20,000 children born with rare blood disorders in Pakistan each year

KARACHI: Health Experts on Saturday revealed that an estimated 20,000 children are born with rare blood disorders in Pakistan every year and urged the federal government to allocate special funds for screening, accurate diagnosis and rehabilitation to making the patients’ lives more comfortable.

Speaking to the media persons at local hotel, Head of National Institute of Blood Diseases (NIBD) & Consultant Haematologist, Prof Tahir Shamsi, urged the federal and provincial governments to set up facilities for screening children suffering blood disorders, early and accurate diagnosis and appropriate enzyme therapy.

He 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 get the required treatment and can 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 making the patients’ lives more comfortable. 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.

Head of Paediatrics Gastroenterology Hepatology Dept, Children Hospital, Lahore, Prof Huma Akbar Cheema, said 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.

She explained that LSDs are group of genetic disorder 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

Dr Cheema said available treatment is beyond the affording power of many parents in Pakistan and due to lack of awareness diagnosis is often late and affected children die at young age.

The previously it was challenging to diagnose LSDs as sample had to be sent to UK, USA, Germany, Australia, and India at a cost ranging 12,000- 15000 PKR per test and reports were received in 3-4months times. But now the Lab investigations is being supported free of cost by Sanofi Genzyme, one of the pioneer in the treatment of LSDs.

In Pakistan, an estimated more than 100 patients are likely to be affected every year by treatable LSDs, in terms of actual numbers, as per the registry of Children’s Hospital Lahore, more than 350 patients have been diagnosed with treatable LSDs most commonly Gaucher Disease followed by MPS 1. Around 30 patients have lost their lives in the past one year.

In Karachi only, more than 50 patients have been diagnosed till date and around seven patients have lost their lives in past one year

Consultant Paediatricians, Prof Ayesha Mehnaz, said treatment of these diseases changes outcome from miserable death to a near normal life but it is expensive. He said these children need coordinated efforts from all stakeholders (Doctors, Govt, NGOs/Philanthropists, Patient’s families, Pharmaceutical companies and Patient support societies) to combat against LSDs. (Ends)

The Lysosomal Storage Disorders Core Committee and the panel of experts 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.

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