Structure:

Introduction: (up to 30 words) Write about the Governments obligation to provide for the treatment of people especially economically disadvantaged suffering from rare diseases as a welfare state under A.21 and A.47.

Body: (up to 100 words) Write about the reasons why such a National Policy is necessary. Include the short note on LSD.

Conclusion: (up to 30 words) Conclude by pointing out the need for awareness on rare and genetic disorders in the Country.

Supporting Points:

After being directed by the Madras High Court, on January 6, to consider the issue of providing medical care to those suffering from the rare Lysosomal Storage Disorders (LSD) as a “national emergency”, the Centre informed the court of having notified a draft national policy on rare diseases. The draft policy would categorise rare disorders amenable to one-time curative treatment such as Hematopoietic Stem Cell Transplantation (HSCT) and disorders that were amenable to organ transplantation into one group, and states that they could be provided with financial support.

It further added that a maximum of ₹15 lakh could be provided to each patient under the umbrella scheme of Rashtriya Arokya Nidhi and that the beneficiaries would not be limited to families below the poverty line. Instead, support would be extended to 40% of population in accordance with the norms of the Pradhan Mantri Jan Arogya Yojana.

The judges pointed out that Article 21 (fundamental right to life) coupled with Article 47 (duty of the state to raise the level of nutrition and the standard of living and to improve public health) of the Constitution makes the Centre as well as the State government obligated to provide health care to LSD patients, especially to those who were living below the poverty line and could not afford the expensive treatment.

The need for a National Policy for Treatment of Rare Diseases:

If we apply the international estimate of 6% to 8% of population being affected by rare diseases to India, we have between 72 to 96 million people affected by rare diseases in the country, which is a significant number with no policy to deal with it.

The absence of a rare disease policy, low disease awareness amongst patients and lack of accessibility to specialists are critical factors that make the rare disease patients furthermore vulnerable.

Reluctance of the State government to allocate funds for treatment of rare diseases on the perception that treatment could only prolong longevity of patients and not cure them permanently.

Budgetary allocations made for expenditure on health in many States unutilized while not being used for such rare diseases.

LSD patients, require around ₹ 40 lakh each per year to address the medical needs of the rare diseases. It is simply impossible for poor families to meet such expenses.

The wait for financial support for treatment is getting longer for patients with rare diseases. The applications of about 190 patients — a majority of them children suffering from Lysosomal Storage Disorders — seeking treatment support has been pending with the Union Ministry of Health and Family Welfare for several months.

The most common rare diseases identified in India are Haemophilia, Thalassemia, Sickle-cell Anaemia, Primary Immuno Deficiency, Lysosomal Storage Disorders such as Gaucher Disease, Fabry Disease, Hunter Syndrome and Pompe’s Disease.

Lysosomal storage diseases (LSDs):

Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective, because of a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000.