n the heart of Wazirabad, a district in the Gujranwala division, lives a young man named Shabbir. At 28 years old, Shabbir is not any ordinary individual; he is a beacon of resilience in the face of adversity, battling the challenges posed by Down syndrome. His story is a testament to the unyielding spirit of his family, who, despite financial hardships and societal stigma, continue to fight for his right to a dignified life.

Shabbir’s mother recounts the days leading up to his diagnosis. “When I married, I was 28 years old,” she recalls. The family’s sole breadwinner was Shabbir’s father, a labourer whose income barely covered their basic needs. Despite the challenges, the family had hope and dreams for the future.

When Shabbir was born, his mother was 33 years old. It wasn’t long before she noticed something unusual. “Shabbir couldn’t lift his neck for the first six months,” she says. Concerned, she took him to the Civil Hospital, where a doctor confirmed that Shabbir had Down syndrome. The news was devastating. The doctor explained that the condition was due to an extra chromosome 21, often linked to late pregnancies.

Shabbir’s diagnosis plunged his mother into a deep sorrow. She lost her appetite and withdrew into silence, grappling with the harsh reality that her son would face lifelong challenges. Over time, she found solace in her faith, accepting Shabbir’s condition as a part of God’s plan, though the occasional pangs of sadness persisted.

The financial strain of Shabbir’s condition added to the family’s woes. With limited income, regular medical checkups and treatment were hard. Access to healthcare is a significant challenge in rural areas. Most of the country’s 1,500 public hospitals are situated in urban areas.

Shabbir’s case is not unique. In some villages of Sindh and Northern Pakistan, children with Down syndrome are a more frequent sight. Many of them also have congenital cardiac defects, which significantly contribute to their high mortality rate. Pediatrician Dr Idrees, who works at the Civil Hospital in Wazirabad, says, “Down syndrome is a genetic condition caused by an extra chromosome 21 and leading to physical and cognitive challenges.”

He says that the risk increases with maternal age. “When the mother’s age is above thirty, the chance of Down syndrome increases,” he says. Shabbir exhibits the characteristic symptoms: a flattened facial profile, almond-shaped eyes and small hands and feet.

Despite the hardships, Shabbir’s family remains hopeful. His mother, now accustomed to their routine, emphasises the importance of early diagnosis and intervention. However, many families remain unaware of the condition until it is too late.

Gynecologist Dr Aqeela highlights the availability of screening tests between Weeks 10 and 14 of pregnancy, known as the combined test, which includes an ultrasound scan and a blood test. “In Pakistan, people rarely undergo such screening. As a result they remain unaware of the disease in newborns,” she says.

This age-related risk factor is significant but often overlooked in Pakistan. The lack of awareness about this issue, coupled with widespread poverty, means that many people do not understand the implications for the next generation.

Kishwar Bibi, from Saruki Cheema, says that she married late due to family circumstances. After her father’s passing, her brother took over farming, leading to challenging household conditions. Due to financial constraints, she married at the age of 29. Kishwar Bibi says that her son, Muhammad, did not engage in typical activities when he was a few months old. By the age of two and a half, his IQ was significantly lower than other children his age. This hindered his learning. At the age of 3, Muhammad was diagnosed with Down syndrome. She says her son is remarkably stubborn due to his low IQ. Now, 7 years old, he has the cognitive abilities of a 5-year-old, making it difficult for him to grasp situations easily. His slower understanding causes frustration and contributes to his stubborn behaviour.

Kishwar says the doctor told her that this disease can be caused by women marrying late.

Researcher Kulsoom Sughra, from the University of Gujrat says that one of the major causes of Down syndrome is pregnancy at an advanced age. She says that most children with Down syndrome are born to women aged 33 and above.

This age-related risk factor is significant but often overlooked in Pakistan. The lack of awareness about this issue, coupled with widespread poverty, means that many people do not understand its implications for the children.

Sughra says lacking proper education and resources, many families remain unaware of the risks associated with advanced maternal age. This leads to a higher prevalence of Down syndrome, which could be mitigated with better public health initiatives and awareness campaigns. She calls for increased efforts to educate people about these risks and to provide support for those affected, aiming to improve outcomes for future generations. She says the incidence of Down syndrome can be reduced with increased awareness.

Sughra says, “The first step towards change is awareness; the second step is acceptance.”

Research by Maryam Shokri and Saba Irshad underscores the prevalence and risks associated with Down syndrome and intellectual disabilities in Pakistan. Their studies reveal alarming statistics, highlighting the urgent need for awareness and healthcare reform.

In an attempt to address these challenges, local non-government organisations, social workers, psychologists and speech therapists have stepped in to raise awareness and support the basic health and education rights of children with Down syndrome.

Pakistan Bait-ul-Maal has introduced financial assistance for families with disabled members, offering Rs 10,000 for one disabled member and Rs 25,000 for families with two or more.

Shabbir’s story, while saddening, also embodies hope. His family’s resilience, combined with the efforts of dedicated professionals and organisations, paints a picture of a community moving toward acceptance and support for those with Down syndrome. It is a journey marked by small victories against odds, highlighting the power of love, hope and unwavering determination in the face of adversity.

The writer is a freelance journalist based in Gujranwala