Country-wide awareness drive about rare genetic diseases launch soon

KARACHI: Head of Paediatrics, Indus Hospital, Karachi, Dr Muhammad Fareeduddin announced on Tuesday that a mass public awareness would be launched across Pakistan to sensitize the general public about rare genetic diseases soon as well as trainings of doctors would also be conducted for accurate diagnosis of diseases.

Speaking the press conference at Karachi Press Club, Dr Fareeduddin said cousin marriages and marriages within clans is one of the major causes of genetic disorders in our country. He said World Rare Diseases day is celebrated on 28th February and basic motive to celebrate this day is to create awareness among the people about the genetic conditions that lead to the rare diseases.

He explained that these are basically a group of more than 100 disorders out of which 50 are the common disorders and few of them are treatable in Pakistan too. He said major reason for these inherited disorders is cousin marriage or marriages within the same clan or families and ethicality.

“Ideally every couple should get their genetic testing done before marriage. These deficiencies cause material to get inappropriately stored in these special compartments of the 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” he added.

Dr Fareeduddin said more than 350 have been diagnosed in rare blood diseases but hardly less than 10 percent are being able to be treated. He said rest of them are either waiting for the treatment or have lost their lives. He said in Karachi we at Indus Hospital have treated four patients of Gaucher disease, one of pompe. One pompe patient is under treatment at NICH. No patients of MPS-1 are found or under treatment in Karachi.

“We want to create awareness about what are the clinical conditions that will lead to these genetic disorders, how it is presented and what are the outcomes. Very few most common disorders are not only treatable but these patients are able to lead the normal life if timely picked and treated.” Dr. Fareeduddin added.

The only basic problem with this treatment is its higher cost. At present private public partnership is able to treat these disorders and we want to urge the government to take initiative on these issues too so that these children / patients are given the choice of treatment what they deserve.

Medical Lead Sanofi Genzyme, Dr Saba Abbasi, said, “The samples are sent out of the country for diagnosis and Sanofi Genzyme is providing free of any charge. We will continue our support to patients of genetic disorders in Pakistan. The patients along with their families were also present at the press conference.

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