LAHORE: Largely neglected, genetic diseases are responsible for 50 per cent of deaths of children before the age of one year in Pakistan.
These are also responsible for a significant handicap in the older children who have muscular or CNS (Central Nervous System) disease.
A study to the effect surfaced when the Department of Pediatric Gastroenterology of the Children’s Hospital, Lahore completed test process of 2,000 families from all over the country.
Headed by Prof Huma Arshad Cheema, the department holds a unique stature as not only it deals with children with liver and gastroenterology diseases, but is also the only facility in the country that diagnoses and treats patients with the lysosomal storage disorders, inborn error of metabolism and all kinds of genetic diseases.
“The genetic diseases are, in most cases, serious, chronic, debilitating and life threatening, often requiring long and specialised treatments,” says Prof Huma ahead of the annual conference to be held at Avari Hotel in Lahore on Feb 29.
Children’s Hospital completes test process of 2,000 families
She said the mega event is organised by the Department of Pediatric Gastroenterology of Children’s Hospital, Lahore at a local hotel in collaboration with Prof Dr Arndt Rolfs from Germany.
Professor of Neurology and Psychiatry, Dr Rolfs is the chief executive officer and founder of Centogene AG, and Director of the Albrecht-Kossel-Institute for Neuroregeneration at the University of Rostock, Germany. He is a principal investigator of several international multi-center studies in the area of rare diseases, including the Sifap project (www.sifap.eu), the world’s largest study in young stroke patients related to Fabry disease, several biomarker and epidemiological studies in neurogenetic aetiologies.
Prof Huma said for forty minutes, there would be live transmission of a similar event in Berlin and Mexico as well. She said Pakistan was a highly inbred community with cousin marriages and same caste marriages.
“We have a very high prevalence of inherited or genetic diseases in children. This includes diseases of the liver, heart, kidney and brain,” she said.
After infectious disease and malnutrition, genetic diseases are the biggest cause of morbidity and mortality in children, she said. She lamented that the genetic diseases are a poorly understood domain at the level of the public as well as health policymakers.
In addition, physicians caring for children many times do not have the required knowledge or expertise to guide families with such disorders. She added that in a country where both infection and genetic disease constitute an equal health burden in children, only infection seems to get all the attention and focus.
Keeping in view the situation, it is imperative that awareness on genetic diseases is raised at every level.
Prof Huma Cheema said that in the absence of proper care and counseling, many families have more than one affected baby. “This can be easily prevented by proper diagnosis.”
Families who have any disease in immediate relatives must seek advice from a qualified doctor and have proper genetic counseling, she suggested.
“Even brief delays in diagnosis may have profound effects on outcomes for over 40% of genetic or rare disease patients,” she warns. When patients are diagnosed, many are unable to afford treatment which is largely not available locally.
Unfortunately, she said, there was no private or public sector facility for genetic testing in Pakistan.
“The bloods have to be sent abroad for testing and per person testing costs are more than Rs200,000,” she said.
As in genetic testing the affected children and parents have to be tested, this amounts to more than Rs600,000 that is not affordable even for the middle-class families.
“In view of the huge burden of genetic disease impacting the health and life of Pakistani children and adults, our department offers free testing to patients from all over Pakistan,” she said.
The department also offers free testing for cancers, she said, adding that this facility was offered in collaboration with Prof Arndt Rolfs at Centogene Germany.
Over the past two years, she said, the department had tested more than 2,000 families from all over the country. She said prevention is a very important aspect of health care. “In families affected with genetic diseases, it is very important to offer prenatal testing to prevent diseased children with lethal disorders from coming into the world.
“For the first time in Pakistan, the department of Pediatric Hepatology offers free prenatal testing to women who have lost children from suspected or proven genetic diseases,” said Prof Huma.
The Children’s Hospital, Lahore has planned a seminar for creating awareness among people on ‘Rare and Genetic Disease Day’ on the last day of February, she concluded.
Published in Dawn, February 22nd, 2020