Amitabh Jain, Chief Operating Officer, Star Health and Allied Insurance
Just as a leap year occurs once every four years, rare diseases (Ex: Hemophilia, Lupus, Marfan syndrome etc.) affect only a small fraction of the population. Yet, their effect is immense. Acknowledging the plight of patients, Rare Disease Day is celebrated on the last day of February every year to spread awareness and push for improved care and treatment.
Over 300 million (Source) individuals worldwide suffer from rare diseases, more than 7,000 (Source) types of which exist, and the majority are poorly characterized and don’t have cost-effective and quality treatment options available. An estimated 70 million Indians have rare diseases, though low awareness levels, expensive diagnosis, and lack of healthcare facilities are serious drawbacks. The Indian Council of Medical Research (ICMR) National Registry for Rare and other Inherited disorders (NRROID) was initiated in November 2019 in collaboration with AIIMS, New Delhi, to collect useful data on demography, phenotype, natural history, evolution, and outcomes of specific diseases with/ without treatment. As of the latest update, the registry has recorded 16,034 cases, with specific disorders such as Thalassemia (4,022 cases) and Neuromuscular Disorders (6,458 cases) being notably prevalent (Source). The Indian Council of Medical Research (ICMR) has recognized 4,001 rare diseases, but a mere 450 (Source) have been formally documented in tertiary care hospitals, and that points towards a significant deficit in diagnosis and data collection. Though 80% of the rare diseases are genetic in origin, the remaining ones are caused by infections, autoimmune conditions, or environmental factors. Since more than 50% of rare disease conditions occur in children, early diagnosis is important.
Rare diseases require specialized treatments, lifelong management, and in some cases, even experimental treatments—hence, appropriate insurance coverage. 72% of rare diseases have a genetic aetiology, but others are due to infections, allergies, or environmental causes. While most rare diseases are not curable, early detection and proper management can greatly improve the quality of the patient’s life.
With 50% of rare diseases occurring in children, early treatment is essential. Patients often experience significant delays in diagnosis. At times, patients wait for years for a proper medical examination. Rare Disease Day serves as a reminder to promote research, improve healthcare access, and support individuals battling these conditions.
What is Regular Health Insurance?
Comprehensive health insurance is meant to cover hospitalization charges, doctor consultations, diagnostic procedures, and pre and post-hospitalization expenses. The policies are reimbursement or cashless, with the insurance company settling the bill with the hospital to the extent of the sum insured.
For patients with neurological rare diseases such as Huntington’s disease or Rett syndrome, comprehensive health insurance can cover hospitalization and supportive care. For metabolic disorder patients like Gaucher disease or Fabry disease, enzyme replacement therapy and long-term care can be covered. But not all treatments—particularly for rare diseases—are covered under normal policies, and out-of-pocket costs are high.
What is a Critical Illness Plan?
A critical illness (CI) plan varies in structure from typical health insurance. Instead of paying for the cost of hospitalization, it disburses a lump sum at the time of a covered disease’s diagnosis. The sum can be used as per the desire of the policyholder—to settle medical expenses, loss of earnings, or even alternate therapy.
For individuals with autoimmune and inflammatory rare diseases like Lupus or Scleroderma, a CI plan may offer financial relief. But CI plans generally pay for a predetermined category of disease, excluding a majority of rare diseases. If a rare disease is excluded from coverage, the policyholder does not receive financial relief, which makes CI plans less reliable for those with uncommon diagnoses.
Differences in coverage: Which Works Better with Rare Diseases?
For rare diseases, basic health insurance pays for hospitalization and immediate medical costs. It pays for doctor visits, intensive care unit admission, and necessary procedures. It does not pay for indirect costs like loss of income, home modification, or long-term nursing care.
A critical illness policy, on the other hand, pays a lump sum that can be spent as one desires, but this coverage is only available if the disease is included in the policy. Since most CI policies do not pay for most rare diseases, they cannot be the only source of financial protection. For individuals with rare conditions, a combination of high-coverage basic health insurance and a critical illness policy can provide a better financial safety net.
Financial Plan for Uncommon Diseases
For high-risk individuals with rare diseases, the best approach is to have both types of insurance for overall security. A high-coverage normal health insurance policy can cover hospital and medical costs, while a critical illness policy (if available) can provide financial support for non-medical costs.
Additionally, one should consider top-up plans, disease-specific policies, and personal savings to fill coverage gaps. Since rare diseases are chronic, choosing an insurance that covers advanced therapies, gene therapy, and specialty drugs.