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Jins Antony and Grace Janilet from Ayur in Kerala are in a race against time, seeking a cure for their firstborn, Jion. They are acutely aware that unless medical science expedites its efforts to find a miracle drug for their child’s worsening condition, he will die soon. Jion, 10, suffers from Duchenne muscular dystrophy (DMD), a genetic disorder characterised by progressive muscle degeneration and weakness. “This condition arises due to alterations in a protein called dystrophin, which helps maintain muscle cell integrity,” says Antony, 42, who runs a paint shop. DMD can affect all kinds of muscles, including the diaphragm—the muscular partition separating the thorax from the abdomen, and which aids breathing. And, that makes it fatal. “Currently, there is no definitive cure for this rare disease,” says Antony, adding that time is running out for Jion, “as Indian DMD patients rarely survive beyond 20 years”.
In the past, Jion, like any other kid his age, would run and play around. But these days, he struggles to walk without support. His eyesight, too, has diminished in recent years. At school, while other children play, he sits and watches them. He does not join them for fear of falling and breaking his bones. He still rides his bicycle, but is unsure if he can continue his favourite activity for long.
DMD is caused by a mutation in a gene that encodes the dystrophin protein, and is located in the X chromosome. Since the gene is tied to the X chromosome, DMD usually affects individuals assigned male at birth—since they have XY chromosomes, they receive only one X chromosome from their mothers and therefore have no other functioning gene to compensate.
This story is from the July 07, 2024 edition of THE WEEK India.
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This story is from the July 07, 2024 edition of THE WEEK India.
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