On 23rd February 2022, the Economist Impact published a report “Rare Paediatric Neurological Diseases: A Focus on Europe”. This White Paper analyses challenges and lists policy recommendations to improve the care of children with rare neurological diseases. At the top of the recommendations list is improved access to standardized newborn screening, which varies considerably across Europe. The report also advocates for the expansion of European Reference Networks to support a greater number of patients and calls for strengthening the EU’s cross-border health legislation.
6 – 8% of the EU population – between 27 million and 36 million people – are affected by rare diseases. The majority of them have neurological manifestations and around 90% of those affecting children have major neurological effects. Unfortunately, rare paediatric neurological conditions are debilitating diseases with massive impacts on the day-to-day lives of children and their families.
At the moment, the Orphanet classification system lists almost 50 rare neurological disorders. At the same time, the authors admit that it is difficult to specify the exact number of rare neurological diseases, as this depends on the criteria and sensitivity of the classification system.
The White Paper highlights the difficulties in achieving a timely and accurate diagnosis as well as the numerous challenges to providing adequate care and support. It concludes that policymakers should work to develop a rare diseases healthcare ecosystem that is sufficiently resourced and organised to enable even the most complex conditions to be assessed and managed expeditiously.
The key research findings included in the report are:
- Diagnosis remains a major challenge in Europe
- Access to newborn screening and genetic testing varies considerably in Europe
- Access to multidisciplinary care is essential
- Access to innovative therapies is a challenge in some countries
- Registries of patients are essential tools for research in understanding the disease and developing new treatments
- Patient and family support is crucial
To address these areas, a number of policy measures are recommended:
- Neonatal screening for a wider range of conditions
- Standardised neonatal screening policies embedded within national health systems
- 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
The full report can be accessed here.
A webinar to discuss the White Paper findings is taking place on 23rd March 2022, 2pm – 3pm CET. You can find out more and register on this page.
Background information on the European Reference Networks
In 2017, the European Commission established 24 European Reference Networks – ERNs – for rare diseases to enable patients with rare and complex conditions to benefit from the best treatment and advice for their condition that is available in the EU. Each ERN focuses on a specific group of rare or low-prevalence complex diseases. At the moment, specialised healthcare teams in more than 300 hospitals in 26 European countries are involved.
There are also ERNs on rare neuromuscular disorders (ERN-NMD), rare neurological diseases (ERN-RND) and rare and complex epilepsies (ERN EpiCARE).
ERNs develop guidelines and consensus papers, facilitate training and knowledge exchange, link with the major patient organisations, and undertake research to improve understanding of the disease and management of patients.
Currently, the ERN-NMD has an online survey open on the Educational needs in Rare Neuromuscular Diseases, intended to map the training needs in rare Neuromuscular diseases in Europe. It can be filled in on this page.
Rare diseases in the context of the Russian invasion of Ukraine
Around 2 million people in Ukraine have a rare disease and, with the war raging, access to certain medical supplies is increasingly difficult. There are also reports that moving patient data and health records is challenging due to significant technological, logistical and legal obstacles. So far, the ERNs have mobilized to help patients with rare diseases, as hospitals in neighbouring countries receiving the majority of refugees work with their corresponding reference networks. They’ve also set up an information website specifically for their needs, available in languages including Ukrainian and Russian.