Bai Jerbai Wadia Hospital For Children To Host First-Ever National Conference on Rare Disease

*On the note of Rare Disease Day, 28th February 2025 :*  

~According to WHO, rare diseases affect 65 children per 1,00,000, with India carrying 25% of the global burden. In India, 1 to 5 in 10,000 children suffer from rare diseases, many not surviving into adulthood

~The conference aims to present clinical excellence to the medical fraternity and highlight the challenges in rare disease treatment and government policies

 *Mumbai:* Given the rising incidence of rare diseases in children, Bai Jerbai Wadia Hospital for Children has taken the first step forward in spreading awareness by hosting the 1st National Conference on Rare Diseases in Children on 1st and 2nd March 2025. The objective is to highlight the importance of early diagnosis, genetic advancements, and multi-disciplinary approaches in the management of rare diseases in children and the challenges faced by parents as well as hospitals. With hundreds of doctors, consultants, and paramedics participating, the event will serve as a key platform to discuss solutions and advancements in rare diseases to ‘Cure And Care For The Rare’.

The conference will feature engaging 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. Bachh Ke Rehna Re ‘Baba’, The role of fetal medicine in early detection and prevention. Kar Har Maidan Fateh – A road map to transplant unveiling the rare in neonatal care: from diagnosis to management. Hum Saath Saath Hain – A parent support group session to improve awareness share experiences and strengthen community engagement.

Experts will lead insightful sessions on topics such as Rare Metabolic & Genetic Disorders in Children, and Inborn Errors of Immunity during the two-day conference. Panel discussions and scientific programs will also be conducted by renowned experts. More than 500 participants from India, Nepal, Oman, Muscat,  other Asian countries, and the UK  will be a part of this conference.

 Rare diseases in children encompass a wide range of genetic, metabolic, and immune disorders, presenting with signs and symptoms such as developmental delays, organ dysfunction, or failure to thrive. Neurological disorders like Duchenne Muscular Dystrophy (DMD), Gaucher Disease, a metabolic disorder affecting the liver, spleen, and bones of the child, whereas, Spinal Muscular Atrophy (SMA) leading to mobility issues, Pompe disease, and Cystic Fibrosis are some common diseases seen. Rare diseases are complex and often challenging to diagnose.

Bai Jerbai Wadia Hospital For Children, a nearly a century-old pioneer in pediatric healthcare, has taken the lead in organizing the 1st National Conference on Rare Diseases to encourage diagnosis and treatment for successful outcomes.

 *Dr. Sudha Rao, Medical Director and Organizing Chairperson* of the 1st National Conference on Rare Diseases in Children, emphasized the urgent need for early intervention and accessible treatment for rare diseases in India. “According to the World Health Organization (WHO), a rare disease affects approximately 65 children per 1,00,000 population, while  India carries 25% of the global rare disease burden. In India, 1 to 5 out of every 10,000 children suffer from rare diseases, many of whom do not survive into the second decade. Most rare diseases have genetic, metabolic, and immunological origins, often leading to neurological affection and multiple organ involvement. Addressing these conditions requires a collaborative approach, bringing together experts from across the country. Likewise, support networks for patients and families facing these challenges are crucial to improving care and outcomes. At Wadia, efforts are made to educate and support families by forming dedicated support groups and guiding parents on disease management. To prevent rare diseases, fetal diagnosis plays a crucial role in detecting conditions before birth.”

 *Dr. Pradnya Bendre, Prof. & Head, Department Pediatric Surgery said,* “There is a lack of awareness about rare diseases among both the masses and medical professionals. With over 7,000 rare diseases worldwide, new diseases continue to be identified as medical knowledge advances. However many diseases remain unknown. Genetic testing and understanding of these diseases remain limited, making early diagnosis challenging. Wadia Hospital provides genetic testing and initiates early treatment for children suspected of having rare diseases. One such condition is Duchenne Muscular Dystrophy (DMD), a progressive muscular disorder where children have normal cognitive function but gradually lose muscle strength. Over time, simple activities like walking, sitting, and dressing become difficult, eventually leading to complete immobility. Since many rare diseases are genetic, addressing them at the root is essential. However, some treatments are so complex and costly that families struggle to cope. Limited awareness, lack of specialized testing, and delayed intervention further are the challenges in timely treatment. Better screening, multidisciplinary care, and increased awareness are key to improving rare disease management, as each condition requires a unique approach to diagnosis and treatment.”

Managing rare diseases requires a multidisciplinary approach and specialized expertise. However, patients and their families continue to face significant challenges due to financial constraints and policy limitations. Through our 1st t National Conference on Rare Diseases, we aim to showcase our clinical excellence, raise awareness about these challenges, and encourage collaborative discussions on strengthening support systems and frameworks for rare disease care in India. This 1st National Conference on Rare Diseases in Children will be an eye-opener, bringing together experts and policymakers to work towards a sustainable future in rare disease management and save innocent lives. Wadia Hospital continues to advocate for early screening programs and advanced medical interventions to better handle the complexities associated with rare diseases.”

*Dr. Minnie Bodhanwala, CEO of Wadia Hospital, said,* "As one of the oldest and most renowned pediatric hospitals in Asia, Wadia Hospital has been a center of excellence for neonatal and pediatric critical care, housing the largest NICU and PICU facilities. Over the past four years, the hospital has delivered specialized treatment to more than 5,000 children affected by rare diseases.  The Maharashtra state government recently honored the hospital with the designation of Centre of Excellence – Child Health. We regularly receive referrals for pediatric patients with rare diseases and are committed to establishing ourselves as a Center of Excellence for Rare Diseases in India.  To further enhance treatment accessibility, the hospital has applied for Centre of Excellence – Rare Diseases status from the Union Government, seeking central funding to support children in need. Under the National Policy for Rare Diseases (NPRD) 2021, patients can receive one-time financial aid of up to ₹50 lakh for treatment at designated Centers of Excellence (CoEs). Additionally, the policy, in collaboration with Ayushman Bharat, ensures coverage for eligible rare diseases under the scheme.”