Childhood rare diseases and the UN convention on the rights of the child

Abstract

This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform laypeople on the intersection between the UNCRC and rare and undiagnosed diseases. The Project was initiated in Western Australia for a national audience, with a view that it might also provide a framework that is translatable to other jurisdictions internationally. This letter discusses some of the key themes raised by the Project and the potential for further work.

Dear Editor,

In January 2019, a small group came together in Perth, Western Australia with the purpose of better communicating the rare disease experience in childhood (Project Group). Having dealt with rare disease either as patient, medical professional, carer or advocate, members of the group had practical—although not necessarily academic—knowledge of the particular challenges. To be clear, while the group worked from its experience, the difficulties of rare disease have been catalogued elsewhere. Rare disease provides unique challenges regarding awareness in the general population, visibility in systems, difficulties of early and accurate diagnosis and development, and access to therapies [1]. With all this in mind, the group challenged itself to consider whether the United Nations Convention on the Rights of the Child (UNCRC) could be translated into the childhood rare disease experience and used as a framework for communicating this to a broader population through social media.

Why the UNCRC?

The promise of equal dignity for all human beings has been the aim of the United Nations since its inception, almost seventy-five years ago [2]. Whilst not all countries have endorsed the UNCRC, in 1989, this document became the first legally binding instrument to cover the human rights of children worldwide [3]. However, despite the importance of the UNCRC, it arguably remains a relatively unknown document within the general population. While the UNCRC is relevant to all children, it has an especially important role in the lives of vulnerable child populations such as those living with a rare disease. However, the rarity of any singular rare disease does not reflect the substantial number of children affected by the approximately 8,000 rare diseases [4]. Although seemingly counterintuitive, rare diseases are cumulatively common, with 3.5–5.9% of the population affected [4], and 70% of them exclusively start in childhood [4, 5]. Put another way, these conditions are simultaneously rare and everywhere.

Moreover, not only do the majority of rare diseases begin in childhood, they are often lifelong, frequently associated with increased suffering and mortality, and commonly without cure [6,7,8,9]. Rare diseases are complex, chronic, often require multidisciplinary care and pose many challenges to the individuals, families, clinicians, communities, and governments involved [6,7,8,9]. The rarity of the individual diseases and failure in some jurisdictions to prioritize rare diseases as a global public health priority pose special challenges. These include acquiring scientific data and implementing and assessing clinical initiatives, resulting in gaps in diagnosis, treatment, and management guidelines [6,7,8,9]. Low and middle-income countries have these and additional challenges, resulting in healthcare systems where children with rare disease are likely to receive poorer outcomes. As rare diseases have a significant impact on global child health, recognizing the rights of these children and their families is a vital task.

Designing the project

The UNCRC is composed of 54 articles, each declaring separate rights to be afforded to every child [3]. However, while the Project aimed to improve awareness of both rare and undiagnosed diseases by relating each of these articles to the experiences of children living with rare disease, it soon became clear that aligning the rare disease experience with each of the 54 articles would be difficult for 3 reasons:

• the 54 articles do not always sit squarely with the rare disease experience;

• that there must be no suggestion that children living with rare disease are at greater advantage (or disadvantage) than other children within the umbrella of the UNHRC; and

• that the childhood rare disease world is made up not only of affected children, but family and friends, the medical community, advocacy groups and government bodies with their own perspectives and differing levels of power. These stakeholders would also need to be considered to make the posts more representative.

However, once the key nature of the Project was distilled by the group: being the use of the UNHRC as a framework for considering the challenges faced by children living with rare disease then it became less important to fit squarely within each article and more important to communicate broader issues that could help with the challenges faced by these children. This flexible approach helped to convey a broader message to the intended audience being children and families living with rare and undiagnosed diseases, the medical community, and the general public.

Project timeline and distribution

The Project was completed over 15 months within a small team comprising a medical student (LM), advocacy organization leader (AS), lawyer (MT), and clinical geneticist (GB), and consisted of 35 posts published on Facebook, culminating in the final post by Rare Disease Day 2020. Some UNCRC articles were grouped to correspond to a single rare diseases theme, so the number of posts was less than the number of UNCRC articles. Each post was bite-sized, in plain English, and released every 1–2 weeks. The posts were produced for broad dissemination and with the critical input, secretariat and support from the Genetic and Rare Disease Network (GaRDN), the local peak rare disease advocacy group in Western Australia. Other key disseminating partners included the Academy of Child and Adolescent Health (a not for profit organization dedicated to promoting the health and well-being of every newborn, child, and young person in order that they may reach their maximum potential), Rare Voices Australia (Australia’s peak organization for Rare Diseases), and the Commissioner for Children and Young People of Western Australia (a government agency committed to children and young people of Western Australia being able to live in a state where they are heard, valued, healthy, and safe).

A selection of project themes

For the purpose of this letter, the Project Group would like to highlight four themes (and associated example posts) which aligned with particular aspects of the UNCRC: advocacy and support, healthcare, global effort, and opinion and privacy. While a full list of each post aligned to its relevant UNCRC article can be found in Table 1, a comparison of the Facebook indicators for the UNCRC posts with others on the GaRDN Facebook page during the same time indicated that posts regarding advocacy and support for children and their families living with rare disease were the most likely to raise comment and interaction from viewers.

Table 1 List of UNCRC series posts and corresponding UNCRC articles

Right to advocacy and support

Multiple articles within the UNCRC point to the right to advocacy and support for both the parents and the child. For example, Article 3 states that all organizations concerned with children should work towards what is best for the child and Article 26 refers to governments providing monetary support to families in need [3]. Similarly, children with rare disease may need additional advocacy and support in areas such as mental health, physical health, and financial health. The following post addressed financial impact:

Living with rare disease can contribute to significant increased stress on families, and financial burden can further this stress. Financial hardship in the families of children with rare disease may worsen an already difficult situation. The additional costs for these families can include specialized equipment, loss of income for caregivers, and specialized medical or allied health services. Children with undiagnosed diseases may also have additional costs due to extra investigations and appointments. Costs may vary depending on the condition and the experience of the family. Costs may be hidden and present themselves slowly over childhood. Costs may also differ depending on whether the individual living with rare disease is using public or private services. Although some financial aid may be given through programs such as the NDIS*, families may still be in need of extra financial assistance.

*National Disability Insurance Scheme

Right to healthcare

Healthcare can be non-existent or inaccessible for children with rare disease, whether for financial, geographic, cultural or other reasons. Healthcare challenges can be further complicated by the absence of a diagnosis. Accordingly, the international recommendations to address the specific needs of undiagnosed people have been developed [10]. The UNCRC supports this right to healthcare in Article 6, determining that governments should ensure every child has a full life to survive and develop healthily where possible, and in Article 23, stating that children who have any kind of disability should receive special care and support so that they can live a full and independent life [3].

A key barrier to rare disease healthcare is funding. This applies not only to government funded diagnostics and treatment, but also to funding for research to create these diagnoses and treatments [11]. We cited a topical piece, The Battlefield of Rare Diseases [12], to address this concern and demonstrate how advances in rare disease may contribute to better healthcare for all disorders:

The battlefield of rare diseases is a short paper that looks at how rare disease research can improve things for the whole population. The paper reviews the work of Goldstein and Brown who did research on familial hypercholesterolemia, a rare disease that can increase the risk of heart disease. This research later resulted in statins being developed that are now used regularly to help prevent heart and artery disease and the researchers won a Nobel prize for their work. This is just one example of how research in rare disease can lead to greater scientific understanding and improve life for the whole population. Funding for rare disease research can have outcomes that reach far beyond the rare disease community.

Right to global effort

The Project Group believes that one of the most important issues is the need for a global effort in the fight against rare diseases. Strength in numbers, and solidarity, are often required in medicine and human rights, and to achieve scale and unity requires global cooperation. Articles 24 and 28 both address this concept, recognizing that better-resourced countries should support the needs of less-resourced countries to achieve the overall goals of upholding children’s rights [3]. Similarly, international collaboration is required in response to rare diseases, and for optimal impact, a collaboration involving epidemiological and genetic data, and implementation and assessment of clinical initiatives [11, 13].

Children across the world are impacted by rare diseases. Some countries are better equipped to help those children than other countries. All children have the right to good quality healthcare, regardless of what state or country they are in. The United Nations also have an aim for healthy lives and well-being at all ages across the globe. When thinking about current and future goals for rare diseases it is important to think of needs larger than our own country. International teamwork is required. When one country makes a breakthrough in rare diseases, the outcomes should be shared globally. Some organizations provide global resources, which help countries all over the world with diagnosis and research. Countries such as Australia can assist by responsibly sharing data, research findings, expertise, and financial assistance. Contributing to international rare diseases policy is also important.

Right to an opinion and right to privacy

The right to an opinion, together with a right to privacy, are particularly relevant in rare disease in the instances of opting out of genetic testing or opting into research trials, and the data resulting from these initiatives [14, 15]. Article 12 addresses children’s right to voice what they think should happen when adults are making decisions that affect them, and Article 13 asserts that children have the right to obtain and share appropriate information [3]. The following post demonstrates the added complexity of the right to privacy, mentioned in Article 16 [3], in the context of the specialized data needed with rare diseases.

Children have the right to privacy, and in the world of rare disease, privacy can relate to children’s health data. Data sharing in rare disease is very important to help understand, diagnose, and treat individual rare disorders, and to help improve quality of life.

Data sharing is central to medical care and research and can mean a greater chance of diagnosis for current and future children living with rare disease. There is potential, when the number of people with any one disease is low, that there may be a chance of loss of privacy when sharing data. Data sharing that maintains privacy and informed consent will help achieve the possible benefits of data sharing. Australian genetic, undiagnosed and rare disease groups support the need for data standards and systems as outlined in the Call for a National Rare Disease Framework.

Conclusion

The UN High Commissioner for Human Rights has identified persons living with rare diseases as a particular area of focus, being a high needs population that are usually excluded [16]. Against this, the Project Group was able to successfully apply the UNCRC as a framework to consider the rights of children living with a rare disease and communicate this to the larger population. In this way, the UNCRC provided a scaffold to advance the message that rare diseases of childhood impact not only health, but also, fundamental human rights. Although this Project focused on the Australian context, it is believed that this approach is globally generalizable, with tailoring to individual countries or regions. Whether this methodology can underpin policy design or specifically articulated rights for rare disease patients is outside the scope of this letter but the alignment of the rare disease experience with human rights does commend itself to further research.