LAHORE: A panel of local and international medical experts said on Wednesday Pakistan witnessed a surge in the cases of Lysosomal Storage Disorders (LSDs) despite being a curable disease all over the world.

LSDs are a group of more than 50 rare diseases. They affect the lysosome — a structure in your cells that breaks down substances such as proteins, carbohydrates, and old cell parts so the body can recycle them.

People with these disorders miss important enzymes (proteins that speed up reactions in the body). Without those enzymes, the lysosome isn’t able to break down these substances. When that happens, they build up in cells and become toxic. They can damage cells and organs in the body.

The experts suggested that the authorities concerned should come up with a policy to address LSDs and other rare diseases in Pakistan.

They said the availability of the treatment for LSDs patients at the department of gastroenterology and hepatology of the state-run Children’s Hospital Lahore is no less than a blessing.

The Centre of Excellence (CoE) for the treatment of LSDs, the gastroenterology and hepatology of the Children’s Hospital (Lahore) had collaborated with Sanofi Pakistan to bring renowned international experts to Pakistan to address the rising incidence of the disease.Talking to media persons at the Children’s Hospital, the panel of experts elaborated on treatment options, especially in curable rare diseases.

Those present on the occasion included Prof Huma Arshad Cheema, head of Department of Gastroenterology & Hepatology, Prof Timothy M. Cox, director of Research, Consultant Internal Medicine, Emeritus Professor of Medicine, University of Cambridge UK, Tanya Collin-Histed, CEO, International Gaucher Alliance (IGA) UK, Atif Qureshi, president Lysosomal Storage Disorders (LSD) Society Pakistan and Laila Khan, director (External Affairs) Sanofi-aventis Limited.

“LSDs are a group of rare inherited metabolic disorders and the children born of marriages within the family are at risk of these genetic diseases,” said Prof Huma.

She said according to the registry at Children’s Hospital, over 900 patients of various lysosomal storage disorders were diagnosed over the past six years.

Out of these, 319 patients had Gaucher disease which is curable, she said adding that international donors were funding for the treatment of 56 patients, the Punjab government 23, Pakistan Army three and the Sindh government was supporting for the treatment of two patients.

Prof Huma said Sanofi Genzyme had been providing free of cost treatment to 18 LSD patients in Pakistan under “charitable access programme” while donating an amount of Rs300 million every year.

“Despite all efforts, 32 children have died during the last 12 months due to lack of highly expensive treatment,” Dr Huma said.

On the occasion, Tanya Collin-Histed said majority of LSD patients diagnosed in Pakistan are of Gaucher disease.

Published in Dawn, January 30th, 2020