Andorran Rare Disease Advocate Calls Them 'Invisible', Demands National Registry

Meritxell Benito, president of the Andorran Association for Rare Diseases (AMMA), has described such conditions not as rare but as "invisible," urging greater visibility to drive policy changes and support for affected families.

Rare diseases impact fewer than five people per 10,000 residents, yet collectively they burden numerous households across Andorra. Their social invisibility often translates to limited resources, creating disparities in diagnosis, treatment, and access to specialists. AMMA addresses this through networking, emotional support, shared experiences, and community gatherings to ensure no one feels isolated.

Benito's primary demand is a national registry of rare diseases. "Without real data, it's very difficult to build fair and tailored healthcare policies that meet families' actual needs," she said.

Benito speaks from personal experience. She was diagnosed with Charcot-Marie-Tooth disease, a neuromuscular disorder primarily affecting strength and sensation in the limbs, requiring constant physical and emotional adaptations. The journey to diagnosis was lengthy, marked by uncertainty and emotional strain—a common ordeal for families, many of whom search for years without answers.

Relief came with the diagnosis, but it ushered in ongoing adaptation and a sense of grief. The most challenging moment, she recounted, was when a doctor acknowledged medicine's limits, admitting a lack of information on disease progression. Moments of hope, however, arise from connecting with other families and witnessing scientific advances in research.

The condition also affects her sister and daughter, imposing a heavy emotional load on the family. Yet it has reshaped their perspective, fostering resilience amid uncertainty. "It's not madness, it's love," Benito said of parents' determination. "When it comes to your children, you discover an unexpected strength."