20,000 children are born with rare blood disorders in Pakistan each year
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 at a local hotel, National Institute of Blood Diseases (NIBD) Head Tahir Shamsi urged the federal and provincial governments to set up facilities for screening children suffering from Lysosomal Storage Diseases (LSDs), 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 could 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 making the patients’ lives more comfortable. Centers should also be set up for diagnosing these disorders during pregnancy so as to limit the number of affected infants being born with the disease.
Lahore Children Hospital Pediatrics Gastroenterology Hepatology Dept Head Prof Huma Akbar Cheema said the government should work out a scheme to provide free treatment for such patients, as the number of cases with such disorders was few and manageable.
She explained that LSDs were a group of genetic disorder caused by defect in special enzymes that were 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 was not affordable for many parents in Pakistan and due to lack of awareness diagnosis was often late and affected children died 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 ranging Rs 12,000 – 15000 per test and reports were received in 3-4 months time. 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, 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 pediatrician Prof Ayesha Mehnaz said treatment of these diseases changed outcome from miserable death to a near normal life but it was expensive. He said these children needed coordinated efforts from all stakeholders (Doctors, govt, NGOs/philanthropists, patient’s families, pharmaceutical companies and patients support societies) to combat with LSDs.
