I've Never Heard of This! An Approach to Child and Family‐Centred Care for Children and Young People With Rare Diseases

Paediatricians strive to deliver best practice care for their patients. However, when they encounter a child with one of the over 8000 rare diseases, a majority (> 70%) of which have a genetic cause, it is challenging to find clinical guidelines and point-of-care resources to support their practice. This article provides a framework for a collaborative management approach for rare diseases. It draws on the team's experience in delivering multidisciplinary clinics for ultra-rare conditions, running a rare disease registry and undiagnosed disease programme, and in founding a rare disease patient advocacy group for SCN2A-related conditions. This article signposts useful resources to facilitate paediatricians in delivering 'wraparound' rare disease care that is comprehensive, holistic and child and family-centred. These include Australia's first National Recommendations for Rare Disease Health Care and the RARE (Rare Awareness Rare Education) portal led by the national peak body for people living with a rare disease, Rare Voices Australia. Six key approaches are suggested that paediatricians can incorporate into their clinical practice to deliver high quality care for each child and young person with a rare disease. This includes strategies to support a timely diagnosis, including accessing undiagnosed disease programmes and linking children, young people and their caregivers with peers, patient advocacy groups and rare disease registries to reduce isolation and uncertainty. As less than 5% of rare diseases are currently amenable to a targeted therapy, it also suggests resources and approaches to facilitate access to and shared decision-making about research and novel advanced therapeutics.