Daily Times

KARACHI: Health experts on Saturday said that the available treatment options for Lysosomal Storage Disorder (LSD) were beyond the reach of many affected people in the country.

They urged the government to devise a programme through which those diagnosed with the disorder could afford treatment facilities

These suggestions were made during an awareness raising seminar on the Lysosomal Storage Disorder (LSD) at local hotel in Karachi. The event was organized by National Institute of Blood Diseases (NIBD).

LSDs are inherited genetic defects which affect multiple organs and cause progressive physical or mental deterioration over time. Some patients survive into adulthood, but others with more severe symptoms may die in their teens, or earlier.

The delay in treatment leads to bleeding from nose and abnormal enlargement of some body organs which later results in death.

LSDs are a group of more than 50 rare diseases. They affect the lysosome, a structure in cells that breaks down substances such as proteins, carbohydrates, and old cell parts so the body can recycle them. People with these disorders are missing important enzymes (proteins that speed up reactions in the body). Without those enzymes, the lysosome isn’t able to break down these substances.

Interfamily marriages could be a major cause of LSDs.

According to some estimates, every year more than 250 children are diagnosed with the disorder in Pakistan. Previously, it was challenging to diagnose LSD in Pakistan and the samples had to be sent to the US, the UK, Germany, Australia and India and the reports received after three to four months.

“Now, free testing facilities are available at major teaching hospitals at Karachi, Lahore, Islamabad and Multan,” experts said, while urging the government to set up more facilities for screening, early and accurate diagnosis, appropriate enzyme therapy and rehabilitation of the LSD patients.

Experts in the seminar urged the government to develop a policy for expanding treatment options for LSD patients.

Speaking at the occasion, renowned hematologist Professor Dr Tahir Shamsi said that family members of LSD patients around the country are trying to reach out to the government institutions for their support so that their children can get the required treatment and can lead a normal life.

He suggested that centers should also be created for diagnosing these disorders during pregnancy so as to limit the number of affected infants being born with the disease.

“The immediate and pressing need however is that the government should work out a scheme to provide free treatment for such patients, as the number of cases with such disorders is few and manageable,” Dr Shamsi opined.

Speakers including Dr Hania Akbar Rao, Professor Huma Akbar Cheema, Professor Ayesha Mehnaz and others also demanded the government to set up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy and rehabilitation.

The government should also ensure that enzyme therapies are made available for the treatment of affected children, so that they may lead as normal a life as possible, and contribute to the welfare of the country as responsible citizens, they said.

Published in Daily Times, February  25^th 2018.