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5. Why is this decision such a struggle for Suzanne and David? Explain how the implications noted at the end of Part I could impact the lives of Suzanne and her family.

5. Why is this decision such a struggle for Suzanne and David? Explain how the implications noted at the end of Part I could impact the lives of Suzanne and her family.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Please help me with part one

question 5

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PDF link https://www.cusd80.com/cms/lib/AZ01001175/Centricity/Domain/8922/eofad.pdf

Living With Her Genes: Early Onset Familial Alzheimer's Disease by Lynne H. Gildensoph, Biology Department, The College of St. Catherine, St. Paul, MN Alice M. Stanford, Division of Science and Mathematics, University of the Virgin Islands, St. Thomas, VI Deborah D. Wygal, Biology Department, The College of St. Catherine, St. Paul, MN Part I-Confronting the Future Suzanne, a woman in her early 30s, has learned the devastating news that her 38-year-old sister, Karen, has been diagnosed with early-onset familial Alzheimer's disease (BOFAD) through the use of a genetic screen. Karen started experiencing symptoms such as progressive memory loss, confusion, poor judgment, and language problems in her late 30s. Karen is no longer able to care for her two children and is in a nursing home, where she may live another 10 or more years, although her state will deteriorate with time. This is similar to what Suzanne's dad experienced before he died of Alzheimer's-related complications when he was just 42. Suzanne is distraught, both by the thought of losing her sister and by the fact that she may be carrying the gene for this disease herself. Since she is a genetic counselor, she understands the pattern of inheritance of the gene for this autosomal dominant hereditary disease, and its implications for her own life. Scientists working on the Human Genome Project have identified three gene mutations responsible for EOFAD. Clinical testing for these mutations is available, and tests on Karen revealed that she has one of these mutations, called APP. This is a relatively rare mutation, affecting only 5% of people diagnosed with EOFAD. Suzanne knows that she has a 50% chance of having inherited this gene mutation herself. She and her husband, David, are struggling with the decision of whether Suzanne should be tested, since they know that no effective treatment or cure for EOFAD exists and the probability of having inherited the gene and remaining unaffected is very small. In addition, there are implications for insurance coverage, potential discrimination by employers, and the likelihood that family and social interactions will change. And, if Suzanne carries the gene, her children have the same 50% chance of inheriting it. What should Suzanne do? Should she be tested? Questions 1. Who are the characters in this real-life scenario? What medical situation does each of them face? Draw a pedigree for this family, following the EOFAD trait. 2. Exactly what is Alzheimer's Disease? Is it the same as EOFAD? After looking at the PET scans in Figures 1 and 2 below and doing some reading, discuss how the brain is affected and how this leads to particular symptoms in Alzheimer's Disease. 3. What is a genetic counselor? What background/education does Suzanne have? 4. Who covers the cost of genetic testing? Is this approved by most insurance carriers? If the test is paid for by an insurance company, who owns the resulting information? 5. Why is this decision such a struggle for Suzanne and David? Explain how the implications noted at the end of Part I could impact the lives of Suzanne and her family. "Living With Her Genes" by Gildensoph, Stanford, & Wygal Page 1
Transcribed Image Text:Living With Her Genes: Early Onset Familial Alzheimer's Disease by Lynne H. Gildensoph, Biology Department, The College of St. Catherine, St. Paul, MN Alice M. Stanford, Division of Science and Mathematics, University of the Virgin Islands, St. Thomas, VI Deborah D. Wygal, Biology Department, The College of St. Catherine, St. Paul, MN Part I-Confronting the Future Suzanne, a woman in her early 30s, has learned the devastating news that her 38-year-old sister, Karen, has been diagnosed with early-onset familial Alzheimer's disease (BOFAD) through the use of a genetic screen. Karen started experiencing symptoms such as progressive memory loss, confusion, poor judgment, and language problems in her late 30s. Karen is no longer able to care for her two children and is in a nursing home, where she may live another 10 or more years, although her state will deteriorate with time. This is similar to what Suzanne's dad experienced before he died of Alzheimer's-related complications when he was just 42. Suzanne is distraught, both by the thought of losing her sister and by the fact that she may be carrying the gene for this disease herself. Since she is a genetic counselor, she understands the pattern of inheritance of the gene for this autosomal dominant hereditary disease, and its implications for her own life. Scientists working on the Human Genome Project have identified three gene mutations responsible for EOFAD. Clinical testing for these mutations is available, and tests on Karen revealed that she has one of these mutations, called APP. This is a relatively rare mutation, affecting only 5% of people diagnosed with EOFAD. Suzanne knows that she has a 50% chance of having inherited this gene mutation herself. She and her husband, David, are struggling with the decision of whether Suzanne should be tested, since they know that no effective treatment or cure for EOFAD exists and the probability of having inherited the gene and remaining unaffected is very small. In addition, there are implications for insurance coverage, potential discrimination by employers, and the likelihood that family and social interactions will change. And, if Suzanne carries the gene, her children have the same 50% chance of inheriting it. What should Suzanne do? Should she be tested? Questions 1. Who are the characters in this real-life scenario? What medical situation does each of them face? Draw a pedigree for this family, following the EOFAD trait. 2. Exactly what is Alzheimer's Disease? Is it the same as EOFAD? After looking at the PET scans in Figures 1 and 2 below and doing some reading, discuss how the brain is affected and how this leads to particular symptoms in Alzheimer's Disease. 3. What is a genetic counselor? What background/education does Suzanne have? 4. Who covers the cost of genetic testing? Is this approved by most insurance carriers? If the test is paid for by an insurance company, who owns the resulting information? 5. Why is this decision such a struggle for Suzanne and David? Explain how the implications noted at the end of Part I could impact the lives of Suzanne and her family. "Living With Her Genes" by Gildensoph, Stanford, & Wygal Page 1
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