Pediatric Rare Diseases: The Opportunity for Advocacy to Transform Care

by Cheryl Petruk, MBA

Pediatric rare diseases represent one of the most pressing yet underserved challenges in modern medicine. Affecting an estimated 30 million children worldwide, these conditions often go undiagnosed or misdiagnosed for years, delaying crucial interventions. Advocacy plays a critical role in improving outcomes for children with rare diseases by raising awareness, influencing policy, and fostering research advancements. By strengthening advocacy efforts, we can enhance diagnosis, treatment, and overall quality of life for pediatric patients and their families.

The Unique Challenges of Pediatric Rare Diseases

Unlike common childhood illnesses, rare diseases frequently lack robust clinical guidelines and established treatment protocols. Some key challenges include:

Delayed Diagnosis – Many rare diseases have nonspecific symptoms, making early diagnosis difficult. On average, it takes five to seven years for a patient with a rare disease to receive an accurate diagnosis, a period known as the ‘diagnostic odyssey.’ This delay can lead to disease progression and missed treatment opportunities (Shah et al., 2019).

1. Limited Treatment Options – Pharmaceutical companies often overlook rare diseases due to the small market size, leading to a lack of targeted therapies. While orphan drug incentives have increased investment, many pediatric conditions remain without approved treatments (U.S. Food & Drug Administration, 2020).

2. Burden on Families – Caring for a child with a rare disease often involves navigating a complex medical system, coordinating with multiple specialists, and shouldering significant financial and emotional burdens. Families must advocate for their child's care, education, and accessibility needs (Pelentsov et al., 2016).

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).

The Future of Pediatric Rare Disease Advocacy

The landscape of rare disease advocacy is evolving, with several promising developments:

Gene and Cell Therapies – Advancements in gene editing technologies, such as CRISPR, offer hope for treating previously untreatable rare diseases (National Institutes of Health, 2023).

Artificial Intelligence (AI) in Diagnosis – AIdriven tools are helping shorten the diagnostic odyssey by identifying rare diseases earlier through medical imaging and genetic analysis (Shah et al., 2022).

Global Collaboration – International partnerships between advocacy groups, research institutions, and policymakers are expanding access to treatments and improving patient outcomes (EURORDIS, 2023).

Pediatric rare disease advocacy is a vital force in ensuring that children with rare conditions receive timely diagnosis, effective treatment, and comprehensive support. By raising awareness, driving policy changes, fostering research, and empowering families, advocacy can transform the future for these vulnerable patients. Continued collaboration among patient organizations, researchers, healthcare providers, and policymakers is essential to create a world where no child is left behind due to a rare disease.

Every voice in advocacy matters—whether you are a parent, healthcare professional, researcher, or policymaker, your efforts can contribute to a brighter future for children with rare diseases. Now is the time to act, advocate, and advance progress in pediatric rare disease care.