A milestone in the field of rare and genetic diseases has been achieved! For the first time in the medical history of India, Gaucher Disease Day was observed by Lysosomal Storage Disorder Support Society (LSDSS) and the All India Institute of Medical Sciences (AIIMS), Delhi.With an aim to spread awareness about the rare genetic disorder, a workshop was held at the medical institute on Gaucher Day, providing an opportunity to recognize the illness as a critical health problem in order to advanceits prevention and control.
Gaucher Disease is caused by a deficiency or absence of an important enzyme called glucocerebrosidase, used to help breakdown a fatty substance in a specific area of certain cells. A life threatening condition, it is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen.
Dr. Seema Thakur, Genetic Consultant, Fortis Hospital, said: “It is essential to create awareness about Gaucher Disease, a rare but debilitating medical condition. Low awareness, even among medical practitioners, is the main cause of delay in diagnosis. Treatment is very expensive and beyond reach of common public, hence government support is crucial in financing the treatment of LSDs such as Gaucher.”
The workshop witnessed a gathering of around patients along with their families from different parts of the country, along withdoctors andresearchers.The patients shared the stories of their lives and struggles, with a hope to draw much-needed Government support and intervention.
6 year-old Smita Pal hailing from Lucknow, suffering from Gaucher Type 1, was present at the event. Her father, Shiv Babu said: “It was heart-wrenching to know that my child suffered from this rare genetic disorder. My only wish is to see my child lead a near normal life. I, therefore, urge the Government to take immediate action to help her get proper treatment.”
Mr Prasanna Kumar Shirol, President, LSDSS, said: “A number of patients across the country suffer from Lysosomal Storage Disorders. Out of Around 45 LSD in number, only six of its sub-disorders are curable. However, due to high treatment cost and the treatment duration being indefinite, it almost often takes a toll on the families affected. The aim of the workshop was to sensitize the general masses about LSDs and its various implications. Also, we are committed to build a consensus amongst the decision makers around this issue, to attract the much-required Government intervention.”
Dr. Sunita Bijarnia Maha, Consultant Genetic Metabolic Physician, Center of Medical Genetics Sir Ganga Ram Hospital added: “Patients suffering from LSDs rarely receive adequate medical treatment as the Government fails to understand the plight of these patients. Every individual has a full right to live freely, and therefore, mass awareness and Government help is imperative to aid such patients in leading a better life.”