Date Published: March 11, 2019
Publisher: Public Library of Science
Author(s): Jennifer J. Carr, Joyce Lalara, Gayangwa Lalara, Gloria O’Hare, Libby Massey, Nick Kenny, Kate E. Pope, Alan R. Clough, Anne Lowell, Ruth N. Barker, Penny Abbott.
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.
The Aboriginal people of the Groote Eylandt Archipelago (Warnumamalya)  in Australia have experienced the impact of Machado Joseph Disease (MJD) on their families for generations . MJD, or spinocerebellar ataxia 3 (SCA3) , 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) [4–7]. Each child of a parent with MJD has a 50% chance of developing the disease and at an earlier age due to genetic anticipation . In some instances, three generations of individuals in one family can be affected at any one time . 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 .
Characteristics of study participants are outlined in Table 2. Living with MJD shaped participants’ perspectives on walking and moving around. Mirroring the progressive onset of symptoms, three phases emerged with participants sharing their stories about living with MJD: from ‘knowing about MJD’, ‘protecting yourself from MJD’, and ‘adjusting to life with MJD’. Walking and moving around was important for a range of different reasons, yet essentially enabled participants to do what mattered most to them in life. For what works best to keep walking and moving around, participants emphasised ‘staying strong on the inside and outside’ by ‘exercising your body’, ‘having something important to do’, ‘keeping yourself happy’, ‘searching for good medicine’, ‘families helping each other’ and ‘going country’. In the following, for each of these strategies in turn, selected evidence provided by Warnumamalya is presented and interpreted.
This is the first study to explore perspectives of individuals and families with MJD, on walking and moving around. The experience of MJD is described as the process of first knowing about MJD, then protecting themselves from MJD and finally adjusting to life with MJD. Walking and moving around were considered essential to do what matters most in life. To keep walking and moving around, regardless of level of disability, staying strong on the inside and outside was thought to work best. While recognising the need to ‘leave it up to the person’ to choose, a range of strategies or lifestyle practices specific to the individual, the family and community context could be employed. Strategies identified included ‘exercising your body’, ‘having something important to do’, ‘keeping yourself happy’, ‘searching for good medicine’, ‘families helping each other’ and ‘going country’. It is proposed that these strategies provide a framework for staying strong that can inform service delivery.
Individuals and families with MJD from the Groote Eylandt Archipelago value walking and moving around because it enables them to do what matters most in life. To maintain mobility for as long as possible, they engage in lifestyle practices to strengthen their physical and psychosocial well-being. To support individuals and families with MJD, person-centred, holistic and strength-based services are required.