Your role as a Health Professional
Based on research from the Australian Paediatric Surveillance Unit, people living with rare disorders face significant challenges when navigating the healthcare system, such as:
- Diagnostic delays
- Lack of available treatment
- Difficulty finding the right health service
It is important to recognise the perspectives of families with members that have a rare disease such as SATB2-Associated Syndrome. Many of these families feel isolated, under-supported and often face economic hardship due to the rarity of the condition. With this rarity comes an imbalance in support and access to services needed. As a result, it is important to recognise the role you have in these families’ journeys as they continue to support their family members and children. Within this role, health professionals from various professions help lay the foundation for families, through assessments and therapy to develop NDIS plans and access necessary services that would be scarcely available given the rarity of their genetic disorder.