Child with genetic disorder lives with hole in her windpipe

Her future weighs heavy on parents' minds; younger brother with same condition died

- Judith Tan Correspondent

When Rania Safiyya Ridzwan was born in 2020, there was eerie silence in the delivery room she did not cry.

"She barely made a sound, and the doctors took a while to pink her up," her mother, Madam Sri Syazwani Mohd Yazid, told The Straits Times, referring to the colour a newborn's skin turns to when blood starts circulating properly.

The 34-year-old teacher said that although a stream of doctors had rushed into the delivery room, she had not been worried as the pregnancy had been uneventful and all the prenatal scans were normal.

"I was still high on the adrenaline of having given birth, so I did not think anything was wrong," she added.

Madam Syazwani was later told that Rania, her third child, was very sick.

"They rushed me in a wheelchair to the Nicu (neonatal intensive care unit), where my daughter was intubated and put on 100 per cent oxygen and (nitric oxide)," she said.

"She had a floppy airway and would turn blue whenever the doctors removed the tube. The doctors had to perform surgery twice to remove and reshape excess tissue to improve Rania's breathing. She eventually needed a tracheostomy (hole in the windpipe) to breathe," Madam Syazwani said.

About five weeks after Rania's birth, the family was referred to Adjunct Associate Professor Chin Hui-Lin, a geneticist with the department of paediatrics at Khoo Teck Puat National University Children's Medical Institute (KTP-NUCMI) at National University Hospital.

She ordered several genetic tests and one came back positive for a rare genetic disorder called Kaufman oculocerebrofacial syndrome (KOS).

"It is a congenital disorder which arises because the affected person carries a mutation in both copies of the gene. That is, both parents are genetic carriers for such a rare condition and, as carriers, they have no symptoms," Prof Chin said.