查看文章

To the Editor: Rare diseases (RD), including 7 000 conditions characterised to date,^[-] are defined as conditions affecting <1 in 2 000 of a population. It is estimated that RD collectively affect 4.2 million, or 1 in every 15 South Africans, of whom 50 - 70% are children.^[,-] Those impacted by RD face significant and distinct challenges, including an extended ‘diagnostic odyssey’ of ≥5 years. Over 80% of RD are genetic in origin, and many are life-limiting and progress swiftly – resulting in premature death or lifelong disability. Less than 10% of RD have a treatment approved by the US Food and Drug Administration (FDA), and the limited treatments available are often inaccessible and costly, with poor clinical management.