CHEARS

Rare Disease Day

This day is observed as an mark to spread awareness, every year on the last day of February (February 29 in Leap Years or February 28), which is the rarest date of calendar to signify the nature of these rarely occuring diseases. This Rare Disease Day was first observed on 29 February 2008, in the European continent, established by EURORDIS, the European Rare Disease Organization.

A large number of rare diseases are genetcally occurring in nature and can be observed at any point throughout the person's entire life, even if the signs and clinical symptoms do not appear continuously but can internally effect the quality of life of patients.

Many of the rare diseases are found to be present in early stages of life, an estimate of about 30% of children suffering with one or the other rare diseases will end their lives before reaching adolescent age.

On this day, Patients with their families, caregivers, researchers, advocates and other citizens involve themselves through storytelling, hosting or attending event and media interviews, posting stories, videos and blogs in online platform and academical and educational initiatives in classrooms and college campuses.

Global significance

According to the data provided by National Institutes of Health (NIH), there are approximately 7,000 rare diseases till date affecting a population of 25 and 30 millions. World health organization (WHO) defines the term rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.With only four patients diagnosed with ribose-5-phosphate isomerase deficiency in last 25 years considered as the rarest known genetic disease. The definition varies based on the population and prevalence in different countries. In the USA, a rare or orphan disease is defined as ” any disease that affects less than 2,00,000 persons in their country”.

In European Union (EU), the diseases affecting less than 1 in 2,000 persons are categorized to be rare diseaes. Whereas in Japan a rare disease is defined as disease affecting not more than 1 in 2500 people. In India, due to the huge population prevalence for a disease to be defined as rare is 1 in 10,000 population. As a combined efforts, the European Commission and the World Health Organization (WHO) launched a research study to develop a universal classification of rare diseases.

Medical significance of rare diseases

Rare diseases are identified at different stages across the medical spectrum. These rare diseases or disorders which can be neurological and neuromuscular diseases, chromosomal disorders, metabolic diseases, congenital birth defects, bone and skeletal disorders, blood disorders, skin diseases, and other rare diseases affecting the essential organs like heart, lungs, kidneys, and other bodily organs and systems.

Some are widely well known by their name like cystic fibrosis, while some are not very well known like cat eye syndrome.

Studies exhibited that approximately 30% of patients and families attributed delayed diagnosis and treatment due to the lack of awareness and knowledge among the healthcare sector and also because of the limited availability of genetic testing and investigational procedures.

Out of 7,000 known rare diseases or disorders, majority of them have no specified treatment. Many rare health conditions are not being effectively studied for thier clinical significance and the patients are treated with the “off-label” (treatment strategies that are not approved by FDA for the specific conditions).

Initiatives by Government of India

The Indian Ministry of Health and Family Welfare has formulated a National Policy for Rare Disease in India to progressively build the capacity to respond and withstand comprehensively to rare disease conditions. This program mainly focuses on the promotion of research and development for drugs for rare diseases, training of doctors, generation of awareness, funding support for treatment of rare diseases and providing diagnostic equipments at affordable prices, strengthening of laboratory and clinical services, prevention and inculcating awareness among population and steps for making the drugs for rare diseases more available and accessible for common people.

Conclusion

Rare diseases are unique kind of medical conditions with low prevalence. These groups of diseases have different clinical presentations, they are progressive and sometimes may cause physical and intellectual disabilities by creating medical, social and economic difficulties. The subject of rare diseases is considered as one of the serious health and social issues in the world. Significant steps are been initiated for better knowledge and understanding among the population, medical and scientific studies are been carried out, and consequently a number of awareness programs are organized for the well being of people and the society.