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Malherbe et al. Rare Dis Orphan Drugs J 2024;3:24 Rare Disease and
DOI: 10.20517/rdodj.2024.11
Orphan Drugs Journal

Perspective Open Access

Patient organizations: advocating for timely
newborn screening & improved quality of life

7,8
1,2
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Helen L. Malherbe , Ritu Jain 3,4,5 , Victoria Antoniadou , Marie-Christine Ouillade , Diego Fernando
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10
12
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Gil Cardozo , Gulcin Gumus , Nokuthula Sikhethiwe Kitikiti , Lucy McKay , Chiuhui Mary Wang 13
1
Rare Diseases South Africa NPC, Bryanston, Sandton 2021, South Africa.
2
Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa.
3
Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 639818, Singapore.
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Language and Communication Centre, Nanyang Technological University, Singapore 639818, Singapore.
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Asia Pacific Alliance of Rare Disease Organisations, Singapore 188976, Singapore.
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Cyprus Alliance for Rare Disorders, Nicosia 2012, Cyprus.
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AFM Téléthon, Evry 91002, France.
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SMA Europe, Freiburg 79112, Germany.
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Federación Colombiana de Enfermedades Raras - FECOER, Bogotá Calle 34 No 17-67, Colombia.
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EURORDIS - Rare Diseases Europe, Barcelona 08025, Spain.
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Centre of Regulatory Excellence, Duke-NUS Medical School Singapore, Singapore 169857, Singapore.
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Medics4RareDiseases, High Wycombe HP10 9RS, UK.
13
Rare Diseases International, Paris 75014, France.
Correspondence to: Dr. Chiuhui Mary Wang, Rare Diseases International, 96 Rue Didot, Paris 75014, France. E-mail:
mary.wang@rarediseasesint.org
How to cite this article: Malherbe HL, Jain R, Antoniadou V, Ouillade MC, Gil Cardozo DF, Gumus G, Kitikiti NS, McKay L, Wang
CM. Patient organizations: advocating for timely newborn screening & improved quality of life. Rare Dis Orphan Drugs J
2024;3:24. https://dx.doi.org/10.20517/rdodj.2024.11
Received: 12 Mar 2024 First Decision: 30 May 2024 Revised: 3 Jul 2024 Accepted: 5 Aug 2024 Published: 15 Aug 2024
Academic Editors: Tao Duan, Jacques S. Beckmann Copy Editor: Fangling Lan Production Editor: Fangling Lan
Abstract
Timely diagnosis is a crucial first step for individuals with rare diseases, significantly affecting their access to
treatment, care, and overall well-being. Patient organizations have actively engaged in advocating for Newborn
Screening (NBS) to raise awareness about rare diseases. This article examines the efforts of six patient
organizations worldwide, each functioning as a national, regional or disease-specific alliance with distinct
characteristics. These organizations strongly support NBS due to its proven potential to enable early diagnosis and
facilitate timely referral to appropriate treatment and care. They employ several approaches to advocate for the
expansion of screening panels or implementation of NBS programs, including education, evidence gathering, and

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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