The recent report “Rare paediatric neurological diseases: A focus on Europe”, published in February 2022 by the Economist Impact, focuses on the European experience of people affected by lysosomal storage disorders (LSDs) and neurotransmitter diseases, as well as challenges for healthcare professionals treating patients with these diseases and key areas to be considered for improving healthcare.
The Economist Impact report, commissioned by PTC Therapeutics, has been produced through a review of academic evidence, data collection and interviews with representatives of clinical practice and patient organisations and highlights the challenges for rare disease patients and families in terms of diagnosis, treatment and quality of life.
Prof. Maurizio Scarpa, Coordinator of the European Reference Network for Hereditary Metabolic Disorders (MetabERN), interviewed about the diagnostic challenges of patients commented that “usually, a rare disease is only suspected after a battery of tests and the exclusion of other common diseases, so these children and their parents do not have an easy life”, adding that rare diseases patients “undergo many tests and most of the time they receive a wrong diagnosis and therapies”.
The report’s conclusions highlight key policy takeaways for improving care focused on ensuring prompt diagnosis and effective management, involving:
- Neonatal screening for a wider range of conditions
- Standardised neonatal screening policies embedded within national health systems (read also our recent publication on newborn screening)
- More genetic counsellors and greater access to them
- Further training for all doctors on rare conditions
- Improved access to, and collaboration between, specialist centres
- Comprehensive and interoperable registries needed
- A more user-friendly cross-border healthcare framework
- Funding models taking more account of the unique nature of rare diseases
- Improve the quality of life and wellbeing of the child and family
- Care pathways need to acknowledge these situations and encourage greater provision
- Patient groups need more support, as they act as linchpins for families and carers
