The Karnataka government is yet to release Rs.10 crore for setting up a special unit at Indira Gandhi Institute of Child Health (IGICH) to treat lysosomal storage disorder (LSD). Although chief minister Siddaramaiah had announced that his government had set aside Rs.10 crore, for patients with rare diseases who could be treated at dedicated unit, the facility is yet to come up.
LSD can be detected easily but a limiting factor is the drug cost which needs to be imported and the government needs to chip in financial assistance to treat patients, said Dr Meenakshi Bhat, consultant, clinical genetics, Centre for Human Genetics, Bengaluru.
This led to the Lysosomal Storage Disorder Support Society (LSDSS) to hold a silent march in Bengaluru with an aim to seek fund allocation for treatment of rare genetic disorders from the government.
The walk organized by LSDSS in association with Centre for Human Genetics saw participation from around 50 rare disease patients along with their parents holding placards and banners to highlight their plight to the Government of Karnataka.
LSDSS has been continuously approaching the Karnataka government through a number of petitions/applications as well as follow up reminders to concerned authorities. In fact, petitions on behalf of 31 patients suffering from lysosomal storage disorders have been submitted to the State government.
The state accounts for about 50 known patients suffering from lysosomal storage disorders which is a group of over 45 rare genetic disorders that occur due to the deficiency of specific enzymes in special compartments (lysosomes) of cells.
Treatment in the form of enzyme replacement therapy (ERT) is available for a few disorders. The diseases for which ERT is currently the standard of care to lead a normal life are Gaucher disease, MPS I, MPS II, Pompe disease, Fabry disease and MPS VI.
The silent rally was followed by a patient awareness workshop where Dr. Bhat, said misdiagnosis and delay in treatment lead to serious complications. With proper treatment, the patients can lead near normal and productive lives. ERT is critical to improve the quality of life for patients for which there is no cure. Without treatment, there is progressive accumulation of partially degraded compounds which stealthily leads to multiorgan dysfunction.
According to Manjit Singh, president, LSDSS the treatment for LSD is beyond the reach for most patients. Government support in terms of funding is imperative to help them lead a normal life. We urge Karnataka government to release funds already allocated in the state budget for the treatment of rare diseases without any further delay so that patients get timely treatment.