Marking Rare Disease Day: A Landmark Initiative
On the occasion of Rare Disease Day, observed on February 28, 2025, Bai Jerbai Wadia Hospital for Children is taking a significant step forward in spreading awareness. The hospital will host the 1st National Conference on Rare Diseases in Children on March 1-2, 2025. This conference will highlight the importance of early diagnosis and genetic advancements. It will also focus on a multi-disciplinary approach to managing rare diseases in children. It will also highlight the challenges faced by parents and hospitals in treating these conditions.
Understanding India’s Rare Disease Burden
According to the World Health Organization (WHO), rare diseases affect 65 children per 100,000, with India carrying 25% of the global burden. In the country, 1 to 5 per 10,000 children suffer from rare diseases, and many do not survive into adulthood. Recognizing this urgent issue, Bai Jerbai Wadia Hospital has brought together hundreds of medical professionals, consultants, and paramedics for this national-level conference to explore solutions and advancements in rare disease management under the theme “Cure and Care for the Rare.”
Engaging Workshops and Insightful Sessions
The conference will feature dynamic workshops such as Unboxing Rare Disease – Kissa Genes Ka, Optimizing the Role of Genetics in Rare Disease Care, and Dastane Disorders – A Case-Based Clinical Approach to Common ‘Rare’ Disorders. Other key sessions include Bachh Ke Rehna Re ‘Baba’, which explores the role of fetal medicine in early detection, and Kar Har Maidan Fateh, a roadmap to transplants and neonatal care management. Hum Saath Saath Hain, a dedicated parent support group session, aims to foster awareness, share experiences, and strengthen community engagement.
Renowned experts will also discuss Rare Metabolic & Genetic Disorders in Children and Inborn Errors of Immunity, alongside panel discussions and scientific programs. Over 500 participants from India, Nepal, Oman, Muscat, and other Asian and European countries will attend, making this a truly global initiative.
Common Rare Diseases in Children
Rare diseases in children include a range of genetic, metabolic, and immune disorders, often leading to developmental delays, organ dysfunction, or failure to thrive. Some common rare diseases include:
- Duchenne Muscular Dystrophy (DMD): A progressive muscular disorder affecting mobility.
- Gaucher Disease: A metabolic disorder impacting the liver, spleen, and bones.
- Spinal Muscular Atrophy (SMA): A condition causing severe mobility issues.
- Pompe Disease & Cystic Fibrosis: Both affecting multiple organs and requiring early intervention. These diseases are complex and challenging to diagnose, making awareness and early intervention critical.
Expert Perspectives on Rare Disease Challenges
Dr. Sudha Rao, Medical Director and Organizing Chairperson, stressed the urgent need for early intervention and accessible treatment for rare diseases. She stated, “India carries 25% of the global rare disease burden, with many children not surviving beyond their teenage years. Addressing these conditions requires collaboration among experts nationwide and establishing strong patient and family support networks. Fetal diagnosis is also crucial for early detection and management.”
Dr. Pradnya Bendre, Professor & Head, Department of Pediatric Surgery, highlighted the lack of awareness about rare diseases among both the general public and medical professionals. She noted, “With over 7,000 rare diseases worldwide, many remain unidentified. Limited genetic testing and early diagnosis capabilities pose a significant challenge. Wadia Hospital actively provides genetic testing and early treatment for children suspected of having rare diseases. Awareness, multidisciplinary care, and early intervention are key to better patient outcomes.”
Strengthening Rare Disease Care in India
Managing rare diseases requires a multidisciplinary approach and specialized expertise. However, financial constraints and policy limitations create significant treatment challenges. This conference aims to showcase clinical excellence and raise awareness of key challenges. It also fosters collaborative discussions to strengthen rare disease care in India.
Dr. Minnie Bodhanwala, CEO of Wadia Hospital, emphasized the hospital’s commitment to advancing pediatric healthcare. She stated, “Wadia Hospital, one of Asia’s leading pediatric institutions, has treated over 5,000 children with rare diseases in the past four years. Recognized by the Maharashtra state government as a Centre of Excellence – Child Health, the hospital has also applied for Centre of Excellence – Rare Diseases status under the Union Government. Under the National Policy for Rare Diseases (NPRD) 2021, eligible patients can receive financial aid of up to ₹50 lakh for treatment at designated Centers of Excellence (CoEs), ensuring accessibility to critical care.”
According to the press release, this groundbreaking conference aims to drive policy changes and improve screening programs. Wadia Hospital also advocates for better medical interventions to enhance outcomes for children with rare diseases across India.