Dad Ricci Case Study

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Dad Ricci and Mom Ricci’s understanding of the genetic health risks for their children are explained. Dad Ricci and Mom Ricci discussed genetic concerns with their physician and nurses prior to conceiving children. All genetic information pertaining to the Ricci’s and their family’s genetic history was gathered. To summarize, their familial history revealed an X-linked recessive disorder of color blindness, an autosomal recessive disorder of Wilson’s disease, and an autosomal dominant disorder of BRCA gene mutations. Although, colon cancer and heart disease can be genetically linked they are not discussed further because they are complex disorders that require many other factors to influence their occurrence. Dad Ricci and Mom Ricci received …show more content…
The Ricci’s were satisfied with the advantages of being tested themselves and the knowledge of the possibilities that they and their future children may face. According to Kaakinen, Coehlo, Steele, Tabacco, and Hanson (2015), the advantages of genetic testing include having the knowledge to prepare and ease of mind if the test is negative, reproductive autonomy, and information that impacts lifestyle and clinical decisions. The disadvantages to genetic testing are anxiety if the test is positive, guilt, concerns for the future, and changes in self-concept or perceptions of other individuals involved (Kaakinen, Coehlo, Steele, Tabacco, and Hanson, 2015). However, the main deciding factor to forego further genetic testing or other conception options relied on their religious …show more content…
Son 1 Ricci acquired Wilson’s disease, but because the parents were knowledgeable of this 25% chance, he was tested early, the disease was well-managed, and his life expectancy was not affected. The nurse ensured the Ricci’s were educated, received appropriate support and resources, and that the child was tested promptly. Son 2 Ricci received the BRCA mutation and is susceptible to breast cancer, but the Ricci’s are well educated to manage this appropriately through early screening and monitoring. Daughter 1 Ricci also received the BRCA mutation and is a carrier of the red and green color-blind gene. Likewise, daughter 2 Ricci is also a carrier of the color-blind gene because all females that the Ricci’s conceived had a 100% chance of carrying this gene. However, daughter 2 Ricci also acquired Down’s Syndrome. While the Ricci’s were educated on other factors that may change pregnancies, they were not mentally prepared for this. Down’s Syndrome is a genetic alteration that results with the disorder, but it is a trisomy 21 chromosomal disorder without an inheritance link (U.S. National Library of Medicine, 2018). The nurse assisted the Ricci’s mental well-being, educated them, provided appropriate support and resources, and the Ricci’s managed their daughters condition to the best of their