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Rare Disease Patients Await Treatment

Rare Disease Patients in Punjab await treatment support from the state Government

Lysosomal Storage Disorders Support Society (LSDSS) along with Health & Family Welfare Punjab raised awareness on rare diseases

14th February 2020, Chandigarh: 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 Health & Family Welfare Punjab at Parivar Kalyan Bhavan,Chandigarhaimed at raising awareness about rare diseases, specifically LSDssuch as Gaucher, Fabry, MPS I etc. Eminent stakeholders includingDr. Inusha Panigrahi, Senior Geneticist and Prof. Genetic-Metabolic Unit, Dept. of Pediatrics, PGIMER, Chandigarh, and Dr. Arvind Chabbra, State Coordinator,LSDSSspoke about the various aspects of LSDs, its impact on families and caregivers, their long-term management and the challenges. Many patients along with their families came together to observe and raise awareness of 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 the plights of the patients who are yet to receive treatment support from Government. In January 2018, the Punjab State Government formed a State Technical Committee (STC) for rare diseases based on earlier National Policy on Treatment . Basis the STC meetings,4 LSD patients wereevaluated and forwarded to Central Technical Committee for further consideration. However, no heed was given to patient applications and policy of 2017 was kept in abeyance. Over the last 2-3 years, 6 to 8 LSD patients have been diagnosed and need immediate attention.

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 3 disease list.

Mr. Manjit Singh, 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. Since the number of patients in the Stateof Punjab are handful, the health department should support the treatment needs of these patients.”

Mr. Manjit Singh also added, “One such example of timely intervention is Dr. Arvind Chabbra a Fabry diseasepatient in the state of Punjab. He was diagnosed on time andreceived timely treatment which helped him achieve his goals of becoming a doctor.”

Dr. Inusha Panigrahi, Senior Geneticist and Prof. Genetic-Metabolic unit, Dept. of Pediatrics, PGIMER, Chandigarh, said, “Patients suffering from rare diseases, especially LSDs, often lead anincapacitating life. These are primarily caused due to defect in the genes of a human body. A defective gene does not allow to produce an enzyme that is required for the cells to function leading to multi-system defects to deficient or dysfunctional enzymes. A high index of suspicion for rare disorders leads to early referrals and appropriate evaluation and confirmation of diagnosis. In severe disorders, prenatal diagnosis can prevent the  recurrence in the affected families. The objective should be to identify the treatable disorders and manage accordingly.Enzyme Replacement Therapy (ERT) is now available for more than a handful of disorders as a treatment modality. It has had a positive impact on the life of many patients.”