Teen excels in taekwondo, piano despite disorder linked to motor skills

Thankfully the condition was caught early, or it might have led to permanent brain damage

- Judith Tan

At 15, student Lai Jia Chi holds a black belt in taekwondo and is doing Grade 8 in piano — accomplishments that might not have been possible if her rare condition had not been detected early.

Jia Chi has glutaric acidemia type 1 (GA1), an inherited metabolic disorder that prevents the body from properly breaking down certain amino acids. If left unmanaged, the condition will cause brain damage and movement difficulties.

She was born in 2010, when screening for metabolic and heritable diseases in newborns was already available. But her parents did not want her to have her blood taken at such a young age.

Her condition was detected when she was almost three years old, her father Lai Shu Hau told The Sunday Times.

"One night, she became very ill and her fever was at 41 deg C. We tried to wake her up the next morning, but she was unresponsive and her eyes were rolled back. We rushed her to a nearby pediatrician, who then called an ambulance," said the 46-year-old manager in the oil and gas industry.

Jia Chi, the older of two daughters, was diagnosed with fever caused by an infection, and with a very high level of uric acid in her urine.

Still concerned, Mr Lai asked for a DNA test to be done. That was when they found out that Jia Chi had GA1.

"She was showing symptoms in the first two years of her life. She did not want to drink milk. Neither did she want to eat meat. We just thought that she was a fussy eater, but it was her body just not wanting to have protein," Mr Lai said.