Mumbai: Baby with genetic disorder needs Rs 16 crore therapy to live

The COVID19 lockdown had brought some cheer for Andheribased Kamat couple as they welcomed their first child Teera on August 14 But soon things went awry when their daughter was diagnosed with a rare genetic disorder Spinal Muscular Atrophy SMA Threemonthold Teeras parents Mihir 35 and Priyanka Kamat 33 have been doing everything possible for their daughters treatment but the biggest challenge for them is to raise 16 crore for a single shot of gene therapy the only way she can surviveTeera with her parents Mihir and Priyanka KamatTeera has been diagnosed with SMA Type 1 which is said to be a more serious form of the disorder Speaking to midday Mihir who works for a software company said Teera was born a happy and cheerful baby As weeks went by we noticed she was having heavy breathing patterns and it would also take a long time to feed her Very soon she developed multiple issues like severe dehydration heavy breathing choking on feeds etc and we finally found a doctor in our area who recommended we start bottle feedingOn the day of her vaccination September 30 her doctor noticed that she was choking on her first drops of vaccine She was also not being able to resist with her hands and the right leg wasnt moving Mihir recalledThe doctor referred us to a paediatric neurologist who mentioned that Teera might have hypotonia slow reflexes paradoxical respiration and a weak cry Following her EMG and genetic test we got to know that she is suffering from SMA Type 1 The next shock was the cost of the drug which needs to be imported from the United States Teera needs it before she turns six months old the golden period to save her We started doing a bit of research on the disorder and found out about some foreign nationals who have written positively about the treatment and how they could crowd fund such a large sum by registering on a similar platform added MihirWe registered our daughters details with crowd funding platform Impact Guru and in less than a month 8187 donors contributed nearly 236 crore said the couple Mihir further said Our consulting paediatric neurologist Dr Neelu Desai has already registered Teera for the Switzerland HQ Novartis pharma company global lottery where selected registered patients get the drug free of cost Just three weeks ago Teera had to be rushed to Holy Spirit hospital in Andheri East as she got choked during her feed and turned pale She had to be kept at the hospital for the next couple of days her father saidSMA Type 1SMA is a progressive rare genetic disease that is caused by missing genes or those that dont work properly which might be survival motor neuron 1 SMN1 This gene is basically the blueprint responsible for making a protein required for the survival of the spinal nerve cells Without this SMN gene the cells in the body start to die and motor neuron cells become weaker thus causing muscle weakness in every part of the body below the neckFundraising initiativePiyush Jain cofounder and CEO of ImpactGurucom said In one month 8187 donors have contributed 236 crore This is Impact Gurus highest single fundraiser Among the donors is a noted Bollywood actor who donated 5 lakh We are currently working towards ensuring the target is met by all meansRare disorderDr Neelu DesaiDr Desai said Teera is one of the youngest patients Im treating at the moment If she doesnt get the special gene therapy then she might survive for about two years Until last five years there was no treatment for SMA but now we have gene therapy for which Teera has been registeredShe further said This is a rarest of rare disorder 1 in 5000 infants suffer from it world over In case a baby does not develop proper motor skills or hisher body feels very soft then parents should consult paediatricians Parents who have a child with SMA have 25 per cent chances of the same disorder developing in the subsequent pregnancies which can be confirmed in the first few months by doing a genetic testLink to the fundraiser httpswwwimpactgurucomfundraiserdonatetoteeraKeep 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 MidDay is now on Telegram Click here to join our channel middayinfomedialtd and stay updated with the latest news