'Rare Diseases Are Turning Silent Epidemic,' Say Health Experts; Call For Urgent Measures To Tackle Issue

Mumbai: Health experts have called for urgent measures to address the increasing burden of rare diseases. Calling it a “silent epidemic”, they said nearly 450 rare diseases have cast a shadow on especially the paediatric population.

World Health Organisation defines a rare disease as an “often debilitating lifelong disease or disorder with a prevalence of one or less per 1000 population”. Nations have their own definitions to suit specific requirements and their population, health care system and resources.

Details On Rare Diseases

The National Institutes of Health (NIH) – the primary agency for biomedical and public health research in the US – has reported over 7,000 rare diseases. More than 250 are identified and listed under the Organisation of Rare Diseases in India, covering newborn screening panels. Nearly one in 20 Indians, totalling around 70 million, are impacted by one of these rare conditions, while 50% of rare diseases are birth disorders. Hence, early diagnosis is a critical challenge in their management.

An expert said, “Rare diseases among newborns often go undetected, as they may not present physical symptoms initially. Instead, they may relate to hormonal or metabolic disorders. This integral challenge highlights the importance of the newborn screening test in identifying such conditions early on before they become apparent clinically.”

Rare Diseases Account Nearly 35% Of Children Deaths

Atul Mohan Kochhar, the CEO of National Accreditation Board for Hospitals and Healthcare Providers (NABH), has underscored the urgency unveiling the grim reality, where rare diseases account for a staggering 35% of deaths occurring before the age of one, and an additional 10% and 12% of fatalities occur in children aged one to five and five to 15, respectively. The toll is devastating, with each statistic representing a human tragedy that demands urgent attention.

“The complexities of rare diseases involve addressing diagnostic hurdles, limited research, and the need for specialized treatments, creating a labyrinth of challenges for both patients and healthcare professionals. However, the broad spectrum of symptoms, combined with prolonged diagnostic delays, intensifies the distress experienced by patients and their families,” Kochhar said.

However, some hope emerged with initiatives like The Genome India Project, poised to revolutionize diagnostic capabilities and provide a beacon of hope for those in need. Meanwhile the Initiatives undertaken by the central government such as the National Policy for Rare Diseases 2021 and flagship programmes like the Rashtriya Arogya Nidhi (RAN) and Ayushman Bharat offer a lifeline to economically disadvantaged families. Moreover, patient engagement programmes will play a pivotal role in addressing RDs.

“These initiatives serve as catalysts for empowerment, advocacy, and collaboration. Patient engagement enables individuals and families to actively participate in their care, make informed decisions, and advocate for their needs within the healthcare system,” Dr Kochhar explained.