To the Editor—We write in response to an article that highlighted the experience of two Cantopop artists whose son was diagnosed with a rare disease.1 Because of its complexity, immediate discussion is warranted of the critical aspects of managing rare diseases in Hong Kong.

Rare disease, which impacts about 300 million individuals globally, encompasses a number of medical conditions across different specialties.2 Neurological disorders and metabolic causes account for 40% and 10% of rare diseases, respectively, with tuberous sclerosis and spinocerebellar ataxia being examples in Hong Kong.3 In general, there is a lack of awareness about rare diseases among healthcare professionals and the public, with consequent delayed diagnosis and treatment.3 Families who cope with diseases often encounter emotional and psychological problems that are compounded by a lack of specialised psychosocial support and palliative care access.4 Moreover, the financial strain of managing diseases is substantial; drug costs for rare diseases are reportedly up to 13.8 times higher than those of more common ailments.3 It is crucial to provide comprehensive care for rare disease patients and their families.

The healthcare system for rare diseases in Hong Kong is not as advanced or well equipped as comparable centres in the US2 and Mainland China.5 It faces challenges at different levels. Key issues include insufficient patient support, absence of a specific registry, limited availability of genetic testing, and a high financial burden for patients. To bridge these gaps, Hong Kong could learn from the well-established networks and care models of the US,2 as well as the central registry in Mainland China,5 and adopt supportive policies and financial assistance programmes. As a starting point, the Hong Kong Genome Institute (https://hkgp.org/en/) provides a strong platform from which to promote public awareness of rare diseases in Hong Kong. In addition, with the newly established Genetics and Genomics (Medicine) Fellowship of the Hong Kong Academy of Medicine,6 genetic testing and counselling that target rare disease could be streamlined.

All authors contributed to the letter and critical revision of the letter for important intellectual content. All authors had full access to the data, contributed to the study, approved the final version for publication, and take responsibility for its accuracy and integrity.

The authors have disclosed no conflicts of interest.

This letter received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

1. Cheng L. Hong Kong star couple Stephanie Ho, Fred Cheng share story of son’s Angelman syndrome diagnosis to raise public awareness. South China Morning Post. 2024 Jun 2: Health & Environment. Available from: https://www.scmp.com/news/hong-kong/health-environment/article/3265045/hong-kong-star-couple-stephanie-ho-fred-cheng-share-story-sons-angelman-syndrome-diagnosis-raise. Accessed 17 Feb 2025.

2. Baynam G, Hartman AL, Letinturier MC, et al. Global health for rare diseases through primary care. Lancet Glob Health 2024;12:e1192-9. Crossref

3. Chung CC, Ng NY, Ng YN, et al. Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study. Lancet Reg Health West Pac 2023;34:100711. Crossref

4. Chan KY, Yap DY, Singh Harry Gill H. Rethinking palliative care in psychiatry. JAMA Psychiatry 2023;80:1089-90. Crossref

5. Guo J, Liu P, Chen L, et al. National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses. Orphanet J Rare Dis 2021;16:515. Crossref

6. Hong Kong Academy of Medicine. Specialty descriptions. 2024 Feb 6. Available from: https://www.hkam.org.hk/sites/default/files/PDFs/2024/SPECRE25%20(Specialty%20descriptions%20-20240206).pdf?v=1736316996530. Accessed 6 Feb 2025.