Rare Diseases Europe (EURORDIS), a leading advocacy group, has launched the ActRare2024 campaign, aiming to shape European healthcare policies to better support the 30 million people affected by rare diseases across the continent. Reinhard Pell, founder and chair of Cure MCOPS12, shares the journey of his son Simon’s diagnosis with MCOPS12, an ultra-rare genetic disorder. This condition, marked by severe developmental delays and health complications, has driven the Pell family to advocate for better diagnostic and support systems within the EU.
When Simon was born in July 2017 with microphthalmia and respiratory issues, Reinhard and Edith Pell faced an arduous path to diagnosis. Despite their scientific background and proactive search for answers, it took eight months—a relatively swift timeline in the rare disease community—to identify Simon’s condition through genetic testing, a process fraught with bureaucratic and financial hurdles. Their experience underscores the need for more accessible, timely, and affordable diagnostic services across Europe.
EURORDIS is urging European policymakers to adopt a set of eight strategic actions aimed at improving the lives of families like the Pells. These include promoting equal access to specialist diagnostics and strengthening the network of healthcare providers specializing in rare diseases. By recognizing undiagnosed rare disease patients as a vulnerable group, the EU can foster a more inclusive healthcare environment that accommodates all stages of diagnosis and care.
ActRare2024 Campaign Targets Enhanced Care and Research for Rare Diseases Like MCOPS12
Daily life with MCOPS12 involves continuous challenges, as shared by Reinhard. Simon, now seven years old, requires extensive support for basic activities and faces significant cognitive delays. The financial strain of necessary home modifications and specialized equipment, often not covered by health insurance, highlights the gaps in current support systems. Reinhard advocates for more flexible financial aid mechanisms that allow families to tailor solutions to their specific needs, suggesting that a lump sum support approach could be more effective.
The ActRare2024 campaign also emphasizes the need for integrated, person-centered care that spans a patient’s lifetime. This approach should include psychological support and address the financial and practical challenges families face daily. EURORDIS calls on the EU to implement policies that ensure comprehensive care and support for rare disease patients, transcending mere medical treatment to include all aspects of patient and family well-being.
Reinhard’s commitment extends beyond personal advocacy; he aims to drive research and development for MCOPS12 by collaborating with researchers and other families affected by the condition. The absence of substantial research at the time of Simon’s diagnosis highlights a critical gap in rare disease research and treatment options. Reinhard’s efforts with Cure MCOPS12 seek to fill this void, emphasizing the need for EU-backed financial incentives and support for rare disease research.
ActRare2024 Campaign Pushes for EU Focus on Rare Diseases Research and Care
The campaign advocates for a robust European regulatory science agenda that supports rare diseases, focusing on emerging technologies and innovative therapies that could revolutionize treatment and diagnosis. By facilitating patient involvement in research and prioritizing diseases like MCOPS12, which currently lack effective treatments, the EU can play a pivotal role in advancing healthcare solutions for rare conditions.
Looking ahead, Reinhard remains hopeful and driven to improve life for Simon and others with MCOPS12 through Cure MCOPS12. This network not only offers support but also fosters crucial research and development efforts. As the European Union prepares to set its healthcare agenda for the next five years, it is imperative that it considers the specific needs of the rare disease community to ensure timely, effective, and inclusive care.
Resource: Rare Diseases Europe, May 13, 2024
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