Healthcare for all: ‘More than 100 people become vulnerable to LSDs each year’

Medical experts call for funds for rare diseases treatment.

KARACHI: More than 100 people are likely to be affected every year by treatable Lysosomal Storage Disorders (LSDs).

It is estimated that more than 50 children have been diagnosed in Pakistan in the last eight months with LSDs that can be treated, disclosed leading haematologist and bone marrow transplant physician, Dr Saqib Ansari.

A panel of medical experts urged upon the government to support patients suffering from rare diseases by providing funds for diagnosis and treatment. During the seminar, titled 'Rare Diseases in Pakistan', at the National Institute of Blood Diseases (NIBD) on Wednesday, doctors urged the need to develop laws to make sure that a genetic test be performed before marriage. They suggested that the development of a genetic lab for testing metabolic diseases be immediately considered.



Giving an overview of rare diseases, NIBD director Prof Tahir Shamsi explained the concept of a rare disease. "A disease is considered rare if it affects a small percentage of population," he said, adding that the precise definition varies in different countries, with one in 1,500 in the United States, one in 2,000 in Europe and one in 2,500 in Japan. "Based on these calculations, there are large numbers of suspected cases of LSDs in Pakistan."

The LSDs are one such group of rare diseases. "Although individually rare, LSDs collectively affect one in 10,000 infants at birth," he said. "In Pakistan, their frequency is expected to be higher due to consanguineous marriages in many communities."

What are LSDs?

The LSDs are a group of around 45 rare genetic disorders in which there is a defect in the enzymes that are required to break down certain waste products in the body. The disorder has been named after the lysosomes, which are sacs of enzymes in a cell. As a result of the defective enzymes, various 'waste products' inappropriately accumulate in the cell.

Over time, the amount of material building up in each lysosome causes it to swell and occupy more space in the cell, leading to interference with the normal cellular function. As a result, the liver, spleen and bone get enlarged and the skin becomes coarse. Subsequently, a variety of clinical symptoms emerge.

People living with LSDs often display unusual courage, tenacity and grace in dealing with extraordinary challenges thrown at them by their disease.

Treatment

Ansari said that the LSDs mostly affect children. Due to lack of awareness, they are diagnosed quite late. Almost 30 per cent of the affected children die at a young age. Many times, it is due to lack of awareness that children die before they are diagnosed.

The available treatment is beyond the affordable grasp of many parents in Pakistan. According to Ansari, the government must play a major role. "Family members of LSD patients around the country are trying to reach out to the government and other institutions for their support so that their children get the required treatment."

He said that major support has to come from the government, which should set up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy and rehabilitation to help make the patients' lives more comfortable.

Published in The Express Tribune, February 26^th, 2015.