Genetics and genomic information collected and compiled by nurses regarding families is essential in determining their genetic and medical histories. With this information, the nurse in liaison with a physician can specify a regimen of medication to bolster the health outcomes of the family and any affected member. According to Calzone et al. (2010), genetics and genomics are fields applicable across the entire spectrum of health care and all health professionals, including nurses and their profession. As such, a nurse can identify the hereditary characteristics of a family by studying genetic information from the family’s ancestors down the family tree to the current generation. By doing so, the nurse can identify potential risks of genetic inheritance patterns and recurrence risks. Therefore, the nurse can specify lifestyle activities, screening recommendations, and reproduction options. Thus, this discourse is aimed at studying a friend’s family dealing with Down syndrome while ascertaining origins from the perspective of the family’s genetic history from three generations (Grandparents, parents, and children).
Family Members and Health History
Jacob’s family generally called the Roberts, is made up of six members. Jacob is lucky to have a grandmother at the age of 75 years, the only surviving grandparent from both sides of the parents. Jacob’s mother Jane is 45 years old and nurturing their recent addition to the family Chloe, a five-year-old with Down syndrome. Jacob is as well a second sibling to Sheila, the first-born daughter currently working with the father Robert in their family company as an analyst. Other than old age and weakness, the grandmother, Teresa, satisfies the health spectrum of individuals her age. However, during her middle age, she was diagnosed with high blood pressure, which through medications and regular nurse checks she and the family have managed to keep under control. Nonetheless, Teresa, during her pregnancy with Jane, she was screened for genetic disorders and was found to be a carrier of the translocated trisomy 21 chromosome responsible for Down syndrome.
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While Jane’s father (Jacob’s grandfather) did not have the genetic anomaly, the translocated gene was transferred to Jane but only as a carrier, which she discovered during her pregnancy with Chloe, following a genetic screening. Robert, on the other hand, was found to be genetically normal with no other medical conditions. Other than Chloe’s disorder, all other children to the family (Jacob and Sheila) are medically okay without a history of disorders other than the regular infections that have no adherence to genetics or heredity. Jane was oblivious of her mother’s genetic condition, and this only became apparent when she was screened while pregnant with Chloe when the doctor asked about her family history. Coupled with her age when she conceived Chloe, Jane proffered a high-risk potential for Down syndrome passed down to Chloe.
Family Members Ethnic Background, Reproductive History, & Growth and Development
Following the genetic screening of the Roberts’ extended family, the paternal side was found to be healthy with no reproduction and hereditary incidences. On the maternal side, from the five children born of Teresa; two, Jane and the brother Philip were found to be carriers of the translocated chromosome responsible for Down syndrome. This posed a potential risk of Down syndrome in both Jane’s and Philip’s lineage, which was expressed in Chloe. The kids, Sheila (26 years), Jacob (17 years), and Chloe (5 years) do not yet have a reproductive history because of their age and the fact that they have not yet started a family of their own as in Sheila’s case.
Despite ethnic minorities less likely to make an informed decision and indulge in antenatal care and health care services such as genetic screening, (Peters et al., 2018), Down syndrome affects individuals from all ethnic groups and economic standards. As such, the above assertion explains why despite the family’s ethnic background being purely Caucasian and of the middle class, the translocated gene has been inherited from the grandmother to the mother and finally expressed in Chloe.
Regarding growth and development, of all the family members, Chloe stands out in terms of the effect from the copy of the 21 st chromosome responsible for her condition. Intellectually, she seems to have suffered moderately, but her physical development and growth evidence all the traits of the syndrome. She has a flat facial profile, small ears, a protruding and heavy tongue, with eyes slanted upwards. She also has a tiny head, almost like that of a one-year-old baby, which is typical of the extra genetic material that causes developmental delays. Comparatively, Jacob and his sister do not share the same features; they are fully developed and standard for their ages. Also, despite her wrinkled skin, arched back, and grey hair, Teresa as well fits the profile of individuals her age, same for Mr. and Mrs. Robert.
Family Understanding of Genetic Health Risks
According to Gallo, Angst, & Knafl (2009), the nature of the condition as well as the child’s development stage determines the parents’ disclosure regarding the genetic information or hereditary condition to the children; most do it when the children are above 15 years. On this accord, since Jacob and Sheila are above the age threshold, Robert, the wife, and Teresa made the decision last year to inform them of the family’s genetic history seeing that Chloe’s features were becoming more profound and hard to ignore. Following their discussion and fears whether they or their children would be affected, Robert asked Jacob and Sheila to avail themselves for genetic screening to ascertain if they carried the maternal genetic anomaly –the results were negative.
Genetic Health Risk and Nursing Intervention Strategies
Focusing their attention on Chloe, Jacob and Sheila inquired if she would be okay and if she would lead a healthy life. On this, Robert indulged the family nurse from whom Jacob and Sheila gained knowledge and understanding regarding how to take care of Chloe best mentally, medically, and emotionally to improve her health outcome. Ultimately, the nurse informed them that with proper medical and family care, Chloe could lead a normal and healthy life up to or beyond sixty years.
Given the health risks associated with genetic disorders such as Down syndrome, nursing intervention is as fundamental and crucial as treatment. In children such as Chloe’s case, early intervention is vital to avoid mental retardation as the syndrome’s most common effect. Children like Chloe always evidence delayed vocabulary and language development, and as such, the family nurse can recommend to the parents and siblings to often maintain a learning environment for Chloe. For instance, knowing the importance of translating gestures into words and labels, the nurse, as according to Dimitrova, Ozcaliskan, & Adamson (2016), can recommend the parents to translate Chloe’s gestures into words from which she can learn and develop language.
Additional nursing intervention is teaching the family how to maintain Chloe’s hygiene as well as how to feed her as a way of boosting her health. The nurse can also offer counselling services to the parents if he or she is certified or instead refer the family to therapy on how to handle Chloe while at the same time maintaining cohesion in the family. Further, the nurse should ensure routine medication and teach this to the family in the bid to avoid congenital heart defects in Chloe, which is a significant risk for such individuals.
Conclusion
Down syndrome may be a rare genetic disorder, but its occurrence has no regard for ethnicity or economic class and standard. From the family’s genetic history above, it is evident that Down syndrome manifests based on the translocation of the 21 st chromosome and the age of the maternal parent. However, despite certain risks such as mental retardation and congenital heart defects, individuals with Down syndrome can live a happy and healthy life with proper nurse and family interventions. These include maintaining a learning environment, appropriate medications, and proper nutrition as well as hygiene.
References
Calzone, K. A., Cashion, A., Feetham, S., Jenkins, J., Prows, C. A., Williams, J. K., & Wung, S. F. (2010). Nurses transforming health care using genetics and genomics. Nursing Outlook , 58 (1), 26. Doi:10.1016/j.outlook.2009.05.001
Dimitrova, N., Özçalışkan, Ş., & Adamson, L. B. (2016). Parents’ translations of child gesture facilitate word learning in children with autism, Down syndrome and typical development. Journal of Autism and Developmental Disorders , 46 (1), 221-231. Doi: 10.1007/s10803-015-2566-7
Gallo, A. M., Angst, D. B., & Knafl, K. A. (2009). Disclosure of genetic information within families: how nurses can facilitate family communication. The American journal of nursing , 109 (4), 65. Doi:10.1097/01.NAJ.0000348607.31983.6e
Peters, I. A., Heetkamp, K. M., Ursem, N. T., Steegers, E. A., Denktaş, S., & Knapen, M. F. (2018). Ethnicity and Language Proficiency Differences in the Provision of an Intention to Use Prenatal Screening for Down syndrome and Congenital Anomalies. A Prospective, Non-selected, Register-Based Study in the Netherlands. Maternal and child health journal , 22 (3), 343-354. https://doi.org/10.1007/s10995-017-2364-2
