Edition of 18 March 2024

On 29 February, EURORDIS launched its new Championing the Rare (#ActRare2024) campaign, which calls for specific policy actions to improve the lives of the 30 million people living with a rare disease in Europe ahead of this year’s EU elections.

The campaign aims to raise awareness of the challenges facing the rare disease community by targeting prospective European Parliament members, nominees for the next European Commission, and other prospective EU policy-makers. #ActRare2024 outlines eight vital policy domains where advancements are sorely needed, all of which are grounded in the findings of the Rare 2030 foresight study. The campaign’s specific policy calls are:

• Establishing a comprehensive European policy framework on rare diseases;
• Promoting earlier, faster, and more accurate diagnoses;
• Integrating national and European healthcare pathways;
• Ensuring timely access to affordable and innovative treatments;
• Delivering integrated, person-centred and lifelong holistic care;
• Boosting innovative and needs-led research and development;
• Optimising data for patient and societal benefit;
• Supporting sustainable and resilient treatment development.

Coinciding with the launch of #ActRare2024, EURORDIS and more than 20 national rare disease alliances from across the EU have published an open letter to Ursula von der Leyen, President of the European Commission, calling for the adoption of a European Action Plan for Rare Diseases in the Commission’s work programme for 2024-2029.

If you want to learn more about how you can get involved in #ActRare2024 and push for positive change in the EU’s rare disease policy, visit the campaign’s webpage.

Recently, an article was published in the journal Rare which investigates the experiences of children living with a rare disease (CLWRD) and their caregivers throughout the diagnostic odyssey. Based on their findings, the authors make recommendations for how medical practitioners can better support patients and their loved ones throughout the process.

CLWRD often experience a long diagnostic odyssey, sometimes waiting years before obtaining a definitive diagnosis. This uncertainty can cause anxiety, stress, and generally impact the physical, mental, and financial wellbeing of them and their families. In this study, researchers conducted a narrative review to understand the experiences and key challenges of the diagnostic odyssey from a patient perspective. Four main themes were identified, along with specific subthemes. These were:

• Parental burden (subthemes: multiple roles/duties; conflict with the adolescent)
• Diagnostic odyssey (subthemes: delayed diagnosis; lack of practitioner knowledge; value of diagnosis)
• Lack of support (subthemes: psychological; financial)
• Diagnosis (subtheme: mode of delivery)

Based on these findings, the authors present a set of recommendations to help improve outcomes for CLWRD and their families. These include a need for improved communication between practitioners and patients; better education of clinicians on rare diseases; faster and clearer referral pathways; and better parental education about and access to support groups.