The All India Institute of Medical Sciences (AIIMS), Delhi in association with Lysosomal Storage Disorder Support Society (LSDSS) has recently arranged a workshop on Gaucher Disease Day for the first time at AIIMS. The aim was to spread awareness about the rare genetic disorder providing an opportunity to recognize the illness as a critical health problem in order to advance its 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, anaemia, 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 number of patients along with their families from different parts of the country, along with doctors and researchers.The patients shared the stories of their lives and struggles, with a hope to draw much-needed Government support and intervention.
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, Centre 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.”
Gaucher disease causes fatty deposits to build up in certain organs and bones. It can cause a wide variety of symptoms. In healthy people, the enzyme glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sy-daze) helps the body to break down a certain type of fat molecule (glucocerebroside). People with Gaucher disease do not have enough of this enzyme. As a result, cells fill up with the undigested fat. These cells are referred to as Gaucher cells.