AJGH Nexus - Volume 17 2023

AMSA Healthy Communities Article Competition 2023
On the Outskirts
By Lim Yun Fei, Louis
Rare diseases (RDs) encompass diverse conditions, each affecting a small subset of
individuals.[1] Despite their rarity, the collective number of individuals “living
rare” is equivalent to the population of the third largest country.[2]
The limited healthcare accessibility for this marginalised group is a significant
concern as it has adverse health, psychosocial, and economic impacts on patients,
their families, and carers.[1] Major contributing factors include the lack of
awareness, education and professional training about RDs.[3] Furthermore, even
when treatments are available, the costs can be exorbitant. Due to such challenges,
RD patients often undergo long diagnostic journeys, with an average period of 4–5
years.[1] In some cases, it can take over a decade. Despite their extensive and
expensive journeys, RD patients often remain undiagnosed or even misdiagnosed,
which further adds emotional distress to them and their families.[4]
In 2019, the United Nations pledged to alleviate the burden of RDs as part of
achieving universal health coverage. Subsequently, they adopted a resolution in
2021 to recognise the needs and challenges of RD patients and their families,
including healthcare access.[5] This resolution highlights the increasing global
awareness of the unique challenges faced by the RD community and the
importance of equitable healthcare for this marginalised population. Today, I
challenge you to start learning about RDs and to join in creating a more inclusive
and compassionate healthcare system.
References
1. Chung CCY; Hong Kong Genome Project, Chu ATW,
Chung BHY. Rare disease emerging as a global public
health priority. Front Public Health. 2022;10:1028545.
Published 2022 Oct 18. doi:10.3389/fpubh.2022.1028545
10, 1028545. https://doi.org/10.3389/fpubh.2022.1028545
2. EURORDIS. (2021, May). #Resolution4Rare: Global
campaign for the first UN Resolution on Persons Living
with a Rare Disease. Retrieved from:
https://www.eurordis.org/resolution4rare-globalcampaign-for-the-first-un-resolution-
on-personsliving-with-a-rare-disease/
3. Bhattacharya K, Millis N, Jaffe A, Zurynski Y. Rare
diseases research and policy in Australia: On the journey
to equitable care. J Paediatr Child Health. 2021;57(6):778-
781. doi:10.1111/jpc.15507
4. Marwaha S, Knowles JW, Ashley EA. A guide for the
diagnosis of rare and undiagnosed disease: beyond the
exome. Genome Med. 2022;14(1):23. doi:10.1186/s13073-022-
01026-w
5. Adachi T, El-Hattab AW, Jain R, et al. Enhancing
Equitable Access to Rare Disease Diagnosis and Treatment
around the World: A Review of Evidence, Policies, and
Challenges. Int J Environ Res Public Health. 2023;20(6):4732.
doi:10.3390/ijerph20064732
Appendix:
RD - Rare disease, RDs - Rare diseases, UN - United
Nations