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Taiwan and the United States screen newborns for a list of rare diseases that are treatable. As 50 per cent of rare diseases are childhood-onset, screening services can provide early identification and treatment for some rare diseases.

Unlike Taiwan and the United States, Hong Kong has no law for rare diseases and no definition. Advocates believe there would have to be a definition if legislation is enacted. Although Lee has reservations about legislation he does believe rare disease definition is essential as policy will follow the definition, and resource allocation follows policy.

Lee accepts that cost-effectiveness would have to be considered in any policy but he says there are three quantifiable and objective indicators used worldwide to consider whether to provide a new treatment to patients, namely life expectancy, quality of life and prognosis.

For Terry Lai, ERT has enabled him to live an active life and hold down a job. It has undoubtedly improved his quality of life. Lai passed his test in September and is guaranteed treatment for a year. In the meantime, he will prepare for next year’s test by jogging, swimming and playing basketball. He for one, knows that the key to health comes with a hefty price tag and cannot be taken for granted.

Edited by Silvia Li