Ensuring children with a rare disease are no longer left behind

Flaminia Macchia

Executive Director, Rare Diseases International (RDI)

Dolores Cvitičanin

Public Affairs Manager, Rare Diseases International (RDI)

There are over 300 million people living with a rare disease worldwide. Many rare diseases are present at birth, and an estimated 70% of rare genetic conditions start in childhood, making children a significant proportion of the global community of people living with a rare disease.

Rare diseases are often chronic, progressive, life-threatening, and highly debilitating. Their impact is felt throughout a lifetime and in every aspect of life by both children with a rare disease themselves and their families. 

Barriers children face 

The adoption of a UN General Assembly Resolution on ‘Addressing the Challenges of Persons Living with a Rare Disease and their Families’ on 16 December 2021 improved the visibility and recognition of the specific challenges faced by children and families impacted by rare diseases. The United Nations and its Member States recognised that children living with a rare disease encounter barriers to their education and multiple forms of discrimination, stigma and exclusion.  

When entering the school system, children with a rare disease often deal with a lack of awareness of rare diseases.

The right to health for all 

The UN Convention on the Rights of the Child affirms that access to health is a fundamental right — not a privilege. No child should be deprived of the highest attainable standard of physical and mental health, regardless of where they live. 

However, due to a lack of awareness, knowledge and expertise on rare diseases, children continue to struggle in getting an accurate and timely diagnosis and in accessing health and social services. In addition, families are at greater risk of impoverishment due to significant out-of-pocket expenses, disruption of work and reduction in income.  

Rare Disease International (RDI) is working with civil society groups across the globe to advocate for the World Health Organisation (WHO) to adopt a resolution on Universal Health Coverage (UHC) for all people living with rare diseases. 

Access to education and equal opportunities 

The global rare disease community encourages policymakers to tackle rare diseases, not solely as a health priority but also as a social justice issue that affects children’s access to education — which in turn leads to life-long negative consequences. 

When entering the school system, children with a rare disease often deal with a lack of awareness of rare diseases. They navigate schooling facilities and programmes that are not adapted to welcome learners with uncommon health conditions.  

As a global alliance, RDI increasingly engages UN agencies, including the United Nations Educational, Scientific and Cultural Organization (UNESCO) and the Office of the High Commissioner for Human Rights (OHCHR) to address the social challenges and barriers linked to going through life with a rare disease.