Identify three generations of one family (male/female, age, role in the family such as son/daughter, father, mother, grandmother, grandfather). You may use grandparents, parents, and children. Be sure to find a family with children.

 

Mr. and Mrs. Queens are African Americans parents with two children, 7-year-old Lisa and a 3-year-old Robert. The family lives in Chicago with the parents of Mr. Queen who are both alive. Mrs. Queen’s father died eight years ago and her mother is currently living in Virginia with her second husband. Mr. is 41 years old while Mrs. Queen is 38 years old. Mr. and Mrs.

Queen visited our genetic clinic after being referred to us by their local pediatric geneticist. Their would-be second daughter was diagnosed with a lethal unbalanced chromosome rearrangement and died in the intensive care shortly after being born. As a result, the clinic decided to conduct a full genetic assessment of the family to check for any chromosomal imbalanced arrangement in the family.

On the first day of the assessment, Mr. Queen’s mother, Mora – now 68 years old, join them and the doctors were to surprise to see her since she was one of our patients with Huntington disease. Further genetic assessment found out that Mr. Queen’s brother, Terry, and uncle, Raphael had a rare balanced reciprocal translocation. This gave the possibility that future pregnancies for Mrs. Queen could result in Huntington disease and the chromosomal translocation.

The couple also reported that their son, Robert, was diagnosed with sickle cell anemia and he has been under treatment. When Mrs. Queen’s mother, Felicity, was called in, she confirmed that her elder brother and a cousin died of sickle cell anemia at ages 22 and 26 respectively. The couple seemed concerned for their future generation and were hoping for any intervention which could remedy the situation. They know their children were at risk of sickled anemia from Mrs. Queen Family but were unaware of any chromosomal abnormality.

In case of any heritable diseases in the family lineage, couples may weigh their options on having children. For instance, in the case of Mr. and Mrs. Queen, it is evidenced that their children and descendants are at a risk of conducting sickle cell anemia and Huntington disease. With this knowledge, the nurse would recommend that they see a genetic counselor for more help on prevention and reproduction options (Moyer, 2014). Sickle cell anemia and Huntington disease are genetic problems that are hard to prevent from being inherited by offspring once the parents have such genes (Bouchghoul et al., 2016).

However, parents can explore other options such as not to have children, adopt children, or screening in the early stages of the pregnancy (Hershberger et al., 2016). According to Bouchghoul et al. (2016), the detection of sickle cell in the fetus during pregnancy is important because other options that can prevent the disease’s severity are available. For example abortion or blood transfusion in the case of sickle cell anemia.

Parents need to understand their families’ genetic health history. This enables a couple to know any genetic problem that may be in the family. Consequently, they will have the opportunity to make informed decisions on the options they have. Doctors can also advise such patients on the best treatment options and recommend the best interventions. Therefore, nurses should have genetic and genomic knowledge as well.

Reference

• Bouchghoul, H., Clément, S. F., Vauthier, D., Cazeneuve, C., Noel, S., Dommergues, M., & Durr, A. (2016). Prenatal testing in Huntington disease after the test, choices recommence. European Journal of Human Genetics, 24(11), 1535-1540.