Recall 17·year-old Sarah from the chapter opening scenario. While at the sports clinic for a routine physical, she questions the nurse about the likelihood that she will acquire Hunting10n disease. Huntington disease is a progressive disorder of motor, cognitive, and psychiatric disturbances. Symptoms typically present between age 35 and 44 years. with a median survival time of 15 to 18 years after onset
Sarah’s mother, Diane, is of western European Caucasian de_ scent, Sarah’s knowledge about her father is limited. She knows that he is a third-generation Filipino American but has no medical information on him or his extended family
Sarah’s grandmother on her mother’s side has three sisters and two brothers. The two brothers died of myocardial infarctions at the ages of 37 and 55 years, respectively. Sarah’s maternal grandfather had no brothers but two sisters. Her maternal grandfather died at age 62 years of Huntington disease. The sisters are alive and well and have no medical problems.
Diane has two brothers and two sisters. She is the youngest of the siblings. Her oldest brother, Ken, was diagnosed 10 years ago with Huntington disease at age 41 years. Ken has two daughters ages 21 and 25 years. Sarah is very close to these cousins and she knows that they have no medical problems beyond seasonal allergies and migraine headaches, Diane’s other brother, Brian (age 38 years), has recently had bouts of depression and has noticed slight difficulties in coordination and involuntary movements. Brian and his wife Sally adopted a son, Dave, with Down syndrome, and he is 19 years old. Sarah’s brother is age 12 years and does not have any medical problems.
I. What further data would you gather from Sarah before referring her to a genetic specialist
2. What are the signs and symptoms of Huntington disease? The prognosis? Is it linked to any ethnic group?
3. create a family pedigree for Sarah based on the family information she has provided, What does the pedigree reveal, and what nursing actions would you plan for Sarah?
4. Should Sarah be tested at this time? Give a rationale for your answer.
