The country is in need of formulating a policy to prevent and manage lysosomal storage disorders coupled with the provision of special funds to treat patients, which affects children below the age of one year.
Senior paediatricians, while talking to APP, said this was extremely important as there are a sizable number of children in the country suffering from this genetic disorder.
Attributing the health condition to a rampant trend of consanguineous (cousin) marriages, they sought concerted efforts for pre-marital medical counselling at varied levels in the country.
Prof Dr Aisha Mehnaz, a senior child specialist along with her colleagues, also recommended easy and affordable availability of enzyme replacement therapy for the children born with the condition.
“This is crucial as children, often below one, suffer from a defect in special enzymes required to break down waste products in the body,” elaborated the doctor.
In reply to a question, she said more than 50 children, on an average, are diagnosed with LSD while several other could never reach the proper facilities due to its poor understanding among the vast majority of family physicians.
Dr Aisha urged the doctors in general not to ignore children brought to them with symptoms like enlarged livers, massively enlarged spleen, need for frequent blood transfusions, bone changes, CNS manifestations and recurrent chest infections etc.,.
In reply to a question, she said treatment for the condition is also very expensive and often beyond the means of many of the parents in Pakistan.
“Treatment of LSD, that has its varied categories, can efficiently turn miserable death to a near normal life but is expensive,” said Dr Aisha Mehnaz.
Prof Huma Arshad Cheema, Head of Pediatrics Gastroenterology Hepatology Department, Lahore Children Hospital, who successfully managed to establish the registry in 2013 for relevant cases mentioned that around 32 Lysosomal Storage Disorder patients died last year.
“This was because the children had no access to enzyme replacement therapy,” she said.
The health expert, on the basis of available data, said that more than 225 children have been diagnosed with LSDs, most commonly being Gaucher disease followed by MPS 1 and Pompe.
About the age of presentation and severity of disease, she said that these vary according to the type of LSD; however, it is mostly below one-year-old children who suffer from it.
Dr Huma, another health expert, said that lack of awareness coupled with delayed diagnosis lead to the death of children at a very young age.
She, however, mentioned that diagnosis of LSD was no more as challenging as it used to be.
It was only a few years ago that samples of LSD suspected children were sent to the UK, the USA, Germany, Australia and India while reports were received in three to four months’ times.
“Fortunately now we have a facility,” she said.
The two paediatricians urged the stakeholders, including doctors, health departments, philanthropists, NGOs concerned families, pharmaceutical companies and patient support societies, to join hands for a cause closely linked to the future of the country.
Prof Huma Arshad Cheema reiterated that children who were fortunate to procure timely treatment that is enzyme replacement therapy have been able to lead a normal and healthy life.
“We have always been at the forefront in raising the awareness and advocating the rights of children at every public forum,” she said.
Expressing her gratitude to philanthropists for their support, Dr Huma said concerted efforts were needed to ensure proper screening, early and accurate diagnosis, appropriate enzyme therapy and rehabilitation to help affected children lead comfortable lives.
