Context

The World Rare Disease Day takes place worldwide on the last day of February every year. The day aims to improve knowledge amongst the general public of rare diseases while encouraging researchers and decision-makers to address the needs of those living with rare diseases.

Background

• Each rare disease may only affect a handful of people, scattered around the world, but taken together the number of people directly affected is equivalent to the population of the world’s third-largest country.
• New diseases are discovered each year and added to the databases such as  Orphanet database maintained by the European Union.
• There is no universal definition of rare disease but the importance of having a consistent definition across each country is well acknowledged.

The WHO defines rare disease as a debilitating lifelong disease or disorder condition with a prevalence of 1 or less per 1000 population. United States: In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. European Union: In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people.

• Having and adopting a standard definition of rare disease is a pre-requisite for public policy development.
• Due to lack of definition and more importantly, due to lack of diagnostic infrastructure and systematic data collection systems in India, the country does not yet have accurate statistics on the incidence or prevalence of rare diseases.
• About 80% of all rare diseases are genetic in origin, most of them monogenic. Half of the rare diseases are early-onset childhood diseases.
• Rough conservative estimates indicate over 70 million people in India are affected by rare diseases many of whom may still not have a diagnosis.

Key-figures Over 350 million people are living with one or more of over 7,000 identified rare diseases around the world. Rare diseases currently affect 3.5% - 5.9% of the worldwide population. 72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies, and environmental causes, or are degenerative and proliferative. 70% of those genetic rare diseases start in childhood.

Analysis

What are rare diseases?

• Rare diseases, as the name suggests, are health conditions that have a very low prevalence.
• Any disease that affects a small percentage of the population is a rare disease.
• In many parts of the world, they also go by the term 'orphan disease’, for the lack of a market large enough to capture the support and resources needed to develop treatments for them.
• Most rare diseases are genetic, and present throughout a person's lifetime, even if symptoms do not immediately appear.
• Many rare diseases appear early on in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.
• At first glance, it might seem to be a marginal issue that affects a handful of people, but there are more than 7,000 diagnosed rare diseases in the world and over 350 million individuals suffer from them, with nearly one-fifth in India.

Rare Disease Day Rare Disease Day was first celebrated in 2008 on 29th February, a Leap day that comes once in four years. Since then, the occasion has been observed on the last day of February, a month with fewer days than others, to build awareness. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

What causes rare diseases?

• There are many different causes of rare diseases. The majority are thought to be genetic, directly caused by changes in genes or chromosomes.
  • Hereditary: In some cases, genetic changes that cause disease are passed from one generation to the next.
  • Acquired: In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited.

While researchers are learning more each year, the exact cause of many rare diseases is still unknown.

What are the most common rare diseases?

• Hemangiomas (blood vessels forming a birthmark)
• lupus (an inflammatory disease)
• cystic fibrosis (a genetic disorder affecting lungs and the digestive system)
• Hirschsprung disease (blockage of the large intestine)
• muscular dystrophies (progressive weakness and degeneration of the muscles)
• Other common rare disease includes sickle cell anaemia, primary immunodeficiency in children, autoimmune disease.
• About 80% of all rare diseases are genetic in origin, most of them monogenic. 

Where does India stand in terms of its efforts?

• With its sizeable population, India has an increased frequency of rare diseases when compared to the rest of the world.
• In January this year, the Delhi High Court directed the Union Government to finalize and operationalize the new National Health Policy for Rare Diseases by 31 March 2021.

National Policy for Rare Diseases 2020 The Ministry of Health and Family Welfare had published a draft of the National Policy for Rare Diseases 2020 for stakeholder inputs, after the Delhi High Court judgments on cases filed by families of rare disease patients in 2016. The policy embraces a minimalist approach and maintains that healthcare is a State subject. Parallel to the preparation of the draft policy, the Indian Council of Medical Research (ICMR) announced the launch of a national registry, which aimed to cover a set of rare and ultra-rare disorders that are prevalent in India, in 2017. The process of nation-wide data collection is yet to take off and there is little publicly available data to inform decision-making.

Where does India lack?

• India does not have a definition for rare diseases. 
• Rare diseases are not covered under the Rights of Persons with Disabilities Act.
• There is no law that recognizes medical disability, depriving patients of all facilities and benefits. 
• This year’s budget made no new allocation for such a plan.
• Only 450 of the 8,000 known rare diseases in the world are recognized in India, an anomaly that underscores a mounting health crisis in which many patients go without being diagnosed accurately or treated on time.

Measures were taken by foreign countries

• The Orphan Drugs Act(ODA) of 1983 in the United States marked the most significant milestone in shaping rare disease policies around the world.
  • ODA offers significant tax and other incentives to companies investing in the research and development of treatments for rare diseases.
• Several European countries, Japan and others have adopted policies over the last 35 years - but the adoption has been far and few in some of the most populous countries such as China and India.

Challenges/Issues

• The main challenges include:
• lack of awareness among the medical fraternity
• lack of dedicated healthcare policies, schemes, and diagnostic facilities
• absence of counseling or even just a database of rare diseases
• Lack of efforts: Despite the large number of patients suffering from rare diseases, efforts to properly diagnose and treat these conditions have been lagging.
• Limited help: Due to the low prevalence of individual diseases, medical expertise is rare, knowledge is scarce, care offerings inadequate, and research limited.
• Denied treatment: Despite the large overall estimate, patients with a rare disease are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research.
• Expensive treatments: The unavailability and high cost of treatment remain one of the biggest obstacles. 

What measures are required?

• Sufficient information regarding the disease: Currently, both the public and policy-makers are in need of more information regarding rare diseases, only then can plans be put in place to move forward in providing adequate treatment and support for the millions affected by these conditions.
• Effective policy formulation: The Union government needs to craft a stronger, more holistic and empathetic policy, along with clear direction and support to State Governments, to improve the quality of life for rare disease patients and reduce their medical costs.
• Collaborative approach: A multi-stakeholder consensus, across sectors, regions, and political affiliations needs to emerge to tackle this invisible yet urgent public health concern.

Conclusion

Managing health complexities such as rare diseases amidst the COVID-19 pandemic is a daunting task. However, it is essential to re-address focus on all health areas and not choose areas of primacy for policy action. The Economic Survey 2021 cautions about the “saliency bias” where a policy may over-weigh a recent phenomenon neglecting other areas that may require equal attention. Thus, tackling rare diseases is as important as keeping an adequate focus on the COVID-19 damage.