Patient Support Groups For Rare Diseases Seek Prime Minister’s Intervention For Finalising A National Policy

The LSDSS and another patient support group - Cure SMA India have recently written to the Prime Minister urging him to take immediate steps for finalization of the long-pending National Policy on Rare Diseases 2020.

Patient support groups for rare diseases like Lysosomal Storage Disorders (LSDs) and Spinal Muscular Atrophy (SMA) have sought Prime Minister Narendra Modis intervention for finalising the long-pending National Policy on Rare Diseases 2020.

LSDs and SMA are genetic and rare diseases categorised under Group 3 disorders in the draft National Policy on Rare Diseases 2020.

LSDs, in particular, impact children, causing 35 per cent of deaths below the age of 1 year, 10 per cent between 1 and 5 years and 12 per cent between 5 and 15 years.

While LSDs are inherited metabolic diseases,  SMA is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles).

“We would like to express our gratitude to you for initiating measures to increase the government share of spending on healthcare. “This is a step in the right direction, considering that the National Health Policy 2017 envisages raising public health expenditure progressively to 2.5 per cent of the GDP by 2025,” said the representation, signed by Manjit Singh and Archana Panda, Co-Founder and Director (Patient Advocacy) of Cure SMA India.

“Without any support and the inability to mobilise funds for their treatment, a majority of the patients and their care givers are left with no option but to wait for the inevitable situation and helplessly watch their children deteriorating and losing lives,” they said in the representation.

While over 7,000 rare diseases have been identified globally, with an extremely limited number of treatment options, in India definitive treatment is available for only 12 to 15 types of rare diseases.

Rare Diseases

A rare disease is a health condition of low prevalence that affects a small number of
people compared with other prevalent diseases in the general population. It is
estimated that globally around 6000 to 8000 rare diseases exist with new rare diseases
being reported in the medical literature regularly. However, 80% of all rare disease
patients are affected by approximately 350 rare diseases.

Paradoxically, though rare diseases are of low prevalence and individually rare,
collectively they affect a considerable proportion of the population in any country,
which according to generally accepted international research is – between 6% and 8%.
Rare diseases include genetic diseases, rare cancers, infectious tropical diseases and
degenerative diseases. 80% of rare diseases are genetic in origin and hence
disproportionately impact children.

There is no universally accepted definition of a rare disease. Different countries define
rare diseases differently. However, the common considerations in the definitions are
primarily, disease prevalence and to varying extent – severity and existence of
alternative therapeutic options. India must arrive at its own definition suited to its need,
based on a careful consideration of prevalence, disease severity and study-ability.

Need for a Policy

Rare diseases are, in most cases, serious, chronic, debilitating and life threatening
illnesses, often requiring long-term and specialised treatments/management. In
addition, they often result in some form of handicap, sometimes extremely severe.
Moreover, they disproportionately impact children: 50% of new cases are in children
and are responsible for 35% of deaths before the age of 1 year, 10% between the ages
of 1 and 5 years and 12% between 5 and 15 years.

The Draft National Policy for Rare Diseases-2020

The draft National Policy for Rare Diseases-2020 has proposed financial support of up to ₹15 lakh under an umbrella scheme of the Rashtriya Arogya Nidhi for those rare diseases that require a one-time treatment. Beneficiaries for such financial assistance would not be limited to Below Poverty Line (BPL) families, but extended to 40% of the population eligible as per the norms of the Pradhan Mantri Jan Arogya Yojana, for their treatment in government tertiary hospitals only.

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