Introduction: A Silent Beginning and a Hidden Diagnosis
When Rania Safiyya Ridzwan was born in 2020, the delivery room felt unusually quiet. She did not cry, a sign that something was amiss, and the newborn’s first moments required urgent attention in the neonatal intensive care unit. Her mother, Madam Sri Syazwani Mohd Yazid, recalls the shock: a baby who did not immediately start breathing on her own can be a sign of serious underlying issues. What followed were weeks of medical interventions, uncertainty, and the slow unveiling of a rare genetic disorder that would shape the family’s life for years to come.
The Medical Journey: From NICU to Genetic Diagnosis
Rania’s early days were marked by critical breathing difficulties. She required intubation, high-oxygen support, and surgeries to remove excess tissue in her airway, eventually culminating in a tracheostomy to sustain her breathing. A team of specialists, including genetics experts from Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI) at National University Hospital, ordered genetic tests to look beyond routine prenatal screening, which cannot detect every rare condition.
One test revealed a positive result for Kaufman oculocerebrofacial syndrome (KOS), a rare congenital disorder caused by mutations in both copies of a gene. According to Adjunct Associate Professor Chin Hui-Lin, a geneticist involved in Rania’s care, most prenatal tests screen for common conditions but not for the specific gene changes seen in KOS. Fewer than 100 KOS cases have been reported globally, with only about 36 documented in scientific literature. The condition manifests in a spectrum of features, including distinctive facial structure, intellectual challenges, and various congenital anomalies, with the severity of each case varying widely.
Understanding KOS and Its Impact on Daily Life
Rania’s case illustrates why standard prenatal tests are not designed to detect KOS. Beyond facial features, KOS can involve respiratory, feeding, and cardiac issues. In Rania’s situation, airway malformations required continuous attention and led to a tracheostomy. She also faced feeding difficulties that necessitated a gastronomy tube and corrective surgeries to prevent reflux. Ophthalmologic and auditory challenges, along with potential heart and kidney involvement, are part of the broader KOS landscape, underscoring the need for multidisciplinary care and long-term planning.
A Family’s Resilience: Two Pregnancies, Two Paths
Rania’s parents, Sri Syazwani and Ridzwan Kamis, faced another heart-wrenching moment in 2022 when they discovered they were pregnant again. The new baby, Muhd Ruwaiq Syaihan, carried the same genetic risk. At 22 weeks, doctors warned that the foetus’s heart would be affected, and the family chose to continue the pregnancy. Muhd Ruwaiq Syaihan was born with complex heart conditions and spent nine months in hospital undergoing surgeries, including two open-heart procedures. He could not survive home recovery, dying on the mother’s birthday after efforts to restart his heart at the hospital failed. The family describes a sense of shared grief and steadfast support for one another through this painful journey.
Looking Ahead: What the Future Holds for Rania
Now five years old, Rania remains a complex medical case but is increasingly gaining strength. She still relies on a tracheostomy for breathing control, especially during illness, and requires ongoing respiratory and ENT follow-up. Her kidneys also present a long-term concern; bilateral renal hypoplasia means reduced kidney function, with the possibility of a transplant if kidney health declines. In addition to physical health, the family remains focused on education, social development, and a supportive home environment that allows Rania to reach her full potential at her own pace.
Family, Faith, and Community: The Human Side of a Rare Diagnosis
In sharing their story, Sri Syazwani and Ridzwan emphasize the emotional toll of raising a child with a rare syndrome while contending with medical costs, hospital visits, and the emotional weight of loss. The parents lean on each other, their faith, and the hospital team that has guided them through diagnosis, surgeries, and daily care routines. They also acknowledge the importance of hope, practical planning, and seeking out resources and support networks that can assist families facing similar journeys.
Conclusion: A Family’s Ongoing Journey with KOS
Rania’s life — and the life of her family — is a reminder of the resilience of parents and children confronting rare genetic disorders. While medical science has identified KOS and outlined its potential challenges, each patient’s trajectory remains unique. With multidisciplinary care, patient and family support, and a commitment to nurturing her development, Rania’s family continues to navigate a future that is uncertain yet full of possibility.
