A Genetic Disorder

Lauren has been a pediatric nurse at a children’s hospital for the past 7 years. Recently she began a new job as a nurse in a genetics office. One of today’s cases involves Emily and Brad Davis. Emily is a young white female who looks to be in her mid-twenties. Her husband, Brad, is a young white male. Lauren notices the young woman is pregnant, most likely sometime in her mid-trimester. (Learning Objectives 4 and 6) Lauren introduces herself and explains that she needs to obtain a complete medical history from the couple. When the history is complete, Lauren finds the following pertinent facts: Emily, age 27, and Brad, age 29, have been married for 6 years. They have a 4-year-old daughter who was recently diagnosed with cystic fibrosis. Emily is currently 28 weeks pregnant. The couple is very worried that their unborn child may have cystic fibrosis. No person in either immediate family has cystic fibrosis. A cousin on Emily’s mom’s side of the family has cystic fibrosis. Brad has no known cases of cystic fibrosis in his family; however, he recalls a great uncle on his dad’s side who was ill most of his life and died at age 9.   a. What type of genetic disorder does cystic fibrosis fall under? Why doesn’t Emily, Brad, or any of their siblings have this disorder? What are the odds that the Davises’ unborn child will have this disorder?   b. What would you tell the Davis couple about planning for future children?   c. What do you think about the history of the great uncle who died at age 9? Rubric Some Rubric Some Rubric Criteria Ratings Pts This criterion is linked to a Learning Outcome Structure • Organization • Flow of thought • Transitions • Format 2.0 pts Meets Expectations Paper has a clear organizational structure with some digressions, ambiguities or irrelevances • Easily followed • Basic transitions • Structured format 1.0 pts Needs Improvement • There is some level of organization though digressions, ambiguities, irrelevances are too many • Difficult to follow • Ineffective transitions • Rambling format 0.0 pts Inadequate • There is no apparent organization to the paper. • Difficult to follow • No or poor transitions • No format 2.0 pts This criterion is linked to a Learning Outcome Grammar/mechanics of criterion sentence structure • punctuation/mechanics 2.0 pts Meets Expectations • Uses complex sentences • Few punctuation or mechanical errors 1.0 pts Needs Improvement • Uses compound sentences • Too many punctuation and/or mechanical errors 0.0 pts Inadequate Uses simple sentences 2.0 pts This criterion is linked to a Learning Outcome Language • Vocabulary; use of vocabulary • Tone 2.0 pts Meets Expectations • Vocabulary is varied, specific and appropriate • Frequently uses subject specific vocabulary correctly 1.0 pts Needs Improvement • Vocabulary is used properly though sentences may be simple •Infrequently uses subject specific vocabulary correctly •Writers tone exhibit some level of audience sensitivity 0.0 pts Inadequate •Vocabulary is unsophisticated, not used properly in very simple sentences •Uses subject specific vocabulary too sparingly 2.0 pts This criterion is linked to a Learning Outcome Content/information •Clarity of purpose • Critical and original thought •Use of example 2.0 pts Meets Expectations •Central idea and clarity of purpose are generally evident throughout the essay •Evidence of critical, careful thought and analysis and/or insight •There are good, relevant, supporting examples and evidence 1.0 pts Needs Improvement •The central idea is expressed though it may be vague or too broad; Some sense of purpose is maintained throughout the essay •Some evidence of critical careful thought and analysis and/or insight 0.0 pts Inadequate Central idea and clarity of purpose are absent or incompletely expressed and maintained Little or no evidence of critical, careful thought or analysis and/or insight There are too few, no examples and evidence or they are mostly irrelevant 2.0 pts This criterion is linked to a Learning Outcome Focus 2.0 pts Meets Expectations Apparent point made about a single topic with sufficient awareness of topic 1.0 pts Needs Improvement Minimal evidence of the topic 0.0 pts Inadequate No evidence of the topic 2.0 pts Total Points: 10.0

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