Topic 17.3. End-of-life care
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
Topic Contents
17.3 End-of-life care
17.3.1 Background
17.3.2 Considerations for end-of-life care
17.3.3 Management of end-of-life care
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
17.3 End-of-life care
Lauren Treat, Mary G. Kearney and Neal J. Weisbrod
17.3.1 Background
FRDA leads to a progressive multisystem decline with loss of ambulation after an average of 15 years and a shortened survival. In one study, mean age at death was 39 years (15), while in an earlier study, individuals with FRDA survived an average of 36 years after onset of the disease (16). By the time individuals with FRDA reach the end of life they have often accumulated significant neurological symptoms including wheelchair dependence, dysphagia, dysarthria, hearing and visual impairments, and cardiac complications such as heart failure and arrhythmias. Their increased risk of arrhythmias can lead to sudden death. Thus, end-of-life care for individuals with FRDA is generally quite complex, with high degrees of disability and dependence as well as the potential for high symptom burden.
17.3.2 Considerations for end-of-life care
Recognizing that dependence and symptom burden may be high in the final phase of life for individuals with FRDA, it is important to consider how and where care will be delivered. Some individuals may have to rely significantly on family and friends for care, while others may have the ability to engage professional help. Hospice care at the end of life can be helpful in providing patient and family-centered care, and while hospice care can be provided in many locations of care, it most often occurs in the home setting. This type of care is particularly well suited for individuals who value avoiding burdensome treatments and hospitalizations in favor of maximizing quality of life and comfort, and studies support this with a finding that individuals enrolled with hospice are much less likely to be readmitted to the hospital (17, 18).
17.3.3 Management of end-of-life care
It is challenging to be definitive about the prognosis for an individual with FRDA, but uncertainty should not be a barrier to discussing goals of care. For those seeking a comfort-focused approach, we recommend early discussion of when and how hospice care can be beneficial. For patients who are interested, this can initiate dialogue with a hospice agency and collaboration with the treating physician to determine when is the appropriate time to enroll.
It is important to note that the timing of hospice care may vary significantly between countries given the differences in eligibility requirements. For example, in the United States the Center for Medicare & Medicaid Services (CMS) lists an expected prognosis of less than 6 months as a criterion for enrolment.
Hospcie support for people with advanced heart failue with Friedreich ataxia
QUESTION: Should hospice support versus usual care be used for people with advanced heart failure with Friedreich ataxia?
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RECOMMENDATION: We suggest that people with Friedreich ataxia with advanced heart failure would benefit from hospice support when their goals align with a comfort-focused approach and the individual’s prognosis meets eligibility criteria – usually a life expectancy of 6 months or less if the disease runs its natural course.
JUSTIFICATION: While there is little evidence directly pertaining to this question, studies indicate that the readmission rate to the hospital is lower in patients with heart failure enrolled in hospice, and for those valuing low burden treatments in a familiar environment this is an important outcome. In addition, our clinical experience is that hospice care can greatly improve quality of life by providing expert symptom management and providing care in the patient’s home environment.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with advanced heart failure. Hospice enrolment criteria vary by country; however, it is worth noting that certain populations may be eligible to continue life prolonging treatments and re-hospitalization while still receiving hospice benefits. In the United States these populations include military veterans and children.
Evidence to Recommendation Table PDFLay summary of clinical recommendations for end-of-life care in Friedreich ataxia
Friedreich ataxia is a progressive multisystem condition that leads to a shortened life-span, especially for those who have heart complications (such as irregular heart rhythm and/or heart failure). For those without heart complications, as the end-of-life approaches, individuals are often dependent on people to help them with all activities of daily living. They can also have difficulty with mobility, hearing, speaking, seeing and swallowing food.
Hospice care at the end of life can be helpful in providing patient and family-centered care. This type of care is particularly well suited to individuals who value avoiding burdensome treatments and hospitalizations in favor of maximizing quality of life and comfort. However, availability of hospice care may vary between and within countries.
Why this recommendation?
There is no specific research looking at the optimal end-of-life care for individuals with Friedreich ataxia, although anecdotal information from families confirms the value of the hospice ethos, which encourages the person with Friedreich ataxia to have significant input into their end-of-life care. Since 4 in 5 deaths in Friedreich ataxia may be attributed to heart disease, we looked at end-of-life and hospice care for people with heart failure. The limited research infers that there may be benefits to hospice care in the Friedreich ataxia population. Consequently, this recommendation is based on best practice principles in helping patients receive medical care at the end of life that aligns with their expressed goals and values, and maximizes their access to resources which may improve their quality of life, such as receiving comfort-focused care at home through hospice support for patients who wish for this type of care.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
We encourage people with Friedreich ataxia and their families to engage in open dialogue with their healthcare providers about their end-of-life care preferences, particularly as the disease progresses to advanced stages. Part of this discussion may include identification of local support resources for comfort-focused care, which could occur through partnership with a hospice agency. Understanding the available resources, eligibility guidelines, and the benefits versus burdens of enrolment in hospice can be helpful for individuals with Friedreich ataxia who wish to pursue the highest degree of comfort-focused support at the end of their life.
Who is this recommendation specifically for?
This recommendation is most applicable for individuals with Friedreich ataxia and advanced disease including heart failure, particularly for those with a life expectancy of 6 to 12 months if their disease follows its natural course.
Mary G. Kearney, MD
Neurology Research Fellow, Tallaght University Hospital, Dunlavin, Wicklow, Ireland
Email: marykearney@gmail.com
Lauren Treat, MD
Assistant Professor of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA
Email: lauren.treat@childrenscolorado.org
Neal J. Weisbrod, MD
Assistant Professor of Neurology, University of Florida, University of Florida, Florida, USA
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.