New Delhi:

 Observed globally on February 28 (or 29 in leap years) every year, the Rare Disease Day highlights globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

History & Significance

Rare Disease Day provides an energy that enables rare diseases advocacy work to progress on the local, national and international levels. Though Rare Disease Day is patient-led, everyone, including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policy makers, industry representatives and the general public, can participate in raising awareness and taking action for this vulnerable population who require urgent attention.

The first Rare Disease Day was observed on February 29, 2008. It was organized by the European Organization for Rare Diseases (EURORDIS).

Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse but united in purpose.

Examples Of Rare Diseases

Rare diseases are present across the medical spectrum. Some are widely recognized by name, such as cystic fibrosis, while others are less known, such as cat eye syndrome. There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems. Many rare diseases are named for the physicians who first identified them. A few are named for patients or even the hospitals where they were first identified.

Who Is Affected By Rare Diseases

Many rare diseases are genetic. Some are apparent at birth while others do not appear until much later in life. Rare diseases are an important public health concern.

There are about 7000 known rare diseases, affecting around 8 percent of the world’s population. 75 percent of rare disease patients happen to be children.

However, even though some of these new therapies are highly promising, they are prohibitively expensive and lifelong in many situations, placing immense strain on the resources of the affected families.

The last two decades have seen 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.

Government Of India Calling For Donations

The Government of India is committed to secure treatment for patients of rare diseases in the country. However, in view of the high cost of treatment, resource constraints and competing health priorities, it is difficult for the Government to fully finance these treatments.

National Policy for Rare Diseases

The Ministry of Health & Family Welfare launched the National Policy for Rare Diseases (NPRD) in March 2021. The rare diseases have been identified and categorized into three groups including disorders amenable to one-time curative treatment, diseases requiring long term/lifelong treatment with relatively lower cost of treatment and diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.

Other Initiatives By Govt Of India

The Ministry of Health and Family Welfare has obtained exemption from Department of Expenditure on Goods & Services Tax (GST) and Basic Customs Duty on drugs imported for Rare Diseases for individual use and through CoE.

As envisaged in the policy, the Department of Health Research has established the National Consortium for Research and Development on Therapeutics for Rare Diseases (NCRDTRD) for streamlining the research activities for rare diseases.

Currently, 63 rare diseases are included under National Policy for Rare Diseases on recommendation of the Central Technical Committee for Rare Diseases (CTCRD). Financial support of up to Rs 50 lakhs per patient is provided for the treatment at the notified Centres of Excellence (CoEs) for Rare Diseases. Since the launch of the policy, a total number of 1,118 patients have benefited under NPRD. Patients can approach any CoE across the country as per their convenience.

As many as 12 Centres of Excellence (CoEs) have been identified so far, which are premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases. In order to receive financial assistance for treatment of rare disease, the patient may approach nearby or any Centre of Excellence to get registered.

12 Centres Of Excellence

The Centres Of Excellence that have been treating rare disease include All India Institute of Medical Sciences, New Delhi; Maulana Azad Medical College, New Delhi; Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow; Post Graduate Institute of Medical Education and Research, Chandigarh; Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences, Hyderabad; King Edward Medical Hospital, Mumbai; Institute of Post-Graduate Medical Education and Research, Kolkata; Center for Human Genetics(CHG) with Indira Gandhi Hospital, Bengaluru; Institute of Child Health and Hospital for Children (ICH & HC), Chennai; All India Institute of Medical Sciences (AIIMS), Jodhpur; Sree Avittam Thirunal Hospital (SAT), Government Medical College, Thiruvananthapuram and All India Institute of Medical Sciences, Bhopal.

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