Imagine holding your newborn baby, only to be met with an unsettling silence instead of the expected cry. This was the reality for Madam Sri Syazwani Mohd Yazid when her daughter, Rania Safiyya Ridzwan, was born in 2020. But here's where it gets even more heartbreaking – Rania’s birth was just the beginning of a journey filled with medical challenges, rare diagnoses, and unimaginable loss. Two of her children were diagnosed with a rare genetic disorder, and tragically, her son passed away just months after birth.
In the delivery room, Rania’s silence was alarming. “She barely made a sound, and the doctors took a while to get her color right,” Madam Syazwani recalled, referring to the pinkish hue a newborn’s skin should have when blood circulation begins. Despite a flurry of medical professionals rushing in, the 34-year-old teacher remained surprisingly calm. “I was still high on the adrenaline of giving birth,” she explained. “I didn’t think anything was wrong.” But something was terribly wrong.
Rania was rushed to the Neonatal Intensive Care Unit (NICU), where she was intubated and placed on 100% oxygen and nitric oxide. And this is the part most people miss – NICU isn’t just a place for premature babies; it’s a lifeline for newborns battling severe health conditions. Rania’s airway was floppy, causing her to turn blue whenever the tube was removed. She underwent two surgeries to reshape excess tissue and improve her breathing, eventually needing a tracheostomy—a hole in her windpipe—to survive.
Five weeks after her birth, the family met Adjunct Associate Professor Chin Hui-Lin, a geneticist at Khoo Teck Puat – National University Children’s Medical Institute (KTP-NUCMI). Genetic tests revealed Rania had Kaufman Oculocerebrofacial Syndrome (KOS), an ultra-rare disorder with fewer than 100 recorded cases worldwide. Here’s the controversial part: KOS is caused by mutations in both copies of a gene, meaning both parents are carriers—yet they show no symptoms. “Standard prenatal tests wouldn’t catch this,” Prof Chin explained. “They look for extra chromosomes, not individual gene mutations.”
KOS brings a host of challenges: severe intellectual disabilities, distinctive facial features, and congenital anomalies like malformed eyes, hearing loss, and structural heart defects. Rania’s most severe issue was her faulty airways, which required constant breathing support. Even her slightly smaller eyes—a subtle sign of KOS—weren’t visible on antenatal scans. Most of her feeds were through a gastronomy tube, and she needed surgery to prevent reflux.
Now five, Rania still has her tracheostomy, though she needs less breathing support. “It helps her mother suction out excess phlegm when she’s sick,” Prof Chin noted. Doctors hope to close the tracheostomy eventually, but Rania also faces another battle: bilateral renal hypoplasia, a condition where both kidneys are underdeveloped, potentially leading to kidney failure. “She still has 70-80% kidney function, but a transplant may be needed later,” said Associate Professor Ng Kar Hui.
Rania’s father, Mr. Ridzwan Kamis, was shocked by the diagnosis. Their first two children, both boys, were healthy, and there was no hint of Rania’s condition. “I had to be strong for my family,” he said, crediting his faith for his resilience. Madam Syazwani, initially worried her husband would “freak out,” was moved by his support. “When he hugged me and said, ‘This is our journey together,’ I knew we’d get through it,” she recalled, tears in her eyes.
In 2022, Madam Syazwani became pregnant again. At 22 weeks, tests revealed the fetus—a boy—also had KOS, affecting his heart. Doctors warned he might not survive pregnancy or birth. Abortion wasn’t an option for the couple. Their son, Muhd Ruwaiq Syaihan, spent nine months in the hospital after birth, undergoing surgeries, including two open-heart procedures. “He was cheeky and affectionate,” Madam Syazwani remembered. “His heart rate stabilized whenever I visited.” But tragically, Ruwaiq passed away at home on his mother’s birthday, despite their best efforts.
Rania, now a boisterous child with her brothers, brings joy to her family. “My second son sneaks into her bed to sleep beside her,” Madam Syazwani shared. Yet, Rania’s future remains uncertain. “We don’t know if she’ll walk or talk, but we’ll figure it out together,” her mother said.
Here’s a thought-provoking question: With advancements in genetic testing, should parents be ethically obligated to screen for rare disorders like KOS, even if it means facing difficult decisions? Share your thoughts in the comments—this is a conversation that deserves to be had.
