Significant strides have been made in the care for West Australian children with a rare or undiagnosed disease with the launch of the Rare Care Centre (RCC) at Perth Children’s Hospital.
It is taking a leading role in international efforts to help establish rare diseases as a global policy priority while aiming to deliver integrated and networked care locally. It is the first centre in the Southern Hemisphere created to respond to the need to connect and provide a range of cross-sector rare disease care services to address challenges for children and families living with rare and undiagnosed diseases.
Alongside implementing its state-wide clinical service for late 2022, the RCC has commenced streams of activity covering education and workforce capacity building; digital technologies; partnership and advocacy; and connection to global expertise, research, and clinical trials.
Increasing primary care provider capacity and confidence in rare disease care is a key focus for the RCC.This includes GP training and Aboriginal Health Worker positions, GP training resources and workshops as well as co-creating online communities of practice linking primary and specialist care.
Collectively, RCC activities will also inform and help lay pathways for adult care.
The RCC is a partnership between Child and Adolescent Health Service and multiple philanthropic foundations including the Angela Wright Bennett Foundation, McCusker Charitable Foundation (via Telethon Channel 7 Trust), Stan Perron Charitable Foundation and Perth Children’s Hospital Foundation with its major Rare Care Centre partner, Mineral Resources Limited.
Rare disease statistics are staggering. They are the biggest killer of children globally. Collectively they affect around 400 million people, with the majority of cases occurring in childhood.
Internationally, rare diseases are the single biggest health cost with care for people of all ages estimated to cost more than cancer, obesity, heart attack, stroke, and Alzheimer’s combined. Rare diseases paediatric inpatient costs in the US mount to 1.5 times the cost of all common diseases, and on parity in adults.
Now is the time to translate political willingness into action by supporting the creation of networks of experts and multidisciplinary and cross-sector specialised centres for rare disease. This will lay the foundation for the development of a Global Network for RD (GNRD).
An international panel of more than 220 medical experts and experts with lived experience, representing over 100 countries, have been active since 2020 in co-designing the model and operational framework for the GNRD. The pilot will connect multi-disciplined centres of expertise to collaborate globally, providing the bedrock of a structured, inclusive approach for all regions and all rare diseases, to help ensure no one is left behind.
The complexity of rare diseases and their infrequency have forced an evolution in the model of care from a multi-disciplinary approach towards ‘networked care’, to enable access to expertise from across an international network of experts to inform local care. The establishment of the GNRD will connect rare disease centres of expertise with progressively expanding geographical and disease coverage and be transformative to help dissolve the existing barriers for a large and vulnerable population.
The health inequities faced by people living with a rare disease are further amplified in regional and remote regions and indigenous populations. Now is the time to build on the metropolitan (PCH) hub partnerships of the Rare Care Centre to advance rare care for regional and remote regions.
We have an opportunity to partner to build on our world-leading initiatives supported by the Roy Hill Community Foundation and partners in the Pilbara, such as Pilbara Faces (3D facial analysis), Pilbara Voices (Aboriginal translations of medical terms) and Pilbara DNA (access to clinical whole genome sequencing), to deliver improved care for many thousands of remote region and Indigenous children living with a rare disease.