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“The Whole Game is Changing and You’ve Got Hope”: Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy

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Abstract

Introduction

The natural history and treatment of spinal muscular atrophy (SMA) is currently being transformed by the development and availability of novel therapies, with significant related changes in practice. This not only has important implications for the health and wellbeing of patients with SMA and their families, as well as improves the quality of care.

Objective

The present study aimed to investigate the processes and factors that influence treatment and healthcare decisions for children and adults with SMA and their families and healthcare providers.

Methods

Four focus groups comprising adults, or parents of children and adolescents, with SMA and an expert panel of healthcare providers (N = 25) explored experiences of SMA, its treatment and related decision making and expectations for future care. Group discussions were recorded and transcribed verbatim for thematic analysis using NVivo12.0.

Results

People with SMA, their families and healthcare providers described confronting complex healthcare decisions in the context of a rapidly changing SMA treatment environment. Across all groups, five key themes were identified: hope, yearning and searching, patient-centred care and support, community and a sense of connectedness and weighing up potential treatment benefits and costs. Essential to these themes was the notion of what it means to live with SMA and complexities relating to ‘quality of life’.

Conclusion

Identifying and more deeply understanding the factors that influence patient, family and healthcare providers’ decision making regarding SMA treatment is an important first step in improving the quality of patient- and family-centred care and in informing clinical practice and future health policy incorporating personalized medicine and optimal supportive and mental health care.

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Acknowledgements

Sincere thanks must go to all study participants for so generously sharing their time and stories.

Author information

Author notes

  1. Nadine A. Kasparian and Richard De Abreu Lourenço: Joint Senior Authors.

Authors and Affiliations

  1. Discipline of Paediatrics, School of Women’s and Children’s Health and Sydney Children’s Hospital, UNSW Medicine, The University of New South Wales Sydney, High Street Randwick, Sydney, NSW, 2031, Australia

    Michelle A. Farrar, Kate A. Carey & Sarah-Grace Paguinto

  2. Department of Neurology, Sydney Children’s Hospital Randwick, Sydney, NSW, 2031, Australia

    Michelle A. Farrar

  3. Harvard Medical School, Harvard University, Boston, MA, USA

    Nadine A. Kasparian

  4. Department of Cardiology, Boston Children’s Hospital, Boston, MA, USA

    Nadine A. Kasparian

  5. Centre for Health Economics Research and Evaluation, University of Technology Sydney, Sydney, Australia

    Richard De Abreu Lourenço

Authors
  1. Michelle A. Farrar
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  2. Kate A. Carey
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  3. Sarah-Grace Paguinto
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  4. Nadine A. Kasparian
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  5. Richard De Abreu Lourenço
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Contributions

MF was responsible for conceptualization and design of the study, data analysis and drafting the manuscript for intellectual content. KC, NK and RDAL were responsible for conceptualization and design of the study, data collection, data analysis and revision of the manuscript for intellectual content. SGP designed the study, performed data analysis and revised the manuscript for intellectual content.

Corresponding author

Correspondence to Michelle A. Farrar.

Ethics declarations

Funding

Support for this research was provided by a Sydney Children’s Hospital Foundation research Grant. The funding source did not have a role in the study design, collection, analysis, and interpretation of the data, in the writing of the article, or in the decision to submit it for publication.

Conflict of Interest

Associate Professor Farrar has served on the scientific advisory board for Biogen and received grant support from the Motor Neurone Diseases Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship (152324). Professor Kasparian is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (101229) and a 2018–2019 Harkness Fellowship in Health Care Policy and Practice from the Commonwealth Fund. Dr Carey, Ms Paguinto and Associate Professor De Abreu Lourenço have no conflicts of interest that are directly relevant to the content of this article.

Ethics approval

This study was conducted in accordance with the principles of the 1964 Declaration of Helsinki and its later amendments. The institutional review boards, the Sydney Children’s Hospitals Network Human Research Ethics Committee and the University of Technology Sydney Human Research Ethics Committee approved the study (HREC/17/SCHN/227, ETH17-1967).

Consent to participate

All participants provided written informed consent to participate in the focus groups and for the coded data of their focus groups to be used for analysis and submitted for publication.

Data availability

The data are not publicly available because they contain information that could compromise interviewees’ privacy and consent.

Appendix 1

Appendix 1

1.1 Researcher characteristics

Member (credentials)

Occupation at time of study

Gender

Experience and training

Relationship to interviewees

MF (MBBS (Hons), FRACP, Ph.D.)

Paediatric Neurologist

Female

 > 10 years experience in research, > 15 years experience in child neurology

Previous interactions with some participants due to clinical role. Did not attend or participate in focus group discussions

KC (Ph.D.)

Research scientist

Female

10 years experience in scientific research

Previous interactions with some participants due to other research studies. Did participate in focus group discussions

S-GP (MPhil)

Occupational Therapist

Female

5 years experience in clinical and scientific research

Previous interactions with some participants due to clinical role. Did not attend or participate in focus group discussions

NK (BA, Ph.D., MAPS)

Associate Professor (UNSW), Head of Psychology (Heart Centre for Children)

Female

15 years experience in clinical and research psychology

No prior relationship to interviewees. Facilitator of focus group discussions

RDAL

Associate Professor, Centre for Health Economics Research

Male

15 years experience in health economics, interest in specialty health areas, patient preference and quality of life, and priority setting

No prior relationship to interviewees. Facilitator of focus group discussions

1.2 Focus Group Discussion Guide

Rules of Engagement:

  1. 1.

    Is everyone comfortable in being recorded?

  2. 2.

    Introduce the research team

  3. 3.

    There are no right or wrong answers, everyone who wishes to contribute to a point is encouraged to do so.

  4. 4.

    If you feel that things are getting too much and you need a break, please feel free to step out. As we are recording, please leave the room if you need to take any clinical calls. If you feel that you are unable to come back into the room for any reason, that is ok.

  5. 5.

    Even though we are taping our discussion, nothing you say will be linked back to you personally. The information we gather today will be combined and reported as being anonymous.

  6. 6.

    It is important information because it will help us to understand what is important to clinicians when they think about SMA and its treatment. We’ll use that information to assist us in understanding what is valued about SMA treatment and how we might provide SMA services in the future.

Overview To gain an understanding of the factors important to patients, carers and clinicians when making decisions about Spinal Muscular Atrophy treatment

1.3 Discussion

  1. 1.

    When you think about SMA, what comes to mind?

    • Invite participants to describe their experiences of caring for a child with SMA?

  2. 2.

    What have been your experiences with decisions about treatment for SMA?

  3. 3.

    What sort of information was useful in making those decisions? What wasn’t?

  4. 4.

    What were the driving factors in the decisions you made?

    • What made those factors important to your decision?

  5. 5.

    What do you see as the future of SMA treatments?

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Farrar, M.A., Carey, K.A., Paguinto, SG. et al. “The Whole Game is Changing and You’ve Got Hope”: Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy. Patient 13, 389–400 (2020). https://doi.org/10.1007/s40271-020-00415-w

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  • DOI: https://doi.org/10.1007/s40271-020-00415-w

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