“A rare disease fund has been established by the Government to support treatment of patients. In 2022-23, we supported 203 patients to the tune of Rs 35 crores, a big leap from zero funds three years ago.In 2023-24, this amount rose to Rs 74 crores. In the current fiscal, a budget of Rs 82.4 crore has been assigned for the purpose, out of which Rs 34.2 crore has already been disbursed. However, we realize that even this is not sufficient as we don’t want to leave any patient behind,” Dr. L Swasticharan, Additional DDG with DGHS, Ministry of Health & Family Welfare (MoH&FW) said while addressing the gathering at SMArtCon2024, a two-day National Conference on Spinal Muscular Atrophy held in Gurugram during the ongoing SMA Awareness Month.
Dr. L Swasticharan announced that MoH&FW is actively considering establishing a specialized Technical Expert Group focusing on Spinal Muscular Atrophy, a rare and genetically inherited neuromuscular disease that robs people of physical strength by affecting motor nerve cells in the spinal cord. “Called Tech MSA, the Group will advise centers of excellence on rare diseases spread across the country on what needs to be done regarding SMA and provide technical inputs. If we can successfully solve the challenge of SMA, the same model can be replicated for other rare diseases in the country,” he added.
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“Awareness of rare diseases is low even amongst clinicians, and not many of them are working in this area. A synergy is required between the Government and the medical community to address the challenge. We have a national policy for rare diseases and a mechanism to include more ‘orphan’ diseases in the list. The medical community must come forward and help the Government identify priority diseases for attention and treatment as funds are limited. We need to make drugs available and affordable for patients. For this, the Government is focusing on indigenous research and production, supportive therapy, and CSR funding. We are requesting pharma companies to provide funds to set up specialized clinics for rare diseases where patients can go for treatment,” Dr. Swasticharan added.
“Around 4,000 children are born every year with SMA in India. It is the number one genetic cause of death for infants. The US FDA approved the first-ever drug for SMA in 2016. Accessibility, affordability, supportive care and delayed diagnosis remain a huge challenge. The ultimate solution lies in indigenous research but that will take several decades. Meanwhile, we cannot just leave the current patients to deteriorate and die.”
“I urge the Government to further enhance budgetary support for treatment of rare diseases and provide special attention to SMA patients who are currently left to fend for themselves. The treatment is so expensive, it is beyond the reach of almost every patient. We at Cure SMA Foundation firmly believe that successfully meeting the challenge of SMA would provide a model for effectively tackling other rare diseases in the country,” Moumita Ghosh, Co-founder & Director, Family Support & Events, Cure SMA Foundation of India said.
“We have no other option”
“We SMA patients are achievers and give our 200% to every endeavor, as we have no other option. We are much more focused and determined. We sit in our wheelchair for hours at a stretch and can work single-mindedly. We don’t take breaks or go outside home. We are a very good investment for employers. We can deliver many times more value than what an able-bodied person can. SMA patients are successfully running businesses, founding companies, topping CBSE Board exams, and getting admission into IITs. Society should give us a chance to join the mainstream and become productive members. We will not disappoint,” said Rustam, an SMA patient.
“Lack of treatment has made it extremely difficult for us to carry on with our lives,” says the father of 28 year old Roli Rastogi and 26 year old Akshat Rastogi, who have SMA. “We feel debarred from visiting public places, taking public transport services and accessing facilities because there is no provision for our kids in these places. There is a lack of awareness about rare diseases which makes us feel excluded, says the father of two, who has not taken a train in the last several years because of lack of facilities. “I urge the government to pay equal attention to patients like my kids and lighten our burden socially and economically,” says the father of two.
Parents of those who are struggling with SMA have urged for an affordable and accessible treatment method. They have also urged to make public places accessible to everyone so that their kids feel included in the society.
SMArtCon2024 was organized by Cure SMA Foundation of India to help build a sustainable ecosystem for SMA and other rare diseases. Participants included over 80 prominent doctors from all over India along with medical students, researchers, therapists, and several individual patients with SMA, along with their families, from locations such as Jammu, Coimbatore, Varanasi, Punjab, Odisha, Jaipur, and Delhi NCR. It was held in collaboration with the Academy of Child Neurology, Society for Indian Academy of Medical Genetics, Tata Institute of Genetics and Society, and Artemis Hospital (Gurugram).
Among the dignitaries in the event were Dr. DK Sable, Deputy Drugs Controller, CDSCO; Dr Debashish Chowdhury, Director, Professor & Head of Neurology, GB Pant Institute of Post Graduate Medical Education & Research (GIPMER); Dr. Sheffali Gulati, Head of Pediatric Neurology, AIIMS Delhi; Dr. Ratna Dua Puri, Chairperson, Institute of Genomics, Sir Gangaram Hospital.
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