are believed to be located from HLA regions within chromosome 6p21 (Hivert, Vassy, & Meigs, 2014). The protein sequences are inheritable factors. According to the family’s history, the patient is at risk of developing diabetes mellitus. A significant reason for genetic counseling is to create awareness. Through genetic counseling, the patient is expected to appreciate the fact that the condition can run across generations (Kaveeshwar & Cornwall, 2014).

Possible Reactions from the Patient

During the process of counseling, a patient’s reaction is either positive or negative. Positive feedback from the patient acts as a trajectory method to determine the cooperation of the client. The cooperation from the patient is determined by the patient’s mood and response (Anstee, Targher, & Day, 2013). In order to avoid negative reactions, a health worker is expected to first assess the patient’s mental well-being. For example, a depressed patient is most likely to respond negatively during genetic counseling (Anstee et al., 2013).

Want help to write your Essay or Assignments? Click here

The genetic counselor is expected to approach the client in a professional manner to avoid unnecessary predicament. Establishing rapport allays anxiety. In addition, the patient should be given time to present any ideas that might be necessary for the discussion. Appreciating any effort made by the patient to ask questions is also critical in managing negative feedback from the client.

Health

The ability of an individual to manage and adapt to mental, physical, psychological and spiritual well-being constitutes the health aspect of the individual (Anstee et al., 2013). A chronic illness like diabetes mellitus negatively affects the psychological status of any patient. Therefore, while providing counseling, mental, physical, psychological and spiritual well-being of the patient should be continuously assessed.

Prevention

The prevention of the occurrence and diabetes mellitus and the associated complications of diabetes will be undertaken in three stages including; primary, secondary and tertiary preventive measures. During primary prevention, the patient is educated on self-management and administration of insulin (American Diabetes Association, 2014). Secondary prevention is crucial for the patient diagnosed with diabetes mellitus.

Insulin administration and a change of lifestyle are two key pillars in improving the quality of life for diabetic patients. Dietary modification and engaging in physical activity for a specific period of time a day are crucial for prevention of complications arising from diabetes mellitus.

Screening

The process of screening involves coming up with a strategy to identify a condition which might have not manifested with signs and symptoms. The patient will be screened based on the presenting symptoms. The patient will be assessed on the level of blood glucose, the urinary functioning, the amount of water and food taken. The objective of the assessment is to identify the symptoms such as increased thirst, hunger, and the rate of urination.

The level of glycosylated hemoglobin is also part of the screening process in diabetes mellitus case. In the case scenario encountered, screening other family members is significant (American Diabetes Association, 2014). The unrecognized clinical manifestations among the siblings are identified through screening. In order to prepare in advance on dealing with the complications of diabetes mellitus, the process of screening is required.

Want help to write your Essay or Assignments? Click here

Diagnostics

Diagnosis is the process of coming up with the exact condition that the patient presents with. A patient is diagnosed with diabetes mellitus if the random blood glucose is 11.0 mili-moles per liter in cases with hyperglycemia, or oral glucose tolerance test of 11.0 mili-moles per liter or a fasting blood glucose level of 7.0 mill moles per liter. The management approaches for diabetes include self-insulin administration, physical activities, nutritional aspects and a general change in lifestyle (American Diabetes Association, 2014).

Prognostics

Aggressive management of the symptoms of diabetes mellitus includes prevention of complication like diabetes ketoacidosis. Control of the blood sugar results into control of micro-vascular complications of diabetes mellitus. Further, research studies have shown that the control of the level of glycosylated hemoglobin is associated with a reduction in the number of cases of mortality among diabetes mellitus patients. In order to prevent uncertainties, the patient needs to be advised to regularly administer insulin and monitor the glucose levels (Scirica, Bhatt, Braunwald, Steg, Davidson, Hirshberg, & Cavender, 2013).

The Selection of Treatment

Selecting the method of treatment will depend on the blood sugar levels of the patient. Other than insulin, other diabetic drugs like glibenclamide and metformin are prescribed based on the severity of presenting symptoms (American Diabetes Association, 2014). Administration of the drugs is preferred only in cases where the recommended lifestyle change fails to correct the blood sugar levels and associated symptoms. Furthermore, the dosage of drugs administered depends on the level of sugars present in circulation.

Want help to write your Essay or Assignments? Click here

Monitoring of Treatment Effectiveness

Monitoring involves making keen and observant follow up on the patient’s adherence to lifestyle modification, medication, participation in physical exercises and nutritional modification. The client will be educated and instructed to measure the glucose level by use of glucometer on a daily basis. The reduction of sugars in the blood will imply that the client positively responds to drugs, and other management approaches.

The medication dosage will be adjusted according to the level of glucose levels (American Diabetes Association, 2014). For example, an increase in the blood glucose level above 7.9 mili-moles per liter requires the use of high potency anti-diabetic medications.

In conclusion, diabetes mellitus is a lifelong condition which needs proper and well-structured management. A collaborative approach among the health workers, the patient and family members is necessary. As part of management on counseling, effective familial history is necessary.

The patient’s reaction expected during counseling is either of positive or negative feedback. The condition requires the combination of genetically oriented measures. The level of blood sugar in diabetes mellitus determines the screening, diagnosis, prognosis, treatment selection and measurement of treatment effectiveness.

Reference

American Diabetes Association. (2014). Diagnosis and classification of diabetes mellitus. Diabetes care, 37(Supplement 1), S81-S90.

Anstee, Q. M., Targher, G., & Day, C. P. (2013). Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis. Nature Reviews Gastroenterology & Hepatology, 10(6), 330.

Hivert, M. F., Vassy, J. L., & Meigs, J. B. (2014). Susceptibility to type 2 diabetes mellitus—from genes to prevention. Nature Reviews Endocrinology, 10(4), 198.

Kaveeshwar, S. A., & Cornwall, J. (2014). The current state of diabetes mellitus in India. The Australasian medical journal, 7(1), 45.

Scirica, B. M., Bhatt, D. L., Braunwald, E., Steg, P. G., Davidson, J., Hirshberg, B., & Cavender, M. A. (2013). Saxagliptin and cardiovascular outcomes in patients with type 2 diabetes mellitus. New England Journal of Medicine, 369(14), 1317-1326.

Want help to write your Essay or Assignments? Click here

Neonatal Resuscitation Research Paper

Neonatal Resuscitation
Neonatal Resuscitation

Want help to write your Essay or Assignments? Click here

Neonatal Resuscitation

Introduction

Is there a thing that is as defenseless and precious as a baby who is newly born? I agree with the fact that thousands of babies in the United States are premature before their small bodies can sustain life.  The normal time needed for a fetus to be fully developed in to a normal baby is usually thirty six to forty weeks. Premature infants therefore, are those born before the thirty sixth week.

Infants born before the twenty sixth gestation week have anatomically underdeveloped lungs and, they cannot physiologically support ventilation. I appreciate that there has been giant leaps forward within the last decades which has enabled us all but the most premature and smallest infants.

Currently, analyzing the Millennium Development Goals on Neonatal resuscitation in the developing world indicates that there is an impressive progress in child health. However, there is barely any notable achievement as far as neonatal health is concerned. Neonatal deaths’ proportion (death within the initial twenty eight days) is anticipated to increase as a result of the reduction in postneonatal deaths burden.  

The World Health Statistics shows that the health-related MDGs indicate that approximately thirty seven percent of the under-five mortality is usually within the neonatal period. Most deaths occur during the first week (early neonatal period). More than one million neonates lose their life within the first twenty four hours as a result of poor quality care, globally and annually.

Want help to write your Essay or Assignments? Click here

Continuum of Care

The key principle in developing strategies aimed at addressing (NHC) Neonatal Health Care revolves within the continuum of care. Throughout the lifecycle, including childhood, childbirth, pregnancy and adolescence, the care need to be offered as a seamless continuum spanning the health center, community and home, globally and locally (Atkins and Murphy, 1994, 50).  Therefore, decreasing child mortality depends entirely on managing neonatal mortality or otherwise, tackling Neonatal Health Care.

Personal Experience

I am a RRT (Registered Respiratory Therapist) and have worked in NICU (Neonatal Intensive Care Unit). Additionally, I have visited many other units as part of the duties as a Respiratory Care nurse. I have experienced the procedures and tests, the angst and waiting as well as the sensitive roller coaster of emotions that both parents and child endure. In case the infant is developed adequately and is strong enough for survival, there is anxiety concerning the quality of life for the child and the family that has to cater for the child’s specific needs.

Is the cost measurable in terms of real dollars and emotionally? Mezirow (1990) argues the mortality and morbidity rates in particularly low birth weight children is remarkably high; it is in fact, so high that the sole ethical choice is to leave them die a painless and natural death. Infants that are born before the twenty fourth gestation week need not be resuscitated for financial, medical and ethical reasons.

Medical ethic principles are justice, beneficence, non-maleficence and respect for autonomy. These principles act as the guideline for health care professionals when dealing with all their patients. There is no exception. Respect for autonomy recognizes “the patient has the capacity to act intentionally, with understanding, and without controlling influences that would mitigate against a free and voluntary act” (Lim et al, 2000, 492).

In the case of neonates, the biological parents have the responsibility of making the child’s health care decisions, as far as ethics in medicine is concerned. The non-maleficence principle implies that healthcare professionals should not create needless injury or harm intentionally to the patient, either with omission or commission acts. All procedures ad tests should have their benefits weighed. Beneficence can be defined as “the duty of health care providers to be of a benefit to the patient, as well as to take positive steps to prevent and to remove harm from the patient”.

In respect to the justice principle, each patient should be given what is rightfully theirs. Equal persons should be given equal treatment (Speck, 1985, 93).  Moreover, patients need to be treated with honesty and dignity, and together with their families, the healthcare community’s total disclosure is necessary so that they are able to make informed decisions. Even if, a health care professional does not agree with the decision made, it is necessary to treat the patient with dignity; the choice should be respected.

Want help to write your Essay or Assignments? Click here

My Critical Experience

From my many years of practice as a nurse, I choose this critical experience since it was tremendously emotional and had a profound impact on me until today. Douglas was delivered at twenty five weeks of gestation with a weight of five hundred and fifty grams. He was born spontaneously preterm in vertex presentation. His primigravida single mother, Annette, had pre-eclampsia which led to the preterm birth.

Annette was given a dose of steroids thereby delivering Douglas within the next hour. Using antenatal steroids is considered as critical intervention in anticipation of prematurity which improves preterm babies outcome (Teasdale, 2000, 581).

At birth, Douglas’ condition was critical and therefore, the need for resuscitation. As mentioned earlier, surfactant treatment is administered to preterm infants having respiratory distress since they lack a protein referred to as surfactant which prevents the lung’s small air sacs from collapsing. Douglas was therefore given surfactant treatment together with a breathing mechanical ventilator aid so that his lungs could remain expanded.

The boy’s condition improved, and he was successfully transferred to CPAP (Continuous Positive Airway Pressure).  This was aimed at delivering pressurized air to his lings via small tubes in the nose to help in breathing. Douglas developed bleeding in the brain (intracranial bleed) of grade III on the second day. Intracranial bleed is prevalent during the first 3 days of life and an ultrasound examination diagnoses it. Mild intracranial bleeds resolve themselves and no of few lasting problems (Miles, 1989, 71).

More severe bleeds cause the brain ventricles to expand rapidly, causing brain pressure which brings about permanent brain damage. The results are neuro developmental delay or cerebral palsy. Douglas also had PDA (Patent Ductus Arteriosus), a common heart problem in premature babies. This however did not need treatment as it was small.

Want help to write your Essay or Assignments? Click here

Irrespective of the boy’s critical condition during the first week in life, there was an improvement in his general condition. Naso-gastric tube feeds started being used, and intravenous fluids stopped (Shields-Poe and Pinelli, 1997, 32).  While still an inpatient at the hospital, Annette visited Douglas for 2 days during which she was updated of his critical condition. Annette did not bond with her son comfortably, although the nurses encouraged her to.

She gave excuses so that she could not express milk and therefore Douglas was fed with donor breast milk. On the 3rd day, she was discharged, and she visited only once every week. However, she called nurses most of the times to enquire about his progress. Annette’s behavior was brought to the attention of a social worker, and it was reviewed. When I was delegated to look after Douglas, I met the mother once during which I spoke with her and encouraged her to hold and touch the baby which she did.

On the 22nd day after birth, the CPAP was working for Douglas; he could tolerate the feeds and was adding weight. For the six days I took care of him, his general condition was satisfactory. Annette called at nights to check on Douglas’ condition. I informed her he was stable with a 30 grams weight gain. She was enthralled and promised to come the following day.

Want help to write your Essay or Assignments? Click here

On my seventh night duty, on the twenty eight days after birth, I was surprised to meet Douglas re-intubated and on Nitric oxide high frequency mode ventilator. Douglas has developed PPHN (Persistent Pulmonary Hypertension), stopped breathing and was cyanotic. According to Wood (2009), preterm PPHN is linked to high risk adverse neurodevelopmental and health outcomes. To date, it is among the most complicated conditions experienced in NICU.

His critical condition made him be supported using various intravenous infusions, among them morphine to manage pain. Annette had visited at day time and cuddled her baby. She also has a social talk with the in-charge nurse and she was to come during the evening and stay overnight with her son. Unfortunately, Douglas succumbed to cyanotic attack after she left. She was updated of this on her way back to the hospital. On arrival, Annette and the friend she had come with were confused to see the extreme technical situation surrounding the boy.

I offered a drink and a chair to Annette. The serving consultant counseled her and recommended the life support to be withdrawn since Douglas IVH was at grade IV. Annette was unable to decide on the care withdrawal. She begged to leave and come back with her mother the following morning to discuss the situation further and come up with a decision. She immediately left.

At NICU, 4 nurses are delegated with the responsibility of receiving admissions from the theatre and labor ward and taking care of sick babies. We were 3 three nurses that night as a result of staff shortage. An emergency came from the clinical nurse manager from the labor room. One of the nurses rushed to the labor room and brought back twenty eight weeks preterm Mark who was intubated. He required medications and infusions and since his condition was grave, attention was focused to him.

After Mark settled, I was beside Douglas when I realized that his heart rate had gone down to 120 per minute from the usual 160 per minute. The consultant agreed with me that nothing more could be done. The morphine infusion had to be increased to manage pain (Reid, 1993, 307). I called Annette as they were driving home with the friend to inform her of the development. She confirmed that she would come back the following with her mother as earlier agreed.

I touched Douglas’s hand soothingly and wished Annette was there to console and hold him. Suddenly, the nurse attending to Mark called out for drugs as Mark had developed cardiac arrest. We worked to resuscitate Mark but I could see that Douglas was also going in to an arrest since there was continuous drop in the heart rate. Mark was the priority at the moment but I wished I could go over to Douglas and console him.

His monitor stopped indicating vital signs. Mark died shortly after Douglas. We did all we could have done to save the two lives but as with hundreds of other babies, we were unsuccessful.  The social worker had to follow Annette to provide further care.

Want help to write your Essay or Assignments? Click here

The Care of Premature Newborns

“Good ethics begin with compelling facts” is a guiding principle when dealing with ethical care for premature newborns. So as to make a profound decision, the first thing is the qualified obstetrician to assess and gather all the necessary information utilizing all the available resources. Consequently, the parents need to be informed in a way that they can understand (respect for autonomy).

“It should be emphasized that there is some uncertainty with any predictive process, because every infant is unique. The prognosis for the fetus may change after birth, when a more accurate assessment of the gestational age and actual condition can be made” (Daly et al, 2004, 2).After the fetal weight and gestational age are determined; the parents should be presented with the facts and counseled on the child’s possible outcomes.

It is imperative that the health care team and physician address the process of decision making as a team, together with the parents. Moreover, the parent’s belief system and desires as well as the child’s needs should be kept at the forefront. The Journal Pediatrics have categorized the treatment decisions and summarized them on prognosis basis as:

1.         In case there is a high likelihood of early death and survival would encompass high risk of morbidity that is unacceptably severe: intensive care not indicated.

2.         In case there is a likelihood of survival and the risk of inadmissibly severe morbidity is small: indicate intensive care.

3.         In cases that fall within the mentioned categories and there is uncertain prognosis and likely extraordinarily poor, and survival encompasses diminished child’s quality of life, parental desires determine the approach for treatment. (Carkhuff, 1996, 211).

Want help to write your Essay or Assignments? Click here

During the last few decades, there has been an improvement in the prognosis for tremendously premature infants. However, many of the exceptionally small and extremely premature infants die or possess a morbidity rate that is unacceptably high. In this population, the medical complications are usually profound and complicated. Some complications result from the birth event and others are congenital defects. Majority of the morbidities are linked to immature lung development.

Fetuses produce surfactant, an essential proper lung function protein, at the age of thirty two weeks. Surfactant deficiency is treated by medical science by refining and producing porcine and bovine surfactant. However, this is usually not as effective compared to native surfactant.  There is the instantaneous complication of reduced delivery of oxygen to the brain, organs and blood. Besides this, the long term complication is anoxia, brain injury as a result of inadequate oxygen supply to the brain. High morbidity rates attract the greatest categories of complications.

Majority of the morbidities bring about profound and severe disabilities, and cause early demise (Murphy et al, 2003, 227). The mortality rate of neonates in this group is relatively high, and the severe to moderate morbidity rate is more than fifty percent. It is worth noting that the statistics for very small and very premature neonates indicate a one hundred percent mortality rate. These children possess physical limitations and abnormalities that they have to bear with for their entire lives and which their families need to provide care. The outstanding care is extremely expensive and emotionally exhausting.

Want help to write your Essay or Assignments? Click here

Reflect on the cost of offering care to late preterm vs a term infant. Late preterm have far much less complications as well as complicated medical needs as opposed to Extremely Low Birth Weight (ELBW) neonates, and yet the cost of caring for them during their 1st year of life is astoundingly vast. The cost for taking care of a premature infant who is late term is three times more the cost for term infants.

Extremely Low Birth Weight neonates’ cost is six times a term infant’s cost, if the infant survives. At a national level, the cost for ELBW’s care is staggering. United States spends 5.8 billion dollars annually (Raeside, 2000, 98).  This represents forty seven percent of all infant hospitalization costs and twenty seven of all pediatric stays. 65, 600 dollars is the average cost, where the least viable consume most of the resources.

The figures refer to the initial hospital stay costs. This is the first care as far as caring for children with profound or severe disabilities are concerned. Is this burden fair to the society? These are some of the prevailing questions in the light of the discussion on medicine socialization and healthcare coverage. What is the belief of the society on the value of life? Can a baby’s existence be replaced with the dollar value?

Considering that resources are infinite, should they be used on the few neonates and leave the majority to share the smaller percentage? (Schmieding, 1999, 636). What if it is my child is among those that require disproportionate resources and care to survive? What if my child is among those being given a normal care level since there are few providers as majority of the providers are focused on ELBW who need the highest care level? The answer to these questions will vary depending on the role of a person; a parent, health care consumer or a provider.

Want help to write your Essay or Assignments? Click here

Figure 1: Grave Neonatal Morbidities in < 750 g Birth Weight Infants in the National Institute of Child Health and Human Development Neonatal Centers, 1995-1996

ConditionFrequency of Morbidities (%)Range 
Respiratory Distress Syndrome78        54-97 
Oxygen required at twenty eight days after birth                    8164-92
Chronic Lung Disease             528-86
Necrotizing Enterocolitis                     149-38
Septicemia                   4830-64
Grade 3 intraventricular hemorrhage              136-29
Grade 4 intraventricular hemorrhage              133-26
Periventricular Leukomalacia             72-30
Growth failure             10092-100

This data is for infants who are alive at twenty days (Cotton, 2001, 515).

Conclusion

Preterm neonates require extensive care to ensure their survival. Major challenges that make this goal ineffective include inadequate nurses and medication. More than often, care has to shift to neonates who require immediate attention. It is sue to these reasons that neonate mortality is still high although there has been an improvement in child care as per the MDGs. It takes a lot of courage to work as a nurse and especially when emphatic with the mother to the neonate infant.

Bibliography

Atkins, S. and Murphy, K. (1994) “Reflective Practice.” Journal of Nursing Standard, Vol. 8, iss. 39, 49-56.

Carkhuff, M. H. (1996) “Reflective learning: work groups as learning groups.” Journal of Continuing Education in Nursing, Vol. 27, iss. 5, 209–214.

Cotton, A. H. (2001) “Private thoughts in public spheres: issues in reflection and reflective practices in nursing.” Journal of Advanced Nursing, Vol. 364, iss. 4, 512-519.

Daly, J. Chang, E. and Jackson, D. (2004) “Quality of work life in nursing: Some issues and challenges.” Journal of the Royal College of Nursing, Vol. 13, iss. 4, 2.

Lim, J. J., Childs. J. and Gonsalves, K. (2000) “Critical incident stress management.” The Journal of American association of occupational health nursing, Vol. 48, iss. 10, 487–497.

Mezirow, J. (1990) Fostering critical reflection in adulthood: a guide to transformative and emancipatory learning. Jossey-Bass.

Miles, M. S. (1989) “Parents of chronically ill premature infants: sources of stress.”Journal of Critical Care Nursing Quarterly, Vol. 12, iss. 3, 69-74.

Murphy, F. C., Smith, I. N. and Lawrence, A. D. (2003) “Functional neuroanatomy of emotions: A meta-analysis.” The journal of Cognitive, Affective, & Behavioral Neuroscience, Vol. 3, iss.  3, 207-233.

Raeside, L (2000) “Caring for dying babies: perceptions of neonatal nurses.” Journal of Neonatal Nursing,Vol. 6, iss. 93-99.

Reid, B. (1993) “But we’re doing it already”, Exploring a response to the concept of reflective practice in order to improve its facilitation.” Journal of Nurse Education Today, Vol. 13, iss. 4, 305-309.

Schmieding, N. J. (1999) “Reflective inquiry framework for nurse administrators.” Journal of Advanced Nursing, Vol. 30, iss. 3, 631–639.

Shields-Poe, D. and Pinelli, J. (1997) “Variables associated with parental stress in neonatal intensive care units.”Journal of Neonatal Network, Vol. 16, iss. 1, 29-37.

Speck, P. (1985) “Counselling on death and dying.”British Journal of Guidance and Counselling, Vol. 13, iss. 1, 89-97.

Teasdale, K. (2000) “Practical approaches to clinical supervision.”The journal of Professional Nurse,Vol. 15, iss. 9, 579–582.

Wood, J. T. (2009) Interpersonal Communication: Everyday Encounters. Cengage learning.

Want help to write your Essay or Assignments? Click here