LSDSS along with SGPGIMS Lucknow raised awareness on rare diseases
Lucknow: Worldwide, the month of February is observed as Rare Disease Awareness month. Rare diseases are serious, chronic, debilitating and life-threatening, often requiring long-term, specialized treatments and management. Most of the rare diseases especially treatable Lysosomal Storage Disorders (LSDs) are chronic in nature and require lifelong treatment having positive impact on patient lives.
The event, organized by Lysosomal Storage Disorders Support Society (LSDSS) along with Dept of Genetics, SGPGIMS Lucknow aimed at raising awareness about rare diseases, specifically LSDs such as Gaucher, Fabry, MPS I etc. Eminent stakeholders including Dr. Amresh Bahadur Singh, DGM, National Health Mission, Dr. Shubha Phadke, Head, Executive Member, IAP Department of Medical Genetics, SGPGIMS, Lucknow, Dr Shrish Bhatnagar, President, Lucknow Chapter of IAP, Mr. Vikas Bhatia, MERD and Mr. Manjit Singh, Hon. President, LSDSS spoke about the various aspects of LSDs, its impact on families, long-term management and the challenges. Many patients along with their families came together to observe and raise awareness on rare diseases and contributing to the society at large in which no one is left behind.
The event also highlighted the challenges faced by the families with LSDs and their fight to receive treatment support from Government. In May 2019, after witnessing the plight of these patients, the High court of Uttar Pradesh had multiple hearings in the span of one month to understand the situation. After considering all the aspects, the High court ruled in the favor of the patients and ordered SGPGI to re-initiate treatment. There are about 21 such rare disease patients in Uttar Pradesh and 7 of them have already died due to lack of treatment support from the government.
Recently, the MoHFW released draft of National Policy for Rare Disease 2020. The policy is far from reality and lacks genuine interest in providing the much-needed treatment to the “treatable” LSDs as listed in category III.
Mr. Manjit Singh, Hon. President, LSDSS said, “We have been working tirelessly over the last 10 years for patients and families that are affected with LSDs. The central government has released National Policy for Rare Diseases twice with a special mention of treatable LSDs. Unfortunately, nothing significant has come up for patients suffering with LSDs in terms of their treatment. In the recent draft of National policy for Rare Disease 2020, Enzyme Replacement Therapy (ERT) is mentioned to have shown significant results and can help patients lead near normal lives and become productive members of the society. The crowd-funding mechanism suggested by the MoHFW is just a temporary arrangement and has no clarity on its implementation. The number of patients in the State are handful and few of them have already died waiting for treatment. The health department should immediately provide treatment to the remaining patients. Their lives can be saved.”
Dr. Shubha Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow said, “Early diagnosis is the key to proper care and treatment. Diagnosis of rare disorders is delayed due to lack of awareness and limitations in availability of diagnostic facilities. Genetic disorders account for 80% of rare disorders. Novel strategies of treatments based on genetic pathophysiology have shown dramatic results in Spinal Muscular Atrophy and Lysosomal disorders such as Gaucher, Pompe, Fabry etc. ERT for LSDs has improved quality of life and outcome. Many patients on ERT are leading a productive and happy life. With availability of treatment, suspecting these disorders based on clinical presentation is important to detect treatable disorders. Newborn screening also needs to be implemented.”
“In the past 3 decades, Department of Medical Genetics at SGPGIMS is working towards raising awareness on rare genetic disorders by conducting short-term training programs. SGPGIMS also supports families by providing genetic counselling & prenatal diagnosis, added Dr. Phadke.”
Health being a state subject, a state level intervention for treatment would save the life of children suffering from life threatening rare diseases. SGPGIMS is one of the recognized centre of excellence under the draft policy. The state should provide treatment to the needy patients through the SGPGIMS till the final policy gets its implementation from the centre. Through such programs, rare disease patients in Lucknow are hopeful to witness a positive development on the treatment support soon as everyday counts.