Experts discuss the rise in cases and a lack of diagnostic and treatment facilities
Karachi
With a massive increase in the number of children born with Lysosomal Storage Disorders (LSDs) in Pakistan, a lack of diagnostic and treatment facilities have resulted in the deaths of most born with the condition.
This was stated by Indus Hospital Karachi (IHK) Consultant Paediatrician Dr Muhammad Fareeduddin while speaking at the third biennial conference on Management of Rare Diseases in Pakistan, organised by the IHK, on Sunday.
LSDs - a set of around 50 rare metabolic disorders - were inherited disorders which affect body enzymes in a specific location, he said. In case of an absence of the enzymes, body cells become incapable of breaking down the molecules present within a cell, the storage of which eventually leads to the damage of cells and other organs of the body.
Owing to a lack of diagnostic facilities in Pakistan, samples of suspected patients were being sent to India and Austria, Dr Fareeduddin informed.
Genzyme, a subsidiary of a multinational pharmaceutical company was said to be helping patients out with the diagnosis and treatment.
The paediatrician hoped for the country to establish at least two diagnostic facilities – at the IHK and the National Institute of Blood Diseases (NIBD) – since, he claimed it had the expertise to set one up.
Further explaining the disorders, he said the estimated probability of someone being born with LSD was one in 5,000 live births; however, the probability of some of the disorders could go up to one in 40,000 to one in two million.
However, in Pakistan, Dr Fareeduddin claimed, over 150 cases had been diagnosed in two years.
“This meant that the likelihood of someone being born with one kind of the disorder was much higher in Pakistan than the statistics globally considered.” According to him, the reason for a higher number of patients in the country was consanguineous marriages.
The actual number of deaths occurring due to the disorder could be much higher than the statistics quoted, since we did not have proper diagnostic facilities. “We already have 13 patients receiving treatment for the respective disorders in our country at the moment.”
Speaking of availability of proper medical facilities as well as the level of awareness among the masses, he said conditions varied extensively in urban settlements to that of the rural ones.
He suggested for all couples to get a prenatal diagnosis done in order to prevent LSDs.
Although rare disorders such as the LSDs had limited treatment options, a few of them could now be treated with enzyme replacement therapies, Dr Fareeduddin stated.
However, he added that most of the treatment options were beyond the affordability of the masses. “They depend on the government’s support!”
While speaking of the difficulties patients suffering with LSDs face, he said they often feel isolated since they were unable to share their anxieties with people; medical professionals were also claimed by him to not have much awareness of the disorders.
He called for immediate measures to be taken to create awareness regarding the disorders among both, the common man and the medical practitioners and also urged the government to help family members of patients in acquiring the treatment their children depend on.
Several other experts including haematologist Dr Tahir Sultan Shamsi of NIBD, Paediatric Haematologist Dr Saqib Ansari, Paediatric Oncologist Dr Shamvil Ashraf and others.
