By Dr Vani H N
Many of our health-related conversations revolve around more prevalent diseases that affect several of our acquaintances. However, for each of the few disorders that concern us, there are many that occur rarely but have dreadful consequences for the patients and their families.
The most popular definition of a rare disease is having one instance per 10,000 persons. The term orphan is appropriate for several reasons. Because of its rarity, it is difficult to diagnose because many young healthcare professionals may not have even seen a single case. For the same reason, not enough research has been done in this area, so there is no treatment.
However, rare diseases, though individually rare, collectively affect a substantial number of individuals worldwide. These diseases often present unique challenges that go unnoticed. According to the Indian Council of Medical Research (ICMR) in 2022, around 95,600 children below the age of 14 years in India suffer from type 1 diabetes. In India, where healthcare disparities are stark, the battle against rare diseases hinges on four key pillars: Affordability, Availability, Awareness, and Accessibility—the 4As that can make a significant difference in patients’ lives.
Limited Awareness Hinders Early Diagnosis
One of the primary hurdles in combating rare diseases is the lack of awareness, both among the public and healthcare professionals. This leads to delayed or missed diagnoses, exacerbating the impact of these diseases. Early diagnosis is crucial for effective treatment, yet many rare diseases go undetected or misdiagnosed for years. This delay not only worsens the prognosis but also adds to the financial burden on patients and their families.
Affordability: Overcoming Financial Barriers to Treatment
Even when diagnosed, the battle is far from over. Making essential drugs readily available and affordable for patients with rare diseases remains a significant concern. Despite financial assistance schemes, the limited production and high research costs associated with these treatments often result in exorbitant prices, especially from an Indian viewpoint, posing affordability challenges for the patients. Addressing this issue necessitates a comprehensive approach, including governmental support, incentivizing research and development, and fostering international collaborations to improve the affordability of essential drugs for patients with rare diseases. The Government has launched National Policy for Rare Diseases (NPRD), 2021 in March, 2021 for the treatment of rare disease patients. Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of the Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogaya Nidhi.
Availability and Accessibility: Establishing Dedicated Healthcare Facilities
To address these challenges, there is a pressing need to establish dedicated healthcare facilities across the country. These facilities should be equipped not only to diagnose but also to effectively manage rare diseases. This includes having the infrastructure for specialized treatments and therapies that can vastly improve patients’ quality of life, like the provision of specialized treatments such as enzyme replacement therapy should not just be restricted to a few centers.
Globally, it is estimated that approximately 250 new rare diseases (RDs) are added to the 7000 rare diseases known to exist each year. About 80% of rare diseases have identified genetic causes and 50% of RD’s occur in children. According to an estimate, India has 70 million cases of rare diseases. Furthermore, certain rare diseases such as Primary Immune Deficiency Disorders (PID), Lysosomal Storage Disorders (LSDs), Mucopolysaccharidoses (MPS), Spinal Muscular Atrophy (SMA), Pompe disease, and Gaucher Disease are among the more prevalent rare diseases in India.
Battling rare diseases requires a multi-faceted approach that addresses affordability, availability, awareness, and accessibility.
By strengthening healthcare infrastructure, raising public awareness, and ensuring that treatments are within reach, we can make significant strides in improving the lives of those affected by these often overlooked conditions. It is a collective responsibility of society, healthcare providers, and policymakers to champion the cause of rare disease patients and ensure they receive the care and support they deserve.
(The author is MBBS, MD (Pediatric), Fellowship (Pediatric and Adolescent Endocrinology), Associate Professor, Indira Gandhi Institute of Child Health, Bangalore. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the FinancialExpress.com.)
