Challenge
Spinal muscular atrophy (SMA) is a rare, complex disease that severely affects children’s daily functioning and quality of life, and puts a heavy emotional and financial strain on families. In Greece, parents and caregivers of children with SMA often face fragmented services, long delays, and significant out-of-pocket payments as they navigate through diagnosis, treatment, and ongoing support processes for SMA. With no clear, integrated care pathway, and not equitable availability of specialized services across regions, many parents report feeling that they must coordinate care on their own, navigating time-consuming processes that do not reflect international best practices or fully support patients and families’ needs.
Ambition
This project aimed to document the real-world experience of parents and caregivers and to redesign the SMA care pathway accordingly. The main goal was to map current practices, identify gaps between international standards and the current Greek healthcare system organization, and develop a 3-year National Action Plan to standardize care, improve access to innovative treatments, and strengthen the sustainability and resilience of the Greek National Health System.
Results
Survey insights from 44 parents of children with SMA in Greece showed that:
Additionally:
- Caregiver burden scores were higher in more severe SMA cases.
- Caregiver burden was significantly associated with lower functioning and quality of life for children with SMA.
Impact
By detailing the concerns and needs and quantifying the SMA burden on parents/caregivers of children with SMA, the project indicates that innovative therapies alone are not enough, and provides a strong evidence base for health policy advocacy. The project calls for a National Action Plan that focuses on integrating care organization and delivery for pediatric SMA following a coordinating, multidisciplinary approach, which will support better care outcomes for children and their families while strengthening the resilience and sustainability of the National Health System.
