The inspiring journey of Zayd: a brave 5-year-old battling MCOPS12

contributed by Sadia Choudry

Images courtesy of Sadia

In a world where stories of courage and resilience shine through adversity, the tale of 5-year-old Zayd stands out as a testament to the indomitable human spirit. He is a young boy with a rare genetic disorder called MCOPS12 who has captured the hearts of those around him, leaving an indelible mark with his unwavering determination and infectious joy for life. By sharing his story and journey, and highlighting the challenges he faces and the incredible strength he embodies, we hope everyone sees this amazing little boy for who he is.

Zayd was born in Pakistan and his inability to make eye contact at the young age of 3 months raised concerns for his mum Sadia. Desperate for answers, she sought help from numerous doctors, but their efforts to diagnose his condition were in vain. Confronted with the daunting reality of her son’s undiagnosed condition, she made the courageous decision to move back to the UK, determined to provide him with the best possible care and support.

After enduring countless hospital appointments and the passage of two long years, the eagerly anticipated diagnosis finally arrived. Sadia, fuelled by unwavering determination, embarked on a transformative journey to ensure that her beloved son could live a long, healthy, fulfilling and joyful life, despite the challenges that lay ahead.

Facing numerous obstacles in his daily life, particularly in the development of his motor skills, his progress has been slow. Ongoing therapies and interventions have played a crucial role in his advancement. His motor skills began to show slight improvement at the age of 1 ½ when he started gaining neck control and could hold his head up. However, at 5 years old, he still cannot crawl, stand or walk. It was on 14th June this year that a remarkable milestone occurred, Zayd surprised his mother and sisters as he sat unaided for fifteen minutes, a moment that they will forever cherish.

“I want to jump, Mama,” said Zayd one day as he sat on the floor. His curiosity and longing to participate in activities like playing football or jumping on a trampoline sparked numerous discussions together with his mum. With a deep understanding of his desires, Sadia said, “Come on then, let’s jump together!” She playfully bounced while sitting next to him. Zayd, however, said, “Nooooo, I want to jump on my legs.”

These heartfelt conversations highlight his yearning to experience the world in ways that may seem unattainable to him. His mother’s empathy and encouragement remain constant as they navigate these conversations, continuously seeking ways to support his dreams and aspirations.

His mum, along with a team of dedicated medical professionals, works tirelessly to provide him with the necessary treatments and therapies to enhance his motor abilities and overall well-being. This arduous journey has involved the unwavering dedication of physiotherapists, occupational therapists, speech and language therapists, dieticians, and regular consultations with doctors from three different hospitals. Their combined efforts have brought Zayd to where he is today.

Despite the physical and cognitive obstacles he faces, his spirit remains unbreakable. While he is mostly fed through a feeding tube, he eagerly desires to engage in the family dinner experience, longing to see and smell the food his loved ones enjoy. His infectious laughter and radiant smile have the power to brighten even the darkest of days. His insatiable curiosity and eagerness to learn have endeared him to his teachers and therapists, who are amazed by his resilience and thirst for knowledge. Recognizing the potential limitations in his ability to write, he is provided with IT lessons at school, enabling him to participate alongside his classmates during writing sessions.

He has been enrolled in the Halliwick Swimming Programme, a specialized programme designed for children who have limited mobility or difficulty walking. This program focuses on empowering individuals to become independent and confident in the water.

Initially he would cry incessantly when he first started going to hospitals, the unfamiliar surroundings and overwhelming experiences were understandably distressing for him. However, as the years passed, his countless appointments and admissions have made hospitals feel like a second home to him.

His medical history is extensive, with a series of procedures and surgeries shaping his path. He was born with cararacts in both eyes and has undergone surgery to remove them from one eye. He has faced significant challenges related to his vision. Additionally, he has undergone surgeries for diaphragmatic hernia, orchidopexy, and gastrostomy, each requiring immense strength and resilience from both himself and his mother.

Zayd courageously faces daily challenges presented by both dystonia and spasticity, two neurological conditions that affect his muscle control. These conditions result in involuntary movements and muscle stiffness, making everyday tasks more strenuous for him. In addition to dystonia and spasticity, he has also been diagnosed with Chiari 1 malformation, a condition characterized by the downward displacement of the cerebellar tonsils into the spinal canal. This condition brings its own set of challenges, requiring careful monitoring and management to mitigate its effects on his overall well-being. Moreover, he faces the additional hurdle of having both hips displaced. This further complicates his mobility and adds to the physical limitations he must overcome. However, his unbreakable spirit and the support of his loved ones provide him with the strength to persevere. Zayd’s journey has not been one travelled alone. His family has found solace and strength through connecting with support groups and organizations that specialize in rare genetic disorders. One such invaluable resource is the MCOPS12 community, run by parents of individuals with MCOPS12. This close-knit support group provides a network of understanding and empathy, offering guidance and resources to families navigating similar challenges. Through this community, the family has found a sense of belonging and a shared understanding that has been instrumental in their journey of resilience and hope. Together, they offer unfaltering support, share experiences, and provide a lifeline of compassion to one another.

This network of support not only strengthens their bond but also serves as a reminder that they are not alone in facing the unique hurdles posed by rare genetic disorders. Fundraisers, awareness campaigns, and events have been organized to raise funds for research and promote a greater understanding of this rare genetic disorder.

Zayd’s story serves as an inspiration to all who encounter it. Despite the difficulties he faces, his journey is a testament to the power of love and unwavering determination. The family, along with the support of their community, remains steadfast in their commitment to providing him with the best opportunities for growth and progression.

His journey with MCOPS12 shines a light on the strength and resilience that exists within the human spirit. Through his infectious laughter and unyielding determination, he teaches us the importance of cherishing every moment and embracing life’s challenges. His story serves as a reminder to advocate for and support individuals and families facing rare genetic disorders, fostering a more inclusive and compassionate society.

MCOPS12 is an ultrarare neurological disease caused by a mutation in the retinoic acid receptor beta (RARB) gene and with only 54 known cases around the world. Due to the rarity of this disease, there is very limited information and no treatment at all. The most common symptoms of MCOPS12 are microphthalmia, severe (progressive) movement disorders and intellectual disability. Movement disorders may include spasticity, dystonia and chorea. In addition, malformations such as incomplete lung development (pulmonary hypoplasia), defects of the cerebellum (Chiari type I malformation), and a defect/hole in the diaphragm (diaphragmatic hernia) have been observed.

Cure MCOPS12 is a registered non-profit organisation dedicated to improving the lives of children and families affected by MCOPS12. More information can be found: