KARACHI: Health experts have said that more than 100 disorders have been reported from across the country, out of which 50 are quite common. Unfortunately, treatment facilities are available in the country for only a few of these disorders. They said cousin marriages were the major reason for many of these disorders. These views were expressed at a press conference at Karachi Press Club on Tuesday. The event was held in connection with the World Rare Diseases Day, observed across the globe on February 28 every year. The day is observed to raise awareness about genetic conditions that lead to rare diseases. Speakers said the widespread prevalence of intermarriages in Pakistan had meant that the population was at an increased risk of rare genetic diseases such as inborn errors of metabolism (IEMs). Dr Muhammad Fareeduddin, the head of pediatrics at Indus Hospital, Karachi, said that ideally every couple should get their genetic testing done before marriage. “These deficiencies cause material to get inappropriately stored in these special compartments of cells. Over time, the amount of material building up in each lysosome causes it to swell and occupy more space in the cell, leading to additional problems for normal cellular function. Cells thus become dysfunctional and may die, resulting in a wide variety of clinical symptoms. “However, in Pakistan, we have seen an increasing trend of cousin marriages that has led to genetic disorders.” “Until now, all over Pakistan, more than 350 cases have been diagnosed of rare disorders but hardly 10 percent of these can be treated locally,” he said, adding that treatment of these disorders was quite expensive. “At present, we can employ private-public partnership initiatives to treat these disorders. We want to urge the government to take the lead on these issues so that these patients, especially children, are given the choice of treatment in a timely manner,” he said. Dr Fareeduddin further said that there was a strong need of raising awareness about clinical conditions that led to genetic disorders. “Most common disorders are not only treatable but these patients can also be able to lead normal lives if the diagnose can be done in a timely manner,” Dr Fareeduddin added. He informed the press that at Indus Hospital four patients of Gaucher disease, an inherited disorder of metabolism, were under treatment, and a pompe patient was under treatment at National Institute Of Child Health. Speakers said at present, there was very little data in Pakistan on the prevalence of rare diseases. Dr Saba Abbasi, the medical lead at Sanofi Genzyme, said that her company will continue to support efforts to provide relief to patients of genetic disorders in Pakistan. “The samples are sent out of the country for diagnosis and Sanofi is providing free of charge service,” she claimed. Published in Daily Times, February 28th 2018.