Huntington’s Disease

 

Introduction to Huntington’s Disease

Huntington’s Disease (HD) is a serious illness that affects the brain. It gets worse over time. There are some treatments to help, but there is no cure. HD affects how people behave and feel. It can also cause problems with movement.

Symptoms

Behavioral Symptoms:

• Depression: Feeling very sad and losing interest in things.
• Mood Swings: Rapid changes in feelings.
• Violent Outbursts: Sudden anger or aggressive behavior.
• Problems with Reasoning: Trouble thinking clearly and making decisions.

Movement Symptoms:

• Twitching: Small, uncontrolled movements.
• Constant Muscle Movement: As the disease progresses, people might move all the time without control.
• Need for Assistance: In the later stages, people may need help with basic tasks like eating.

Life Expectancy and Inheritance

After symptoms start, people with HD usually live about 14 more years. The disease is passed down from parents to children in a specific way called autosomal dominant inheritance. This means if one parent has the HD gene, each child has a 50% chance of getting the disease.

Genetic Testing for Huntington’s Disease (HD)

HD is one of the toughest conditions for genetic counselors to help people with. There is no cure for HD, and it is 100% penetrant. This means if you have the gene alteration for HD, you will definitely develop the disease at some point in your life.

Deciding to Have Genetic Testing

The choice to get tested for HD is very personal. Here are some reasons why people might choose to know or not know their HD status:

Reasons to Have Genetic Testing:

1. Planning Life: Knowing if they will get HD can help people plan their future. This includes decisions about work, travel, and starting a family.
2. Reducing Uncertainty: Some people prefer to know if HD will affect them rather than live with the uncertainty.
3. Future Children: Knowing their HD status can help people understand the risks for their children. They can use reproductive options like prenatal testing or preimplantation genetic testing to avoid passing HD to their kids.

Reasons Not to Have Genetic Testing:

1. Living Without the Knowledge: Some people choose not to know if they will get HD. They prefer to make life choices without this information.
2. Timing: The right time to get tested can be important. People may avoid testing during stressful times like exams, a death in the family, or weddings. Testing is usually available only for adults.

Your Thoughts

Why do you think someone might choose to have or not have genetic testing for HD?

HD testing: How many people choose to know

Approximately how many people with a family history of HD choose to have genetic testing?

Although a genetic test is available we find that many people ‘at risk’ of developing HD decide they do not want to have the test.20%

Understanding Patel's Feelings

In the UK it is rare that genetic testing for HD would be offered on a first appointment. Because this is such a significant decision, the protocol is for patients to have a number of appointments before testing and then to be seen again in clinic for their result. However, testing protocols vary from country to country.

This means that it is unlikely that Patel will be offered testing at her first appointment. How do you think Patel might be feeling after you tell her this? Please discuss these in the comments below.

Understanding Patel's Feelings

Patel might feel a mix of emotions after learning that she won't be offered genetic testing for Huntington's Disease (HD) at her first appointment. These feelings could include:

• Disappointment: She may have been hoping to get answers quickly and is now facing a delay.
• Frustration: The waiting period and multiple appointments might feel like a hurdle when she is eager to know her status.

Counselling Perspective

As a genetic counselor, it's important to acknowledge and understand Patel's emotions without dismissing them. Here are some key points to consider:

1. Allow Expression: Encourage Patel to express her feelings of disappointment and frustration. Let her know that it’s okay to feel this way.
2. Empathy: Show empathy by listening to her concerns. This helps build a trusting relationship and shows you care about her well-being.
3. Avoid Persuasion: While it might be tempting to explain why the testing protocol is necessary and beneficial, be careful not to dismiss her feelings. Instead, acknowledge her frustrations and explain the process calmly and clearly.

Building Trust

When patients feel heard and understood, they are more likely to be open to your perspective. Here’s how you can foster this trust:

• Active Listening: Pay close attention to what Patel says and reflect her feelings back to her. This shows that you are truly listening.
• Support: Offer support by validating her feelings and providing clear information about the next steps.
• Patience: Be patient with her reactions and allow her time to process the information.

Final Thoughts

Patel's feelings of disappointment and frustration are valid. By showing empathy and understanding, you can help her navigate this challenging time and maintain a positive therapeutic relationship

Genetic Counseling for Huntington's Disease (HD)

Discussion Points for the First Appointment with Patel

During the first appointment with Patel, a genetic counselor might discuss several key issues to ensure she understands the process and implications of genetic testing for HD. Here are some important points to cover:

1. Managing Expectations:

• Understanding Expectations: Ask Patel what she is expecting from the session and what she hopes to achieve. This helps to align her expectations with what can realistically be provided.
• Addressing Expectations: If Patel expects to have the genetic test immediately, explain the protocol and why multiple appointments are necessary. This helps to manage her expectations and prepare her for the process ahead.

2. Previous Experience:

• Family History: Discuss Patel's experiences with HD in her family. Understanding her father's condition and its impact on the family can provide insight into her reasons for seeking testing.
• Emotional Impact: Explore how living with HD in the family has affected her emotionally and mentally. This helps to understand her motivations and concerns about testing.

3. Reaction to Test Results:

• Positive Result: Ask Patel how she might feel if she tests positive for the HD gene alteration. This can help her prepare for the emotional impact of a positive result.
• Negative Result: Discuss how she might feel if she tests negative. Sometimes a negative result can lead to feelings of guilt, especially if other family members are affected. It might also mean she would be expected to care for affected relatives.

4. Timing:

• Why Now?: Ask Patel why she has chosen this time to seek genetic testing. Understanding her timing can provide context for her decision and help to address any immediate concerns or motivations.

5. Accuracy of the Test:

• Risk Assessment: Confirm whether Patel is indeed at risk of inheriting HD. Verify her father's diagnosis to ensure it was based on genetic testing and not just clinical observation. Discuss the possibility of other neurological conditions if genetic testing was not done.

Conclusion

By addressing these issues, the genetic counselor can help Patel understand the complexities of genetic testing for HD and prepare her emotionally and mentally for the process. This comprehensive approach ensures that Patel is well-informed and supported throughout her journey.

Patel's story continues

We continue with Patel’s story: Patel tells you that she has come today because she wants to plan her life. She has been with her partner for about a year now and she is deciding whether or not to stay with him. She tells you that she has decided that if she tests positive for the HD mutation she will leave her partner. She says she doesn’t want to put him through what she went through with her father, and she definitely doesn’t want a family if she tests positive.

Her partner is aware that her father has a neurological problem but doesn’t know the specific diagnosis or that this is an inherited condition. Patel tells you that she wants to keep it this way. She’ll tell him, she says, if she tests positive and he then needs to know. Otherwise, she argues “why worry him?”

Discuss in the comments below, how you might respond to what Patel has said?

Responding to Patel's Story

Patel’s story brings up several important points that need careful handling. Here’s how a genetic counselor might respond:

1. Acknowledge Patel’s Feelings:

• Empathy: Start by acknowledging Patel’s feelings and the tough decisions she faces. “It sounds like you’ve been through a lot with your father’s condition, and you’re trying to protect your partner from the same experience. That’s understandable.”

2. Exploring Motivations:

• Decision Making: Gently explore why Patel feels she needs to leave her partner if she tests positive. “Can you tell me more about why you feel you need to leave your partner if you test positive? It might help to talk through this decision.”

3. Discussing the Impact of Secrets:

• Open Communication: Discuss the potential impact of keeping this information from her partner. “Keeping this information private might seem like a way to protect him, but it could also affect your relationship in the long run. How do you think he might feel if he finds out later?”

4. Considering Support:

• Support Systems: Emphasize the importance of having a support system, especially if she tests positive. “Having someone to support you through this can be very important. Your partner might want to be there for you, even if it’s difficult.”

5. Long-term Implications:

• Family Planning: Talk about her views on family and how a positive result might influence her decisions. “It’s great that you’re thinking ahead about family planning. There are options available to reduce the risk of passing HD to children. Would you like to know more about them?”

6. Informed Decisions:

• Information Sharing: Stress the importance of her partner being fully informed to make decisions together. “Your partner knowing about the risk might help you both make more informed decisions about your future together.”

7. Emotional Support:

• Counseling Services: Offer additional support and counseling services. “We have resources and support groups for both you and your partner if you need them. Would you be interested in exploring these options?”

Final Thoughts

Patel’s situation is complex, and the genetic counselor’s role is to support her through these decisions without pressuring her. By providing information, empathy, and support, the counselor can help Patel navigate her choices regarding genetic testing, her relationship, and her future.

Genetic Counselling, Further Considerations

Following what Patel has told you there would be a lot to explore in her clinical consultation

First, as a genetic counsellor you might want to pick up on her feelings about not having children if she has the gene alteration. You might wish to clarify a couple of things here. Is Patel worried as she doesn’t feel she could cope with having HD and also raising children? Or is it that she doesn’t want to pass on HD to her children? It might be worth talking to Patel about some of the different reproductive options, such as prenatal testing or PGD and how she feels about these. As a genetic counsellor you may wish to be mindful about what issues might be raised by coming for testing. Examples could include childhood traumas, difficult relationships, bereavement etc.

However, a more pressing issue might be the potential impact of a positive test on Patel. Remember, ‘positive’ in terms of genetic testing means having the gene alteration that causes disease. Patel is talking about ending a long-term relationship. She also has told you that a positive result would mean she would choose not to have children. As a genetic counsellor you might want to explore if Patel wanted to come with her partner to discuss the testing. Additionally it would be important to talk about her feelings and whether she might need any extra support if she got a bad news result.

Genetic counselling can be seen as a short-term form of psychotherapy. However, there are many times when genetic counsellors are limited by our professional boundaries and also our time. It might be worth, in some circumstances, involving other healthcare professionals such as clinical psychologists and psychiatrists to support patients who are severely struggling with the emotional impact of genetic testing.

What do you think would be the important things to discuss with Patel at this point in her journey?

Important Discussions with Patel

As a genetic counselor, there are several important topics to discuss with Patel, given her situation and the potential impact of the genetic test results for Huntington's Disease (HD). Here’s a comprehensive approach to addressing her concerns:

1. Clarifying Concerns About Having Children:

• Understanding Her Worries: Ask Patel if her decision not to have children is because she doesn’t feel she could cope with HD while raising children, or if it’s primarily about not wanting to pass on the disease. “Can you share more about your thoughts on having children if you test positive? Is it about managing HD while raising children, or concerns about passing it on?”
• Reproductive Options: Explain the available reproductive options, such as prenatal testing or preimplantation genetic diagnosis (PGD). “There are ways to reduce the risk of passing HD to your children, like prenatal testing or PGD. Would you like to know more about these options?”

2. Potential Impact of a Positive Test:

• Emotional Impact: Explore how Patel might feel if she tests positive. “How do you think you would cope if the test result is positive? It’s important to consider the emotional impact.”
• Relationship Impact: Discuss the potential effect on her relationship. “You mentioned ending your relationship if you test positive. How do you think your partner would react? Have you thought about discussing this with him beforehand?”

3. Support Systems:

• Involving Her Partner: Suggest the possibility of her partner being involved in the discussion about testing. “Would you feel comfortable bringing your partner to discuss the testing process? It might help him understand and support you better.”
• Additional Support: Talk about the availability of extra support if she receives a positive result. “If the result is positive, you might need additional support. We can connect you with support groups, clinical psychologists, or psychiatrists to help you through this.”

4. Professional Boundaries and Support:

• Referral to Other Professionals: Recognize the limits of genetic counseling and suggest referrals if needed. “While genetic counseling can provide short-term support, we might need to involve other healthcare professionals like clinical psychologists or psychiatrists if the emotional impact is severe. Would you be open to this kind of support?”

5. Exploring Past Experiences:

• Impact of Past Experiences: Discuss any past traumas or difficult experiences that might be influencing her decision. “Have your past experiences, such as childhood traumas or difficult relationships, influenced your decision to get tested now?”

Summary

By discussing these points, you can help Patel make an informed decision about genetic testing and prepare her for the possible outcomes. This approach ensures that Patel feels supported and understood throughout her journey.