Experts urge coordinated efforts to prevent rare diseases

KARACHI: Renowned Hematologist Dr Saqib Hussain Ansari on Wednesday said incidence of rare disease Lysosomal Storage Disorders (LSDs) is more common in country like Pakistan as compared to developed countries owing to inter-family marriages.

He shared these views while addressing an awareness seminar on topic” Prevention from rare diseases in Pakistan” at National Institute of Blood Diseases & Bone Marrow Transplantation here. Dr Bushra Afroze, Dr Anny Hanifa, Prof Aisha Mehnaz and Dr Uzma Zaidi also addressed the event.

Dr Ansari informed that in the absence of data or disease registry in our country, more than 100 patients are likely to be affected every year by treatable Lysosomal Storage Disorders (LSDs). He said it is estimated that more than 50 children have been diagnosed in last eight months with the LSD. He said LSD is a rare genetic disease that generally occurs among children due to trend of inter-family marriages in the country.

He said disease can include developmental delay, movement disorders, deafness & blindness, livers and cardiac problems in children with LSD. He said Lysosomal storage diseases affect mostly children and they often die at a young.

He said government should set up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to making the patients’ lives with rare diseases more comfortable. He said centers should also be established for diagnosing these disorders during pregnancy so as to limit the number of affected infants being born with the disease.

He stressed the need of proper laws to make sure that some genetic test should be performed before marriages. He said genetic lab should be established in healthcares for testing metabolic diseases in order to begin treatment of patients suffering from any kind rare disease.

Medical Director of NIBD Prof Tahir Shamsi said: “A disease is considered rare if it affects a small percentage of population. The precise definition varies in different countries, from 1 in 1500 in USA, 1 in 2000 in Europe and 1:2500 in Japan. Based on the least of these calculations, there are large numbers of suspected cases of LSDs in Pakistan.”

He said LSDs is one such group of rare diseases. He said although individually rare, collectively lysosomal disorders affect 1 in 10,000 infants at birth. In Pakistan their frequency is expected to be higher due to consanguineous marriages in many communities,” he added.

He revealed that LSDs are a group of around forty five (45) rare, genetic disorders; there is a defect in the enzymes that are required to break down certain waste products in the body.

Dr Shamsi said available treatment with the enzyme is beyond affording power of many parents in Pakistan. He said people living with lysosomal storage diseases often display unusual courage, tenacity, and grace in dealing with extraordinary challenges thrown up by their disease.

He underlined the joint efforts from all stakeholders including doctors, government, NGOs, philanthropists, families, pharmaceutical companies and patient support societies in order to combat LSDs.

Speakers demanded of the President, Prime Minister, Governors, Chief Ministers and Health Ministers to support the patients of rare diseases by providing funds so that these victims can pass a normal life.

The post Experts urge coordinated efforts to prevent rare diseases appeared first on Pakistan Press International.

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