Rally held to raise awareness about rare genetic disorders

Seeking to raise awareness about rare genetic ailments known as Lysosomal Storage Disorders (LSDs), a group of people, including those affected by it, today held a rally here and also appealed to the government to come up with a policy on it.
The walk was organised by an NGO, Lysosomal Storage Disorders Support Society, India (LSDSS) on the eve of International Gaucher Day.
Nearly 30 patients afflicted by LSDs and their caregivers marched from Jantar Mantar to Connaught Place holding placards and banners to highlight their plight.
LSDs are a group of 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.

"The aim of the rally was to appeal to the Centre to expedite policy formation on it as also to seek fund for treatment of these rare genetic disorders," an official of LSDSS said.
The NGO claimed that "two committees have been formed this year to address the concerns of patients with rare diseases including, LSDs, but nothing concrete has emerged in terms of providing free treatment, the primary demand of these patients and families."

An awareness programme held after the walk saw discussion on the ways and means of funding the treatment of rare genetic disorders like Gaucher, MPS (mucopolysaccharidoses), Fabry and Pompe.

"The treatment of these serious health conditions is available with advancements in medical science but beyond the paying capacity of patients," the official said.
Gaucher's disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs.
"Enzyme Replacement Therapy (ERT), the most effective treatment for LSDs has been available in India however most patients are deprived from receiving the treatment due to their high cost. These treatments are not supported by government or insurance companies unlike in developed countries," the NGO said.
"ERT is critical to improve the quality of life for patients suffering with rare genetic disorders such as Gaucher disease for which there is no cure. Without treatment, there is progressive accumulation of partially degraded compounds which stealthily leads to multi-organ dysfunction," said Dr A P Dubey, Head of Department of Pediatrics at Maulana Azad Medical College.