E-Paper
Bound to witness their children?s death due to genetic disorder
The dreams which Rubina and her husband Shazad saw for their children came to an abrupt end after the doctors diagnosed their three sons suffering from rare and incurable Duchenne Muscular Dystrophy (DMD)-- a genetic disorder transmitted from family to family or by mutation.
The dreams which Rubina and her husband Shazad saw for their children came to an abrupt end after the doctors diagnosed their three sons suffering from rare and incurable Duchenne Muscular Dystrophy (DMD)-- a genetic disorder transmitted from family to family or by mutation.
Rubina had a family history of muscular dystrophy and her 25-year-old brother also died of the same disease. But despite the fact, when Rubina became pregnant the doctors failed to diagnose the traits of DMD in the foetus and she gave birth to her first child with DMD complications. And now, all couple can do is to painfully witness the slow death of their children.
The tragedy struck the couple about 12 years back when their eldest son Raju suddenly felt difficulty in standing straight and walking and within five years he became totally bed-ridden. By the time the doctors diagnosed the disease in six-year-old Raju, Rubina gave birth to two more babies with the same complications.
After visiting several doctors in the city including senior paediatrician Dr SAM Meesum, Shazad consulted experts at the SGPGI who also confirmed the DMD in his children. Slowly his other son 15-year-old Golu also developed DMD complications and within months he became totally crippled. About six months back, the couple's youngest son 12-year-old Monu also started feeling difficulty in walking and developed similar problem.
"When the couple brought their eldest son Raju for treatment a few months back, he had already developed secondary complications due to DMD. He was suffering from pulmonary oedema (lungs filled with water) due to heart complications and muscle atrophy. His condition was quite serious and had a very little chance to survive," said senior paediatrician Dr SAM Meesum. Dr Meesum said Rubina had a family history of muscle dystrophy. Although there was 50 per cent chance of having a normal baby, but this could have been possible had it been ascertained by proper screening of foetus and certain tests.
Since these tests were not conducted, the woman gave birth to babies with DMD complications, which has no treatment.
"The DMD is the most common amongst the muscle dystrophy, a genetic disorder. Its classic form occurs in boys only. The mother or father may be the career of the defective X chromosomes. The children with DMD complications become severely incapacitated by the age of 12 and majority of patients have cardiomyopathy by the age of 20. About 75 per cent of them die due to heart failure, pulmonary oedema and respiratory failure,” he added.
