‘No Tests, No Policy, No Future for Kids with Rare Disorders’

Shazia Mehboob

Rawalpindi: Dr Imran Raja, Head of Pediatrics and Neonatology at Citycare Hospital and Medicare Hospitals Rawalpindi, has warned of a growing crisis of access, equity, and awareness regarding genetic and metabolic disorders in Pakistan — rare yet life-threatening diseases for which health facilities remain severely limited and prohibitively expensive. 

“This is not just a health issue — it’s a crisis of access, equity, and awareness,” said Dr. Raja in an interview. “Pakistan urgently needs a national policy framework for genetic and metabolic disorders, including affordable testing, newborn screening programs, and subsidized care for affected children. Until that happens, countless families will continue to suffer in silence.”

Dr. Raja explained that such disorders are often inherited and passed down through families, and their prevalence is alarmingly high in Pakistan. “One of the major contributing factors is consanguineous marriages — marriages between cousins — coupled with late-age marriages and a lack of genetic awareness,” he said.

According to Dr Raja, metabolic disorders are among the most neglected inherited conditions in the country.

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“In Pakistan, these disorders are either undetected or misdiagnosed due to the absence of specialized diagnostic infrastructure,” he said.

“Only a few institutions — such as MH or CMH Rawalpindi and Aga Khan University Hospital, Karachi — conduct basic metabolic tests.”

He added that advanced diagnostic testing facilities for these conditions are not available anywhere in Pakistan.

“For advanced tests like Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), samples have to be sent abroad — to Italy, Germany, the UAE, the UK, or the US. India used to offer such services too, but not anymore,” Dr. Raja noted.

He said the cost of these tests ranges between PKR 100,000 to 300,000 or more, which makes them unaffordable for most families.

“Because of these high costs, tests are usually conducted privately, and the data rarely becomes public. Consequently, patients suffering from rare genetic and metabolic diseases remain invisible in the national health system,” he said.

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Highlighting the struggle faced by diagnosed children, Dr. Raja said that even those who manage to get a diagnosis receive little or no support.

“The specialized medical formulas required for their survival are either unavailable or too expensive — costing around PKR 2,200 to 2,300 per unit,” he explained.

“Most parents simply cannot afford these, and sadly, we’re seeing families with two, three, or even four children born with the same rare metabolic conditions. Many of them do not survive due to the lack of timely treatment and government support.”

Dr Raja emphasized that Pakistan must treat this as an urgent public health priority. “Without a national framework for prevention, early screening, and financial assistance, these children — and their families — will remain trapped in an endless cycle of suffering,” he concluded.

The PenPK.com exclusive.