27thSeptember 2018, Bangalore: In the run up to International Gaucher Dayto be commemorated on 1st October, the Centre for Human Genetics (CHG)together with Organization for Rare Diseases India (ORDI), organised a Gaucher disease awareness event in Bengaluru.
Gaucher disease is a rare genetic disorder thought to affect 1 in 40,000 individuals. It belongs to a group of genetic disorders called Lysosomal Storage Disorders (LSDs). Therapy for this rare disorder has been available in the form of enzyme replacement therapy since the 1990’s. Treatment for Gaucher disease is expensive and has to be given life-long. This event was organised to raise awareness about Gaucher disease, the effectiveness of treatment and to applaud the support of the Karnataka Government in facilitating treatment for some of the patients affected with Gaucher disease.
At the Centre for Human Genetics, genetic testing for over 100 patients has been completed. Of these around 20 patients are receiving regular treatment with enzyme replacement therapy at the Rare Diseases Centre of Excellence based at Indira Gandhi Institute of Child Health. This unique day care ward is a first of its kind in India where all patients with rare diseases are treated without cost. It was started in co-operation with ORDI, CHG and IGICH.
Speakers at this meeting included genetic experts including Professor HSharat Chandra (Honorary Director, CHG), Dr Meenakshi Bhat and Dr Swathi Shetty, both faculty at CHG. The story of his own successful treatment was narrated by an adult Gaucher patient, Mr Vilol who is currently employed and married. Mr Prasanna Shirol (Co- Founder & Executive Director, Organisation for Rare Diseases India (ORDI) also spoke on the occasion describing the setting up and importance of the Rare Diseases Centre of Excellence in providing therapy to these patients. The guests of honour included eminent scientists, doctors and government dignitaries from IT/ BT department, GOK.A number ofGaucher patientsreceiving treatment and their family members were also present on the occasion and shared their experiences and provided practical support and encouragement to other affected families.
Explaining about the disorder, Dr.Bhat said, “People affected with Gaucher’s disease lack an important enzyme which is responsible for breaking down a specific type of fat molecule.Thisleads to symptoms like enlargement of spleen andliver anaemia, growth failure in early childhood. Early diagnosis and appropriate treatment can allow an affected individual to lead a near normal life. An event like this is a very good way of spreading awareness about early diagnosis and prevention.”
“Gaucher disease is a serious condition which often makes it difficult for patients to do simple daily chores. Through this event, we aim to highlight the positive impact of timely treatment on the life of a patient. We would like to take this opportunity to thank the Karnataka government which has undertaken various interventions to provide treatment to rare disease patients. Till today about 7patients have been the beneficiaries of treatment due to timely action from the Govt. of Karnataka. This is very encouraging and would certainly set an example for other state governments. There are other young affected children waiting for treatment and we are confident that the Govt. will assist in providing treatment support to these patients also who have submitted their applications”, said Mr. Prasanna Shirol, ORDI.
