“Our intention was to get him an IV drip because his lips were dehydrated, and he couldn’t keep anything down,” said his father, Mr Richard Leow, a director at a bank.
At KKH’s children’s emergency department, the doctors suspected that he had severe sepsis, and sent him to the ICU. Dr Bianca Chan, a consultant in KKH’s rheumatology and immunology service, said the ICU team suspected an immunodeficiency and referred the boy early for an immunology evaluation.The initial screening suggested he might have X-linked Agammaglobulinemia , where the body is unable to produce the antibodies to fight infections.
Ashton’s diagnosis was confirmed with blood tests, which showed he did not have protective antibodies despite his childhood vaccinations, she said.As it is a mutation on the X chromosome, the worry was that Ms Teo was the carrier. Concerned for her older sons, she got tested, but the tests were negative.
Dr Chan said XLA patients are dependent on lifelong regular infusions of donated antibodies. This can be in the form of monthly intravenous immunoglobulin at the hospital or weekly subcutaneous immunoglobulin at home, though the latter is costlier with no subsidy available currently and not suitable for all, she said.
Ashton’s parents decided to share their story to mark Rare Disease Day on Feb 28, which seeks to raise awareness about the impact that little-known conditions have on patients’ lives. Ms Teo is also now a volunteer corporate fund-raiser for Rare Disorders Society , or RDSS, a charity set up in 2011.
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