Rare genetic state holds him smiling, laughing and hugging others

Singapore – Laughter fills the consulting room whenever Lucas Oon, 17, has the team that manages his care – pediatric neurologist Jeremy Lin, assistant assistant Kimberly Quek and physiotherapist Melody Por.

Lucas has Angelman (AS) syndrome, a rare neurogenetic condition characterized by a happy, frequent smile and laughter and an easily excitable nature.

“He is happy every day, always smiling and laughing without worries in the world,” said his mother and his full -time caretaker, Mrs. Vanessa Oon.

In fact, Lucas is such a social butterfly, who loves to hug, that sometimes scares foreigners trying to attract them to interact with them, Mrs. Oon told The Straits Times.

It is difficult for Mrs. Oon, 49, to manage Lucas’s enthusiasm when it comes to friends with strangers.

“I often needed to explain his condition. While most were nice, they were still the ones who felt scared or angered. One really threatened to call the police, ”she said.

Beyond the happy behavior, there are Sombre realities: Lucas has physical and intellectual disabilities. It is based on gestures to communicate with others. Although the condition does not affect life expectancy, it is incurable.

As is the case in one of 15,000 living births and is caused by the loss of the function of one of the genes (Gena Uber3a) In the 15th chromosome inherited from the mother.

“(The state) becomes more obvious only when the child grows up … In the context of Singapore, we could look at one or two cases every year,” said Dr. Lin, who works at Khoo Teck Puat – the medical institute for national children at the National University.

Dr. Lin, who is also an assistant professor at the Nus Yong Loo Loo School, said there is not much awareness of the affection until recently, when Irish actor Colin Farrell spoke public for the first time about his eldest son James, who has.

Farrell also launched a base to support adult children with intellectual disabilities through advocacy, education and innovative programs.

Dr Lin said he is usually diagnosed after the child is two or three years old. There were two or three cases of children with affection in Singapore, who were labeled as having brain paralysis, “until people brought them back with a different lens,” he added.

Dr lin said The wrong diagnosis could have occurred, because both conditions share superimposed symptoms, and cerebral paralysis is much more common than AS.

Unlike typical cases, Lucas was diagnosed at five months.

“Lucas’s case was very unique. He left directly for genetic tests at first and so he was his own, ”said Dr. Lin.

Mrs. Oon remembered the first confiscation that Lucas had at two months.

“(Was caused by) a fever from an infection of the urinary tract. He took the drugs prescribed by a doctor when he developed seizures and trembles, ”she said.

The series of seizures eventually caused Lucas’s doctors to order genetic tests, which were sent abroad for analysis.

After a three -month wait, Lucas was officially diagnosed with AS.

He was sent to the early intervention program for infants and children at the Early Childhood Development Agency. After turning two years, he participated in the Rainbow Center, where he learned to go and swim.

Through early intervention, physiotherapy and occupational therapy, Lucas was able to improve his motor skills and communicate with his mother through text books.

“There are several basic features, such as (difficulty with) expressive speech. These children (with AS) can understand more than they can express.

“They also have problems with their feet and walking. If they are capable, (involves) walking on the basis and unstable movements, ”said Dr. Lin.

“Of course, the feature that stands out the most is happiness. I always laugh, to the extent that some people can say inappropriately. “

Lucas was 10 years old when he was sent to Dr. Lin and was under the care of his team over the past seven years.

“The main problem that brought him to see us was actually repeated seizures. It is very common for patients to have epilepsy and, at that time, it may have gone through puberty, there have been a lot of unprovocated seizures (and) he was hospitalized, ”said Dr. Lin.

“I felt that I need to manage or control its epilepsy, because it affected the quality of life.”

Dr Lin mentioned that there is a limit to the amount of drugs that can be given due to potential side effects on the liver and kidneys.

“We started thinking about non-pharmacological (treatment), so we implanted a vague nervous stimulator on Lucas’s left chest. Is a battery operated device that is supposed to take seven years and provide electric currents to try to stop seizures.

“He has had the device probably for almost five years, and his confiscation control has improved significantly,” he said.

His medical care team is also focused on improving Lucas’s mobility as part of a holistic care plan.

“It grew very high and then it was when all orthopedic complications installed and Started to lose mobility. Then I involved physiotherapists, “said Dr. Lin.

Lucas recently underwent surgery to release the tendon on the foot to improve his mobility.

Ms QuekAssistant assistant clinician, He worked with Dr Lin to calibrate the settings of Lucas’s stimulator. He also guided Mrs. Oon about how to deal with the challenges of raising a child with special needs. Such problems include difficulty in managing the child when he gets older as well as the career’s depression.

Today, Lucas is capable of going with the assistance of a peace step, which allows him to enjoy outdoors.

Lives in a two-room rental apartment with his mother And a bigger brother, who is in the government service. Mrs. Oon said she feeds and changes Lucas on her own, without giving additional details about their lives.

Like other parents with children who need professional care, Mrs. Oon is worried about Lucas’s future.

Now by participating in Awwa school, he returns 18 and will be outside the system by the end of 2025.

“I hope there will be a subsidized day care centers for adults with special needs, so that the older parents can leave them there during the day … and maybe a house when parents are no longer around,” she said.

“I hope he will always be happy and that he will no longer suffer seizures.”

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