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A new therapy for Spinal Muscular Atrophy (SMN 1) offers hope to Indian patients

#miracleshappen #rarewarrior #ordi #careforrare #sma #genetictesting #geneticdisorders #Nusinersen


Advanced medicine and science together does make miracles happen for patients with rare genetic disease. Two Kolkata Brothers with Spinal Muscular Atrophy find hope with in a new therapy that is nothing short of miracle. Here's the story.


About a year ago I had received a call from a distressed woman , Sunitha , she was pregnant , her problem was that her husband and her brother in law had progressive neuromotor issues which was undiagnosed. She was extremely anxious if her baby would have similar problems. She had connected with ORDI Prasanna Shirol in search for an answer and treatment options for her husband and brother in law.


They had been all over India ( not on the right places ) and the elder brother also had done stem cell transfer in suspicion of a muscular dystrophy without any real neurological or genetic work up.


I had consulted them through a video call and I had suspected SMA. The diagnosis was correct with the genetic report to confirm . We tested Sunitha and as she had both normal copied and no other mutation in SMN 1 , w e could give her an answer that her baby was safe. With the help of ORDI we referred them to Dr. ANN Mathew at Baptist Hospital , Bangalore. She applied for their drug . For people who are not aware this drug costs 16 crore . This is also one of the Pre mi RNA splicing drug available that is akin to gene therapy. After waiting few months we got the good news that the younger brother was approved through compassionate action programme and would receive this free of cost.


After 21 yrs the brothers had got a diagnosis the younger one a chance at life , and a baby who was healthy . We are hopeful that soon the elder brother would also be eligible.


This is a real life story which I had to share as the family as I am equally excited with them. The fight continues and so the hope. One day no child will be left behind and we will be able to win this battle against the aberrant Gene's!!!

Super excited that a diagnosis and proper follow up has changed the life of a family. Hoping to deliver more smiles.

My sincere gratitude to Mr.Prasanna Shirol , ORDI team members and Dr.Ann along with her wonderful team members







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