Tehmina Zeeshan gave birth to her fourth child, a baby boy, at a hospital located in Gulshan-i-Hadeed in the outskirts of Karachi on August 28, 2021. When she saw her son, Muhammad Wahaj, for the first time, she noticed he had distinctive facial features.

But she was more concerned about his wellbeing than what was different about him. When Wahaj cried for the first time, she felt relief. But the expressions on the faces of the nursing staff indicated something was not right.

THE SEARCH FOR A DIAGNOSIS 

Soon after his examination, doctors were unable to understand the baby’s condition and asked the family to shift him to a well-equipped neonatal intensive care unit (NICU) in the city. When the family asked why, the doctors told them their baby looked unusual and ‘weird’ and they could not cater to his ‘special’ needs because they lacked the facilities.

They also failed to explain what medical support the baby needed. Tehmina was not asked for an anomaly scan during her pregnancy, so she was completely clueless about her son’s condition.

Soon after her son’s birth, the hospital discharged Tehmina, who returned home, while her husband Zeeshan Ahmed took Wahaj for a thorough check-up and to admit him in a NICU, as advised by the hospital. One of the leading hospitals in Karachi refused to take the baby, saying they did not have the space in their NICU and, even if they did, it was reserved for the babies born there.  

It took the parents of a newborn baby 40 days to get a diagnosis of a rare genetic disorder. Since learning her son has Treacher Collins Syndrome, the mother is on a mission to educate others about it

Disheartened by the hospital’s refusal and worried about his child’s wellbeing, Zeeshan decided to take him to another well-known hospital located on Stadium Road but he was refused there. While he was leaving the premises, a doctor stopped him in the hallway to see the newborn baby and asked if her students could check the baby as well. Zeeshan agreed.

The young students came and were visibly excited to see Wahaj. Together with their teacher, they had a discussion about ‘Treacher Collins Syndrome’ (TCS) in terminologies that were hard to comprehend for a layman, that too a worried father. Unfortunately, none of them bothered to pause and advise the distressed father about his child’s condition. 

Carrying his hungry newborn baby in his arms, Zeeshan reached home to tell his wife that the baby was fine as he was breathing and suckling well. However, the trauma took a toll on his memory, and he could not recall to Tehmina what ‘syndrome’ the teacher and students had been talking about at the second hospital.

From that moment, Tehmina’s quest to get a diagnosis for her son began.

She started searching the internet for various syndromes she had heard of and would match the symptoms and physical appearance with her baby, while praying in her heart that her baby would not have it. She looked up Down syndrome, cerebral palsy and even the Hutchinson-Gilford syndrome.

In the midst of her research, she continued visiting hospitals and clinics nearby to get even the slightest clue about her little boy’s condition. One of the doctors misdiagnosed Wahaj’s condition and told the mother he had progeria, which leads to early ageing, organ failure and death. 

Getting the right diagnosis at the right time is crucial for a child’s wellbeing, as it provides an explanation of health problems and helps the parents make subsequent decisions. Tehmina cried her eyes out when she heard about the possibility of losing her baby at such a young age. She was not ready to let go of her child.

Since the family had recently shifted to Gulshan-i-Hadeed and could not afford to travel frequently to inner Karachi for diagnosis and follow-ups, they decided to go to Islamabad — where they were from and had a family support system. So, when Wahaj was 40 days old, the family packed their bags and left their house in search of the right diagnosis. 

TREACHER COLLINS SYNDROME 

At Shifa International Hospital in Islamabad, Wahaj was finally diagnosed with Treacher Collins Syndrome, which affects approximately one in every 50,000 children worldwide.

Named after the British surgeo­n­  and ophthalmologist Edward Treacher Collins, who described the syndrome as an extremely rare inherited group of conditions that affect the development of facial bones and tissues, and the shape or size of a person’s ears, eyes, cheekbones and jaws.

TCS can cause one or more conditions that affect a child’s ability to feed, breathe or hear. Most children born with TCS need life-long healthcare follow-ups. Their symptoms can range from mild to very severe. 

Tehmina was hearing about this syndrome for the first time. “It took me some time to even pronounce it correctly,” she says. She had so many questions which the doctor listened to patiently and answered.

The first thing she asked was about life expectancy and whether TCS is a life-threatening disorder. The doctor told her that life expectancy is generally normal while explaining the several complications people with TCS face and what medical remedies are available to cater to their needs. He showed her several cases from around the world and explained that each case varies greatly from the other.

“With every case and complication that I heard, I thanked Allah for how blessed my son is to not be severely affected by this disorder,” says Tehmina. “Wahaj has his own share of struggles, but I believe he is still better off than many others struggling with this condition.”

The next thing Tehmina wanted to know was about Wahaj’s potential intellectual ability. She told the doctor that she wanted her children to be haafiz [memorisers of the Quran], and asked if Wahaj would be able to do so. The doctor did not shun her question or expectations.

Instead, he asked her if she would be proud if Wahaj could only offer namaz (prayers). He explained that every individual affected with TCS has different needs and abilities. If extended the right medical and moral support, they can do whatever they want. The doctor added that he had also met a doctor who had TCS. 

“This was what I was yearning to hear,” Tehmina’s eyes brim with hope as she recounts that day of the diagnosis. She wanted to know there was light at the end of the tunnel and the doctor assured her there was.

EDUCATING SELF AND OTHERS

From the very next day after the diagnosis, Tehmina set off on a mission to educate herself. She searched social media to find support groups for Treacher Collins Syndrome in Pakistan and people with the same condition but couldn’t find anything.

So, she joined international support groups, learned about the disorder and its various symptoms from people all around the world, made new friends and even received a bone-anchored hearing aid (BAHA) as a gift from people abroad. “I have also found three people with TCS in Pakistan through social media,” she says.

She also learned how strong and supportive other healthcare systems around the world are and how well they take care of their citizens with different needs. “One of my friends, a Pakistani living in Norway whose child has TCS, even offered to adopt Wahaj because she knew how pathetic the system is here,” she says.

Tehmina’s next step was to educate others about TCS and raise awareness about this rare genetic disorder. For that she set up a YouTube channel, a Facebook page and a TikTok profile in April 2022, where she shares Wahaj’s journey with TCS and his day-to-day activities.

“I had only two options in hand — either to hide Wahaj from the rest of the world in fear of judgement, or to be fearless and present him like my precious warrior and raise him as a confident child,” she says. “I opted for the latter, and I am glad about the decision I made.”

Tehmina is grateful for the love and support her family and in-laws have extended since the birth of Wahaj. “Not even once has anyone ever said anything against Wahaj. They all love him so dearly. Probably, this is the reason I have stood like a rock,” she explains.

She does, however, occasionally come across mean people and hateful comments. One of the comments on her social media called her son a punishment for her wrongdoings, to which she responded forcefully. “I answer all the questions and comments confidently. Why should I feel embarrassed for something that is created by Allah and is beyond my control?” 

Tehmina wants Wahaj to be a confident, compassionate, independent and well-rounded human being. She urges mothers of children with distinct qualities not to give in to social pressure, judgements and comments, and to keep their spirits high. “You have got this,” she says. 

The family of six does not consider Wahaj as a ‘special’ child; they call him their ‘precious’ child, who is the apple of everyone’s eyes.

The writer is a freelance journalist.
X: @Tanzeel09. 

Published in Dawn, EOS, October 1st, 2023