20,000 children suffer rare blood disorders every year

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20,000 children suffer rare blood disorders every year

Core Committee Members and health experts of Lysosomal Storage Disorders have said that an estimated 20,000 children were born with rare blood disorders in Pakistan every year. They have requested President, Prime Minister, Governors, Chief Ministers and Health Ministers to support the patients of LSDs by providing the funds so that these victims can lead a normal life. They expressed these views at an awareness seminar on Lysosomal Storage Disorder (LSD) in Karachi.

Prof. Tahir Shamsi, Consultant Haematologist & Head of National Institute of Blood Diseases (NIBD) urged the federal and provincial governments to set up facilities for screening children suffering from blood disorders. He said that 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 can get the required treatment and lead a normal life.”

He said 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. Centres should also be created to diagnose these disorders during pregnancy so as to limit the number of affected infants being born with the disease.

Prof. Huma Akbar Cheema from Children’s Hospital in Lahore said the government should work out a scheme to provide free treatment to such patients, as the number of cases with such disorders is few and manageable. She explained that LSDs are groups of genetic disorders caused by defect in special enzymes that are required to break down certain waste products in the body. This defect leads to interference with the normal cellular function. This results in wide variety of symptoms like enlarged livers, massively enlarged spleen, need for frequent blood transfusions, bony changes, CNS manifestations and recurrent chest infections.

She said available treatment is beyond the affording power of many parents in Pakistan and due to a lack of awareness diagnosis is often late and affected children die at young age. Previously it was challenging to diagnose LSDs as sample had to be sent to UK, USA, Germany, Australia, and India at a cost of Rs12,000-15,000 per test and reports were received in 3-4 months. But now the lab investigations are being supported free of cost by Sanofi Genzyme, one of the pioneer in the treatment of LSDs.