Urgent measures are required to tackle rare diseases, urge experts

Bengaluru, 6th August 2018:In the backdrop of an event focusing on Lysosomal Storage Disorders (LSDs) held at Bangalore Medical College & Research Insu, leading experts emphasised on the need to take urgent measures to tackle this issue.The panel of speakers included Dr. SaralaSabapathy (Head of the Department, Vani Villas hospital, Bangalore Medical college and Research Institute), Dr.Shiva Prakash Sosale (AssistantProfessor, Vani Villas hospital, Bangalore Medical college and Research Institute), Dr. Radha Rama Reddy (Hyderabad), Dr. Anju Shukla (Manipal Hospitals, Bangalore), Dr. Pramila (Institute of Child Health, Chennai),Dr.Sanjeeva G N (Indira Gandhi Institute of Child Health, Bangalore) andMr. Prasanna Shirol (Co-Founder & Executive Director, Organisation for Rare Diseases India (ORDI))wherein they deliberated on some of the pressing issues related to rare diseases.

Rare diseases, by definition, are those which affect a very small population. While having any rare disease means an extremely painful life, patients suffering from a particular segment of rare diseases called Lysosomal Storage Disorders (LSDs) like MPS (type I, II, III, IV, VI& VII), Gaucher, Pompe, Fabry, etc. are more likely to lead an incapacitating life.Inborn Errors of Metabolism (IEMs) and metabolic disorders including LSDs are considered as rare disorders. 

“Rare disease patients suffer from disabling conditions wherein it becomes difficult for them to perform even simple daily tasks. Moreover, their condition deteriorates with time since these disorders are progressive. Compounding the problem is the fact that a lack or delay in diagnosis and treatment makes their condition worse. Here, the basic thing to remember is that correct and timely diagnosis and right treatment is important for people suffering from rare diseases and can help improve their quality of life. Proper interventions are, therefore, required which can make diagnosis and treatment more accessible for people”, said Dr.Sarala Sabapathy.

Dr.Shiva Prakash said,“Taking a positive step towards countering the various issues of rare diseases, the central government last year came up with the National Policy for Treatment of Rare Diseases. The policy is very comprehensive and covers all major aspects related to rare diseases including having a definition of rare diseases, establishing more diagnostic centresand developing web-based applications.”

Commenting during the event in Bengaluru, Mr. Prasanna Shirol said,“Karnataka has been the first state which is trying to deal with rare diseases as a health issue. Taking this forward, the state has formed a state technical committee and has submitted 20 patient applications to the Central Technical Committee (CTC) to be processed for treatment. We have now another 40 patient’s application are ready to submit. it is our humble request to the Karnataka state government to release amount and start treatment of these rare diseases patients. It is highly critical that these patients receive treatment at the early stage so that they can lead a normal life.”

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