Programme description and objectives

The Fund was established to support activities designed to address the growing responsibility of chronic disease. Its main objective was to promote targeted actions aimed at chronic disease prevention and service improvements, particularly within the primary care and community sectors. The primary goals were to reduce the rates of preventable mortality and morbidity and maximise the quality of life and overall well-being for individuals affected by chronic disease, from diagnosis through to end-of-life care. Additionally, the Fund sought to alleviate the burden on healthcare and aged care systems and promote evidence-based best practices for the prevention, early detection, treatment and management of chronic diseases (Australian Government Department of Health, 2016). To achieve these objectives and implement the Fund’s key principles into practice, it identified the following three priority areas: prevention across the continuum of care, early detection and effective treatment. This approach was designed to ensure integration and continuity of prevention and care in conjunction with individual self-management of both illness and ageing. The main objectives of the Project were derived from the overarching goals of the Fund. It also sought to determine the financial cost of CMT to the government and recommend policies and strategies to better utilise resources within the identified areas of the public sector (Burns et al., 2016).

What is Charcot-Marie-Tooth? Epidemiology

CMT disease is a genetically and clinically diverse group of inherited disorders that affect the peripheral nervous system (Dubourg et al., 2012). It was first described in 1886 by pioneering neurologists Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth (Banchs, 2009). CMT and related disorders represent the most common hereditary neuromuscular conditions globally. Prevalence estimates fall between 1 in 2,500 and 1 in 1,214 individuals, influenced by factors such as ethnic background and methodological variations in data collection (Saporta, 2014). These estimates correspond to approximately 10,169 individuals in Australia, as per the 2021 Australian Bureau of Statistics Population Census (Australian Bureau of Statistics, 2021b). However, as the landscape of genetics evolves, the algorithms for testing are also likely to change (Tousignant et al., 2014). A hereditary condition, (notwithstanding sporadic cases), CMT can often be identified within extended family groups. Symptoms, severity and age of onset can vary considerably, even among members of the same family and indeed within the same CMT type (Ma et al., 2023).

CMT disrupts the functionality of both motor and sensory nerve pathways (National Institute of Neurological Disorders and Stroke, 2024), specifically the peripheral nerves, which are responsible for transmitting signals from the spinal cord to the extremities. CMT also exhibits a length-dependent pattern of affliction, initially targeting the most distal nerves before progressively affecting more proximal ones. Typical symptoms include progressive muscular weakness in the extremities, structural abnormalities of the hands and feet, reduced or absent tendon reflexes, sensory impairment which may range from mild to severe and chronic neuropathic pain (Krajewski et al., 2000; Peretti et al., 2022). Mobility-related symptoms include foot drop, difficulty in foot elevation, balance problems, a high-stepped gait characterised by frequent tripping or falling and scoliosis (National Institute of Neurological Disorders and Stroke, 2024). Depending on the severity of the disease, symptoms can range from subclinical and/or barely noticeable to significant disability necessitating the use of mobility aids (Nam & Choi, 2019).

Research project initial roll-out

The first major observation made at the time of this study was that ‘people with CMT are a motivated group willing to assist researchers and have their voices heard’(Burns et al., 2016). This heightened willingness among people with CMT to share their experiences greatly enhanced the quality of the research data. Additionally, there was considerable interest in the Project from people with CMT living in rural Australia, who demonstrated a notably higher level of enthusiasm for the Project compared to their urban counterparts, which in itself was high.

The Project commenced with primary data through a self-reporting survey, followed by focus group discussions. The criteria stipulated that participants must be over 18 years of age, reside in Australia and possess a formal diagnosis of CMT disease. Family members, caregivers and partners of people with CMT were also invited to engage in the focus groups, which were held at a later date. The survey, titled ‘A Survey of Costs, Utility Wellbeing and Management’ (hereafter referred to as ‘the Survey’), represented the largest known survey conducted for people with CMT in Australia at that time. A primary recruitment of 716 generated 418 usable responses, with 260 returned by hardcopy and 158 completed online. Participants ranged in age from 18 to 96 and included people from all Australian states and territories. Data analysis from the survey identified areas of interest that were used in the second stage of the project to formulate the focus group questions (Burns et al., 2016).

While collating the survey data, it became apparent to the research team that a loose network was forming as news of the research began to spread. Inquiries for additional surveys were requested from individuals beyond the original recruitment database, indicating broader engagement. A considerable number of these requests came from residents living in rural and regional Australia, located in towns and areas unfamiliar to me. This cohort of people also demonstrated a keen interest in participating in the focus groups, an unexpected response that steered the Project in an unforeseen direction. The involvement of rural Australians in both focus groups and surveys offered valuable insights into the distinct challenges of managing neurological conditions in rural contexts (an issue explored in greater detail later in this chapter).

Focus groups

The second phase of data collection involved qualitative focus group interviews conducted at the state branch offices of the CMTAA (Burns et al., 2016). Initially, it was my intention to travel to each state and territory by plane, assuming that I would only need to visit the capital cities. However, due to this unexpected influx of requests from respondents located outside the main metropolitan areas, I felt it was necessary to expand the focus group plan to include regional areas.

Subsequently, the reach of the research was expanded through additional focus groups that were organised and conducted in regional areas beyond the capital cities in each state. These locations included Dalby and Toowoomba in Queensland, Bathurst and Lithgow in NSW, Mildura and Warrnambool in Victoria and Murray Bridge in South Australia. This new direction for the Project necessitated a major extension of the focus group duration, travel itinerary and budget, as there was now a requirement to visit the many rural inland towns and shires by car to conduct the extra unscheduled focus groups. The focus group format was also modified to include questions pertinent to people with CMT living in rural Australia. Ultimately, this led to an improvement in the study’s outcomes, allowing for a larger sample and emphasising the need for research in this underserved area. Rural populations are frequently under-represented in health research due to the additional logistical and financial challenges involved, emphasising the critical need for comprehensive studies that address this persistent knowledge gap (Rolf et al., 2021). In total, this study consisted of twenty-one focus groups held across all states of Australia and the ACT: eight in state/territory capitals and thirteen in rural and regional areas (Burns et al., 2016).

Focus groups were conducted with a total of 178 participants, comprising individuals diagnosed with CMT and their family members (Burns et al., 2016). My lived experience with CMT proved valuable in guiding discussions in contextually appropriate and constructive directions. This experiential knowledge enabled a stronger rapport with participants, thereby enhancing the depth and quality of engagement throughout the research process. Open-ended questions were used to elicit participant responses, fostering a dynamic and responsive discussion environment conducive to in-depth exploration of experiences and perspectives. The comments and narratives provided by participants were subsequently categorised into themes that identified and described the life experiences and daily challenges associated with living with CMT. Such challenges included pain management, lack of access to healthcare professionals, medications, assistive technologies and decisions regarding genetic testing and diagnosis avoidance (Burns et al., 2016).

Focus group data obtained in rural settings made it possible to identify the distinct characteristics of rural lived experience, particularly in relation to the influence of the social determinants of health (Australian Government Australian Institute of Health and Welfare, 2024b). Additionally, rural responses underscored the constraints posed by geographical distance from vital services and the support systems necessary for managing one’s disability (Stehlik, 2017). The feedback from the focus group responses presented a broader range of explanatory categories compared to the original survey, with certain rural-specific categories identified. Qualitative and quantitative data from the focus groups and surveys were integrated within a unified research design, through which rural life emerged as a distinct analytical classification.

Genetic testing disparities by remoteness index

Genetic testing and diagnosis are important in identifying an individual’s specific CMT subtype to differentiate it from other neuropathies, owing to the potential overlap in symptoms with other neuromuscular disorders. An accurate diagnosis facilitates informed planning for disease progression and potential complications, supports the development of tailored treatment and rehabilitation strategies and allows individuals to prepare for lifestyle modifications that may be necessary in the future. The data can also indicate whether a patient is typical or considered ‘unusual for a particular genotype’ (Saporta et al., 2011). Individuals diagnosed with CMT may choose to share this information with extended family members, which can raise awareness as well as generate a range of positive outcomes, including earlier detection and intervention (Saporta et al., 2011).

The research results were organised to illustrate the frequency of genetic diagnoses across different national and state locations. A major observation identified was that experiences of CMT differed depending on remoteness, as indicated, among other things, by genetic testing data. This finding was particularly significant, given the relatively high prevalence of CMT. Statistical analysis also identified a direct correlation between lower rates of genetic diagnosis and reduced awareness of CMT in rural communities.

Focus group findings indicated that disparities in CMT diagnosis and awareness could be attributed to a range of contributing factors. Among these factors were the geographical challenges associated with distance (Dorrigan, 2023), a lack of specialist care in rural areas, the necessity to travel to metropolitan areas for affordable access to specialist services and the healthcare professionals’ levels of knowledge, commitment, and funding as well as the prevailing attitudes of stoicism and self-sufficiency often found in rural communities (O’Sullivan et al., 2014). These challenges also had much to do with rural residents with CMT exhibiting hesitance to address health concerns in general (Australian Government Department of Health, 2016). Another common theme identified in the focus group discussions was the need for improved communication between newly diagnosed people with CMT and their treating healthcare professionals (Burns et al., 2016). Ultimately, I observed that a positive relationship existed between awareness of the CMTAA and its functions and the likelihood of people seeking formal genetic diagnosis. The following state and territory data derived from the outcomes support this hypothesis (Burns et al., 2016).

The Australian Capital Territory (ACT) had the highest percentage (82%) of genetically tested people with CMT across all Australian states and territories. Moreover, the ACT was the only state/territory where all respondents were able to communicate if they had, or had not, been tested. It is worth mentioning that the ACT does not have a divide between metropolitan and rural areas (Burns et al., 2016).

In NSW, 73% of people with CMT had undergone genetic testing, the second-highest rate in Australia, while 8% of respondents expressed uncertainty regarding their testing status. Survey participants were recruited from the NSW ‘inner regional’ cities of Orange, Cowra, Bathurst and Lismore, the ‘outer regional’ city of Parkes and the ‘remote area’ city of Dubbo. The locations of 148 survey participants were mapped using the Australian Statistical Geography Standard (ASGS) Remoteness Index (Australian Bureau of Statistics, 2023). Analysis of the survey data consistently found that the frequency of CMT diagnoses decreased in line with the ASGS index across all the NSW localities. In the ‘major city’ of Sydney, 82% of people with CMT were genetically tested, with 12% unsure and 6% untested. Other major urban areas in NSW under the ASGS classification system included Wollongong (covering the entire Illawarra region, Kiama and Shellharbour) and the major Hunter region cities of Newcastle, Lake Macquarie and Maitland. The overall findings of the survey results revealed a higher incidence of uncertainty regarding genetic testing status among individuals with CMT residing in the major cities of NSW compared to those who reported that they had not been tested (Burns et al., 2016).

Access to genetic testing in Queensland was reported to be limited to Brisbane, the state’s principal metropolitan centre. Focus groups conducted in regional locations within the state of Queensland (Sunshine Coast and Dalby) revealed that very few neurological specialists in these areas recommended that their patients undertake genetic testing (Burns et al., 2016).

South Australia’s genetic testing rates were among the lowest of any Australian state/territory, with only 53% of respondents having undergone testing. However, at the time of this study, the CMTAA was in the process of establishing a well-organised branch in South Australia, and with the addition of this peak advocacy cell, it is likely that testing rates will increase due to recent awareness campaigns promoted through this branch (Burns et al., 2016).

Tasmania reported the lowest genetic testing rate in Australia at 37%, with several individuals indicating that they had travelled to Melbourne to access testing services. This finding highlights a complex range of barriers beyond geographic remoteness, including limited research infrastructure and service availability. Tasmanian focus group participants identified that long delays and poor communication with healthcare professionals were commonplace when compared to their experiences in Sydney and Melbourne, as revealed by the following quote (Burns et al., 2016).

On a positive note, the Tasmanian branch of the CMTAA proactively supported individuals newly diagnosed with CMT and facilitated the dissemination of current information on diagnostic procedures and disease management strategies (Burns et al., 2016).

The genetic testing rate for CMT in Victoria was identified as 57%, considerably lower than the rate observed in NSW. As part of the study, a Melbourne-based general practitioner (GP), whose patient cohort included several individuals from the Vietnamese community with CMT, contacted the research team after hearing about the Project. A focus group was held at the GP’s clinic. Participants, diagnosed with CMT by different neurologists across Melbourne, arrived with printed copies of their diagnostic letters, seeking further clarification and understanding of their condition (Burns et al., 2016).

A key challenge identified in this focus group was the language barrier, which hindered participants’ ability to understand their diagnosis. Test results were provided in English, making it difficult for individuals with limited English proficiency to interpret. As a result, participants expressed uncertainty and confusion regarding the nature of their diagnosis, the implications of their specific CMT subtype and what health outcomes to expect. Some were unsure if CMT was a terminal condition, highlighting a broader lack of accessible post-diagnostic information and support. The session revealed a systemic gap in care: while specialists in Victoria were diagnosing CMT and identifying specific subtypes, there was an absence of a structured care pathway to support individuals after diagnosis.

An important insight from this experience was the pressing need for neurologists and healthcare providers to collaborate more closely with member-based support organisations. Developing structured post-diagnosis support networks would help address gaps in patient understanding, offer essential resources and enhance the long-term management of CMT. The CMTAA functions as an important network through which individuals with CMT, their families and caregivers can share lived experiences and access peer-informed resources.

In Western Australia, 72% of people with CMT had undergone genetic testing and were generally well informed about their genetic type. Notably, none of the survey participants were uncertain about whether they had been tested. When reviewing the focus group data, I noted that Western Australians were generally well informed about their own genetic testing options and demonstrated a willingness to undergo testing. Additionally, the CMTAA Western Australian state branch organisers maintained a strong and collaborative relationship with neurologists, who actively participated in the Perth capital city branch CMTAA meetings (Burns et al., 2016).

Observations drawn from visiting multiple states and conducting in-person focus groups provided valuable insights into the diverse needs of Australians living with CMT. Notably, 43.2% of individuals with CMT in Australia were unaware of their specific subtype, a significant gap in diagnostic clarity. This state-by-state comparison revealed the unequal access to genetic testing for CMT across Australia, illustrating that geographical location, access to specialists and language proficiency can significantly influence diagnosis. These findings revealed the persistent disparities in healthcare access and emphasised a need for greater awareness, communication and support across both metropolitan and rural areas. Given that genetic testing forms the basis for specialist intervention, such disparities continue to present substantial challenges to the effective diagnosis, treatment and research of CMT in Australia.

Diagnosis aversion

A notable theme that emerged from focus group discussions, including those held in rural locations, was a growing concern among participants about the potential negative consequences of receiving a formal diagnosis. This is a phenomenon referred to as ‘diagnosis aversion’ (Miller, 2007). A number of participants expressed apprehension that receiving a formal diagnosis would necessitate disclosure to insurance providers, employers and other organisations. Fears of insurance discrimination, bureaucratic hurdles, travel restrictions and threats to job security was an underlying worry. The thinking was that not having a formal diagnosis would allow individuals a degree of plausible deniability. Participants also raised privacy fears related to the protection of genetic information.

Genetic discrimination has emerged in recent years, particularly within the life insurance sector, where the onset of genetic conditions can impact access to and coverage of income-related policies (Adjin-Tettey, 2013). In a conversation outside the focus group, participants shared that they had declined genetic testing due to concerns that their children might face future discrimination, expressing a lack of confidence in the Australian Government’s ability to ensure genetic privacy and protection. Apprehensions about insurance policy denial or the arbitrary application of exclusions were compounded by the limited scope of recognised genetic conditions (Adjin-Tettey, 2013). Consequently, the decision to undergo genetic testing has increasingly been framed as an economic consideration (Burns et al., 2016).

The ‘bush telegraph’ and its role in research

The CMTAA, Australia’s peak advocacy and information organisation for people with CMT, supported the Project by providing access to a national database of individuals who had expressed willingness to participate in the study (Charcot-Marie-Tooth Association Australia); however, as the Project progressed, it became evident that undertaking research in rural settings also served to increase community awareness. In addition to the unexpectedly high number of survey requests received from individuals in rural Australia, the manner in which these participants became aware of the Project proved particularly revealing. The individuals who made contact were not included in any of the databases provided and would likely not have been identified if they had not independently reached out after learning about the Project through informal channels. Moreover, the response was surprisingly swift. Clusters of survey requests emerged across broad geographic regions, resembling the function of the ‘bush telegraph’ (Strongman, 2014), an informal communication network characteristic of Australian rural communities through which information spreads rapidly via word of mouth.

It is my view that this ‘bush telegraph’ phenomenon played an important role in enhancing the research process. The bush telegraph resulted in a heightened willingness among individuals residing in rural areas to engage in the Project in contrast to their metropolitan counterparts. It was not until I became part of that rural community network two years following the conclusion of the Project in 2017 that I fully appreciated how the concept of the bush telegraph operated in practice. This experience contributed to a more nuanced understanding of its role within the context of disability research. The message was clear: rural Australians expressed a strong interest in the continuation of research on CMT to be conducted in their communities (Burns et al., 2016). The operation of the bush telegraph also formed the basis of the first of two case studies to be introduced.

Case study 1: Rural CMT farming family

The first lived experience case study centres on a family residing in regional Victoria who adopted an unconventional approach to managing CMT. Select elements of this case study were incorporated into the Project’s final report. Information disseminated through the ‘bush telegraph’ brought the research team’s attention to a large family residing in rural Victoria affected by CMT. Subsequent email correspondence resulted in contact from a family member who expressed interest in participating in the study. It was mutually agreed that a focus group would be conducted on the family’s farm. To optimise research outcomes, the focus group was limited solely to members of this extended family and comprised a manageable cohort of fourteen participants.

Participation in focus groups became more approachable over time, as the shared experience of CMT among attendees created an environment that was conducive to open and honest discussions about the challenges and realities of living with the condition. This sense of familiarity was particularly evident upon arrival at the family’s farm, where I was welcomed into a kitchen-dining area and joined by several family members. Many visibly exhibited physical signs consistent with CMT. Common clinical features of CMT observed included foot drop, foot deformities such as hammertoes or curled toes, pes cavus (high-arched feet), distal muscle wasting in the lower legs resulting in an ‘inverted champagne bottle’ appearance, hand atrophy and scoliosis (Adjin-Tettey, 2013). During our conversation, the farm manager gestured toward a AUD 60,000 diesel fuel invoice that happened to be on the table, noting that it represented only a single month of operational costs. This gesture accentuated the scale and complexity of the farming enterprise.

The focus group discussion revealed that until recently, the family had not sought a medical diagnosis, information or treatment for their condition. In fact, no family member had previously heard of CMT. It was only through the ‘bush telegraph’ that the family became aware of CMT, and subsequently the Project. Notably, they were unaware that their condition was part of a globally recognised disorder affecting approximately 1 in 2,500 people (Saporta, 2014). Family members had believed it to be a rare, hereditary condition confined to their lineage alone (Burns et al., 2016). Meeting an individual outside their family who both lived with CMT and was conducting research on the condition prompted a highly engaged response. A wide range of questions were raised concerning available support services, projected life expectancy and broader aspects of disease management.

In the absence of formal diagnoses and engagement with allied health services or other support resources, the family adopted a self-directed approach to managing CMT. Nearly all aspects of care were addressed independently, without professional healthcare intervention. Over time, they implemented a range of adaptations within their agricultural practices to accommodate the functional limitations associated with the condition. A notable adaptation was the family’s initiative to handcraft custom footwear using their own skills, specifically designed to address clinical manifestations such as pes cavus, hammertoes and other related foot deformities experienced by several family members.

During a tour of the farm, I was shown agricultural equipment valued in the hundreds of thousands of dollars, offering insight into the farm’s substantial diesel consumption mentioned earlier. One particularly remarkable example of adaptation involved a tractor that had been manually modified: the accelerator and brake pedals were removed and reversed to accommodate a farmer with CMT, whose left leg retained more strength than his right, thereby enhancing control over the vehicle. When asked whether any professional support had been engaged for this alteration, the family stated that their only ‘professional assistance’ consisted of a grinder and a welding machine.

At first glance, this case appeared to reflect a rejection of the medical model of disability (Heery & Noon, 2008), with the family opting for self-reliance in managing their own condition. However, it soon became apparent that they had inadvertently fallen through systemic gaps in healthcare provision, and they were not alone. During travel across rural Australia, additional, albeit on a smaller scale, instances of similar isolation were identified. My observations pointed to a significant gap in awareness of CMT, particularly in rural contexts, which required attention. Typically, the responsibility for raising awareness and delivering education about CMT would rest with neurologists, general practitioners, allied health professionals or the CMTAA.

The evolving recognition of CMT in Australia

Engagement with participants through the CMT survey and focus groups, and the sharing of aspects of lived experience, provided valuable insights into the diverse journeys of individuals with CMT and their support networks. Travelling throughout regional and rural Australia deepened my understanding of life beyond the capital cities for people with disability. It was only several years after these visits to rural homes and communities that I began to reflect on the potential role that local government processes could play in addressing persistent gaps in disability awareness across rural Australia.

The lack of awareness of CMT disease among healthcare professionals has remained a persistent theme throughout my life. Throughout my early childhood in the 1970s and into my formative years extending into the 1980s, it was common for general practitioners and treating physicians at hospitals whom I encountered to possess minimal to no knowledge or understanding of CMT. Further still, interactions with allied health professionals who possessed any familiarity with the condition were even more uncommon. During this time, I received a series of misdiagnoses, including muscular dystrophy, Friedreich’s ataxia and even lead poisoning. By the end of the 1980s, a formal diagnosis had yet to be confirmed, although one neurologist expressed a strong suspicion that a variant of CMT might be present.

During the 1990s and early 2000s, I found that limited familiarity with CMT disease remained evident among many general practitioners and resident doctors. Nevertheless, I could see that there was a notable improvement in awareness of the condition across the medical community, particularly among allied health professionals. In 1994, Professor Garth Nicholson, a neurologist recognised for his expertise and leadership in CMT research (Mellor & Miller, 2008), conducted a nerve conduction study and subsequently provided me with a formal diagnosis of a specific CMT subtype (Charcot-Marie-Tooth Association Australia, 2025; Shy et al., 2005). This diagnosis was facilitated through genetic panel testing, a process that, at the time, was becoming increasingly accessible and affordable for both clinicians and patients (McClain, 2021).

Professor Nicholson became a central figure in my medical journey over the decades, often providing critical guidance when other practitioners lacked expertise in CMT. His enduring support played a key role in shaping my care and deepening my understanding of the condition. I remain deeply appreciative of his contributions to CMT research and advocacy, particularly his establishment of the CMTAA in the early 1980s, which has since provided vital support and information to many individuals and families, including my own. As of 2025, based on my lived experience, it is encouraging to see that most allied health professionals now demonstrate at a minimum a basic familiarity with, and for some, a deeper understanding of CMT in clinical practice.

Case study 2: a rural baker’s narrative

The second case study features a focus group participant residing in rural Australia, whose occupation was baker and cake decorator. This participant brought a photo album to the focus group containing images of their decorative cakes. Unfortunately, their professional career had been interrupted due to the progression of pes cavus and hammertoes, which had worsened to the point where they were unable to wear footwear necessary to comply with occupational health and safety guidelines.

During the focus group, fellow participants as well as myself were able to relay to the person that foot surgery may be an option. Subsequently, the participant was put in contact with a metropolitan specialist who offered surgical treatment options, allowing the participant to resume their professional baking career. This case, among others, illustrated how the Project was not only raising awareness but also delivered tangible improvements to the lives of people with CMT. It became evident that focus groups functioned as more than just forums for discussion, they also served as vehicles for meaningful change.

Building awareness as a solution to bridging gaps in disability research

As previously noted, disparities in disability support between urban and rural areas remained evident, often reflecting broader inequities in health outcomes. During my time as a researcher engaging with people with disability in rural communities, it became increasingly clear that a key barrier to improved health outcomes was the widespread lack of awareness, not only within the medical profession but across the broader community. This gap in awareness appeared to be deeply intertwined with the social determinants of health, including income, education, nutrition, housing and geographic isolation (Green et al., 2022).

The disadvantages arising from the complex interplay of the social determinants of health are clearly compounded for individuals with CMT residing in rural Australia. Disability intersects with all of these determinants, intensifying existing barriers associated with the management of disability and exacerbating the obstacles in navigating everyday life (Charcot-Marie-Tooth Association Australia, 2025). Contributing factors such as geographic isolation and limited access to specialist diagnostic, treatment and management services contribute further to these barriers. One of the Project’s key findings indicated a marked decline in the rate of genetic testing for CMT with increasing geographical remoteness across Australia (Burns et al., 2016).

Drawing from my perspective as both a researcher and a person with CMT, I could see that addressing these disparities required a multifaceted approach centred on awareness, accessibility and tailored support for individuals with CMT in rural Australia. Key strategies include improving education and awareness among healthcare professionals, increasing access to genetic testing and specialist services and developing community-based initiatives to bridge the urban-rural divide in disability support. Additionally, policy interventions that address the broader social determinants of health, in particular economic security, housing and transport, are essential in mitigating the compounded disadvantages faced by individuals with CMT living in rural areas. A final obstacle to consider is the prevailing attitude of stoicism prevalent in many rural communities, resulting in accepting and adapting to disability rather than actively exploring diagnosis, treatment options and available support (Bullock et al., 2010). Addressing these systemic and attitudinal barriers is essential to improving health outcomes and quality of life for people with CMT residing in rural areas.

Future research considerations

The focus groups offered clarity to the survey findings, enabling the interpretation of ambiguous or unexpected quantitative data by exploring participants’ underlying reasoning, lived experiences and motivations behind their responses. The groups added contextual richness to the survey’s open-ended responses, supporting the identification of new or emerging themes and informing future research directions. In particular, participant feedback underscored the need for practical innovations in assistive technology to enhance the everyday management of CMT as a somewhat complex and little-known disability in a rural Australian setting (Burns et al., 2016).

The project identified a clear research gap in understanding the day-to-day realities of life for rural Australians with CMT. Drawing on my own lived experience while conducting the research, it is my view that future investigations should prioritise two key areas. First, there is a need to increase awareness of CMT and its symptoms within rural communities. Second, research should investigate the development of tailored management strategies specific to rural contexts. One such example is mobility equipment suited for harsh rural environments. A structured support system, together with a well-organised framework, would ideally offer consistent, accessible and effective guidance and assistance for individuals with CMT living in rural areas.

The peak national body, the CMTAA, is well positioned to lead the development of this structured support system, provided it receives adequate and ongoing funding. It has demonstrated a willingness to extend its reach beyond traditional Sydney-based activities, notably through the relocation of its annual seminar to Adelaide, where researchers present to members. As a volunteer-run organisation with limited resources, the CMTAA is governed by a committee of nine individuals, all of whom have personal experience with CMT, either directly or through a family member. The CMTAA is likely to play a central role in advancing future CMT research in Australia and has produced literature emphasising the importance of investigating the experiences of people living with CMT in rural areas (Charcot-Marie-Tooth Association Australia, 2025).

An often overlooked consideration when contemplating future research directions for people with disability in rural Australia is the demographic composition of these regions. Regional areas have a higher proportion of older adults (over 65 years) compared to metropolitan centres (Australian Government Australian Institute of Health and Welfare, 2024b). Additionally, remote and very remote areas have disproportionately higher Indigenous populations (Australian Government Australian Institute of Health and Welfare, 2024a). Both older Australians and Aboriginal and Torres Strait Islander people experience increased rates of disability. These intersecting demographic factors, combined with the geographic harshness and infrastructure limitations typical of rural and remote communities, complicate the effective management of disability and CMT.

Tree-change

The unexpected expansion of the Project beyond metropolitan areas marked a pivotal moment in my understanding of rural Australian life. What initially began as a research initiative gradually evolved into a personal journey, eventually leading to a major lifestyle change. In 2016, I relocated from Sydney to Blayney, a small town in the Central West region of NSW. With a population of approximately 3,000 residents (about 8,000 across the broader local government area [LGA]) (Australian Bureau of Statistics, 2021a), Blayney presented a sharp contrast to urban life, characterised by its rural landscapes, close-knit community and strong sense of belonging.

Motivated to integrate quickly into my new surroundings, I actively pursued opportunities to contribute to local life. In 2017, I took a decisive step by running for local government and was subsequently elected as a Councillor for the Blayney Shire Council. This role marked the beginning of a transformative period during which I served for 4.5 years (NSW Electoral Commission, 2017). My tenure coincided with the unprecedented challenges of the COVID-19 pandemic, a time that tested the resilience and adaptability of rural communities and reinforced the essential role of local governance in crisis response.

Beyond my role on council, I also became involved in a range of community initiatives. I served as vice president of Lee Hostel, a local aged care facility, where I gained valuable firsthand insight into the distinct needs of elderly residents in rural Australia (Lee Aged Care Blayney, 2025). Additionally, I chaired the Blayney Shire Council Local Access Advisory Committee (BSC LAAC), later re-formed as the Disability Inclusion Working Group (Blayney Shire Council, 2025b). I collaborated with community members, fellow councillors and council staff to implement inclusive policies and support structures. These experiences complemented and deepened the insights that I had previously acquired through my CMT research. Together, these roles provided a practical perspective on pressing disability policy challenges, including a need to improve the accessibility of social and health services in a rural context.

Ultimately, my understanding of rural communities transformed from observation to lived experience. The challenges were tangible and immediate, but so too were the opportunities to effect change, address gaps in disability support and contribute meaningfully to the evolving landscape of rural governance.

The relationship between policy and legislative instruments in New South Wales

The National Disability Strategy (NDS) (Australian Government Department of Social Services, 2024) outlines the Australian Government’s commitment to fulfilling its obligations under the UNCRPD, to which Australia is a signatory (United Nations, 2006). NSW’s response to the NDS was the enactment of the Disability Inclusion Act 2014 (DIA 2014) (NSW Government, 2021) as a state-based framework to support the objectives of the NDS. The implementation of these three instruments – the UNCRPD, the NDS and the DIA 2014 – serves as the foundation for the NSW Disability Inclusion Plan (DIP) (NSW Government, 2025).

A key mandate of the NSW DIA 2014 was that communities be inclusive and accessible for people with disabilities. Consequently, under the NSW DIP, all NSW public authorities, including Local Government Councils, are required to have a Disability Inclusion Action Plan (DIAP) in place, ensuring that councils actively promote equal participation for people with disabilities within their communities (NSW Government, 2025). During my tenure as an elected Councillor and chair of the Local Access Advisory Committee, I observed effective disability policy implementation through Blayney Shire Council’s DIAP (Blayney Shire Council, 2025).

Local government’s role in disability research

As I gained expertise in my role as a local government Councillor and chair of the Local Access Advisory Committee, I was able to reflect on various aspects of my lived experience as a person with a disability. As a Councillor, I drew on my experience in the LGA while also leveraging my lived experience as a researcher to formulate the hypothesis that local governments can and should better serve as a valuable resource in disability research.

As outlined, all 127 local governments in NSW are required by legislation to implement the NDS through a DIAP. I observed that there was limited collaboration between councils, resulting in inconsistencies in DIAP planning and implementation, and that this is primarily due to the absence of a co-ordinated, statewide data collection framework for disability inclusion. At present, data is gathered on an ad hoc basis, driven by what individual councils consider to be useful. To extrapolate meaningful statistical research data and inform future planning, an efficient, centralised and co-ordinated statewide approach is required. Such a structure would also need to include clear guidance on what data to collect, from whom and how. This approach would allow for the accurate measurement of the progress of the state’s role in its implementation of the NDS. Additionally, NSW LGAs could explore how to supplement the statistical picture of disability inclusion performance with other resources, such as the Australian Bureau of Statistics.

A further opportunity for conducting health research in rural Australia lies in leveraging the existing community networks and infrastructure maintained by local councils, such as community centres and village halls. The importance of these facilities is often overlooked, as community centres function as hubs for social connection and necessary communication. These centres also play a key role in the aforementioned ‘bush telegraph’ process. As accessible, trusted and familiar hubs, rural community centres offer valuable opportunities for researchers to collect data on disability and other health-related issues in a way that is relevant and inclusive.

Local council disability-led policy

Local government policy plays a central role in advancing disability inclusion in rural Australia. NSW Local Council’s DIAPs serve as a foundational document and strategic framework guiding councils in prioritising accessibility and inclusion in the design, maintenance and management of public buildings and outdoor spaces.

To strengthen the implementation of DIAPs, councils could benefit from engaging design consultants with expertise in disability access and inclusion. Equally important is the allocation of appropriate funding and dedicated attention from both council staff and elected representatives to ensure meaningful progress in accessibility outcomes. However, a major challenge for the majority of rural councils is limited resources allocated to this function. Many regional local governments operate under financial constraints exacerbated by a “one-size-fits-all” funding model, which fails to account for the diverse and specific needs of individual councils in delivering effective disability support services (Blayney Shire Council, 2025a).

Despite these ongoing challenges, local governments operate within a supportive policy framework that enables the advancement of disability research and inclusion initiatives. This framework aligns with both iterations of the NDS, the original 2010–2020 strategy, and the current strategy, known as Australia’s Disability Strategy 2021–2031 (Australian Government Department of Health, Disability and Ageing, 2025a). By leveraging these national frameworks, councils are well-positioned to maximise disability accessibility and inclusion outcomes within their communities.

Better policy on state and federal levels of government

In my role as a local government Councillor (Blayney Shire Council, 2025a) and vice president of the aged care facility Lee Hostel (Lee Aged Care Blayney, 2025), I frequently encountered disability in a broader community context. However, as Chair of the Local Access Advisory Committee, my responsibilities were primarily focused on ensuring disability inclusion. The combination of these roles afforded me an extremely unique lens to closely observe both the challenges and benefits experienced by people with disability living in rural Australia – in particular, the experiences of people with disability in navigating access to state and federally funded services, such as the NDIS, and the systemic challenges and opportunities for access improvement. The NDIS is an Australian government-funded initiative that delivers support and services to individuals with permanent and significant disabilities, enabling access to essential care, therapies and opportunities for community participation (Australian Government Department of Health, 2025). My observations included reported barriers and limitations in accessing such services, thereby identifying critical areas for policy reform and targeted advocacy.

NDIS participants living in rural Australia encounter additional barriers to plan their utilisation of the Scheme compared to their metropolitan counterparts, largely due to limited access to disability support services (Wakely et al., 2023). Research indicates widespread service shortages, particularly in allied health and home maintenance, which often necessitate considerable travel to access essential care (Mavromaras et al., 2018), resulting in financial and logistical burdens. NDIS participants in rural and remote areas are, on average, ‘15% more likely to face unmet support needs’ (Wakely et al., 2023, p. 2) compared to those in urban regions. Compounding this issue, NDIS planners, who are usually based in metropolitan centres, are frequently reported to lack a nuanced understanding of the unique challenges associated with living with a disability in rural contexts (Australian Federation of Disability Organisations [AFDO, 2024]). This disconnect can result in support plans that do not adequately reflect the needs of rural participants, further contributing to plan underutilisation. These persistent challenges emphasise the need for improved strategic planning and expanded service availability to ensure that the NDIS supports people with disability in rural Australia, as made clear by one participant’s concise comment:

As of 2025, the division of responsibilities between Federal and State governments continues to overlap, particularly in the implementation of the Multi-Purpose Service (MPS) healthcare model – a jointly funded initiative. As such, state-funded hospitals and the jointly funded MPS’s provide disability diagnosis and treatment, transport to and from rural communities, access to specialised treatments and allied health workers such as occupational therapists and bulk-billing doctors (NSW Government NSW Health, 2025).