Peer review and instructor grading

Disease (inheritance pattern):
• Von Willebrand Disease (AD) • Sickle Cell Disease (AR) • Cystic Fibrosis (AR) • Fragile X (XD) • Hemophilia (XR) • (Only if your group has 6 students, will this be used: ABO blood group [Co-D], phenotype AB)

1. Instructions
   Present this case study to your discussion group by com-piling the following six numbered parts (i-6 below) into one PowerPoint document, posting it as an attachment within the group discussion area for peer review and instructor grading. The Educational packet (handout) needs to be in a separate document (Word or pdf). When

potential childrt tion (four poten identify all possi dren of the prof);
siblings). A help) gree.prozenygens
b.) developing a I is inherited, base nant and sex-link disease is recessi, the recessive gent shown in the squi.

3. When the fan for this famil and concerns evidence). Yo these questio 4. Aside from th what educati, the family as which focus a on the specifi persons. Inch levels of prey,
   MEI Module 5: Case Study

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  you choose a specific condition/disease, start a thread using the name of ‘your’ condition in the Case Studies Dis-cussion Forum for your group. When completed, you will post your case study within this same thread. Later, others in your group will comment in this thread (see “Peer Response Questions” in Part B, below).
  Provide evidence-based information for each of these (and cite and list your sources):

3. 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 Si 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 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 terminol-ogy. 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

download and include thes them yourself, citing schol; to copy and paste as long a This should be a packet (ha to this patient/family. The g educational material on the its’ inheritance that is ready with the problem. Your educ needs to be in a separate doc pdf). Here is an example you your topic was trisomy 18 or updated-8-15-14.Pdf Actions
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5. What referrals will you make community for advanced gene . counseling, and support for the Provide a clear and accessible li learn referral sources for potei ‘real’ nursing 6. What special considerations w I include as you educate and refer Include possible ethical, religic
   potential children of each person in the proband’s genera-tion (four potential children provide the opportunity to identify all possibilities for genetic inheritance for chil-dren of the proband’s
   siblings). A helpful tool may be found at https://pedi-gree.progenygenetics.corn (Links to an external site.)/ b.) developing a Punnett square to show how the disease is inherited, based on its’ single-gene recessive or domi-nant 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.
6. 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 i8 or 13: Carebook-updated-8-s5-14.pdf Actions
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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

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