'Staying strong on the inside and outside' to keep walking and moving around: Perspectives from Aboriginal people with Machado Joseph Disease and their families from the Groote Eylandt Archipelago, Australia.

Jennifer J Carr,Ruth N Barker,Alan R Clough,Joyce Lalara,Anne Lowell,Kate E Pope,Libby Massey,Nick Kenny,Gayangwa Lalara,Gloria O’Hare

doi:10.1371/journal.pone.0212953

Abstract

Machado Joseph Disease (MJD) (spinocerebellar ataxia 3) is a hereditary neurodegenerative disease causing progressive ataxia and loss of mobility. It is the most common spinocerebellar ataxia worldwide. Among Aboriginal families of Groote Eylandt and related communities across Australia’s Top End, MJD is estimated to be more prevalent than anywhere else in the world. This study explored lived experiences of individuals and families with MJD to determine what is important and what works best to keep walking and moving around. A collaborative qualitative exploratory study, drawing from constructivist grounded theory methods, was undertaken for data collection and analysis. Semi-structured in-depth interviews were conducted with individuals with MJD (n = 8) and their family members (n = 4) from the Groote Eylandt Archipelago where ~1500 Aboriginal people (Warnumamalya) live. Interviews were led by Warnumamalya community research partners in participants’ preferred language(s). Participants described their experience of living with MJD, from ‘knowing about MJD’, ‘protecting yourself from MJD’ and ‘adjusting to life with MJD’. While the specific importance of walking and moving around differed widely between participants, all perceived that walking and moving around enabled them to do what mattered most to them in life. ‘Staying strong on the inside and outside’ (physically, mentally, emotionally, spiritually) was perceived to work best to keep walking and moving around as long as possible. A framework that included personal and environmental strategies for staying strong emerged: ‘Exercising your body’, ‘having something important to do’, ‘keeping yourself happy’, ‘searching for good medicine’, ‘families helping each other’ and ‘going country’. This study, the first to explore lived experiences of MJD in Australia, highlights the importance of maintaining mobility as long as possible. Strategies perceived to work best address physical and psychosocial needs in an integrated manner. Services supporting families with MJD need flexibility to provide individualised, responsive and holistic care.

Highlights

The Aboriginal people of the Groote Eylandt Archipelago (Warnumamalya) [1] in Australia have experienced the impact of Machado Joseph Disease (MJD) on their families for generations [2]
MJD, or spinocerebellar ataxia 3 (SCA3) [3], is an autosomal dominant neurodegenerative disease estimated to be more prevalent in affected Aboriginal communities in the Top End of Australia than anywhere else in the world (Groote Eylandt Archipelago ~743/100,000: Azores Archipelago ~39/100,000) [4,5,6,7]
Recognising that services and supports provided for Aboriginal people risk failure if they do not take into account their views, lifestyle and concepts with respect to cultural and traditional practices [14], the aim of this study was to explore, from the perspective of individuals and families with MJD of the Groote Eylandt Archipelago, (1) ‘what is important’ and (2) ‘what works best’ to keep people with MJD walking and moving around

Summary

Introduction

The Aboriginal people of the Groote Eylandt Archipelago (Warnumamalya) [1] in Australia have experienced the impact of Machado Joseph Disease (MJD) on their families for generations [2]. MJD, or spinocerebellar ataxia 3 (SCA3) [3], is an autosomal dominant neurodegenerative disease estimated to be more prevalent in affected Aboriginal communities in the Top End (northern region) of Australia than anywhere else in the world (Groote Eylandt Archipelago ~743/100,000: Azores Archipelago ~39/100,000) [4,5,6,7]. Progressive decline in mobility due to ataxia is a characteristic feature of the disease with most individuals wheelchair bound within 10–15 years of symptoms emerging. In the absence of pharmacological interventions to alter the progression of MJD and a mean life expectancy of 20 years from onset of symptoms, loss of mobility places a substantial disability burden on individuals and families with MJD [9]

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