INTRODUCTION

The field of rare diseases is very complex and incommensurable and prevention, treatment and management of rare diseases has multiple challenges. The visible feature of an area of rare disease is constantly changing. Early diagnosis of rare diseases is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.

The Union Health Minister of India has approved the National Policy for Rare Diseases after multiple consultation with experts in view of long standing demand for prevention and management of rare disease.

There are many challenges in research and development for majority of diseases. Rare diseases are difficult to diagnose due to lack of availability of adequate screening, diagnostic facilities, adequate funds, lack of knowledge to deal with it, lack of infrastructure, etc. Being without diagnosis is difficult for the families affecting the health and survival of patient. Even if there is no cure, family must be made to understand what are they facing, and they can start to focus on how to manage the disease and their new normal.

OBJECTIVE

The new ‘Rare Diseases Policy’ aims to lower the high cost of treatment for rare diseases with increased focus on initial research with the help of a National Commission to be set up with the Department of Health & Family Welfare. The policy envisages creation of a national hospital-based registry of rare disease so that adequate data is available for research and development to rare diseases within the country.

The policy focuses on early screening and prevention through primary and secondary health care infrastructure such as Health and Wellness Centers and counseling for the high-risk parents. The policy aims at strengthening health care facilities for prevention and treatment of rare disease through designating eight health facilities centers and it will provide financial support of up to Rs. 5 crores for upgradation of diagnostic facilities. Increased focus on research and development and local production of medicines will lower the cost of treatment for rare diseases.

IMPACT OF RARE DISEASES

It is found that patients with rare diseases succeed with coordinated care, structured support and diagnose. It also depends from country to country and their access to healthcare services and treatments.  The cost of managing person with rare disease and the price of medication is not always affordable for people. Combined with additional financial issues, stress and anxiety on the families remains a considerable challenge.

The high cost of rare disease are an important concern. Drug development process take time to process which hampers the development in research of such rare conditions. The clinical efficiency is not that advanced which results in failed trials of tests.

Despite medical advances with new technology and development in recent years, a misdiagnosis or lack of knowledge with respect to rare disease or undiagnosed condition remains significant challenges.

It not only affects the patient, but also the families of such patient with health, survival, well-being, stress, finance, etc.

There is an immediate need to create awareness among general public, patients and their families, doctors, training doctor about the accurate diagnosis which will make it possible to correctly and timely diagnose such condition. Unavailability of drug is another aspect which has caused increase in the price of medicine. As rare disease are contracted to a small number of individual, the drug manufacturer cannot  constitute a market with these drugs. Therefore, they charge more price to bring and develop the drug to the market.

THE NEW POLICY

A provision for financial support up to Rs. 20 lakhs under Rashtriya Arogya Nidhi have been proposed for the treatment of those rare diseases that require a one-time treatment.

Besides, the policy also proposes a crowd-funding mechanism in which corporates and individuals will be encouraged to extend financial support through IT platform for treatment of rare diseases. Funds so collected to be utilized by centers for treatment of all three categories of rare diseases as first charge and then the balance financial resources could also be used for research.

As resources are limited, the policy makers are prioritizing certain set of outcomes to provide healthy life to those who are in need of it. Such as prioritizing poor who cannot afford their healthcare. Both Central and State Government are assigned with roles to develop Standard Operating Protocol to improve early diagnosis and better care of patient.

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