Dr Atul Mohan Kochhar, CEO, NABH highlights that he last two decades have seen the emergence of new therapies for a few rare disorders which previously had no hope of survival. By using innovative techniques and advanced scientific technology, researchers have developed novel drugs which are showing miraculous results. Yet by actively involving patients in their care, research, and advocacy efforts, we can unlock a new era of hope and progress in rare disease management
For individuals living with rare diseases, the journey is often fraught with isolation, frustration, and limited treatment options. A significant public health challenge in India is the presence of around 450 rare diseases, impacting a substantial portion of the pediatric population. These debilitating conditions, affecting less than one in every thousand individuals, are estimated to contribute to 50 per cent of new cases in children, tragically responsible for 35 per cent of deaths before the age of one. This burden continues through childhood, with 10 per cent and 12 per cent of fatalities occurring between the ages of one to five and five to fifteen, respectively. Common examples include Haemophilia, Thalassemia, and Muscular Dystrophies, highlighting the diverse nature of these illnesses.
As defined by the World Health Organization, these rare diseases often present lifelong challenges, demanding ongoing medical attention and support. If we look at the global statistics, there are approximately 72 to 96 million individuals grappling with the complexities of rare diseases. Less than 1 in 2,000 people have these disorders, which are marked by rare symptom presentations, delayed diagnosis, and few available treatments. There are about 7000 known rare diseases, affecting around 8 per cent of the world’s population. 75 per cent of rare disease patients happen to be children. They frequently remain hidden. But as the healthcare industry is shifting their focus towards patient engagement and understanding the vitality of, the difficult situation can be navigated in a more effective manner.
Understanding the battle beyond statistics: The human impact
Behind the numbers are the individuals and families whose lives are profoundly affected by rare diseases. Imagine a child adjusting to the physical restrictions of muscular dystrophy, a young woman struggling with the psychological impacts of Fabry disease, or a family having to pay for specialised medical care. There can be extreme emotional, physical, and financial stress, which highlights how important it is to have large support systems.
Symptoms: Recognising the unfamiliar
Recognising rare diseases can be difficult due to their diversity. The absence of specificity, vagueness or mimicry of more frequent illnesses in the symptoms can cause delays in diagnosis, sometimes taking years. The prognosis and availability of prompt treatment may suffer greatly from this postponement. India initiated The Genome India Project in 2020 to collect 10,000 genetic samples from citizens across India, to build a reference genome.
Government initiatives: Fostering hope
The Indian government has improved the lives of those affected by rare diseases by implementing several initiatives in recognition of the difficulties they encounter. The framework for research, diagnosis, treatment, and awareness was developed under the National Policy for Rare Diseases 2021. Furthermore, programmes such as the Rashtriya Arogya Nidhi (RAN), Ayushman Bharat & Jan Aushadhi Scheme in India offer medical funding, providing a ray of hope for economically challenged families.
Active patient engagement: A way forward
The last two decades have seen the emergence of new therapies for a few rare disorders which previously had no hope of survival. By using innovative techniques and advanced scientific technology, researchers have developed novel drugs which are showing miraculous results. Yet by actively involving patients in their care, research, and advocacy efforts, we can unlock a new era of hope and progress in rare disease management. This not only empowers patients to take control of their health but also fuels groundbreaking research and fosters supportive communities, ultimately paving the way for improved outcomes and a brighter future for all those affected by these complex conditions.
The power of patient engagement
However, government initiatives alone cannot bridge the gap. This is where patient engagement emerges as a critical force. By empowering patients and their families to actively participate in their care, a collaborative symphony can be created. This involves:
- Equipped with information and insight, patients can collaborate with medical providers to make well-informed choices regarding their course of care.
- Patient advocacy groups are essential in increasing public awareness, influencing legislative changes, and obtaining financial support for support services and research.
- Making connections with people going through comparable struggles offers both practical and emotional assistance, creating a feeling of acceptance and lowering stigma.
Technology: Strengthening the melody:
Technology can be an effective tool for patient engagement in the digital age. Patients can receive specialist care closer to home thanks to telemedicine consultations, online support groups provide a virtual safe space for communication and sharing, and educational platforms empower people with information.
The Road Ahead: A collective responsibility:
A unified front is necessary to navigate the terrain of uncommon diseases in India. To create a complete and more cooperative ecosystem, healthcare providers, legislators, researchers, families, and most significantly, patients themselves, must work together. We can make a huge difference in the lives of millions of Indians who suffer from rare diseases by elevating the voices of patients, funding research, and guaranteeing fair access to diagnosis, care, and assistance.
Never forget that each person who suffers from a rare illness has a special tale to share. We can build a more optimistic and welcoming future for everybody if we pay attention to their voices and include them as active partners in their care.
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