Renowned medical experts on Wednesday urged the president, prime minister and the governors, chief ministers and health ministers of all the four provinces to support patients suffering from rare diseases by providing funds so that they could lead a normal life.
The demand was made by Professor Tahir A. Shamsi, Dr Saqib Ansari, Dr Bushra Afroze, Dr Anny Hanifa, Professor Aisha Mehnaz and Dr Uzma Zaidi at a seminar held to create awareness about rare diseases in Pakistan at Karachi National Institute of Blood Diseases (NIBD). The panel of doctors also emphasised the need for developing laws to make sure that some genetic test must be performed before marriages.
According to the doctors, more than 100 patients are likely to be affected, each year, by treatable Lysosomal Storage Disorders (LSDs). Moreover, it is estimated that more than 50 children have been diagnosed in the last eight months with the LSDs, they added. Giving an overview of the rare diseases, NIBD's medical director Professor Tahir Shamsi said: "A disease is considered rare if it affects a small percentage of population."
"The Lysosomal Storage Disorders (LSDs) is one such group of rare diseases. Although individually rare, collectively LSDs affect one in 10,000 infants at birth. However, in Pakistan their frequency is expected to be higher due to consanguineous marriages in many communities, Professor Shamsi opined. Elaborating, he said that the LSD is a group of around 45 rare and genetic disorders and there is a defect in the enzymes that are required to break down certain waste products in the body. As these enzymes are found in a compartment of the cell called lysosomes, hence the name given to these disorders is LSDs. As a result of the deficiency of the enzyme, various "waste products" inappropriately accumulate in the cell. Over the 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 normal cellular function. Thus the liver, spleen, and bone get enlarged and the skin becomes coarse and, as such, it results in a wide variety of clinical symptoms.
He stressed the need for creating awareness about the diseases among all stakeholders so that new cases of LSDs could be prevented. Speaking at the occasion, leading physician Dr Saqib Ansari said: "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 could get the required treatment and lead a normal life. In Pakistan, 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 make the patients' lives more comfortable, he added.