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
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, advanced molecular tests — such as whole exome sequencing (WES) and whole genome sequencing (WGS) — are still not routinely available, even though they are important for diagnosing many rare inherited disorders.
As a result, many Pakistani families have to send samples abroad, increasing both the financial burden and the waiting time. “Families also need counselling to understand inheritance patterns, recurrence risks and the options available to them,” Dr Hassan continues. “At the moment, genetic counselling and related services are available only in a few centres.”
Prof Dr Shahid Baig, the dean of life sciences at the Health Services Academy in Islamabad, says Pakistan has made progress in establishing diagnostic facilities over the last two decades. But he adds that capacity remains inadequate for a country of over 240 million. Beyond infrastructure, he identifies shortages of clinical geneticists, molecular geneticists, genetic counsellors, bioinformaticians and laboratory scientists as some of the barriers to expanding genomic medicine nationwide.
According to Prof Baig, Pakistan’s healthcare system still does not routinely identify inherited disorders early in life, when intervention can be most effective. He says introducing newborn screening programmes gradually should be a major public health priority, initially focusing on a limited number of treatable disorders before expanding as laboratory capacity improves. Early diagnosis, he says, not only improves clinical outcomes but also reduces the long-term emotional and financial burden on affected families.
Dr Zafar Mirza, a former state minister for health, says Pakistan’s high rate of consanguineous marriages (ie those between blood relatives) makes genetic disorders an important but often overlooked public health challenge. In communities where marriages between relatives are common, recessive genetic disorders are more likely to occur.
Dr Mirza advocates greater investment in public awareness, premarital carrier screening, newborn screening programmes and genetic counselling, so that families understand their risks before having children and affected infants can be identified as early as possible.
THE GAP IN THE DATA
At the same time, Pakistan lacks a clear picture of how many people are living with genetic diseases. Federal health minister Mustafa Kamal says his ministry does not maintain a nationwide registry of patients with genetic disorders. This makes it difficult to estimate the scale of the problem or plan effective screening and treatment programmes.
Kamal says the information currently available comes from isolated institutional efforts rather than a coordinated national system. These include the Aga Khan University Biochemical Genetics Laboratory’s registry for inherited metabolic disorders, the Punjab Thalassaemia and Other Genetic Disorders Prevention and Research Institute and several hospital-based registries for conditions such as lysosomal storage disorders.
To address the gap, Kamal says the ministry is drafting Pakistan’s first national strategy on rare diseases. The proposed framework includes establishing a National Rare Disease Registry at the National Institute of Health (NIH) in Islamabad, integrating data from existing registries, mapping rare disease cases across the country, and developing standardised reporting systems for genetically confirmed patients.
As an interim measure, the ministry also plans a rapid assessment of major children’s hospitals, to produce the country’s first national estimate of rare disease cases.
The draft policy also proposes pilot newborn screening programmes for treatable inherited disorders, including congenital hypothyroidism and selected inherited metabolic diseases, alongside expanded carrier screening using Pakistan’s existing thalassaemia infrastructure. Thalassaemia screening offers Pakistan an existing model for preventing an inherited disorder.
Sharmila Faruqui, a legislator of the Pakistan Peoples Party, introduced the Islamabad Capital Territory Compulsory Thalassaemia Screening Bill, passed by the National Assembly in March 2026. When signed into law, it will make premarital thalassaemia screening mandatory for prospective spouses in the federal capital. Sindh passed a similar law for screening spouses in 2014. In April 2025, Punjab passed a law making genetic testing, including for thalassaemia and other diseases, mandatory for admission to schools and madressahs.
“The objective of the legislation is to ensure prospective couples know their carrier status before starting a family,” says Faruqui. The proposed law will not stop two carriers from marrying. “It ensures they receive genetic counselling, so they understand the risks to future children and can make informed decisions,” she says.
A PREVENTABLE BURDEN
According to the Punjab Thalassaemia and Other Genetic Disorders Prevention and Research Institute (PTGD), thalassaemia is Pakistan’s most common inherited disorder. The institute estimates that around six per cent of Pakistan’s population — approximately 14.2 million people — are healthy carriers of a beta-thalassaemia mutation.
If both prospective parents carry the trait, each pregnancy carries a 25 per cent chance of resulting in a child with beta-thalassaemia major. The PTGD estimates that around 6,000 children are born with thalassaemia major every year, despite the disease being largely preventable through carrier screening and genetic counselling.
To combat the problem, the PTGD operates nine regional screening and genetic counselling centres across Punjab, linked to the 36 districts in the province.
Faruqui agrees that awareness, informed consent and effective screening policies are essential to reducing the number of children born with thalassaemia major.
One charity working with affected families is also focusing on prevention. Kashif Pervaiz of Sundas Foundation says that his organisation provides blood transfusions, laboratory services, counselling and medical care to around 10,000 registered thalassaemia patients across Pakistan. Alongside treatment, they actively promote carrier screening and public awareness through schools, universities and community outreach programmes.
AN ANSWER, AT LAST
Unlike Abiha and her family, Unaiza Haider from Lahore eventually received the answer she had spent years searching for.
Her son Ammar was three when she first noticed that his growth was slower than other children his age. Friends and relatives dismissed her concerns, insisting that every child develops differently. But as the years passed, she remained convinced that something was wrong.
Unaiza’s fears were confirmed when eight-year-old Ammar developed persistent vomiting and severe pain. Doctors initially treated him for stomach problems, but Unaiza repeatedly insisted the pain seemed to be coming from his kidneys.
An ultrasound at a district hospital found nothing unusual, but a second scan at Lahore’s Children’s Hospital revealed multiple stones in both kidneys. Further investigations eventually led to a diagnosis of primary hyperoxaluria type 1 in 2011, an inherited disorder in which a deficiency of a liver enzyme causes oxalate to accumulate and damage the kidneys.
At the time, Pakistan had limited experience treating the condition. After consulting specialists in Lahore, Karachi and Islamabad, the family travelled to India in 2014, where Ammar underwent weeks of dialysis before receiving a combined liver and kidney transplant from two relatives. Today, more than a decade later, he is a healthy university student.
Looking back, Unaiza believes an earlier diagnosis could have spared her son years of uncertainty and suffering. “We were fortunate that we eventually found the answer,” she says. “Many families are still searching for one.”
BEYOND INHERITED DISORDERS
Not every child with a birth defect, however, has a rare inherited disorder.
Islamabad-based journalist Faiz Paracha’s son, Asad, was diagnosed with congenital rubella syndrome after testing during pregnancy showed that his mother had contracted rubella. “Doctors had noticed an abnormality during the pregnancy but couldn’t tell us what it was,” he tells Eos. The condition left Asad visually impaired in one eye and with weakness on one side of his body.
More than a decade later, physiotherapy remains part of Asad’s life, while corrective tendon surgery is still beyond the family’s financial reach.
“The facilities exist,” he says, “but for many families they remain inaccessible because of cost.”
STILL WAITING
Following the recommendation of Abiha’s doctor, the family paid Rs60,000 to have her blood sample sent abroad for advanced genetic testing through the Centre of Excellence in Molecular Biology (CEMB) at the University of the Punjab.
The family was told that the analysis could not be performed in Pakistan and the sample had to be sent abroad. Zafar says the CEMB took the sample on April 20, 2026, more than two months before she died. He is still waiting for the report.
Eos contacted the CEMB seeking information about Abiha’s case as well as their diagnostic capacity and other available screening and testing facilities. No response was received by the time this story went to print.
The report Zafar is still waiting for can no longer save his daughter. But he hopes it will finally answer the question that has haunted his family for generations.
Zafar says he still contacts the laboratory, hoping the results will finally arrive. He has chosen not to tell them that his daughter is dead. “I don’t need the report for treatment anymore,” he says. “I only want to know the name of the disease.”
The writer is an investigative journalist.
X: @saddiamazhar
Published in Dawn, EOS, August 16th, 2026