Mumbai: Anonymous donor, CMO send aid for baby with rare disease

Last week a Good Samaritan donated Rs 2 lakh to KEM hospital for the lifesaving treatment of 14monthold Aakriti who is suffering from Spinal Muscular Atrophy SMA after reading about her condition in midday Additional financial aid came from the Chief Ministerrsquos Office CMO which released Rs 50000 for her treatmentWith hardly a week left for Aakritirsquos next lifesaving dosage her parents have once again written to the chief minister CM and deputy chief minister seeking financial aid midday had reported on January 4 about Aakritirsquos parentsrsquo struggle to arrange the drug Risdiplam which costs over R6 lakh per dose and is to be administered every 37 daysA Good Samaritan from Mumbai contacted Aakritirsquos parents through KEM hospital ldquoHe sought additional information about Aakriti and also desired to go through her medical reports which were sent to him Last week we were informed by KEM hospital that a donation of Rs 2 lakh was received for Aakritirsquos treatment The hospital also informed us that an additional Rs 50000 was received from the CMrsquos fund We also received an email about it from the CMOrdquo said Aakritirsquos mother Chartered Accountant Kirti Singh a resident of CBD Belapur Navi Mumbai Kirti gave up her corporate job after Aakriti was diagnosed with SMA type 1 SMA1 at the age of four monthsldquoThe financial aid has been a major support in saving Aakritirsquos life The funds collected so far have totalled Rs 5 lakh yet it is too little as annual treatment would cost up to R34 lakh and halfyearly treatment would cost Rs 12 lakhrdquo Kirti said The effects of Aakritirsquos last dosage will start waning in a week ldquoWe have written again to CM Eknath Shinde Deputy CMs Devendra Fadnavis and Ajit Pawar Tanaji Sawant minister of public health and family welfare and Milind Mhaiskar additional secretary health on January 15 seeking help for Aakritirsquos treatment We have not received any reply so farrdquo Kirti saidHow treatment helpedAakriti received the last dose on December 27 2023 ldquoWithout further dosage Aakritirsquos condition will deteriorate and her life will be at riskrdquo Kirti said Aakriti has been receiving medicines under a sampling program through KEM Hospital for the last six months and her development is significant Her CHOP INTEND score Childrenrsquos Hospital of Philadelphia Infant Test of Neuromuscular Disorders has gone from 17 to 44It quantifies the natural decline of motor skills in SMA1 infants The maximum possible score is 64 By six months of age SMA1 infants almost never achieve a CHOP INTEND score greater than or equal to 40 Aakriti can now roll on her own and sits independently with no respiratory or swallowing disorder ldquoWe are grateful for people who have helped us in difficult times We are waiting for the government to help us save our childrdquo Kirti saidIncreased grantAlpana Sharma founder of Cure SMA Foundation whose son is also being treated for SMA2 said ldquoWe have over 1300 registered SMA patients with CureSMA India As per our database there are 28 per cent SMA1 49 per cent SMA2 20 per cent SMA3 and 3 per cent SMA4 patients in India This means that around 28 per cent of patients may die even before diagnosis as SMA1 is the most severe The remaining 72 per cent of patients struggle with progressive disease leading to severe and multiple disabilities The government has hiked the grant for rare disease treatment from R20 lakh to R50 lakh as per a new office memorandum issued on May 19 2022 by the Union Ministry of Health amp Family Welfare Rare Diseases Cell New DelhirdquoPolicy on paperldquoThe new rule will allow any rare disease patient to claim Rs 50 lakh from the government The grant was hiked by amending Paragraph 10i of the National Policy for Rare Diseases NPRD 2021 which provided lsquofinancial support up to Rs 20 lakh under the Umbrella Scheme of Rashtriya Arogya Nidhi RANrsquo In its place the revised policy replaced the above rule with the following lsquoFinancial support up to R50 lakh shall be provided to the patients suffering from any category of the Rare Diseasesrsquo Sadly not a single SMA patient has received the grant For us this policy remains on paper All our pleas to the government are falling on deaf earsrdquo Sharma saidldquoAs per data published by the Department of Genetics SGPGIMS Lucknow and the Department of Genetics Sir Ganga Ram Hospital the carrier frequency of SMA in India is 1 in every 38 people The incidence rate of SMA is 1 in every 5670 to 3112 live births average 4391 births This means that for the current live births of 15956914 there are around 3634 children born with SMA every day and 1326410 children are born with SMA every yearrdquo Sharma added ldquoWe are grateful to midday for their exceptional support in spreading awareness about this gruesome disease and our struggle We are truly grateful to the Good Samaritan who anonymously donated Rs 2 lakh Itrsquos my humble request to all readers to help save Aakritirdquo Sharma saidDec 27Day Aakriti was given the last dose37Days interval at which Aakriti needs the meds