Two-and-a-half-year-old Abiha was a cheerful child who loved running around the courtyard of her family’s home in Hasilpur in southern Punjab. In the photographs her father, Muhammad Zafar, still keeps on his phone, she is smiling shyly at the camera in one, chasing her siblings in another. Nothing in those pictures suggests that she was suffering from a disease doctors could not identify.

It started with a recurring fever in March 2025. Then came vomiting, loss of appetite and a pronounced enlargement of her liver and spleen. As her condition deteriorated, her parents travelled from one hospital to another in search of answers.

Blood tests failed to provide a diagnosis. Bone marrow examinations ruled out one possibility after another. Specialists remained puzzled.

It was only after Abiha reached Lahore’s Jinnah Hospital that doctors suspected a rare genetic disorder. They became concerned after learning that Zafar had previously lost two daughters — Fatima and Tahira — to a similar, unexplained illness. A specialised genetic test was needed to determine the cause, but the sample had to be sent abroad.

Pakistan still has no comprehensive estimate of how many of its citizens have inherited genetic disorders. Delayed diagnoses, limited genetic testing infrastructure and the absence of a national registry are leaving many Pakistani families suffering and searching for answers

Pakistan still has no comprehensive estimate of how many of its citizens have inherited genetic disorders. Delayed diagnoses, limited genetic testing infrastructure and the absence of a national registry are leaving many Pakistani families suffering and searching for answers

On June 27, 2026, Abiha died — before the report arrived.

Looking back, Zafar believes the same disease may have claimed the lives of two of his uncles decades ago, as well as another child in the extended family more recently.

THE MISSING DIAGNOSIS

Dr Sajid Ali, one of Abiha’s treating physicians, tells Eos that doctors suspected a genetic disorder during her very first visit. Her enlarged lymph nodes, liver and spleen, along with the deaths of two siblings after similar unexplained illnesses, raised concerns about an inherited condition.

Despite extensive blood investigations and a bone marrow examination, no diagnosis could be confirmed. “Because of her clinical findings and the strong family history, we recommended advanced genetic testing,” Dr Ali says.

But the family could not initially afford the test, worth Rs60,000, delaying genetic testing. Zafar, who runs a shop selling unstitched clothes, had already spent his savings on the treatment of his other two daughters.

Dr Muhammad Jawad Hassan, a medical geneticist associated with Islamabad’s Shifa Hospital, tells Eos that the demand for genetic services has grown steadily in recent years. He says he personally evaluates 60 to 70 patients every month for genetic counselling, family risk assessment or specialised diagnostic investigations.

The number of patients requiring such services, Dr Hassan says, is likely to be much higher in public hospitals, where organised genetic services are largely unavailable. While basic chromosome analysis is available in some laboratories,........

© Dawn (Magazines)