Jaipur, April 2019: Making rare disease a public health priority the Government of Rajasthan has created the Rajasthan Rare Disease Working Group to address the needs of rare disease patients in the state. The committee comprises of 10 multidisciplinary senior physicians from different specialties such as neurology, endocrinology, gastroenterology, internal medicine, genetics, and pediatrics from different parts of Rajasthan such as Jodhpur, Jaipur, Ajmer and Bikaner.They met recently to link and share ideas with regards to access to treatment & education for rare diseases. The Key personnel involved from Government of Rajasthan were Dr. Rommel Singh, RCH Director Rajasthan, Dr. Ashok Gupta, MS, J K Lon Hospital, Jaipur and Dr. Samit Sharma, Special Secretary & MD NHM, Rajasthan.

The meeting addressed one of the important challenges of awareness about rare disease with the unveiling and release of LSD and IEM posters, both in Hindi and English language. These posters will be disseminated officially through NHM Rajasthan in collaboration with LSDSS at government medical colleges and health centers including Primary health Centers. The posters have been tailored for patients and physicians to increase awareness about diagnosis of LSD and IEMs. The LSD poster has a special mention of DISHA, the DBS diagnostic service.  

Commenting on the initiative Dr Ashok Gupta, superintendent of JK Lon hospital, who is expert in rare diseases, said, “Patients suffering from rare diseases, especially Lysosomal Storage Disorders (LSDs), often lead a very incapacitating life. They are primarily caused due to dysfunctional enzymes. These disorders are often chronic and severely hamper the quality of life of a patient.It is a great initiative to generate awareness among medical fraternity about rare diseases as a condition.This informative enterprisewill enable timely diagnosis of this condition which otherwise is a challenge due to overlapping symptoms with other conditions.”

In Rajasthan about 14 identified patients suffering from lysosomal storage disorder (LSDs) had submitted their applications to the government of Rajasthan to appeal for treatment. Out of which 03 have already died in vain due to inability of the state health government to provide life-saving enzyme replacement therapies.

Manjit Singh’s, Honorary President LSDSS said, “We are seeing a ray of hope with the current initiative by the government of Rajasthan to create awareness about rare disease. Although awareness is a key element for these conditions, timely intervention is an integral part for bettering the lives of patients. Delay in treatment is levying a heavy burden emotionally and financially on the patient’s lives. Rajasthan is a progressive welfare state. We are positive that the treatment needs of rare disease patients will also be addressed by the government with the implementation of the state policy.”

“Prenatal genetic counselling and testing should also be introduced for all conceiving mothers to prevent the genetic diseases which will further help in reducing financial burden on parents as well on the State”, he further added.

It is necessary to recognize the need for diagnosis and treatment of rare diseases in the public domain Health being a state subject, a state level intervention in this regard would create that impact through this initiative. Rare disease patients in Rajasthan are hopeful to witness a positive development on the treatment supportsoon.

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