World’s costliest injection not enough as one-year-old Vedika loses battle to rare genetic disease

Pune, Aug 03: A one-year-old girl Vedika Sourabh Shinde's fight against a rare genetic disorder, which had evoked an outpouring of sympathy as well as donations so that doctors could administer her an injection worth Rs 16 crore in a Pune hospital, died Sunday evening at Dinanath Mangeshkar Hospital.

Shockingly hours before the death of Vedika Shinde, her family members had uploaded photographs and videos on social media informing about her progress.

Vedika, suffering from Spinal Muscular Atrophy (SMA) Type I, died around 6 pm on Sunday at a private hospital in Bhosari in the Pimpri Chinchwad area after experiencing breathing trouble while she was at home.

Her rare ailment and the quest for treatment had created a huge impact on social media with netizens and others donating an amount of Rs 14 crore, following which she was administered the vital injection in Deenanath Mangeshkar Hospital here in June.

According to Vedika's kin, her condition was improving of late and some hours before her death, they had even uploaded a couple of photographs and videos on social media to inform about her progress.

A doctor who had earlier treated her at Deenanath Mangeshkar Hospital said Vedika died due to "feed aspiration", a medical term for an irregularity arising in the feeding process.

What is Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).

Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don't receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they're not stimulated by nerve cells.

SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.

In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms, and rate of progression. In order to account for these differences, chromosome 5-related SMA, which often is autosomal recessive, is classified into types 1 through 4.

The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected: The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). Later-onset SMA with a less severe course (types 2 and 3, and in teens or adults, type 4) generally correlates with increasingly higher levels of motor function.

What causes SMA?

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for "survival of motor neuron." This protein, as its name implies, seems to be necessary for normal motor neuron function. SMN plays a pivotal role in gene expression in motor neurons. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. The most common mutation in the SMN1 gene within patients diagnosed with SMA is a deletion of a whole segment, called exon 7.1 Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes as there is 99% identity between these two genes.2

Other rare forms of SMA (non-chromosome 5) are caused by mutations in genes other than SMN