The Tribune Interview | Need to dispel myths about rare diseases: Dr Inusha Panigarhi, Prof at PGI
What is the significance of World Rare Disease Day?
World Rare Disease Day 2025 aims to raise awareness about the challenges faced by rare disease patients. It highlights policy gaps and pushes for improved healthcare access and funding. By engaging policymakers, healthcare professionals and patient groups, media ensures that rare diseases remain a national healthcare priority.
What are some misconceptions about rare diseases and how can media help?
Many people wrongly believe rare diseases are contagious or caused by poor lifestyle choices. The media can dispel these myths by sharing accurate information, patient stories, and expert insights. With timely and sustainable therapy, rare disease patients can lead near-normal lives.
How can educational institutions and healthcare professionals collaborate to create awareness?
Incorporating rare diseases into medical curricula can train future healthcare professionals. Institutions can organize awareness programs, workshops, and research initiatives to improve diagnosis and treatment. Collaborative events such as symposiums and patient interaction programmes foster empathy and practical knowledge.
What efforts are being made to improve access to medicines for rare disease?
The National Policy for Rare Diseases 2021 (NPRD) provides financial aid of up to ?50 lakh per eligible patient. This policy facilitates treatment and diagnosis for families affected by rare diseases.
How have Centers of Excellence (COEs) helped in diagnosis and treatment?
India has 13 designated COEs across 12 states established by the Ministry of Health and Family Welfare. These centers enhance access to diagnosis and treatment while also conducting research and clinical trials.
What impact has National Rare Disease Policy 2021 had and what gaps remain?
The NPRD 2021 has provided much-needed financial support and facilitated early testing. However, gaps remain in sustainable infrastructure, long-term funding, and ensuring equitable treatment access.
Can you share an inspiring patient story?
A 14-year-old boy diagnosed with Pompe disease, an ultra-rare lysosomal storage disorder, exemplifies resilience. Diagnosed at six months with cardiomyopathy, enzyme testing confirmed the condition. He began Enzyme Replacement Therapy (ERT), initially on compassionate grounds. Now mobile at 14, though still showing cardiac hypertrophy, his quality of life has significantly improved.
What are the biggest challenges rare disease patients and their families face?
Economic and geographical limitations restrict access to COEs. Additionally, emotional and social stigma leads to isolation and reduced support. Families exhibit remarkable resilience while navigating financial, social, and emotional hardships but advocacy and community support are essential in ensuring better outcomes for patients.
What steps can be taken to ensure early diagnosis and better management?
The NPRD framework is a significant step forward, but further improvements are necessary. Strengthening infrastructure and providing sustainable financial aid will enhance support for patients. Ensuring early diagnosis and timely treatment remain the most effective ways to minimise the adverse impact.
