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

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 fostering multidisciplinary collaboration. There are opportunities to engage the public and emphasize the value of NBS as a public health service that benefits everyone.