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Page 6 of 8 Malherbe et al. Rare Dis Orphan Drugs J 2024;3:24 https://dx.doi.org/10.20517/rdodj.2024.11

ADVOCACY FOR EARLY DIAGNOSIS AND DISEASE MANAGEMENT
Diagnosis is a crucial step for PLWRD, impacting their treatment access, care, and overall well-being.
Globally, POs are engaging in NBS advocacy and discussion at various levels and examples in this article
offer indications of their contributions. Despite their different locations, contexts, and disease focuses, the
points of commonality between these POs are their advocacy efforts, facilitation of collaboration,
supporting awareness and education, and policy influence. These efforts are rarely documented in the
scientific media but often help leverage the implementation and expansion of NBS.

Each organization emphasized the importance of raising awareness and educating both HCPs and the wider
community and is actively involved in advocacy efforts about the benefits of NBS. The objective of POs to
raise awareness, communicate the lived experiences/expertise of PLWRD, families and caregivers who have
been impacted by conditions that could have been prevented or mitigated adds value and purpose to the
development of NBS programs [34,35] . In addition, they can offer perspectives on screening conditions for
which there are no treatments, conditions which are manageable with dietary changes, and conditions for
[36]
which there is effective treatment if administered before the onset of symptoms . The input of patient
representatives is critical for NBS discussion and decision making.

POs play a central role in facilitating collaborations and political commitment. They can influence policy at
the national or regional level, participate in policy discussions, and advocate for resource allocation toward
rare diseases and NBS [17,23,26,27,30,35] . Collaboration is a key strategy, whether with other PO, healthcare
professionals, societies, academia, or governmental bodies. To this end, they use varied channels such as
media, events, publications, and educational initiatives to disseminate information and mobilize support for
their advocacy efforts. They may direct research agendas and strategies, form partnerships, collect learnings
from other diseases, and engage with scientific literature to gather or compare data [37-39] . They can provide
resources for developing therapeutic protocols, creating effective health policies, and providing continuous
medical education. Their impact is determined by their knowledge, ability to present evidence, and
networking capacity with stakeholders [35,40] . Many developing countries lack NBS programs, and POs are
recognized to be essential to ensure equitable access to NBS [5,7,35] .

CONCLUSION
While NBS programs are expanding to include more conditions, they only include less than 1% of known
rare diseases. Ethical dilemmas and uncertainty surrounding the consequences of a rare disease diagnosis
may hinder parental acceptance of NBS, particularly when a child appears healthy. Parents may fear societal
stigma, discrimination, and socio-economic burdens. Impacted families understand the unavailability,
inaccessibility, or unaffordability of necessary services and treatments. Raising public awareness helps
overcome these barriers by fostering an understanding of the importance and potential benefits of NBS
programs.

POs play a crucial role in the development and implementation of NBS policy as they work to enhance
messages, promote collaboration, and facilitate consensus among diverse stakeholders. NBS offers
invaluable benefits that will shape the future of healthcare and a more equitable society. A well-informed
society is pivotal in driving forward the acceptance and effectiveness of NBS programs, ensuring every child
has the opportunity for a healthier start in life.