Black belt in taekwondo, grade 8 in piano: Teen excels despite condition that limits movements
(From top) Mr Lai Shu Hau, 46, and Ms Liew Pui Yee, 51, with their 15-year-old daughter Jia Chi.
SINGAPORE – At 15 , student Lai Jia Chi holds a black belt in taekwondo and a 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, her father Lai Shu Hau told The Straits 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 paediatrician, 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 febrile fever caused by an infection and the level of uric acid in her urine was very high.
Still concerned, Mr Lai asked for a DNA test to be done. That was when they found out that Jia Chi has GA1.
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'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 meats. We just thought that she was a fussy eater, but it was her body just not wanting to have protein,' Mr Lai said.
GA1 affects the body's ability to break down three types of amino acids – lysine, hydroxylysine, and tryptophan – which are commonly found in some protein-rich foods such as meat and fish.
These amino acids must be broken down as the body cannot store them in large quantities.
When the body cannot properly break down the amino acids, a toxic byproduct called glutaric acid builds up .
Associate Professor Tan Ee Shien, who heads Genetics Service at KK Women's and Children's Hospital, said glutaric acid can cause serious health complications, particularly affecting the brain.
She explained that the breakdown of amino acids requires an enzyme called glutaryl-CoA dehydrogenase (GCDH). Every person inherits two copies of the GCDH gene – one from each parent – which provide instructions for producing the enzyme.
Lai Jia Chi, 15, an IP student from Temasek Junior College, counts herself lucky that she is leading a normal life despite having GA1.
ST PHOTO: ARIFFIN JAMAR
'With variations in both copies of the gene, the enzyme does not work as it should, leading to a buildup of substances that can affect a person's health,' Prof Tan said.
GA1 is considered rare, affecting about one in every 100,000 newborns worldwide.
Babies with GA1 can appear completely healthy at birth and develop normally in their early months.
'Without screening and early intervention, the first sign that something is wrong could be a sudden and devastating metabolic crisis, often triggered by a common illness like fever or infection,' Prof Tan said.
'These crises can cause stroke-like episodes that may lead to permanent brain damage, affecting movements and development. This is why early detection through newborn screening is so valuable - allowing for preventive measures to be put in place before any crisis occurs, protecting the child's health and development.'
When detected early, those with GA1 can develop normally and be effectively managed through strict dietary control, such as low protein intake, special medical formula and supplements to boost carnitine – which is essential for preventing muscle weakness as well as heart and liver problems.
Regular metabolic monitoring and established emergency protocols in times of illness are also essential for their care.
Mr Lai said: 'We researched the condition and it turned out to be very scary. We had to limit her amount of protein intake, otherwise GA1 can cause muscle weakness, spasticity, and dystonia (that affects motor skills).'
He noted that many individuals with the condition in Singapore are now in wheelchairs.
As for Jia Chi, her condition was caught early enough, preventing any brain damage.
Her parents made it their priority to ensure that she leads a normal and healthy life. They controlled her diet and made sure she kept to her regimen of medication and supplements. During her early years, they spent $400 a month on supplements.
'We measured everything she ate and even calculated the percentage of her carbohydrate intake' to prevent other diseases such as diabetes, said Jia Chi's mother Liew Pui Yee, a 51-year-old adjunct lecturer at a polytechnic.
Mr Lai added: 'The one thing that her mother and I are mindful of is that this condition can cause reduced muscle tone. (Since) we could not change that with meat intake, we made up with exercises and taekwondo classes.'
The couple also learnt that the disorder can lead to brain damage, particularly affecting the basal ganglia, which is crucial for movement.
'That was why we sent her for piano lessons. She surprised us by doing well and she is now in grade 8,' Ms Liew said.
Jia Chi is currently an Integrated Programme student at Temasek Junior College.
'Sometimes I forget I have the condition, especially when I am in taekwondo class,' she said.
At times, her muscles still twitch, and that serves as a reminder to Jia Chi and her parents that she still has the condition.
Prof Tan was amazed by the teenager's achievements.
'Her obtaining a black belt in Taekwondo and reaching Grade 8 in piano are truly remarkable. These accomplishments are especially significant because GA1 can affect motor skills and coordination, further underscoring the importance of early detection and appropriate medical care,' she said.
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