30% children with rare diseases die before their 5th birthday due to lack of treatment: Experts

Mumbai: Thirty per cent of children with rare diseases (RDs) die before reaching their 5th birthday because of lack of treatment, experts said.

The first-ever National Rare Disease Conference - “Cure & Care for the Rare” - brought together leading experts, researchers, and patients to discuss breakthroughs, challenges, and the future of rare disease care in India.

The two-day conference hosted by Bai Jerbai Wadia Hospital at Parel concluded on a high note, marking a crucial milestone in raising awareness and accelerating efforts for better treatment and support for those children affected by rare diseases.

“The WHO defines RDs as a condition that affects fewer than 65 people per 100,000 population size. Worldwide, more than 7000 types of RDs exist, of which 5,500 rare diseases are identified under ICD-11. 50-75 per cent are pediatric onset, and 80 per cent are due to genetic etiology. Other than genetics, include rare infections (bacterial or viral), rare allergic reactions, and rare cancers. 30% of children with RDs die before reaching their 5th birthday because of the lack of treatment. Treatment is only available for 5% of rare diseases. Early diagnosis and treatment can significantly reduce morbidity and mortality,” said Dr. BS Charan is currently working as an Assistant Director General (ADG) at Directorate General of Health Services, Ministry of Health & Family Welfare Government of India.

“This year’s theme is Cure & Care For The Rare. Wadia Hospital believes in the three Cs and can add one more C to it. The one more C stands for Compassion & Cure & Care For The Rare. Over the past four years, the hospital has delivered specialized treatment to more than 5,000 children affected by rare diseases. I want to highlight something that we want to do, which is much more, and Rare Disease comes as a part of that planning. And in that, I want to go in for the paediatric cancer hospital which will have a lot of bone marrow transplants and other rare diseases coming into it,” added Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital For Children.

“Rare diseases may be uncommon, but the need for action is urgent. This conference was not just about discussing scientific advancements but also about creating a community of care and support. The incredible participation and response have strengthened our resolve to continue working towards a better tomorrow for those living with rare diseases,” said Dr Sudha Rao, Medical Director and Organizing Chairperson of the 1st National Conference on Rare Diseases in Children.