Silent rally and awareness workshop held on rare genetic disorders
Bengaluru, Karnataka, August 20, 2014 -(PressReleasePoint)- With an aim to seek fund allocation for treatment of rare genetic disorders from the government, a silent rally was held at Cubbon Park in the city today. The walk organized by Lysosomal Storage Disorder Support Society (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 Government of Karnataka by means of a number of petitions/applications as well as follow up reminders to concerned authorities. The govt of Karnataka made a historic decision to include treatment of Rare Diseases children in Karnataka and made a budgetary provision in 2014-15 to set up a special unit at Indira Gandhi Institute of Child Health. Petitions on behalf of 31 patients suffering from Lysosomal Storage Disorders have been submitted to the State Govt. Although the budget has been passed in the Karnataka Assembly; the Special Unit is yet to be set up in Indira Gandhi Institute of Child Health.
In the state of Karnataka, there are about 50 known patients suffering from Lysosomal Storage Disorders (LSDs), 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 Meenakshi Bhat, Consultant in Clinical Genetics, Centre for Human Genetics, Bangalore said, “It is increasingly becoming possible to diagnose patients suffering from rare disorders such as Lysosomal storage disorders (LSD). Misdiagnosis and delay in treatment can lead to serious complications. With proper treatment, the patients can lead near normal and productive lives. The major factor limiting widespread access to enzyme replacement therapy in India is the prohibitive cost, the need to import these medicines and lack of supportive care. Most of all, the cost of definitive treatment in these medical conditions need to be supported by government health programmes”
Lavanya, a patient of MPS Type 1 gives a ray of hope for survival to other patients. Diagnosed at the age of 4 years, she could not sit, stand or hold herself like other children during her early years. But today with access to ERT she holds her spirits high. She is able to lead a normal life, pursue higher studies and celebrate her 17th birthday.
Dr Meenakshi, said “ERT is critical to improve the quality of life for patients suffering with rare genetic disorders for which there is no cure. Without treatment, there is progressive accumulation of partially degraded compounds which stealthily leads to multiorgan dysfunction.”
Said Manjit Singh, President, LSDSS: “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.”
About LSD Support Society:
The LSD Support Society (LSDSS) is a group comprising patients, families and caregivers who know what it’s like to live with LSDs. LSDSS aims to create a strong voice for LSD patients in India by forming a strong national support group. LSDSS campaigns for early diagnosis and effective, affordable and safe therapies for rare diseases such as Gaucher, MPS, Fabry and Pompe. It also strives to provide information and support to all patients, their families and others with interests in rare diseases.
Keeping in mind the low awareness levels on LSDs, the LSDSS organizes events to make the general public and decision-makers aware about rare disorders and their impact on the lives of the patients’ and their families.
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