A cold case of hemolytic disease of the fetus and newborn resolved by genomic sequencing and population studies to define a new antigen in the Rh system.

BACKGROUND: We report an obstetric case involving an RhD-positive woman who had developed a red blood cell (RBC) antibody that was not detected until after delivery of a newborn, who presented with a positive direct antiglobulin test result. Immunohematology studies suggested that the maternal antibody was directed against a low-prevalence antigen on the paternal and newborn RBCs. RESULTS: Comprehensive blood group profiling by targeted exome sequencing revealed a novel nonsynonymous single nucleotide variant (SNV) RHCE c.486C>G (GenBank MZ326705) on the RHCE*Ce allele, for both the father and newborn. A subsequent genomic-based study to profile blood groups in an Indigenous Australian population revealed the same SNV in 2 of 247 individuals. Serology testing showed that the maternal antibody reacted specifically with RBCs from these two individuals. DISCUSSION: The maternal antibody was directed against a novel antigen in the Rh blood group system arising from an RHCE c.486C>G variant on the RHCE*Ce allele linked to RHD*01. The variant predicts a p.Asn162Lys change on the RhCE protein and has been registered as the 56th antigen in the Rh system, ISBT RH 004063. CONCLUSION: This antibody was of clinical significance, resulting in a mild to moderate hemolytic disease of the fetus and newborn (HDFN). In the past, the cause of such HDFN cases may have remained unresolved. Genomic sequencing combined with population studies now assists in resolving such cases. Further population studies have potential to inform the need to design population-specific red cell antibody typing panels for antibody screening in the Australian population.

Chronic respiratory disease in Indigenous peoples: a framework to address inequity and strengthen respiratory health and health care globally.

Indigenous peoples around the world bear a disproportionate burden of chronic respiratory diseases, which are associated with increased risks of morbidity and mortality. Despite the imperative to address global inequity, research focused on strengthening respiratory health in Indigenous peoples is lacking, particularly in low-income and middle-income countries. Drivers of the increased rates and severity of chronic respiratory diseases in Indigenous peoples include a high prevalence of risk factors (eg, prematurity, low birthweight, poor nutrition, air pollution, high burden of infections, and poverty) and poor access to appropriate diagnosis and care, which might be linked to colonisation and historical and current systemic racism. Efforts to tackle this disproportionate burden of chronic respiratory diseases must include both global approaches to address contributing factors, including decolonisation of health care and research, and local approaches, co-designed with Indigenous people, to ensure the provision of culturally strengthened care with more equitable prioritisation of resources. Here, we review evidence on the burden of chronic respiratory diseases in Indigenous peoples globally, summarise factors that underlie health disparities between Indigenous and non-Indigenous people, propose a framework of approaches to improve the respiratory health of Indigenous peoples, and outline future directions for clinical care and research.

Genomic characterisation of clinically significant blood group variants in Aboriginal Australians.

BACKGROUND: Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anaemia. MATERIALS AND METHODS: In this study, we applied next-generation sequencing and analysis to 245 samples obtained from Aboriginal Australians from South-East Queensland, to predict antigen phenotypes for 36 blood group systems. RESULTS: We report potential weak antigens in blood group systems RH, FY and JR that have potential clinical implications in transfusion and pregnancy settings. These include partial DIII type 4, weak D type 33, and Del RHD (IVS2-2delA). The rare Rh phenotypes D+ C+ E+ c- e+ and D+ C+ E+ c+ e- were also detected. DISCUSSION: The comprehensive analyses of blood group genetic variant profiles identified in this study will provide insight and an opportunity to improve Aboriginal health by aiding in the identification of appropriate blood products for population-specific transfusion needs.

Correlates of mental disorder and harmful substance use in an indigenous Australian urban sample: an analysis of data from the Queensland Urban Indigenous Mental Health Survey.

PURPOSE: Limited data exists on the relationship between sociodemographic and cultural variables and the prevalence of specific mental and substance use disorders (MSDs) among Indigenous Australians, using diagnostic prevalence data. This paper utilises data from the Queensland Urban Indigenous Mental Health Survey (QUIMHS), a population-level diagnostic mental health survey, to identify socioeconomic and cultural correlates of psychological distress and specific MSDs in an urban Indigenous Australian sample. METHODS: Using a mixture of household sampling (door-knocking) and snowball sampling (promotion of the survey in the community), 406 participants aged 18 to 89 were recruited across key locations in Southeast Queensland. The study investigated various demographic, socioeconomic, and cultural factors as predictors of psychological distress (measured by the Kessler-5) and MSD diagnoses (utilising the Composite International Diagnostic Interview, CIDI 3.0) using a series of univariate logistic regressions. RESULTS: Individuals in unstable housing (homeless, sleeping rough) and those reporting financial distress were more likely to experience an MSD in the past 12 months and throughout their lifetime. Individuals reporting lower levels of connection and belonging, limited participation in cultural events, and lower empowerment were more likely to have a lifetime mental disorder. CONCLUSION: This data emphasises the importance of addressing systemic and social determinants of health when designing and delivering community mental health services and underscores the need for holistic approaches when working with Indigenous communities.

Improving the Diagnosis and Treatment of Paediatric Bronchiectasis Through Research and Translation.

Bronchiectasis, particularly in children, is an increasingly recognised yet neglected chronic lung disorder affecting individuals in both low-to-middle and high-income countries. It has a high disease burden and there is substantial inequity within and between settings. Furthermore, compared with other chronic lung diseases, considerably fewer resources are available for children with bronchiectasis. The need to prevent bronchiectasis and to reduce its burden also synchronously aligns with its high prevalence and economic costs to health services and society. Like many chronic lung diseases, bronchiectasis often originates early in childhood, highlighting the importance of reducing the disease burden in children. Concerted efforts are therefore needed to improve disease detection, clinical management and equity of care. Modifiable factors in the causal pathways of bronchiectasis, such as preventing severe and recurrent lower respiratory infections should be addressed, whilst also acknowledging the role played by social determinants of health. Here, we highlight the importance of early recognition/detection and optimal management of bronchiectasis in children, and outline our research, which is attempting to address important clinical knowledge gaps discussed in a recent workshop. The research is grouped under three themes focussing upon primary prevention, improving diagnosis and disease characterisation, and providing better management. Our hope is that others in multiple settings will undertake additional studies in this neglected field to further improve the lives of people with bronchiectasis. We also provide a resource list with links to help inform consumers and healthcare professionals about bronchiectasis and its recognition and management.

Cough in Children and Adults: Diagnosis, Assessment and Management (CICADA). Summary of an updated position statement on chronic cough in Australia.

INTRODUCTION: Cough is the most common symptom leading to medical consultation. Chronic cough results in significant health care costs, impairs quality of life, and may indicate the presence of a serious underlying condition. Here, we present a summary of an updated position statement on cough management in the clinical consultation. MAIN RECOMMENDATIONS: Assessment of children and adults requires a focused history of chronic cough to identify any red flag cough pointers that may indicate an underlying disease. Further assessment with examination should include a chest x-ray and spirometry (when age > 6 years). Separate paediatric and adult diagnostic management algorithms should be followed. Management of the underlying condition(s) should follow specific disease guidelines, as well as address adverse environmental exposures and patient/carer concerns. First Nations adults and children should be considered a high risk group. The full statement from the Thoracic Society of Australia and New Zealand and Lung Foundation Australia for managing chronic cough is available at https://lungfoundation.com.au/resources/cicada-full-position-statement. CHANGES IN MANAGEMENT AS A RESULT OF THIS STATEMENT: Algorithms for assessment and diagnosis of adult and paediatric chronic cough are recommended. High quality evidence supports the use of child-specific chronic cough management algorithms to improve clinical outcomes, but none exist in adults. Red flags that indicate serious underlying conditions requiring investigation or referral should be identified. Early and effective treatment of chronic wet/productive cough in children is critical. Culturally specific strategies for facilitating the management of chronic cough in First Nations populations should be adopted. If the chronic cough does not resolve or is unexplained, the patient should be referred to a respiratory specialist or cough clinic.

Alcohol use in Australia: countering harm with healing.

Harmful use of alcohol consumption in Australia is a serious socio-political and public health issue that is exacerbated by exploitative marketing campaigns by the alcohol industry. In Indigenous populations harmful alcohol use is directly related to the legacy of colonisation that has led to complex social issues and adverse intergenerational trauma. To effectively address alcohol-related harm in Australia, it is necessary to critically apply the 'Three Pillars of Harm Minimisation', which are demand reduction, supply reduction, and harm reduction. This can be facilitated through approaches such as the 'Interplay Wellbeing Framework', which situates concepts of wellbeing and risky alcohol use within the context of systemic inequities across all social determinants of health. Culturally responsive approaches embody a holistic view of community, mutually respectful collaboration, culture, healing, and self-determined change. This is underpinned by Indigenous leadership that promotes existing resistance, resilience, interpersonal relationships, and strengths that instil healing to counter the harms associated with alcohol use.

"It's research, our input can grow": identifying health research priorities with Aboriginal and Torres Strait Islander communities-study protocol.

BACKGROUND: In Australia, Aboriginal and Torres Strait Islander (Indigenous) families have strong, cohesive, and nurturing cultural practices that contribute to effective family functioning and child rearing. These practices can lead to positive effects on children and communities, and include kinship relations, traditional knowledge systems, collective community focus, respect for Elders contributions, and spirituality. However, poor health and wellbeing outcomes exist across the lifespan for Indigenous Australians. Health programs, services and research that support Indigenous women, babies and their families are a critical investment to improve birthing and health outcomes and impact the life trajectories of Indigenous Australians. AIM: The Indigenous Health Research Priorities study aims to identify the research priorities for families during the perinatal and early childhood period through a co-designed and collaborative process. This has been led by communities to determine the priorities identified with and for local Indigenous families in Queensland. This paper aims to report on engagement and involvement with Indigenous communities to identity health research priorities for families and presents preliminary findings of the research process including participants' demographic information and feedback on the yarning sessions, as part of the study protocol. METHODS: The study protocol showcases the Participatory Action Research approach, yarning sessions with clients and staff of three community-controlled health services to date, and Delphi workshop methods to prioritise the health issues identified during the yarns with corresponding communities. The study will undertake qualitative data collection and analysis to identify and report on community and health service research priorities for Indigenous families in Queensland. A short survey was conducted to collect participants' demographic information. A feedback form with five open-ended questions was also administered to collect data on participants' views and satisfaction with the research process. PRELIMINARY RESULTS: This protocol paper reports on the participant demographic information and feedback on the research process and reactions to participating in the yarning sessions. There have been 12 yarning sessions in Far North Queensland to date. The qualitative analysis of these will be reported on in future, with South East Queensland and further sites to follow. Feedback from 61 community members and health professionals has highlighted they valued sharing stories, being heard, and feeling hopeful. Preliminary findings will be reported. DISCUSSION: Identification of health research priorities will allow each organisation and region of Queensland to develop research initiatives and the translational outcomes that are a focus for their community members.

Health programs and services designed to support Aboriginal and Torres Strait Islander (herein Indigenous) women, babies and their families are a critical investment to improve birthing and health outcomes, and potentially impact the life course of Indigenous Australians. The Indigenous Health Research Priorities study aims to identify research priorities for families during pregnancy, birthing, and early childhood through a collaborative consultation process. We engaged with community members, both clients and health care staff of three community-controlled health services in Far North Queensland. Yarning sessions were held to identify health research priorities with and for local Indigenous families. Feedback forms were collected to gauge engagement and satisfaction with the research process. Twelve yarning sessions with 61 participants highlighted they valued sharing stories, being heard, having a voice, and feeling hopeful. Identifying health research priorities will allow each organisation and region of Queensland to develop health programs and services and research initiatives that are important for their community members.Once the yarning group data is analysed, we will return to discuss, prioritise, and reach consensus on those health issues identified during the yarns with communities, using a Delphi study. The Delphi will run as an interactive workshop using playing cards and group discussions, where participants will rank the importance of the health issues for their community. Prioritising the top 10 health issues will help to ensure research is designed better for and with communities, so that future research directions meet the needs identified and self-determined by Indigenous communities.

Listening to First Nations women's voices, hearing requests for continuity of carer, trusted knowledge and family involvement: A qualitative study in urban Darwin.

PROBLEM: Australian First Nations women are more likely to commence care later in pregnancy and underutilise maternal health services than non-First Nations women. BACKGROUND: Disrespectful maternity care is a major barrier to care-seeking in pregnancy, often resulting in later commencement and underutilisation of care. AIM: We aimed to identify barriers and enablers to pregnancy-related care-seeking for Australian First Nations women living in the Darwin region through yarning about their experiences of pregnancy care. METHODS: Ten Australian First Nations women shared stories about their pregnancy care journeys. Yarns took place at a time and location determined by the women, with recruitment continuing until saturation was reached. FINDINGS: Emerging themes included a desire for continuity of carer, particularly with midwives; access to trustworthy information, enabling informed decision-making; and a need to have family involved in all aspects of care. No specific barriers were identified within this cohort DISCUSSION: Universal access to continuity of carer models would provide women with the relational care they are asking for as well as address other identified needs, such as a desire for information relevant to their pregnancy; and space for partners/family members to be involved. The themes that emerged provide a picture of what a positive, respectful pregnancy care experience could be for First Nations women within the Darwin Region, thus enabling care-seeking in pregnancy. CONCLUSION: Although the public sector and Aboriginal Controlled Community Health Organisations currently provide continuity of carer models, robust systems ensuring these models are made available to all women are lacking.

Thoracic Society of Australia and New Zealand (TSANZ) position statement on chronic suppurative lung disease and bronchiectasis in children, adolescents and adults in Australia and New Zealand.

This position statement, updated from the 2015 guidelines for managing Australian and New Zealand children/adolescents and adults with chronic suppurative lung disease (CSLD) and bronchiectasis, resulted from systematic literature searches by a multi-disciplinary team that included consumers. The main statements are: Diagnose CSLD and bronchiectasis early; this requires awareness of bronchiectasis symptoms and its co-existence with other respiratory diseases (e.g., asthma, chronic obstructive pulmonary disease). Confirm bronchiectasis with a chest computed-tomography scan, using age-appropriate protocols and criteria in children. Undertake a baseline panel of investigations. Assess baseline severity, and health impact, and develop individualized management plans that include a multi-disciplinary approach and coordinated care between healthcare providers. Employ intensive treatment to improve symptom control, reduce exacerbation frequency, preserve lung function, optimize quality-of-life and enhance survival. In children, treatment also aims to optimize lung growth and, when possible, reverse bronchiectasis. Individualize airway clearance techniques (ACTs) taught by respiratory physiotherapists, encourage regular exercise, optimize nutrition, avoid air pollutants and administer vaccines following national schedules. Treat exacerbations with 14-day antibiotic courses based upon lower airway culture results, local antibiotic susceptibility patterns, clinical severity and patient tolerance. Patients with severe exacerbations and/or not responding to outpatient therapy are hospitalized for further treatments, including intravenous antibiotics and intensive ACTs. Eradicate Pseudomonas aeruginosa when newly detected in lower airway cultures. Individualize therapy for long-term antibiotics, inhaled corticosteroids, bronchodilators and mucoactive agents. Ensure ongoing care with 6-monthly monitoring for complications and co-morbidities. Undertake optimal care of under-served peoples, and despite its challenges, delivering best-practice treatment remains the overriding aim.

Differences in the pattern and cost of hospital care between Indigenous and non-Indigenous Australians with cirrhosis: an exploratory study.

BACKGROUND: Liver diseases are important contributors to the mortality gap between Indigenous and non-Indigenous Australians. AIMS: This cohort study examined factors associated with hospital admissions and healthcare outcomes among Indigenous Australians with cirrhosis. METHODS: Patient-reported outcomes were obtained by face-to-face interview (Chronic Liver Disease Questionnaire and Short Form 36 (SF-36)). Clinical data were extracted from medical records and through data linkage for 534 patients (25 indigenous). Cumulative overall survival (Kaplan-Meier), rates of hospital admissions and emergency presentations, and costs were assessed by indigenous status. Incidence rate ratios (IRR; Poisson regression) were reported. RESULTS: Indigenous Australians admitted to hospital with cirrhosis had lower educational status compared with non-indigenous patients (79.2% vs 43.4%; P < 0.001). The two groups had, in general, similar clinical characteristics including disease severity (P = 0.78), presence of cirrhosis complications (P = 0.67), comorbidities (P = 0.62), rates of cirrhosis-related admissions (P = 0.86) and 5-year survival (P = 0.30). However, indigenous patients had a lower score in the SF-36 domain related to bodily pain (P = 0.037), more cirrhosis admissions via the emergency department (IRR = 1.42, 95% confidence interval (CI) 1.10-1.83) and fewer planned cirrhosis admissions (IRR = 0.32, 95% CI 0.14-0.72). The total cost for cirrhosis-related hospital admissions for 534 patients over 6 years (July 2012 to June 2018) was A$13.7 million. The cost of cirrhosis-related hospital admissions was double for indigenous patients (cost ratio = 2.04, 95% CI 2.04-2.05). CONCLUSIONS: Our data highlight the disparities in health service use and patient-reported outcomes, despite having similar clinical profiles. Integration between primary care, Aboriginal Community Controlled Health Organisations and liver specialists is critical for appropriate health service delivery and effective use of resources. Chronic liver disease costs the community dearly.

Partnering with support persons and clinicians to improve the health care experiences of patients with cirrhosis.

AIM: To explore the care experiences of Aboriginal and Torres Strait Islander Australians diagnosed with cirrhosis with a focus on support needed. BACKGROUND: Cirrhosis disproportionately affects Indigenous Australians, and liver diseases contribute to the mortality gap between Indigenous and other Australian adults. DESIGN: A qualitative study. METHODS: Using yarning methods, Indigenous patients (n = 13) and support persons (n = 3) were interviewed by an Aboriginal researcher during April-July, 2020. Thematic analysis was used to identify common themes using an inductive approach. RESULTS: Six themes emerged. (1) Experience of diagnosis. This theme included stories of delays in the system, self-awareness of signs and symptoms and relief of being diagnosed. (2) 'Shame, shame, shame'. Experiences of prejudices and discrimination from health professionals, the lack of understanding of cirrhosis among health professionals, and stories about alcohol cessation and counselling around alcohol cessation. (3) Health literacy. Participants' understanding of cirrhosis was variable. While the importance of knowledge was recognised, 'what works for someone might not work for others'. Several patients partnered with their support persons and clinicians to bridge the health literacy gap. (4) Sources of support included family and friends, transport facilities, health professionals and peers. (5) Positive and negative aspects of communication and patient consultation were discussed. (6) Psychosocial counselling to 'look after the caring side'. The need for more mental health care services was raised. CONCLUSION: Barriers related to poor health literacy, stigma and lack of practical and emotional support, and issues with communication and patient consultation, may lead to inequitable access to cirrhosis care and treatment for Indigenous Australians. RELEVANCE TO CLINICAL PRACTICE: Gaining knowledge of the experiences of Indigenous Australians with cirrhosis is important for providing patient-centred and culturally appropriate care. Liver specialist nurses have an important role in bridging the health literacy gap and in supporting Indigenous patients and families.

Change in health outcomes for First Nations children with chronic wet cough: rationale and study protocol for a multi-centre implementation science study.

BACKGROUND: In children, chronic wet cough may be a sign of underlying lung disease, including protracted bacterial bronchitis (PBB) and bronchiectasis. Chronic (> 4 weeks in duration) wet cough (without indicators pointing to alternative causes) that responds to antibiotic treatment is diagnostic of PBB. Timely recognition and management of PBB can prevent disease progression to irreversible bronchiectasis with lifelong consequences. However, detection and management require timely health-seeking by carers and effective management by clinicians. We aim to improve (a) carer health-seeking for chronic wet cough in their child and (b) management of chronic wet cough in children by clinicians. We hypothesise that implementing a culturally integrated program, which is informed by barriers and facilitators identified by carers and health practitioners, will result in improved lung health of First Nations children, and in the future, a reduced the burden of bronchiectasis through the prevention of the progression of protracted bacterial bronchitis to bronchiectasis. METHODS: This study is a multi-centre, pseudorandomised, stepped wedge design. The intervention is the implementation of a program. The program has two components: a knowledge dissemination component and an implementation component. The implementation is adapted to each study site using a combined Aboriginal Participatory Action Research and an Implementation Science approach, guided by the Consolidated Framework of Implementation Research. There are three categories of outcome measures related to (i) health (ii) cost, and (iii) implementation. We will measure health-seeking as the proportion of parents seeking help for their child in a 6-month period before the intervention and the same 6-month period (i.e., the same six calendar months) thereafter. The parent-proxy, Cough-specific Quality of Life (PC-QoL) will be the primary health-related outcome measure. DISCUSSION: We hypothesise that a tailored intervention at each site will result in improved health-seeking for carers of children with a chronic wet cough and improved clinician management of chronic wet cough. In addition, we expect this will result in improved lung health outcomes for children with a chronic wet cough. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry; ACTRN12622000430730 , registered 16 March 2022, Retrospectively registered.

Translating research into action: The design and development of an Indigenous specific suicide intervention skills training program (I-ASIST).

Note: We respectfully refer to Aboriginal and Torres Strait Islander people as Indigenous in this study. OBJECTIVE: To design and develop an Indigenous specific suicide intervention skills program that focuses on education and intervention training as an effective suicide prevention strategy. METHOD: Using a co-designed wrap-around framework, we developed a program in collaboration with >90 communities, stakeholders and service providers across Australia to understand knowledge, awareness and sense of connectedness between at-risk groups and health services or support groups. RESULTS: The I-ASIST training provides participants with the necessary skills and knowledge to apply a suicide intervention model. The framework behind the intervention model provides caregivers the awareness to recognise when someone may be at risk of suicide. It then gives them the skills to connect with a person at risk of suicide and to understand and clarify that risk, steps to keep that person safe for a specific period and then provide them with the resources or links required for further help. The program enables the development of knowledge through interactive strategies through cultural recognition and empowerment of participants. Based on a social-enterprise model, I-ASIST has been translated into a certified program supported by LivingWorks Australia. CONCLUSION: Based on a strengths-based and self-determination model of co-design, this grass roots innovative framework creates suicide safer communities.

SMS reminders to improve the uptake and timeliness of the primary immunisation series in infants: a multi-centre randomised controlled trial.

Background: Immunisation timeliness continues to present challenges to achieving optimal vaccine coverage in infancy, particularly in disadvantaged groups and Australian First Nations infants. We aimed to determine whether a tailored, educational SMS reminder improves the timeliness of immunisation in infants up to seven months of age. Methods: A pragmatic, three-arm, parallel-group, randomised controlled trial of immunisation reminders was conducted in two First-Nations-specific primary health care centres and two public hospital antenatal clinics in South East Queensland, Australia. Live-born infants of mothers enrolled during pregnancy were randomised at birth and followed to eight months of age. One group received a simple SMS reminder at two weeks before, the week of, and two weeks after the due date for immunisation at two, four and six months of age. The second group received a tailored SMS with an educational message at two weeks before and on the date immunisations were due; those not immunised two weeks following the due date were offered support to immunise the baby. Controls received no intervention or contact until the baby turned seven months of age. The primary outcome was the proportion of infants age-appropriately vaccinated at seven months of age as recorded on the Australian Immunisation Register. Secondary outcomes included vaccination status at three and five months of age. Results: Between 30 May 2016 and 24 May 2018, one hundred and ninety-six infants (31% First Nations infants) were randomised. At seven months of age, 54/65 (83.1%) infants in the educational SMS ± additional support group (ESMS±S) were age-appropriately immunised, compared to 45/64 (70.3%) in the simple SMS group and 45/67 (67.2%) in controls. Differences were most marked at five months of age: ESMS±S 95.5%; simple SMS 73.4%; controls 75.8%. The difference between the ESMS±S group and the other two groups at seven months of age was no longer apparent when those who received additional support beyond the SMS were assumed to have not been vaccinated if that support had not been received. Discussion: A tailored SMS reminder system using an educational message and with provision of additional support to mothers is more effective in improving immunisation timeliness in infants at three and five months of age than a simple message and no intervention. The additional support was required at seven months of age in order to achieve higher coverage in the ESMS±S group.

The impact of Marfan syndrome on an Aboriginal Australian family: 'I don't like it as much as I don't like cancer'.

Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder. Aortic dilatation/dissection and ectopia lentis are the most severe features, which affect physical functioning and psychological well-being. In Aboriginal Australians, there is little psychosocial research on genetic conditions. This study explored the physical, psychological, and practical impacts of MFS on Aboriginal Australians. Eighteen (8 affected and 10 unaffected) members of a large Aboriginal Australian family with MFS participated in an ethically approved study. Semi-structured qualitative interviews were conducted, transcribed verbatim, and analyzed thematically. All individuals reported challenges from MFS, negatively affecting day-to-day living. Severe vision impairment was perceived as the greatest challenge, contributing to feelings of stigma and exclusion. With aging, concerns shifted toward cardiac complications. The unpredictability of lens dislocation and aortic dissection was reported to be psychologically challenging. Participants described MFS-related barriers to obtaining and retaining employment, especially following cardiac surgery; with consequential psychological and financial hardships. Participants articulated that their cultural drive to support the ill and respectfully mourn the deceased, regardless of distance, resulted in a significant financial burden. Additionally, when hospitalization and/or funerals occurred, financially solvent individuals were expected to share resources, without any expectation of repayment or reciprocity (i.e., 'demand sharing', common in Aboriginal Australian culture). This study documents the nature and pervasiveness of uncertainty for both affected and unaffected members of an MFS family. Many reported challenges are consistent with other MFS cohorts (including stigma, social exclusion, and unemployment). However, our findings suggest that cultural values may exacerbate the financial costs of MFS for Aboriginal Australians.