Topic 17.1 Advance care planning

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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

17.1 Advance care planning
17.1.1 Background
17.1.2 Benefits of ACP

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.


17.1 Advance care planning

Lauren Treat, Mary G. Kearney and Neal J. Weisbrod

17.1.1 Background

Friedreich ataxia (FRDA) is a progressive neurological condition where the person loses their ability to care for themselves and may often be unable to communicate their wishes about their care when the disease is at an advanced stage. Advance care planning (ACP) can help the person with FRDA to be in control of their care by expressing their values and preferences surrounding health care decisions. There is no published literature on ACP in FRDA. However, there is evidence from other progressive and life-threatening illnesses that ACP increases compliance with patients’ end-of-life wishes, decreases the use of life-sustaining treatment, increases hospice and palliative care and reduces hospitalizations (1). However, health care professionals in general may not be familiar with the communication skills needed to discuss ACP (2).

17.1.2 Benefits of ACP

ACP allows a person with FRDA to retain control over their future treatment and management and improve the likelihood of receiving care which matches their own goals. People react in different ways to discussing ACP. A small study of people with advanced multiple sclerosis showed that some were able to make clear decisions, some undertake planning without a clear advance directive and some are still ‘hoping for a cure’ and do not wish to look ahead (3). The European guideline on palliative care for people with progressive multiple sclerosis (4) suggests that:

  • ● early discussion of the future with ACP should be offered to people with severe disease
  • ● regular communication about the future progression of the disease is undertaken with patients and families/caregivers.


These good practice statements could be adopted for those with FRDA in conjunction with discussing with the individual the rationale and benefits of ACP, while avoiding coercing them into a conversation they are not ready to have.

Over the last 20 years, many organizations have helped people with ACP. In the USA, one common form of advance directive is “Five Wishes” (https://fivewishes.org). It is marketed (at very low cost) as an easy to complete form to let a person’s wishes be known. In addition, it has a version appropriate for teenagers and another version for children. Information about ACP in Australia can be found at www.advancecareplanning.org.au. In Ireland, one advance directive is “Think Ahead” and it can be accessed from the Irish Hospice website (https://hospicefoundation.ie/i-need-help/i-want-to-plan-ahead/think-ahead/).“Let me decide” (http://www.letmedecide.org) is another option for ACP resources.

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Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Advance care planning

QUESTION: Should advance care planning versus no advance care planning be used for individuals who have developed major complications such as diagnosis with heart failure, difficulty ambulating, dysphagia, or barriers to communication with Friedreich ataxia?
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RECOMMENDATION: We conditionally recommend advance care planning (ACP) for individuals with Friedreich ataxia who have reached adulthood, have major complications such as heart failure, have experienced a significant change in their mobility, have dysphagia or have barriers to communication, bearing in mind that the published literature on ACP is in heart failure. ACP should also address the “future loss of dignity” by putting in place a safeguard that a person’s own values and wishes be respected in their care. This would help to implement a degree of control over a disease which is often out of the control of the person with Friedreich ataxia.

JUSTIFICATION: The Friedreich’s ataxia clinical management guideline patient and parent advisory panel felt this was a serious topic that needed to be addressed, and depending on the person’s circumstances, could be urgent. It has not been studied in those with Friedreich ataxia to date. Studies have demonstrated that an ACP program can be effective in facilitating end-of-life care consistent with patient preferences (1).

SUBGROUP CONSIDERATION: Advance care planning is more important in adults with Friedreich ataxia, particularly since the life expectancy is between 40 and 50 years of age. For children and teenagers, if there is any evidence of life-altering or life-limiting illness, ACP should be discussed with them. The parent often makes several decisions for those under the age of consent, but children can often be included in a sensitive way and assent to healthcare decisions, and teenagers can often take a more active role in decision making.

Evidence to Recommendation Table PDF
Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Given the advances in medical technology that can prolong life in the setting of advanced disease, all adults with Friedreich ataxia should consider appointing a designated healthcare representative. This person may be a trusted family member, close friend or independent advocate who will act on the authority of the person with Friedreich ataxia. It is important that the representative understands the care the person with Friedreich ataxia would like or not wish to have.

Treatment preferences can be set out in an advance care plan in case the person with Friedreich ataxia becomes disabled or unable to communicate their own wishes.

Lay summary of clinical recommendations for advance care planning in Friedreich ataxia


Friedreich ataxia is a progressive condition, which often leaves the individual dependent on others for care and can also impact one’s ability to communicate with the medical team and loved ones. It is therefore important that a person with Friedreich ataxia lets the carers know in advance about the treatments they want, as well as those they wish to avoid should they become unable to communicate their wishes.

The advance care plan (ACP) may take the form of a discussion or a written record. Ideally, it should be reviewed on an annual basis, as well as with any significant deterioration in health.

Why this recommendation?

It is suggested that advance care planning be considered for patients who have:

● reached adulthood

● developed major complications such as a diagnosis of heart failure

● had a significant change in their mobility

● developed difficulty swallowing, which often results in pneumonia

● early signs of communication difficulty.

Having a discussion about what is most important in life, including preferences to receive or avoid future interventions, improves the likelihood that care is delivered in a manner that matches an individual’s goals. Providing care individualized to a person’s values can be challenging when no care plan is in place and the person is no longer able to communicate their wishes or when an illness arises unexpectedly.

What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?

For those who are caring for someone with Friedreich ataxia, it is important to understand the wishes of the individual affected by Friedreich ataxia with respect to their medical care. While the person may not want to discuss precise details, it is important for the carer to have a general idea of their wishes, including:

● whether they want to remain at home, go to a nursing home or be admitted to an acute hospital should they become dangerously ill

● whether they wish for a feeding tube to be inserted into their stomach should they have considerable difficulty swallowing

● whether they want to receive cardiopulmonary resuscitation in the setting of cardiorespiratory arrest or instead to be allowed a natural death.

Who is this recommendation specifically for?

This recommendation is for all individuals with Friedreich ataxia, but particularly for those whose health is deteriorating or those with communication impairments that may affect their ability to communicate their wishes to carers and healthcare professionals.

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

1. Brinkman-Stoppelenburg A, Rietjens JA, van der Heide A. The effects of advance care planning on end-of-life care: a systematic review. Palliat Med. 2014;28(8):1000-25.

2. Walter HAW, Seeber AA, Willems DL, de Visser M. The role of palliative care in chronic progressive neurological diseases – a survey amongst neurologists in the Netherlands. Front Neurol. 2018;9:1157.

3. Chen H, Habermann B. Ready or not: planning for health declines in couples with advanced multiple sclerosis. J Neurosci Nurs. 2013;45(1):38-43.

4. Solari A, Oliver D, Force EANGT. Palliative care in multiple sclerosis: European guideline. Mult Scler. 2020;26(9):1009-11.

5. National Institute on Aging: National Institues of Health. Palliative Care: NIH; 2020 [Available from: https://www.nia.nih.gov/health/topics/palliative-care.

6. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124(1):19-30.

7. Rogers JG, Patel CB, Mentz RJ, Granger BB, Steinhauser KE, Fiuzat M, et al. Palliative Care in Heart Failure: The PAL-HF Randomized, Controlled Clinical Trial. J Am Coll Cardiol. 2017;70(3):331-41.

8. Sidebottom AC, Jorgenson A, Richards H, Kirven J, Sillah A. Inpatient palliative care for patients with acute heart failure: outcomes from a randomized trial. J Palliat Med. 2015;18(2):134-42.

9. Brannstrom M, Boman K. Effects of person-centred and integrated chronic heart failure and palliative home care. PREFER: a randomized controlled study. Eur J Heart Fail. 2014;16(10):1142-51.

10. Wong FK, Ng AY, Lee PH, Lam PT, Ng JS, Ng NH, et al. Effects of a transitional palliative care model on patients with end-stage heart failure: a randomised controlled trial. Heart. 2016;102(14):1100-8.

11. Bakitas MA, Dionne-Odom JN, Ejem DB, Wells R, Azuero A, Stockdill ML, et al. Effect of an early palliative care telehealth intervention vs usual care on patients with heart failure: the ENABLE CHF-PC randomized clinical trial. JAMA Intern Med. 2020;180(9):1203-13.

12. Sahlen KG, Boman K, Brannstrom M. A cost-effectiveness study of person-centered integrated heart failure and palliative home care: Based on a randomized controlled trial. Palliat Med. 2016;30(3):296-302.

13. Dionne-Odom JN, Ejem DB, Wells R, Azuero A, Stockdill ML, Keebler K, et al. Effects of a telehealth early palliative care intervention for family caregivers of persons with advanced heart failure: The ENABLE CHF-PC randomized clinical trial. JAMA Netw Open. 2020;3(4):e202583.

14. Ng AYM, Wong FKY. Effects of a home-based palliative heart failure program on quality of life, symptom burden, satisfaction and caregiver burden: a randomized controlled trial. J Pain Symptom Manage. 2018;55(1):1-11.

15. Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, et al. A 22-year follow-up study of long-term cardiac outcome and predictors of survival in Friedreich ataxia. JAMA Neurol. 2015;72(11):1334-41.

16. De Michele G, Perrone F, Filla A, Mirante E, Giordano M, De Placido S, et al. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich’s disease: a retrospective study on 119 patients. Neurology. 1996;47(5):1260-4.

17. Lah S, Wilson EL, Beesley S, Sagy I, Orme J, Novack V, et al. Association of hospice utilization and publicly reported outcomes following hospitalization for pneumonia or heart failure: a retrospective cohort study. BMC Health Serv Res. 2018;18(1):12.

18. Yim CK, Barron Y, Moore S, Murtaugh C, Lala A, Aldridge M, et al. Hospice enrollment in patients with advanced heart failure decreases acute medical service utilization. Circ Heart Fail. 2017;10(3):e003335.

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.