Urgent laws for genotype tests needed

Babies are the wealth of all parents and every parent wants to do all that they can for their children. But here in Pakistan, some parents are so ill-fated that they can’t help but see their children die in their hands. These are the parents whose children are suffering from Gaucher’s disease.

These parents are urging the government to make laws for genotype tests before marriages and allocate funds for the treatment and setting up of research laboratories to deal with Gaucher’s disease.

Anwar Ali from Gujrat and father of an ailing child has already lost four children to the disease, which causes fat to accumulate in cells and certain organs and is characterised by bruising, fatigue, anemia, low blood platelets and enlargement of the liver and spleen. He told journalists that there is no laboratory to diagnose this disease in Pakistan. His first son died when he was just 30 months old, but no doctor in Pakistan could ascertain this malady, he claimed. When the same symptoms appeared in his second son, he got very worried. A doctor advised him to get tests done from abroad. Following this advice, he sold some household items and got the tests conducted from India. His son was diagnosed with Gaucher’s disease. “Unfortunately, my second son also died in his third year and then my third and fourth daughter also died,” Anwar said.

Gaucher’s disease is a rare and inherited disorder due to the deficiency of an enzyme called glucocerebrosidase. The most severe type of disease is called the perinatal lethal form, which can cause life-threatening complications even before birth. The real dilemma is that most doctors in Pakistan are unaware about this disorder, which causes a delay in its diagnosis. In addition, there is no lab in Pakistan to test this disease and samples have to be sent abroad for testing. This is expensive and far beyond the reach of the common man’s pocket.

The wounds of parents like Anwar will never heal. But before more people are added to this list, the government and the social sector must take a serious note of this. Experts say comprehensive legislation mandating tests before marriages and its strict implementation can help avoid these problems in newborns. Medical experts say that though the number of people suffering from this ailment is quite less, it could increase over time if the rate of cousin marriages persists without genotype tests.

Published in The Express Tribune, March 12^th, 2014.