Question

Jeff (age 38) and John (Jeff's 18 year old son) are seeking the advice of a genetic counselor after a family member was recently diagnosed with Huntington disease, a progressive and fatal nervous system disorder that manifests itself when individuals are generally between age 30 and age 50. If Jeff has inherited the gene for Huntington disease, then there is a 50% probability that he has passed along the gene to his son John.  Jeff shows no symptoms of the disease and he prefers not to know whether or not he has the gene. However, John, who recently became engaged to his girlfriend, wants to know whether or not he possesses the gene for Huntington disease. If John is found to carry the gene, it means that Jeff also has the gene.  

Discussion Questions:

1. Do you believe that John has a right to know whether or not he carries the Huntington's disease gene despite Jeff's wishes to remain uninformed about his own status? Instead of just stating 'yes' or 'no,' be sure to explain your answer.
2. Does Jeff have the right not to know his status?
3. Would you want to know or not know? Why or why not?
4. What are the signs/symptoms and complications of Huntington's disease?

Answer 1

1. Yes. As John is planning for future family the genetic test can provide useful information.

2. Its completely his wish to know about the genetic disorder. As he is already married and having son now he can think only about his health and measures like if any appropriate treatment can be taken.

3. I would like to know as donot want an genetic disorder to run in my family. If myself or my partner are at high risk of having a child with a genetic condition, it may be possible to test the unborn child durin pregnancy to know if it is affected. It might help me to be more mentally and practically prepared.

4. Huntington disease is an inherited disorder that results in the progressive breakdown of nerve cells in brain.

Symptoms:Huntington disease usually causes movement, cognitive and psychiatric disorders

Movement disorders include Involuntary jerking, Muscle rigidity, impaired posture and balance.

Cognitive disorders include difficulty in organizing, prioritizing or focussing on tasks. Lack of impulse control and awareness of ones own behaviors and abilities.

Psychiatric disorders feeling of irritability, sadness, social withdrawl, fatigue and insomnia.

Complications: After the start of Huntington disease, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. It is often about 10- 30 years. The clinical depression associated with Huntington disease may increase the risk of suicide. Eventually a person with the disease requires help with all activities of daily living and care.