LAHORE: A penal of experts at a workshop appealed to the prime minister and chief ministers of the provinces on Friday to extend financial support to the minor patients suffering from a rare disease to prevent them from miserable deaths.
At an awareness workshop on lysosomal storage disorder (LSD) disease at Children’s Hospital on Friday, they said the treatment of the disease was costly and beyond the financial capacity of the 75 patients registered with the Department of Pediatric Gastroenterology Hepatology of Children’s Hospital, Lahore.
The Pakistan Pediatric Association-Gastroenterology Hepatology Group organised the workshop, addressed by the panel of experts and members of LSD core committee. They included Prof Dr Aisha Mehnaz, Prof Dr Akbar Nizamani, Prof Waqar Rabbani, Dr Hani Akbar Rao, Prof Dr Hameed, Prof Dr Dilshad Qureshi, Prof Dr Agha Shabbir and Prof Shazia Maqbool. Patients and their parents were also present.
Group chairperson Prof Huma Arshad Cheema demanded that the government set up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to making the patients’ lives more comfortable.
“The government should also ensure that enzyme therapies are made available for the treatment of the patients, so that they may lead a normal life,” Prof Huma said
She said the families of LSD patients were desperately trying to reach out to the government and other institutions for support.
She demanded centers be set up to diagnose such disorders during pregnancy so as to limit the number of affected children. The pressing need, however, was that the government provide free treatment for such patients, as the number of cases with such disorders was few and manageable, Dr Huma said.
She said the department of pediatric gastroenterology had data on LSD since the inception of the project in 2013 and had always been on the forefront in raising awareness through the media, workshops, and invoking national and international forums advocating the rights of children.
“The available treatment is beyond the affording power of many parents in Pakistan,” says a statement issued by the panel of speakers.
“People living with lysosomal storage diseases often display unusual courage, tenacity, and grace in dealing with extraordinary challenges thrown up by their disease.”
They suggested the government support the patients by creating special funds or through existing funds like Baitul Maal.
They say the LSD is a group of genetic disorder caused by defect in special enzymes required to break down certain waste products in the body.
This defect leads to interference with the normal cellular function resulting in a wide variety of symptoms like enlarged livers, massively enlarged spleen, need for frequent blood transfusions, bony changes, central nervous system manifestations and recurrent chest infections etc.
The age of presentation and severity of disease vary according to the type of LSD; most of the victims are under one year of age. Due to lack of awareness diagnosis is often late and the affected children die at young age.
The experts concluded that these children need coordinated efforts from all stakeholders, including doctors, government, NGOs/philanthropists, patients’ families, and pharmaceutical companies to combat LSDs.
Published in Dawn, February 28th, 2015