this essay is over Sickle Cell Disease (AR).. the following questions must be done in the essay
#1 Identify the person most likely to show signs of the disease (phenotype), bringing it to the attention of the family. At what age is this disease likely to be demonstrated, and in what gender? What symptoms or signs are likely to bring the condition to the attention of the parents and medical professionals?
#2 To prepare yourself to talk to this family, demonstrate an understanding of the inheritance pattern for this condition by providing either a. or b. below (choose one)
a.) preparing a pedigree chart showing three generations’ risk for this disease using standard symbols and terminology. Start with current family member who is affected (proband) and provide genetic inheritance/risk for that person’s parents, the proband and three siblings, and four
potential children of each person in the proband’s generation (four potential children provide the opportunity to identify all possibilities for genetic inheritance for children of the proband’s
siblings). A helpful tool may be found at https://pedigree.progenygenetics.com (Links to an external site.)/
b.) developing a Punnett square to show how the disease is inherited, based on its’ single-gene recessive or dominant and sex-linked or autosomal characteristics. If the disease is recessive, both parents in the square will have the recessive gene. Explain the genotypic inheritance shown in the square.
#3 When the family comes to you as an RN caring for this family, what are the most likely questions and concerns they will have? List them (based on evidence). You will provide answers to each of these questions in step
#4 Aside from the pedigree chart/Punnett square, what educational resources will you provide to the family as you educate them? Use sources which focus on genetic inheritance in general and on the specific disease, appropriate for lay persons. Include primary, secondary, and tertiary levels of prevention. Don’t list websites; either download and include these resources, or prepare them yourself, citing scholarly sources. It is okay to copy and paste as long as attribution is cited. This should be a packet (handout) ready to give to this patient/family. The goal is to include educational material on the specific disease and its’ inheritance that is ready to deliver to a family with the problem. Your educational material needs to be in a separate document (Word or pdf). Here is an example you might have used if your topic was trisomy 18 or 13: Carebook-updated-8-15-14.pdf
#5 What referrals will you make in your local community for advanced genetic testing, genetic counseling, and support for the condition? Provide a clear and accessible list. A goal is to learn referral sources for potential use in your ‘real’ nursing
#6 What special considerations will you need to include as you educate and refer these clients? Include possible ethical, religious, financial, and cultural issues which the family may face as they deal with this condition. These may be based on family’s culture, proband’s age, and/or potential inheritance of the condition by future children or future.
#7 Sources: List all sources used and cited in preparation of this case study in an APA-format references.
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