The below study aims to understand the current strengths and weaknesses in the healthcare system and will collect input from the metabolic healthcare workforce (e.g. clinicians, nurses, dietitians, genetic counsellors, diagnostic scientists) patients, carers and families navigating the healthcare system. Developing a national rare disease workforce strategy that responds to current and future demands is a key priority of the National Strategic Action Plan for Rare Diseases – and it needs the patient voice and expertise.