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The Colombian Federation of Rare Diseases (FECOER) is a non-profit organization (NPO) launched in
2011 to promote the inclusion, integration, and care of people living with rare diseases (PLWRD), including
supporting and monitoring the implementation of the NBS program. FECOER includes 48 organizations/
support groups for PLWRD, working together to develop and implement advocacy strategies in public
policy, education, and awareness. The primary FECOER approach for NBS is via the National Board for
Rare-Orphan Diseases, which works to design and disseminate actions for public policy to improve the lives
of people living with rare diseases through stakeholder participation. The National Board was established
[9]
through Resolution 1,871 of 2021 , which includes 15 health sector representatives, the Ministry of Health,
health insurers/funders, service providers, scientific societies, and POs. FECOER also collaborates with
scientific societies and academia to educate and sensitize HCP and the wider community about the
challenges faced by patients/families accessing NBS.

Cyprus alliance for rare disorders
In Cyprus, the national bloodspot NBS program is limited to screening for PKU and CH, while debate
continues around potential expansion to include eight more manageable and epidemiologically relevant
metabolic disorders via a pilot. NBS advocacy efforts have been led by the Association for Patients with
Inherited Metabolic Disorders and Friends “Aspida Zois”, Cyprus Muscular Dystrophy Association, and
Cyprus Association for Primary Immunodeficiencies and Friends, both individually and collectively under
the umbrella of the Cyprus Alliance for Rare Disorders . In 2022, the POs organized a successful petition
[10]
that led the Council of Ministers to reconsider and approve the expansion of NBS to include eight
additional inherited metabolic diseases . In addition, the Cyprus Alliance for Rare Diseases regularly issues
[11]
position paper and proposals aimed at policy makers to improve early diagnosis and care services. Such
advocacy efforts involving POs remain largely unseen and unreported in the scientific literature.

Cyprus has a long history of prevention of rare inherited conditions through prenatal screening for
thalassemia. With 12% of the population estimated as being asymptomatic carriers and 650+ thalassemia
patients, couples are required by the Church to be screened and counselled premaritally for
thalassemia [12,13] . Newborns whose parents have been identified as thalassemia carriers are considered to be
at increased risk and their NBS includes thalassemia screening. This program has been in place since 1980,
and Church involvement has contributed to the successful implementation. It is an example of successful
collaboration between patients, families, HCP, and decision-makers who agree on the significant burden of
thalassemia, describing it as their “national disease”. In addition, prenatal screening is available for
Duchenne and Becker Muscular Dystrophy, Spinal Muscular Dystrophy, CF, Huntington’s disease, and
other single-gene disorders when there is a family history. For these families, the State covers the cost of a
defined number of cycles of in-vitro fertilization at the specific Center of Reference.

Participation in relevant European groups and international conferences, such as EUROPLAN National
Conferences and International Society for Neonatal Screening, helps to expand knowledge on NBS and the
potential benefits when implemented [14,15] . Local POs often seek collaboration with specialists and national
alliances to gather scientific facts and support their advocacy efforts. Publicizing issues through media
channels has been a key tactic in achieving awareness and leveraging State involvement for these conditions.

Rare diseases South Africa
NBS has been offered sporadically in South Africa since the early 1990s, mainly for CH. However,
competing health priorities, most notably HIV/AIDS and Tuberculosis (TB), have resulted in the neglect of
community genetic services, including the diagnosis and treatment of congenital disorders and rare
diseases. The 2021 National Clinical Guidelines for Genetic Services specify clinical examination of a
newborn, auditory screening, pulse oximetry for CHD, and biochemical screening for inborn errors of