Aarav Sharma is a cheerful little boy who loves to play chess with his parents. When I met the six-year-old, at his home in suburban Mumbai, he was playing with Lego blocks, creating and recreating. He told me that he loved to draw and paint with his new set of crayons and felt-tip pens. In his school uniform, a white tee with a colourful bumblebee print, and red short pants, he was like any other boy of his age, except that his body was in crutch-braces from neck to toe. He used them while standing, walking, and even as he would sit; each time, every time. “It stays with him throughout, and helps him support and balance his body so that he doesn’t fall,” says his soft-spoken mother, Alpana Sharma.
Aarav suffers from spinal muscular atrophy (SMA) type 2, a rare genetic and progressively degenerative disease. The worst fears of his parents are that in a few years, the disease might affect their son’s spinal motor nerve cells, and rob him off his ability to not just walk, but also to eat on his own and even breathe. SMA mainly develops in children between ages 6 to12 months, and the affected children, even though they can sit without support until their teens, cannot stand or walk unaided. As Aarav undergoes his numerous therapies, including the chest nebulisation therapy twice a day, Alpana looks at me and says, “I must have asked the universe a million times, why us? We haven’t done anything wrong.”
“Nobody is to blame for these diseases, especially since these disorders are essentially the result of mutations in certain specific genes, and the occurrence of these gene mutations is an event beyond human control,” says Dr Mamta Murunjan, clinical geneticist, KEM Hospital and Hinduja Hospital, Mumbai. “SMA is the result of a mutation of the Survival Motor Neuron Gene 1 (SMN1). A gene mutation is a permanent alteration in the DNA sequence that makes up the gene, such that the sequence differs from what is commonly found in normal people. Each of the parents usually carries one mutated copy of the gene, and are referred to as carriers. When two carriers have a child, there is a chance of the child either having SMA or of being a carrier. Each child has a 25 percent chance to have the condition, 50 percent chance to be a carrier like each of the parents, and 25 percent chance to not have the condition or be a carrier,” she explains.
Click here to read more.
