'Need govt support, genetic testing to save our kids'

Two infants one aged six months and another 11 months from Mumbai have succumbed to the rare genetic disorder Spinal Muscular Atrophy SMA over the past few weeks They both suffered from type 1 of the neuromuscular disorder and passed away waiting for the treatment which is not just expensive but also very hard to getNames of both the children were shortlisted for a global lottery one for gene therapy and another for oral therapy As part of corporate social responsibility CSR three companies of Global Pharmaceuticals pick four names every month from the list of global infant patients fighting SMA to provide their most expensive therapy free of cost Both the infants were picked up in the lottery but it was too lateOver 450 young parents across the country have one thing in common their child has been diagnosed with different types 1 to 3 of SMA One among them is threemonthold Teera midday had under the title Baby with genetic disorder needs R16 crore therapy to live reported on December 11 about the struggles of her parents Mihir 35 and Priyanka 33 in getting treatment for herIn an effort to make the treatment readily available the parents of SMA patients have now come together and started a new campaign through CureSMA Foundation of India The aim is to spread awareness on the ailment They are now working on making the firstofitskind registry for SMA patients in the country CureSMA Foundation of India is the brainchild of Khargharbased couple Alpana 38 and Nishant Kumar 39 whose only son Arav 8 was diagnosed with SMA type2 when he was only 14 months old He is currently studying in Std IIIWe were shellshocked and numb The more we learnt about the disease the more our world crumbled Grief and tears began to choke me Children suffering from SMA are born with a death sentence Itrsquos a progressive life threatening debilitating condition causing multiple complications My head would pound and throb with questions Why me Why my child Cursing myself said AlpanaParents of a child born with SMA live in a constant fear because a simple cold and flu can turn into pneumonia and be fatal Every day counts as we see our child being pushed towards death SMA1 patients dont see their first or second birthday Those with SMA2 neither die nor live due to severe scoliosis rapid disease progression confined to wheelchair constant bracing severely compromised lung function aspiration pneumonia frequent hospitalisation extreme deformities she saidAlpana said three FDAapproved therapies for SMA have existed since 2019 However very few patients in India have access to these lifesaving treatments available through managed and compassionate access programs run at the mercy of pharmaceuticals Early intervention can save lives The sooner the children receive the treatment the better it isItrsquos a race against the time for parents whose children are diagnosed with this condition Itrsquos like someone has tied a time bomb on our back and we are running with the clock tickling and the bomb can blast anytime she added My brother who lives in California told us about a conference being held there on SMA and coaxed us to attend it It was the annual conference of lsquoCure SMArsquo the largest SMA conference in the world attended by doctors scientists researchers affected families and communities It was an eyeopener she recalledLaunched support groupWe came back to India a changed person with a positive mindset I began looking for an SMA organisation but realized there was none So I decided to set up a support community for families with children suffering from SMA and named it CureSMA Foundation of India wwwcuresmaindiaorg It started as a Facebook page with 10 members and has grown into an organisation with 450 members within a few years Alpana saidThe ray of hopeThe SMA world has changed with new promising therapeutic options Spinraza Zolgensma and Evrysdi The recently approved Evrysdi the first oral take home medicine for SMA developed by Roche Pharma Due to strong and continuous advocacy of CureSMA India with Roche Pharma they have agreed to bring Evrysdi to India Its price in India is expected to be low Roche has already provided Evrysdi to a small number of critically ill SMA patients under compassionate use programWe need assistanceCureSMA India is committed to Indian SMA community and it has been our endeavour to bring the treatment to India But the huge cost of these medicines is the barrier to access and we need assistance from the government to save SMA patients It is our humble request to kindly look into the matter to provide some financial support to help save the life of our dying children The disease is like a poison spreading slowly in their bodies Itrsquos absolutely heartbreaking for us to see our children wasting away in front of our eyes despite the fact that there is a promising medicine available Just because of lack of funds our children are dyingMihir and Priyanka have also become members of the foundation and the NGO has registered their daughter Teera for the lottery Contribute your time We are in for the long haul in our fight against this deadly disease The best course of action is to raise awareness and get the necessary infrastructure set up in India Only time and continuous lobbying will contribute to long lasting change they appealedThey added that the treatments available are not affordable so please donate with your heart so we can save Teeras life They also called for spreading the word on genetic testing Healthy parents could have a baby with genetic issues Genetic testing in India is in a nascent stage with limited labs and clinics for diagnosis We need to tell others about genetic testing so this becomes a common practice just like it is western countries like the US and Canada where genetic screening is part of postnatal careIn their appeal to the policy makers and government authorities they said Many parents like us are already fighting this rare and terrible disease and are watching their babies wither in their arms We ask that such lifesaving treatments be made available in India at a reasonable and affordable cost and made available without families having to burden themselves through time consuming fundraising extensive paperwork and customs and import costsformalities Please work with the pharmaceutical and insurance companies to make these treatments available and affordableExperts academician speakDr Shekar Patil consulting paediatric neurologist said SMA is one of the many neurological disorders for which we have no definite cure other than providing supportive care This is among the rarest of rare disorders seen in 18000 infants Early diagnosis of SMA during initial few weeks of delivery is very crucial as it will at least help in understanding the type of SMA and provide supportive care The need of the hour is to have a parents support groupDr Wiqar Shaikh professor of medicine at Grant Medical College and Sir JJ Group of Hospitals said This was a topic in lsquoneurologyrsquo subject which I have been teaching to my students of final year MBBS and MD for the past three decades And even in the early days though there was no treatment for SMA the topic was very much a part of the curriculum as it was one of the neurological disorders for which there was no cure and from the student academic point of view this topic could not have been ignored The irony is that even in the 21st century we have no headway into such neurological disorders despite intensive research done at various international platformsDr Shaikh said zolgensma is a gene therapy medication developed by Swiss pharma company Novartis and is used to treat SMA It was approved for treatment of children aged below two years in 2019 and is a onetime injection But the real problem is zolgensmas cost which is 21 million approximately Rs 16 crore The official website of this drug clearly mentions that lsquozolgensma is not a cure and cannot reverse damage already caused by SMA before treatment Your child may continue to show signs and symptoms of SMA now or in future Additional therapies accommodations and support may be needed to help manage your childrsquos SMA and guide his or her ongoing developmentOne wonders therefore whether this drug should be considered given its cost The Rs 16 crore label is bound to put zolgensma out of reach of patients in the poor underdeveloped and developing countries and government support will certainly be needed if this drug has to reach the common man said Dr Shaikh Genetic disorders are common even in the Indian population Dr Shaikh believes that prevention is better than cure and mass genetic testing is the need of the hour and this is what will help detect gene abnormalities in couples and prevent genetic disorders manifesting in childrenKeep scrolling to read more newsCatch up on all the latest Crime National International and Hatke news here Also download the new midday Android and iOS apps to get latest updates 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