By the time Hijab was two years old, her parents knew their child was unwell. She could not take part in physical activities like other children her age. Her parents remained clueless about her predicament.
It was much later that the reason was discovered. When the case was referred to Lahore General Hospital’s head of Paediatrics Department, Dr Agha Shabbir Ali, he prescribed a complete check-up, including blood tests, bone marrow biopsy and an enzyme essay. The results were definitive. Hijab was diagnosed with a rare genetic disorder known as Gaucher disease, a sub-type of a range of genetic disorders called Lysosomal Storage Disorder (LSDs). Turns out that in Pakistan, the high number of interfamilial marriages taking place in the country make more children like Hijab susceptible to it.
The unknown enemy
LSDs are a group of 45 inherited genetic defects which ultimately affect multiple organs which lead to progressive physical and mental degradation over time. Some patients survive into adulthood; others are not so lucky.
Unfortunately, due to the rarity of the disease, it has been largely neglected. While healthcare professionals are gradually becoming aware of the dilemma, it may still be another few years before treatments are available.
“The first step towards addressing the issue at large is taking the necessary precautions,” explained Dr Aisha Mehnaz, head of Paediatrics at Dow University of Health Sciences and Civil Hospital Karachi,at the first press briefing of the National Lysosomal Storage Disorder Core Committee held at a local hotel in Karachi on Saturday.
Dr Mehnaz suggested that the only way to stop the incidence of genetic disorders was to educate people regarding the ill consequences of interfamilial marriages.
Dr Huma Arshad Cheema, a Professor of Paediatric Gastroenterology, Hepatology and Nutrition at the Institute of Child Health and the Children’s Hospital, Lahore, explained that by the time the correct diagnosis was made, it was too late to initiate treatment. “The prime objective of the committee is to spread awareness regarding the disorder among physicians, donors and the general public. Patients stand a better chance at managing their symptoms if they are diagnosed in the early stages.”
Role of the government
The next step would be to take the government on board and seek its assistance in providing treatment to these patients. There is a need for the government to devise a programme to facilitate the treatment of these patients.
Dr Agha Shabbir suggested that the government must provide the necessary resources to at least one laboratory in an urban centre to perform these tests. “It is indeed unfortunate that we do not even have accurate data on the number of patients currently suffering from the disease. This is because we don’t have proper diagnostic facilities.” Misdiagnoses causes a number of children from the same family to die before the doctor arrives at the correct diagnosis. “I have seen four children of the same family die due to this disorder before the fifth one was diagnosed with it,” reminisced Dr Cheema.
At least six of the LSDs are treatable through enzyme replacement therapy (ERT). This therapy is quite costly, however, with treatment options averaging at about Rs60,00,000 per year. Currently, eight children in the country are receiving treatment funded by various international donors which enables them to lead perfectly healthy lives.
“Currently, we have no support whatsoever from the government,” said Dr. Cheema. She explained that because the disease was quite rare as compared to other health issues, it was not on the government’s radar. But it is still an important issue “because every life is precious.”
Published in The Express Tribune, August 21st, 2013.