Rare paediatric neurological conditions are debilitating diseases with massive impacts on the day-to-day lives of children and their families. Most rare diseases have neurological symptoms, and about 90% of those affecting children have major neurological effects impacting the ability to achieve key cognitive and physical development milestones.

This report 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. Ultimately, policymakers should aim to leave no one behind. Healthcare professionals will play an important role, for which education will be critical, as well as ensuring patients are referred to centres of excellence better able to provide quality care.

This report focuses on two disease groups—LSDs and neurotransmitter disorders—for two reasons. First, these diseases run a chronic course and therefore place sustained personal, social and economic burdens on patients and their families. Second, with advances in molecular genetics and cell biology, the underlying cause can be identified and allow the disease mechanism to be addressed in a manner that may improve clinical management and care.

These disorders are caused by disruptions to biological pathways, which can impact multiple organs and systems and therefore cause diverse clinical manifestations and symptoms, requiring multidisciplinary care. Although rare individually, there are numerous types of these disorders. They are frequently inherited as a recessive trait, meaning families need genetic counselling. Treatment, where available, is focused on mending disrupted pathways or alleviating the effects of their disruption.

To highlight policy priorities for improving care, patient outcomes and quality of life, Economist Impact embarked on a project to better understand what impact these disorders have on patients and their families.

Research findings include:

• Diagnosis remains a major challenge in Europe: both sets of conditions are difficult to diagnose. As they share symptoms with more common conditions, this leads to delays in achieving an accurate diagnosis. While there are efforts in Europe to address the need for educating medical professionals around these conditions, the average time from the first symptom to diagnosis is at least three to five years at best, experts told us. For the best outcomes in preventing lifelong disabilities, some of these disorders require treatment from birth or the first few months of life. Lack of a definitive diagnosis is also a stressor for families and carers. Even where there is no treatment available, a diagnosis enables families to understand the condition, access wider supportive care and gain advice from other families in the same position.
   
• Access to newborn screening and genetic testing varies considerably in Europe: the provision of neonatal screening, which can identify neurological conditions at birth, varies dramatically between European countries. Italy is seen as the “champion”, screening for over 40 conditions, while others, like the UK and Romania (nine and four, respectively), screen for fewer conditions. Screening raises complex ethical, practical and economic considerations that healthcare systems must grapple with. While the cost of genetic testing has fallen, some families still face hurdles accessing testing and genetic counselling. Analysing genetic data is complicated and time-consuming and there is a shortage of analysts of genetic data and genetic counsellors across Europe.
   
• Access to multidisciplinary care is essential: patient care needs to be coordinated and managed through specialist centres, with some care delivered locally. Many of these conditions are ultra-rare, meaning there may only be a handful of patients with a specific condition in Europe and few specialists experienced in managing them. Specialist centres have started collaborating to provide the best care and outcomes for patients through European Reference Networks (ERNs) by developing standardised protocols and holding multidisciplinary virtual panels to review patients. While ERNs are a major step in the right direction, aspects of their work still need improvement.
   
• Access to innovative therapies is a challenge in some countries: advanced therapies for rare diseases may see delays in adoption or not be funded at all. Some patients may need to travel abroad to access new therapies because their home country lacks specialised centres, which, due to their very nature, are not established in all countries. European countries are also evolving a variable approach to how advanced therapies for rare diseases are considered for reimbursement. Although there are mechanisms to support cross-border healthcare in Europe, the process is not well known or easy to use. An effective EU cross-border healthcare framework is critical to enable patient access to advanced therapies for severe and rare genetic diseases.
   
• Registries of patients are essential tools for research in understanding the disease and developing new treatments: these provide data on patterns of genetic mutations and symptoms, natural disease progression, delivery of care and treatment outcomes, including long-term safety and effectiveness. They can also help connect patients with investigators that are setting up clinical trials for innovative therapies. The scope of current registries is limited, as they are based around the place and type of treatment, and there are limited comprehensive national or Europe wide registries.
   
• Patient and family support is crucial: healthcare systems and healthcare professionals try their best to support patients and families living with these conditions, but outside of the family, much of the burden lies with rare disease patient groups. The amount of care required means that at least one parent usually gives up work to care for the child full time, which has a psychological impact and can affect finances. Relationships and marriages can face pressures, and siblings are also affected. Rare disease patient groups do fill some care and support gaps, including information on services, schools, home adaptions, social care and benefits. They also help families to negotiate the system, but are limited in number and not sufficiently well resourced. 

Policy takeaways

The report’s conclusion highlights the key areas for consideration by policymakers and healthcare providers to improve care. These are focused on ensuring prompt diagnosis and effective management. In summary:

• 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