LAHORE: The Punjab government has abandoned more than 50 baby patients living with a very rare and life-threatening disease - Lysosomal Storage Disorders – (LSDs), leaving them at the mercy of foreign charity organisations.

The government picked up only one baby out of the total 52 critically ill patients registered for the treatment of the disease in the province, showing total indifference to the outcries of their parents. However, it promised to extend treatment for a period of one year, an official privy to the development told Dawn.

He said the neglected babies required huge amounts for their treatment to get a new lease of life.

As the treatment cost for the patients with LSDs is said to be beyond the reach of the patients, more than 25 babies have succumbed to the ailment during last few years because their parents could not afford the treatment costs which ranged from Rs500,000 to Rs600,000 per month, he said. The medicine was prescribed to every LSDs patient for life-time use.

A real estate tycoon adopted two children for free treatment, he said, adding that the businessman pledged life-long treatment of the sick babies, besides promising to adopt more patients soon when he was told that uninterrupted treatment was a must for all of them.

The department of pediatric gastroenterology of Children’s Hospital Lahore was the only public sector institute in Pakistan which held the national data registry of LSDs patients since the inception of this project in 2013, he said.

“The hospital has so far registered 75 patients living with LSDs from all over the country, including 52 from Punjab”, Pakistan Pediatric Association Gastroenterology Hepatology Group Chairperson Prof Dr Huma Arshad Cheema told Dawn. She confirmed Punjab government had approved case of one baby out of the total 52 diagnosed with the disorder all over the province so far.

According to medical experts, the LSDs, also known as Gaucher disease, is an inherited condition that affects many of the body’s organs and tissues. They say the symptoms of this condition range from mild to severe and may appear at any age from childhood to adulthood.

Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities, such as bone pain, fractures and arthritis. In addition to these symptoms, the condition can also cause abnormal eye movements, seizures and brain damage, besides harm to the central nervous system.

One of the major factors behind this inherited disease is said to be the first-cousin or caste marriages.

Prof Huma said out of the total registered patients, majority of cases were reported under two-year age while the others were under-five.

She said all the children living with LSDs were vulnerable to serious complications and their lives were under constant threat due to limited resources of their families. “Due to lack of diagnosis and treatment of the disease in Pakistan, more than two dozen children have died during the last few years”, she said.

She said the US and UK charity organisations shortlisted 12 Pakistani babies out of the total 72 to bear their treatment expenses, while the rest were awaiting philanthropists within the country.

Prof Huma said the European Gaucher Alliance has declared the pediatric gastroenterology department of the Children’s Hospital a centre of excellent to enhance collaboration for the uninterrupted treatment of the affected children.

She, however, regretted the lives of more than 50 kids were still at grave risk, as their families could not afford expensive treatment.

She said there was absolutely no facility to diagnose LSDs in Pakistan. “The diagnosis of LSDs has been a challenging task from the day one as the sample of the patient has to be sent to the UK, US, Germany, Australia or India with per test cost ranging from Rs12,000 to Rs15,000 and the reports are received after four months period” , Prof Huma said.

On finding no response from the government functionaries to this critical situation, an American biotechnology company, Genzyme, offered free lab investigations to the children, which really was a boon for them.

“Each LSD-hit baby needs a dose of 40-60 units (per kg of the wait) of the life-saving drug every two weeks to survive”, Dr Huma Cheema said, adding that in case of failure of the medication for some weeks the various organs of the patient start bleeding, ultimately leading to his/her death.

To a question, she said the pharmaceutical company that was providing medicines to the Children’s Hospital was bearing expenses incurred on the lab investigations of the child patients.

She said Pakistan Pediatric Association Gastroenterology Hepatology Group was organising a workshop at the Children’s Hospital with the coordination of the Genzyme to sensitise the stakeholders about seriousness of the issue and importance of timely treatment that could save the patients lives.

Published in Dawn, February 26th, 2015

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