Genetic Disorder Case Study

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

The BLS states that the employment outlook for the genetics counseling field is quite promising. They project it to grow at 29 percent until the year 2024, which is much faster than average. Keep reading to learn why the employment outlook for this exciting medical field is so good.

The client attends school where he receives an Individual Educational Plan (IEP) to address his Attention-Deficit Hyperactivity Disorder along with his developmental delay and learning disability. There is limit to no information on the client’s developmental history as the client’s biological mother parental rights have been terminated due to history of domestic violence, neglect and the possibility of physical abuse. The client’s biological sister has also been removed from their biological mother and they both reside with their pre-adoptive

According to Berger (2014), a patient can receive genetic counseling to learn more about a condition/disease he or she may possibly be at risk for and may possibly pass onto their children (p. 88). A genetic counselor is educated and trained to describe to the patient the condition/disease, the benefits and drawbacks for taking the genetic test, the test results’ meaning, and how having the condition could affect their future children (Berger, 2014, p. 88). Then, the patient – not the genetic counselor – makes decisions about his or her next steps with respect to all the information they have been provided by the genetic counselor (Berger, 2014, p. 89).

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

A Genetic Counselor is someone who provides information and support to those who have birth defects, genetic disorders or at risk of such conditions. They may also look for treatment of disorders, or conduct research on the cause or they may work to help the families and individuals understand the condition they or others may have. To be a genetic counselor you have to have completed master's degree program in genetic counseling. Students should prepare with undergraduate courses in biology, chemistry, genetics, and psychology. Some the top schools to go to outside of Virginia for genetic counseling majors is Johns Hopkins University, Northwestern University, or Boston University School of Medicine. Though schools that are in state and are

Genetic counseling is for older child bearing mothers seeking counseling for the best course to take with giving birth. In most cases this is for older women who are becoming mothers. It is common that the baby could be born with a hereditary disorder and genetic problems due to the mothers high chromosomal abnormalities. As a young mothers pregnancy it is 1 in every 200 pregnancies to have this problem, for older mothers the rate is 1 in every 20 pregnancies. (schonberg&tifft, 2007) Some disorders for the baby are common and controllable, such as blood disorders. But there is also high risk of premature birth or miscarriage. These extra genes include diseases like cystic fibrosis, muscular dystrophy, Huntington disease, and nervous system

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Ms. Lindsey Gaouette is an 18 year old female who receives special education services at South Hadley High School for a health disability: Russell Silver Syndrome. Lindsey struggles with learning difficulties and has worked hard to remediate her learning deficits. Lindsey’s area of weaknesses includes; executive functioning, recall, organization, planning, attention, concentration, processing, reading comprehension, communication and due to her short stature, she does have some physical limitations. Lindsey has been on an IEP most of her academic history. Just last year Lindsey was taken off the IEP and placed on a 504 plan. She has been successful this year with the help of her teachers and additional tutoring.

A family health nurse is responsible to be a reliable resource when helping clients understand illnesses that are passed down within their family and when conducting genetic counseling (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). In this discussion, I will consider a scenario where I am a family health nurse meeting with a married couple who are both carriers for the genetic disorder of cystic fibrosis. I will review what a genetic counseling session provides, how I took a detailed family history to assess and analyze the potential genetic problems they would have with their offspring, if I would recommend genetic testing for the couple before they have children and if I could facilitate the testing, and discuss some advantages and

If the results are positive for a genetic fetal anomaly, it will most likely be a devastating blow to the expecting parents so healthcare workers should take extra care to be empathetic. Parents will probably have many questions such as how did this happen? What are the chances of survival? Will the child live in pain? Are there any cures? Etc. The healthcare worker should attempt to answer these questions calmly and should provide the most accurate, unbiased, and comprehensive information that is possible about the anomaly. In addition, the healthcare worker should have already researched what support and services are available so the healthcare worker may provide the parents with as many resources as possible to assist them with future care,

So, even if you didn’t recognize the disease as genetic, you’ve certainly run into someone with a far reaching genetic disorder. A disorder that left them borderline unable to function, perhaps a disorder that left their ability to think or remember things severely limited, a disorder that hindered them in all aspects of their lives, or even a disorder that lead to such frailty, that they could die within the next ten years. Everyone has seen someone like this, whether family or not, now should they be able to have a chance to spread their disorder further, through having children? Using common sense, and various government websites detailing the multitude of genetic disorders and how easily and randomly they can be inherited, anyone can come to the quick conclusion that they shouldn’t be able to. Now, this view that people with debilitating genetic disorders shouldn’t be able to reproduce comes not out of a place of hatred, but truly and honestly out of sympathy. People with such awful disorders shouldn’t be allowed to have children.

Prader Willi Syndrome results from partial deletions on chromosome 15 that affect the regulation of the gene expression, or how genes turn on and off. One of the main symptoms of Prader Willi Syndrome is the inability to control eating. In fact, this syndrome is the leading genetic cause of life-threatening obesity. Other symptoms include low muscle tone and poor feeding as an infant, delays in intellectual development, and difficulty controlling emotions. Necdin and SNRPN are important proteins that is missing in Prader Willi Syndrome patients. Necdin helps regulate growth and the growth of neurons. The loss of Necdin in Prader Willi Syndrome patients can help explain some of their symptoms. The lack of the SNRPN gene expression

Cri Du Chat does not necessarily have a cure, but there are technologies that may cure it in the future. In order for patients to have a bright future they must seek support from parents, medical, and educational professionals. They will need lots of therapy. Surgery may be needed if the symptoms of the individual is severe. Genetic counseling may be needed for affected individuals.