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Insurance companies yet to take into account genetic disorders.

KARACHI -- Despite steady surge in varied genetic disorders in the country the local health insurance companies are yet to take these into account and reimburse the high cost of treatment for such disorders.

Doctors talking to reporter on Wednesday regretted that government funds are also not specifically allocated to manage such diseases including thalassaemia, haemophilia, lysosomal storage disorder, down syndrome etc.

They were of the opinion that the law introduced in the province vis a vis prevention of thalassemia, with pre-marital screening as an essential condition needed to be replicated for all genetic disorders.

"Since these genetic disorder persists in our environments we need to develop a pragmatic approach to help the affectees maintain a life quality," said senior child specialist Dr. Abdul Ghaffar Billo.

With specific reference to Lysosomal Storage Disorders (LSD), a serious and life threatening genetic disorder, he said there were about 45 disorders in the LSDs category.

"In a nutshell inherited genetic defect affects multiple organs and cause progressive physical and/or mental deterioration over time," he said.

"Therapies are available for only 6 LSDs - Gaucher, Pompe, Fabry, Mucopolysaccharidosis (MPS) I (Hurler syndrome), MPS II (Hunter Syndrome) and MPS VI (MaroteauxLamy)," said Prof. Ayesha Mehnaz.

"Enzyme Replacement Therapy (ERT) is the only specific treatment available for some LSDs," she said in reply to a question.

According to available literature consanguineous marriages or marriages between cousins or other close relatives is identified to be the major cause for the condition.

Prof. Ayesha Mehnaz said some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.

About the sudden rise in the number of LSD patients they said it was availability of improved diagnostic facilities at major hospitals of the country.

According to the two doctors since LSDs usually affect young children, therefore there is a time lag before parents realize that something is wrong with their child.

"In some cases, months and years could pass before the child's disease is properly diagnosed," they said mentioning that 30% of the children diagnosed with LSDs die at a young age.
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Publication:The Frontier Star (Northwest Frontier Province, Pakistan)
Date:Mar 20, 2014
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