The unmet needs of children with rare diseases in rural and remote Australia

Rare diseases describes a group of life-threatening or chronically debilitating conditions occurring in less than 1 in 2000 people and that affect approximately 8% of Australians (two million people). 70% of RD are exclusively childhood onset and continue throughout life. Most RD cannot be prevented, are complex with multi-system dysfunction, disabling, incurable and have no effective treatment. The cumulative impact of over 7000 RD on the WA health system and the population health of Western Australians is enormous. The WA Department of Health (DoH) is advancing clinical RD innovation and translational research for physical and mental health and has developed extensive RD networks and international partnerships. This culminated in the Child and Adolescent Health Services (CAHS), which is a service within DoH, opening a RCC at the Perth Children’s Hospital (PCH) in early 2022 — the first of its kind in the world. The Centre provides a cross-sector care coordination service which aims to holistically address the challenges faced by children and young people and their families living with RD.

Zade’s story

Zade is one of the many patients who have benefited from the RRC. Zade has spinocerebellar ataxia type 29, a rare congenital onset cerebellar ataxia that progressively impacts his gross motor function with impacts on gait from early childhood. Zade’s complex condition has required access to ongoing specialist therapeutic management and is complicated given he lives over 1500 kilometres from some of his specialist care available at Perth Children’s Hospital. Even Zade’s initial diagnosis required transfer to Perth at eight months of age. Now, at almost six years of age, interruptions to the lives of the whole family have become an unfortunate normality due to Zade’s diagnosis. His parents, Louise and Bradley, spend their time filling out paperwork to apply for funding to cover flights and accommodation away from home in hospital supported arrangements. They have become experts in Zade’s disease to advocate for elements of his care in the Pilbara region.

Looking at the local care available to Zade, he is cared for by paediatric services in the Pilbara and has National Disability Insurance Scheme (NDIS) funding for allied health support. Despite funding, there is a dearth of specialists and RD knowledge to support care plan implementation. Sub-optimal access and care coordination has become part of Zade’s RD experience. His closest care is still at least 30 minutes away and can only be accessed through a time-consuming process along a long stretch of a busy country road. This however is only possible when a therapist is available. The service is frequently staffed by locum doctors and there is limited continuity of care due to a range of different doctors covering the service. Each time, his parents start from the beginning with another care provider, telling Zade’s story to a new specialist and describing his specific medical requirements again. This is becoming increasingly scripted for his parents as time progresses, which is a frustrating and emotionally draining process.  

Rare Care for the Rural and Remote

The RCC takes a patient like Zade and implements a cross-sector model of care that is bespoke to consumer needs. The team of paediatricians, nurse specialists, school liaison teachers, general practitioners (GP), NDIS coordinators, genetic counsellors and mental health specialists can band together in a single appointment to troubleshoot issues. In a single appointment, the team can review his clinical progress, create a Rare Care visual summary document and can liaise with a consistent GP close to home so the experience of re-explaining his condition becomes less frequent. Rare Care nursing staff can take the five specialist appointments he has at PCH and coordinate them to occur at the same time to reduce travel. Application to NDIS can be reviewed and advocating for funding for consumables and equipment can be undertaken. A genetic counsellor can explain and advise the family, whilst our school liaison teacher can work with his teachers to optimise care and create understanding of educator needs in caring for Zade. The Rare Care mental health team can offer links to support groups and can follow up to ensure that his parents remain well and can access support when they need. Over a single appointment, the RCC can find unique and customised solutions for the gaps that existed in the care of RD children like Zade and their families.

The RCC is improving the health and wellbeing services for children and their families living with RD. For Zade and many children like him with RD living in rural and remote Australia, limited access and poor care coordination can be defining features of their RD experience. In order to change this narrative and improve services we must consider priority groups, including those with RD living in rural and remote areas and those of Indigenous background, as a larger proportion of the population in many rural and remote areas. The RCC has taken on feedback from consumers and reviewed the unmet need for unique models of care for those with rare diseases in regional and rural areas. 

The Pilbara Hub

The first Regional Hub of the RCC, the Pilbara Hub, is currently being implemented following extensive multi-stakeholder engagement to address unmet RD needs. It is a joint initiative between the CAHS, where the existing metropolitan based service resides, and the WA Country Health Service (WACHS). This is partnered with Aboriginal Community Controlled Health Organisations (ACCHO) and other service providers in the region across a range of sectors such as health, education, disability and social services. Current infrastructure is being used with locally employed staff, who are also supported through the existing RCC team, to deliver an anticipated range of patient, family, health system and wider economic and social benefits. Economic modelling predicts that the return on investment (ROI) through the Pilbara Hub will be greater than the current ROI of approximately 5:1 of the metropolitan based RCC services. Through this we can directly support the health and wellbeing of children and their families living with RD in the Pilbara region whilst attracting and developing the local workforce leading to regional capacity building. 

For Zade, a Pilbara Hub would mean more consistent care services that promote his health locally. Although different and adapted to specific rural circumstances, the Hub will share similarities with current Perth-based RCC services. Local knowledge of services and practitioners would prove invaluable in community development and practitioner upskilling. Economic benefits, including patient travel cost savings and carer productivity benefits would be helpful for families and communities across the region. Our RCC Pilbara Hub can also provide a blueprint to be adapted and adopted to help address rural and regional inequity for RD patients. 

Dr Bradley MacDonald is a rural paediatrician, clinician-researcher and Clinical Lead of the Pilbara Rare Care Hub, working across Perth Children’s Hospital and regional Western Australia with expertise in rare diseases, complex care, paediatric cardiology, Indigenous child health, rural education and models of care. This work is undertaken with co-authors from the wider Pilbara Rare Care Hub team and colleagues across the Rare Care Centre at Perth Children’s Hospital with assistant from emerging leaders in the management of children with Rare Diseases.