Pediatric Rare Diseases: The

3. Accelerating Research and Innovation

Patient advocacy groups often collaborate with researchers and pharmaceutical companies to advance clinical trials. Patient registries—databases of individuals diagnosed with a specific rare disease—help scientists collect vital information that can guide treatment development. Organizations like the National Organization for Rare Disorders (NORD) and Global Genes have been instrumental in funding research and promoting collaboration between stakeholders (Global Genes, 2022).

4. Empowering Families and Patients

Parents of children with rare diseases often become their strongest advocates. Support networks and advocacy groups provide families with resources, connect them with specialists, and assist in securing financial aid. Peer-to-peer support systems help families navigate the emotional and practical challenges of raising a child with a rare disease (Pelentsov et al., 2016).

Case Study: Success in Pediatric Rare Disease Advocacy

A prime example of successful advocacy is the passage of the Orphan Drug Act (ODA) in 1983, which incentivized drug development for rare diseases. This law led to significant advancements, including the approval of more than 600 orphan drugs, many benefiting pediatric patients (U.S. Food & Drug Administration, 2020).

Another success story is spinal muscular atrophy (SMA) advocacy. Patient groups successfully lobbied for newborn screening programs and expedited drug approvals. Today, SMA patients have access to gene therapies that can significantly improve their quality of life (Cure SMA, 2021).