Advocating for children with rare diseases

In memory of Naomi and countless others, let us unite in our efforts to champion the rights and well-being of children living with rare diseases.

The 29th of February is Rare Disease Day, a day that helps shed light on the often overlooked struggles faced by many, including children battling rare conditions such as Leukodystrophy. This debilitating disease, characterised by the progressive degeneration of the brain’s white matter, presents immense challenges for affected families.

My journey into understanding rare diseases began tragically when I lost my best friend, Naomi, to Leukodystrophy in 2003, when we both were just six years old. Her memory fuels my commitment to raising awareness and advocating for better support systems for families navigating the complexities of rare diseases.

The author (r) pictured with her late best friend, Naomi, who passed away from Leukodystrophy.

The European response

The European approach to addressing rare diseases encompasses a multifaceted strategy aimed at providing comprehensive support and resources. Key elements include promoting the development of national rare diseases plans and strategies, which serve as frameworks for tailored interventions at the country level. Additionally, the establishment and sustenance of European Reference Networks offer invaluable platforms for collaboration among healthcare professionals, researchers, and patient advocacy groups.

A critical aspect of the European response involves the definition, codification, and inventory of rare diseases, facilitating accurate diagnosis and streamlined access to specialised care. Furthermore, the designation and authorisation of orphan medicinal products underscore the importance of fostering innovation in treatment options for rare conditions like Leukodystrophy.

Research stands at the forefront of efforts to broaden the knowledge base surrounding rare diseases, driving advancements in understanding disease mechanisms and therapeutic interventions. Empowering patient organisations plays a pivotal role in amplifying the voices of those affected, advocating for equitable access to healthcare services and fostering a sense of community and support.

Pioneering support for rare diseases

In Malta, significant strides have been made in enhancing the quality of life for children with rare diseases and their families. The establishment of the National Alliance for Rare Diseases Support – Malta in 2016 marked a pivotal moment in championing the rights and needs of individuals impacted by rare conditions.

Through collaborative efforts with healthcare providers, policymakers, and grassroots organisations, Malta has fostered a supportive ecosystem conducive to addressing the unique challenges posed by rare diseases.

Elevating awareness and support

As we commemorate Rare Disease Day, it’s imperative to recognise the resilience and strength shown by children and families confronting the realities of conditions like Leukodystrophy. The European Union’s steadfast commitment to advancing rare disease initiatives sets a precedent for global collaboration and solidarity. By fostering greater awareness, advocating for policy reforms, and prioritising research and innovation, we can collectively strive towards a future where every child, regardless of their medical condition, receives the support and care they deserve.

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