Coordinated efforts needed to combat rare disease


KARACHI: Renowned Hematologist Dr Saqib Ansari on Thursday revealed that more than 100 patients are likely to be affected every year by treatable Lysosomal Storage Disorders (LSDs), regardless of the lack of disease registry in Pakistan.

He shared these statistics during a media briefing held at National Institute of Blood Disease & Bone Marrow Transplantation here. He said a disease is considered rare if it affects a small percentage of population. He said precise definition varies in different countries, from 1 in 1500 in USA, 1 in 2000 in Europe and 1 in 2500 in Japan. He said based on the least of these calculations, there are large number of suspected cases of LSDs in Pakistan.

The estimated combined incidence of all LSDs is about 1 in 5,000 live births. However, the incidence of each of the different diseases can range from 1 in 40,000 up to 1 in 2,000,000. Whereas in Pakistan 24 cases have been diagnosed in one year, which is not considered to be as rare as the global data. The reason could be the higher frequency of consanguineous marriages in many communities he explained.

He said Mucopolysaccharidosis Type I (MPS I) is one of the rare diseases and is a severe, fatal, multi-system LSD, which can affect physical abilities, organ and system functioning, as well as mental and skeletal development. It is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase, which leads to the accumulation of complex carbohydrates known as glycosaminoglycans (GAGs).

He informed that incidence of MPS I is estimated to be at about 1 in 100,000 births. It has been estimated that in British Columbia, 1 in 100,000 babies born would have Hurler. The estimate for Scheie is 1 in 500,000, births and for Hurler/Scheie it is 1 in 115,000.

He said, There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease.” He said available treatment is beyond the affording power of many parents in Pakistan. People living with MPS 1 often show scarce audacity, persistence, and grace in dealing with extraordinary challenges thrown up by their disease.

He said in order to combat MPS 1, the children with diseases need coordinated efforts from all stakeholders including doctors, government, NGOs, philanthropists, families, pharmaceutical companies and patient support societies.

Dr Ansari further said government must play a major role, as family members of MPS 1 patients around the country are trying to reach out to the government and other institutions for their support, so that their children get the required treatment and can lead a normal life.

He said in Pakistan major support must come from the Government, which should set up facilities for screening, early, and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to making the patients’ lives more comfortable. The immediate and pressing need however is that the government should work out a scheme to provide free treatment for such patients, as the number of cases with such disorders are few and manageable.”

Dr Ansari said unfortunately, Pakistan does not have a reimbursement policies or proper health insurance system for such patients unlike other countries. He said government must 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.

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