Experts call on govt to work for diagnosis, treatment of metabolic diseases

Karachi
Senior paediatricians, haematologists and health experts urged the federal and provincial governments on Wednesday to establish a laboratory for testing metabolic diseases and taking stock of the country’s “orphaned” drug policy.
They said support for patients suffering from rare genetic blood disorders and treatment was beyond the reach of most Pakistanis.
According to the panel of experts, who included Prof Dr Tahir A Shamsi, Dr Saqib Ansari, Dr Bushra Afroze, Dr Anny Hanifa, Prof Dr Aisha Mehnaz and Dr Uzma Zaidi, there wasn’t any data or disease registry in Pakistan but independent estimates suggested that more than 100 people were likely to be affected every year by treatable Lysosomal Storage Disorders (LSDs).
“In the past eight months, more than 50 children have been diagnosed with treatable LSDs,” they said, while speaking at a seminar on awareness for the prevention of rare diseases held at the National Institute of Blood Diseases (NIBD).
Moreover, they also recommended genetic devising laws to make genetic screening compulsory before marriage.
Giving an overview of LSDs, NIBD’s medical director Prof Dr Tahir Shamsi said it was a group of rare diseases, which affected one out of 10,000 infants at birth. “But in Pakistan, the frequency is expected to be higher due to consanguineous marriages in many communities,” he said.
He said LSDs were a group of 45 genetic disorders which caused production of defective enzymes required to break down certain waste products in the body.
“Since these enzymes are found in part of the cell called lysosomes, the name given to these disorders is LSDs. As a result of the deficiency, various waste products inappropriately accumulate in the cell. As the amount of toxic products increases in the cells with time, it causes them to swell, leading to interference with normal cellular function. This results in the enlargement of the liver, spleen and bones and the skin too becomes coarse, besides other clinical symptoms.”
Speaking on the occasion, leading haematologist and bone marrow transplant physician Dr Saqib Ansari said the government must set up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy and rehabilitation of the patients.
He also called for creating centres for diagnosing these disorders during pregnancy so limit the number of infants being born with the disease.
However, he said, the immediate and pressing need was that the government should work out a scheme to provide free treatment for such patients since the number of cases with such disorders was few and manageable.
He said LSDs mostly affected children and due to lack of awareness the illness was most often diagnosed in when it was in its later stages. “Around 30 percent of the affected children die at a young age,” said Dr Ansari. “Many a times a child dies of LSD before a correct diagnosis could be made.”
In the US, Europe, Japan, he said, governments supported programmes and provided help to the affected families to avail free treatment and medication. “This is often done through health insurance or special funds,” he said. “But in Pakistan health insurance companies did not reimburse the cost of treatment of these disorders, nor were there any government funds for their management. The government should ensure enzyme therapies are made available for the treatment of affected children, so that they may lead as normal a life as possible and contribute to the welfare of the country as responsible citizens.”
Other speakers said the available enzyme therapies were too expensive for the common people and called on the government and other independent stakeholders to create a special fund for the diagnosis and treatment of people and children with LSD.