Perceptions of Palliative Care in Huntington’s Disease: A Qualitative Study

Abstract

Introduction:

Palliative care focuses on improving patient and family quality of life by managing symptoms, psychosocial issues and spiritual concerns. Huntington’s disease is a progressive neurodegenerative disorder with no current disease modifying therapy. Although the palliative care model has been postulated to be an integral part of HD care, there are gaps in knowledge about how this care should be implemented. This study aims to identify perceptions of palliative care in Huntington’s Disease (HD), palliative care needs of people living with HD, and at what point they feel they would benefit from these resources.

Methods:

Participants volunteered from a large academic institution patient base to be involved in semi structured interviews that explored patient and caregiver experience surrounding their diagnosis, disease management, quality of life, and areas for improvement. Inclusion criteria for participants was a diagnosis of Huntington’s disease and/or a self-identified caregiver of a person living with the disease.

Results:

A total of 12 independent patients, three independent caregivers, and five dyads completed the interviews. Themes identified included needs that would provide patient and caregiver centered treatment, current gaps in care, an openness and desire for palliative care, and knowledge about the desired timing of palliative care in treatment plans.

Conclusion:

People living with HD and caregivers of people with HD most desire access to treatment that would focus on symptom management, availability of social resources, advanced care planning and spiritual wellbeing. The preferred timing of this intervention for most individuals would be at the onset of symptoms.

Introduction:

Palliative care aims to improve quality of life of persons with chronic illness and their families through management of medical symptoms, psychosocial issues, and spiritual well-being. [1] Palliative care that is interdisciplinary consistently demonstrates improvements in patient quality of life and cost savings. [2,3] Palliative care in neurology has been most widely studied in Parkinson’s disease (PD).[4] Kluger, et. al. described unique features of palliative care needs in PD patients including high symptom burden, grief and desire for early advanced care directives. Health related quality of life in people living with Parkinson’s disease improved with palliative care, similar to what has been seen in palliative care models of people living with cancer. [5] It is possible that each neurodegenerative condition may pose unique palliative care needs based on the progression of the illness and unique subset of symptoms.

Huntington’s disease (HD) is a relentlessly progressive, autosomal dominant, neurodegenerative disorder. The diagnosis is made with the appearance of motor symptoms, which typically occurs in midlife, however it is often preceded by neuropsychiatric symptoms and cognitive decline. [6] HD is highly penetrant, and exhibits anticipation meaning subsequent generations often have earlier onset of more severe disease, resulting in a devastating disease which impacts the family. There are currently no disease modifying treatments and management is focused on relieving symptoms with mild to moderate efficacy. [7] Given that this is a life-limiting condition and that treatment focuses on symptom relief, it has been postulated that a palliative care model for HD could be beneficial, but there are limited studies further evaluating this. [8]

This study aims to identify perceptions of palliative care in Huntington’s disease, palliative care needs of people living with HD, and at what point they feel they would benefit from these resources. We hypothesize that people living with Huntington’s disease and their caregivers will identify needs that align with a palliative care model and will desire these resources early on in their disease course. Better understanding these factors may aid in caring for patients and families with this progressive debilitating disease and help set a research agenda to develop patient and family-centered models of care.

Methods:

This was a cross-sectional qualitative study of patients and patient caregivers with a diagnosis of Huntington’s disease. We conducted qualitative content analysis to reassess the goals of this project. We used Atlas.ti to manage the data.

Informed Consent and Recruitment:

Participants volunteered from the University of Colorado’s Huntington’s Disease Center of Excellence to be involved in semi-structured interviews that explored patient and caregiver experience surrounding their diagnosis, management of their disease, quality of life, and areas open for improvement. Questions were created based on consensus and discussion from authors [Appendix A]. Inclusion criteria for participants was a diagnosis of genetically confirmed Huntington’s disease and/or a self-identified or patient-identified caregiver of a patient with confirmed genetic Huntington’s disease. Patients involved in the center were asked if interested in clinic visits and sent messages via email, and then interviews were scheduled for future dates.

Semi-structured Interviews:

Interviews were performed over Zoom^™ phone calling with recording with participants in their homes, and involved a 30 minute to one hour interview. Interviews were intended to be semi-structured with specific questions, but left time for personal comments and concerns. Interviewers were instructed to ask the questions as written, allow time for a response, and identify any need for clarifying remarks. Interviews were performed by a nurse associated with the HD clinic and a Neurology Resident, both of whom are listed as authors. Neither interviewer had relationships with the participants prior to the interviews.

Analysis:

Interviews were transcribed professionally and then uploaded into Atlas.ti^™. A code book was created using these transcripts and discussed among team members for consensus to increase interrater reliability for future coding. If there were discrepancies on this initial overview, that was discussed and resolved among team members. Coding was continually discussed and evaluated among team members as recommended by previous qualitative analysis studies. [9]

Results:

A total of 12 independent patient, three independent caregiver, and five dyadic interviews were completed. Emerging from the data were four main themes regarding Palliative Care and Huntington’s Disease.

Theme 1: Patient and Caregiver-centered Needs

When all coded responses to direct questions and inferred text related to care needs were evaluated, the majority of respondents focused on needs related to supportive services, symptom control, and advanced care planning (see Table 1 for supportive quotes).

Table 1: Palliative care themes by participant response.

This table includes the most common themes mentioned by participants in the data set. There are specific quotations from participants to support these themes, and each are divided into the respondent’s role.

Patient and Caregiver-centered Needs	Supporting Quotes	Role (caregiver, patient)
1. Supportive Services	“The problem that I have is her movement and her safety in the home. She is also beginning to have a little bit of a swallowing issue which is concerning”	Caregiver
	“One of my concerns is when we will need to make that next step to a home of some sort for her. It would be nice to know where to go, how to go, and who is best at handling Huntington patients. It would be helpful to have someone making those kinds of decisions.”	Caregiver
	“Either I become the full-time aid, but I can’t do that because I have to make money.”	Caregiver
	“I haven’t been in because I haven’t been able to pay for all of this.”	Patient
	“I do a good job from protecting myself from confronting the end-stage issues in my face. I’d rather not see those. I’d get too afraid.”	Caregiver
	“My quality of life is not ideal. It is hard to see the positive and it is easier to be negative.”	Patient
2. Symptom Control	“Her toughest symptom might be the fact that she has lost some of her cognitive skills and her speech which she gets very frustrated with since she cannot communicate properly.”	Caregiver
	“The hardest has been the depression, suicidal thinking and anxiety”	Patient
3. Advanced Care Planning	“It is really scary how many people aren’t prepared for the eventualities that the disease brings so they end up getting a, you know, pretty hard hit.”	Caregiver
	“Um, I don’t know, I feel like I am going to maybe need to make different arrangements or get closer to family or something like that. Just so that my will is being honored.”	Patient
Current Gaps in Care	Supporting Quotes	Role
1. Initial Diagnosis Experience	“I just think that before something like that, they should have more resources available for support.”	Caregiver
	“Yeah, no counseling prior or post. I just figured out my number, she said I had it and said good luck to me pretty much.”	Patient
	“Then of course we had a million questions and there was no time allocated for those questions.”	Patient
2. Lack of Provider Knowledge	“The way she presented the information to us was pretty bad, and she was unable to answer questions.”	Caregiver
	“I was really looking for, you know, some direction and some proactive measures I can take, and there was no discussion of this.”	Patient
3. Need for Genetic Counseling	“It is not a pretty disease to watch the progression of. I have watched a number of dear friends and family members progress. I am trying to have courage for my kids.”	Patient
	“I just remember slowly watching him disintegrate.”	Patient
	“The most worrying aspect is passing it to my kids and not knowing whether they have it.”	Patient

Needs related to supportive services mentioned included needs related to therapies, counseling, and social support. Needs related to physical therapy, home safety and speech therapy were frequently encountered. Statements regarding concern for physical safety due to falls or chorea as well as concern surrounding swallowing and aspiration were frequently mentioned. Counseling needs were evaluated for participants based on responses related to negative coping strategies. These included responses related to denial, social isolation, despair, loss of identity and fear of the unexpected and end of life. Social support needs often included need for financial assistance with HD specific care, and resources related to community involvement and engagement. When financial needs were mentioned, participants discussed concern centered around the ability to have insurance coverage for necessary services, the cost of special medications related to chorea without drug company support, and the cost of home health services.

When discussing needs for symptom control, cognitive, psychiatric and motor aspects of Huntington’s disease were equally represented. Oftentimes responses to symptom management needs revolved around medication options, home safety environments and changes in interpersonal relationships because of cognitive/psychiatric manifestations of disease. Frequently mentioned was the desire for assistance with advanced care planning and access to resources to aid in decision making for participants. Around half of participants had taken steps towards end-of-life planning by discussing this with a provider or a legal representative.

Theme 2: Current Gaps in Care

Current gaps in care that were brought up by participants centered around poor experience with initial diagnosis, lack of knowledge regarding their disease from medical staff, and limited access to genetic counseling. The majority of participants with these types of responses had been diagnosed prior to being seen at the Huntington’s Center of Excellence. Participants mentioned lack of informational resources at diagnosis, lack of social support, and lack of empathy from providers as reasons to poor initial experience.

In relation to the genetics of Huntington’s disease, participants expressed several concerns. Subthemes in this category included distress by watching other family members going through the disease process, concern for passing to future generations, and the need for complicated discussions regarding embryonic testing and pre-natal counseling. Watching a family member progress through a debilitating neurologic disease in mid-life leads to unique counseling needs. With Huntington’s disease, there is also a 50% chance that an effected individual would pass on the disease to their children. Several participants mentioned feelings of guilt and concern for passing their disease to future generations.

Theme 3: Openness and Desire for Palliative Care Services

In regard to participant perception of Palliative Care, several quotes are included in Table 2. The majority of responses were positive when discussing the definition of palliative care and how this may relate to Huntington’s disease treatment. Participants indicated that palliative care enhanced quality of life by providing resources for symptom management, psychological well-being and support for caregivers. Participants alluded to the multi-disciplinary approach of typical palliative care offices and how that would benefit patients with HD, in particular, discussions of psychological assistance were important. Participants mentioned a focus on overall health and well-being for patients while they progress through an incurable neurodegenerative disease. The majority of participants had a positive perception of palliative care and its possible role in the treatment of HD.

Table 2: Perception of palliative care.

Quotes taken from the data to represent the overall perception of palliative care are included in this table. The quotes are separated by role of the participant.

Perception of Palliative Care	Supporting Quotes	Role (caregiver, patient)
	“Palliative Care means enhancing your quality of life.”	Caregiver
	“Palliative Care is keeping the patient as comfortable as possible during what they are going through.”	Patient
	“Palliative Care is like a multi-phase treatment with doctors and I think psychiatrists and pretty much everybody all focusing on like the best health for the patient.”	Caregiver

Theme 4: Desired Timing of Palliative Care Services

The question of desired timing for Palliative Care services was asked outright during the interview process to get a better understanding of this component for patients. 21% of respondents desired palliative care in their treatment plan at diagnosis, 33% at onset of any symptom, 29% at onset of severe symptoms, and 17% responded that they would not desire palliative care.

Discussion:

Patients and caregivers had an overall positive perception of palliative care and would desire its components in their treatment plan. The primary needs of patients and caregivers focused on symptom control and care resources with coping strategies, finance and genetics/family planning following closely. Gaps in current care included poor initial diagnosis experience, lack of knowledge from providers and need for genetic counseling at diagnosis. Initiation of palliative care would be most preferred by people with HD and caregivers at any symptom onset of the disease rather than other times in disease course.

The primary needs of people living with HD and their families centered around symptom control, care resources and advanced care planning. Care resources most frequently alluded to included home safety needs, need for caregiver support, and need for community engagement. Participants frequently mentioned desire to plan for the future focusing on their living situation and maintaining quality of life in their own home. Other relevant needs included coping strategies and need for financial assistance.

The areas for improvement in care that were brought up by participants were poor experience at diagnosis, lack of knowledge of medical staff and limited access to genetic counseling. Participants noted extreme disappointment with the support given to them after initial diagnosis if it was not done at a multi-disciplinary center. Often mentioned was the lack of knowledge of their diagnosing provider surrounding the disease and next steps for the patients/families. Given autosomal dominant inheritance pattern of HD, patients have often had some experience with the disease prior to their diagnosis. This may negatively impact their perception of the future and provide more opportunity for support from someone with expertise in the genetics of HD. Focusing on these components of care would be helpful for improving patient and family experience surrounding the diagnosis of HD.

With initiation of palliative care at any symptom onset in HD, we may be able to prevent hospitalizations, adverse events, and disease suffering. Symptoms of distress for participants were equally divided between cognitive complaints, psychiatric complaints and motor complaints. It is not surprising that a logical thought of participants would be to include palliative care in their treatment plan at the time of symptom onset given that symptoms affect quality of life. Early intervention on these troublesome symptoms could likely improve disease experience.

Limitations of this study include small sample size, uncertain generalizability, and lack of a cognitive screening tool for affected participants. Future direction includes comparing patients who are in a palliative care model and their outcomes related to quality of life and functional capabilities to patients who are not in a palliative care model. A study with implementation of a standardized care model for diagnosis would be beneficial to patients given numerous reports of poor experience with initial diagnosis that was found as feedback to our clinic in multiple interviews. It would be helpful for people with HD and families if there were some method of widely dispersing this information to general neurologists and primary care physicians in more remote areas throughout the country where an HD Center of Excellence is not available. Understanding the benefits of early genetic counseling for persons living with HD given the unique ability to perform predictive testing, and pursue family planning prior to any symptom onset could be an important next step as well.

In conclusion, a multi-disciplinary Palliative Care model is an approach to improve quality of life in HD. There are currently many areas for improvement identified in our present care model, and patients with HD as well as their caregivers desire the components of palliative care in the treatment of their disease. Genetic counseling may be a unique component to add to the standard of care of many neurologic illnesses, especially HD. Further analysis is necessary to achieve an understanding of the best approach to care in Huntington’s disease so that quality of life can be improved for patients and families.

Highlights:

• Palliative care in patients with Huntington’s disease is desired at onset of symptoms.

• Treatment options for Huntington’s disease includes palliative care.

• Genetic counseling, spiritual care, financial resources and symptom control are important considerations in Huntington’s disease.