To Save 11 Year old Boy Arit with Genetic Disorder SMA2 Crowdfunding only can bring Roche’s Risdiplam – Evrysdi

Spinal Muscular Atrophy (SMA) is a serious, progressively fatal neuromuscular disorder affecting around one in every 10,000 infants, the main genetic cause of child mortality. SMA is caused by a Survival Motor Neuron 1 (SMN1) gene mutation, which results in SMN protein deficiency. There are five types of SMA - 0, 1, 2, 3, and 4 which is based on the age that symptoms begin and the highest physical milestone achieved. Even within each type, abilities can vary from person-to-person.

SMA2 is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems also develop. SMA2 is caused by changes (pathogenic variants also called mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months.

Until now, SMA in India was curable only with the two most expensive and imported gene therapies Spinraza and Zolgensma from Biogen-Ionis and Novartis. Treatment for SMA costs over Rs 16-18 crore in India. Evrysdi more popularly known as risdiplam is the first and only oral medication indicated for the treatment of SMA in patients of two months of age and older. The drug was developed by Genentech, a member of the Roche Group, in partnership with SMA Foundation and PTC Therapeutics.

Cheery boy Arit loves to read the short stories of Ruskin Bond and also about Stephen Hawking. He loves to watch science fiction movies too. Right at infancy, Arit’s parents noticed a strange behavior of him. He repeatedly vomited all the milk that he drank. He could not swallow food. He had breathing troubles too. Concerned, the parents ran to a pediatrician, but their fears and worries were put to rest saying, “At times kids are late-walkers, there’s nothing to be worried about, it is normal.”

After many visits to various renowned hospitals all over the country right from NIMHANS, Bangalore to Sir Gangaram Hospital, New Delhi, down the road the parents came to realize that what ailed the child wasn’t ‘Normal’ at all. On the contrary, it was a rare genetic disorder that had been dubbed as the “Baby Killer”. Arit was diagnosed with Spinal Muscular Atrophy (SMA) Type 2. The disease is progressive and has destroyed Arit’s motor neurons leaving him unable to live his childhood. He has been unable to reach his developmental milestones.

Rahul Srivastava, Arit’s father says “For his entire existence, Arit has been put through rigorous physiotherapy in the hope that he could survive. However, my son does not know even the joy of walking in his life”. Dr. Anupriya Roy Srivastava, Arit’s mother who is presently faculty at Banasthali Vidyapith, Rajasthan says “I teach English, but I have no words to express the sufferings of my beloved son Arit and I have Miles to go before I sleep”

After 11 years of waiting with despair, the Srivastava family found the end of a long and arduous tunnel. The life-saving syrup, Risdiplam, a miracle treatment for SMA, was finally approved in India. The parents thought that Arit’s combat with SMA will come to an end. Arit will be able to walk, jump, run, and fly. But their happiness was short-lived as Risdiplam, a gene therapy drug designed to fight SMA costs nearly 16 crores. For initial treatment of 5 years, the family needs Rs. 4 crores which is an insurmountable amount of money.

The family’s last dregs of hope are pinned onto the fundraising campaign on ImpactGuru platform. Presently, Arit is studying in class 5 and enrolled at Dr K N Modi Global School Newai. Despite scoliosis (sideways curvature of the spine), physical deformity, chronic breathing trouble which are part of Spinal Muscular Atrophy, he is consistently doing well in his studies. If given a chance to live life, Arit can undoubtedly be an asset to this country in posterity.

Arit’s parents Rahul and Anupriya have launched a campaign through ImpactGuru which is India's Fastest Medical Crowdfunding Platform covering Donations from 165+ countries raising 1500+ at 0% fee. This appeal is made to all large-hearted individuals to come forward to donate and share the message with their near and dear. Himadri Tewari childhood friend of Anupriya Roy has also launched a campaign through GoFundMe for raising funds to save Arit.

Fundraiser Platform (Impact Guru Link):
https://www.impactguru.com/fundraiser/help-arit-srivastava

Fundraiser Platform (GoFundMe Link):
https://gofund.me/f6e83b23

Dr. BR Natarajan
1913 Neu Gautam Budh
Banasthali Vidyapith 304022 Rajasthan
Telefon +91 9799476406

Email: aritfightssma@gmail.com
Facebook Page: Arit Fights SMA
Instagram: aritfightssma
Twitter: AritFightsSMA

SMA Chronicle highlights children suffering from this rare genetic disorder and help the parents raise money for treatment through crowdfunding.

This release was published on openPR.