Introduction to a rare diagnosis
In 2020, a Singaporean family welcomed their daughter, Rania, with a quiet start to life. The newborn did not cry, and her initial signs were subtle but concerning, prompting a rapid medical response. What followed was a complex medical journey that would reveal a rare genetic condition known as Kaufman oculocerebrofacial syndrome (KOS).
What is Kaufman oculocerebrofacial syndrome (KOS)?
KOS is a congenital disorder caused by mutations in both copies of a single gene. In practical terms, it means both parents are carriers, usually without symptoms, and their child may inherit the condition. Fewer than 100 KOS cases have been documented worldwide, with only a fraction described in scientific literature. The syndrome presents with a constellation of features that vary in severity among individuals, including distinctive facial features, eye and ear anomalies, feeding and breathing difficulties, and developmental delays.
Why prenatal testing may miss KOS
Medical experts emphasize that routine prenatal tests do not typically detect KOS. Standard screenings focus on chromosomal abnormalities, while KOS involves specific gene mutations that require targeted genetic testing for confirmation. This gap means some families learn of KOS only after birth, as was the case for Rania.
Rania’s medical journey: from NICU to ongoing care
After birth, Rania required immediate respiratory support due to a floppy airway and other anomalies common in KOS. She underwent surgeries to reshape excess tissue and ultimately needed a tracheostomy to breathe. Her care team also addressed feeding issues, including the use of a gastronomy tube and corrective surgeries to manage reflux.
Genetic testing confirmed KOS, shaping the family’s understanding of Rania’s condition and her future needs. Ophthalmology, ENT, and nephrology specialists collaborated to map out a plan for her overall health. While Rania’s airway challenges are no longer as acute, she still uses a tracheostomy to manage respiratory symptoms, especially during illness.
Kidney concerns and the long view
Rania also faces renal hypoplasia, meaning both kidneys are smaller than normal. Her current kidney function is around 70 to 80 percent, with the possibility of future kidney disease or the need for a transplant depending on how her condition evolves. Nephrologists monitor her kidney health closely, preparing the family for potential interventions should renal function decline.
Family resilience and the emotional journey
Rania’s parents describe a heartbreaking but hopeful path. The family had two healthy older boys, which made the initial diagnosis even more challenging. The father emphasized strength rooted in faith and unity, while the mother described the emotional complexity of navigating a child’s rare condition. The family has faced a second sorrow with the loss of a newborn son in 2022, also connected to the same genetic disorder, underscoring the fragility of life and the unpredictable nature of KOS.
Looking ahead: living with KOS
Today, Rania is five years old and remains a thriving, boisterous child in many ways, though her medical needs continue. Medical teams hope to advance plans to safely reduce her dependence on the tracheostomy as airway management improves. The family remains focused on medical follow-ups, therapies, and daily care that supports Rania’s development and quality of life.
Why this story matters
Rania’s experience sheds light on rare diseases like KOS, highlighting gaps in prenatal screening and the importance of genetic testing when unusual neonatal issues appear. It also illustrates the resilience of families confronted with difficult diagnoses and the essential role of a multidisciplinary medical team in coordinating care for complex congenital conditions.
Conclusion
While the path ahead for Rania and her family is uncertain, their perseverance demonstrates the enduring power of hope, medical collaboration, and community support in managing rare genetic disorders.
