Genetic disorder caused by defect in special enzymes : Prof Huma Arshad Cheema

Lahore : Department of Pediatric Gastroenterology Hepatology Lahore along with Sanofi Genzyme has organized an awareness workshop on Lysosomal storage disorder on 25^th  March 2017 at Shaukat Raza Khan auditorium at the Children’s hospital and institute of child health, Lahore.

It started with opening lecture by Prof Huma Arshad Cheema, Professor  & Head of Pediatrics Gastroenterology Hepatology Dept.  It was attended by Dr. Hani, General Salman, Dr. Shazia Maqbool, Dr. Aisha Mehnaz along with LSD Core Committee, district pediatricians, Patients of the disease and their parents had an opportunity of interacting with each other.

Lysosomal storage disorders are group of genetic disorder caused by defect in special enzymes that are 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 etc.

Age of presentation and severity of disease vary according to the type of LSD, mostly children present under 1 year of age .Due to lack of awareness diagnosis is often late and affected children die 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 12,000- 15000 PKR per test and reports were received
in 3-4months times. 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, there are large numbers of suspected LSDs cases due to strong trend of interfamily marriages. Every year more 50 children are diagnosed with Lysosomal storage disorders. In Pakistan more than 225 children have been diagnosed having LSDs most commonly Gaucher Disease followed by MPS 1 and Pompe. The available treatment with the enzyme is very expensive and beyond the affording power of many parents in Pakistan. Around 32 Lysosomal Storage Disorder patients died last year b/c of no access to Enzyme Replacement Therapy.

Treatment of these diseases changes outcome from miserable death to a near normal life but it is expensive. These children need coordinated efforts from all stakeholders (Doctors, Govt, NGOs/Philanthropists, Patient’s families, Pharmaceutical companies and Patient support societies) to combat against LSDs.

Department of Pediatric gastroenterology which is headed by Prof Huma Arshad Cheema holds the national data registry of LSD since the inception of this project in 2013 and had always been on the forefront in raising the awareness at every public forum including press, news workshops national and international forums advocating the rights of children requiring treatment to lead a normal and healthy life. Funds have been raised by pushing and requesting different philanthropists and government of Punjab for several patients who are doing well.

The Government must play a major role and 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 affected children, so that they may lead as normal a life as possible, and contribute to the welfare of the country as responsible citizens.

The Government of Pakistan should take a step forward and support these patients by

• Developing a policy for Lysosomal Storage Disorders
• Creating a special fund for such patients
• Provision from existing funds like Bait ul Maal.

We request President, Prime Minister, Governors, Chief Ministers and Health Ministers to support these patients by providing the funds so that these children can lead a normal life.