Abstract
This research examines the human rights protections available to individuals affected by extreme rare diseases, defined as conditions affecting fewer than 1 in 500,000 people globally. Through a comprehensive analysis of international human rights frameworks, national legislation, and empirical evidence, this study identifies significant gaps in protection mechanisms for this vulnerable population. The research employs a mixed-methods approach, combining systematic literature review with comparative legal analysis and case study examination. Key findings reveal that while international human rights instruments theoretically protect individuals with rare diseases, practical implementation remains inadequate due to economic constraints, lack of awareness, and insufficient advocacy mechanisms. The study proposes a multi-tiered framework for enhancing human rights protections, emphasizing the need for specialized legislation, improved healthcare access, and strengthened international cooperation. These findings contribute to the growing body of literature on health equity and disability rights, providing evidence-based recommendations for policymakers, healthcare providers, and advocacy organizations working to protect the rights of individuals with extreme rare diseases.
Keywords: Rare diseases, human rights, healthcare access, disability rights, health equity, orphan diseases, international law, social justice
Introduction
Extreme rare diseases represent one of the most marginalized health conditions in contemporary society, affecting millions of individuals worldwide despite their individual rarity. Defined by the European Union as conditions affecting fewer than 5 in 10,000 people, and by the United States as conditions affecting fewer than 200,000 Americans, these diseases collectively impact an estimated 300-400 million people globally¹. Within this category, extreme rare diseases—those affecting fewer than 1 in 500,000 individuals—present unique challenges to human rights protection frameworks.
The intersection of rare disease advocacy and human rights discourse has gained momentum over the past two decades, driven by patient advocacy groups, international organizations, and progressive healthcare policies. However, individuals with extreme rare diseases face compounded vulnerabilities that traditional human rights frameworks struggle to address adequately. These challenges include diagnostic odysseys lasting years or decades, lack of treatment options, social isolation, economic hardship, and systemic discrimination within healthcare systems.
The significance of this research lies in its potential to inform policy development, legal reform, and advocacy strategies that can improve the lived experiences of individuals with extreme rare diseases. By examining existing human rights protections through both theoretical and practical lenses, this study aims to identify gaps and propose actionable solutions that align with international human rights standards while addressing the unique needs of this population.
This paper addresses three questions:
- How do existing international human rights instruments address the needs of individuals with extreme rare diseases?
- What gaps exist in current protection mechanisms?
- What policy and legal reforms are necessary to ensure adequate human rights protections for this population?
Research Methodology
This study employs a mixed-methods research design combining systematic literature review, comparative legal analysis, and qualitative case study examination. The methodological approach was selected to provide comprehensive coverage of both theoretical frameworks and practical implementation challenges in human rights protection for individuals with extreme rare diseases.
Systematic Literature Review
A systematic literature review was conducted using multiple databases including PubMed, LexisNexis, Westlaw, and Google Scholar. Search terms included combinations of “rare diseases,” “human rights,” “orphan diseases,” “healthcare access,” “disability rights,” and “health equity.” The review covered publications from 2000 to 2024, with particular emphasis on peer-reviewed articles, legal documents, and policy reports published after the adoption of the UN Convention on the Rights of Persons with Disabilities in 2006.
Inclusion criteria encompassed: 1English-language publications, 2focus on rare diseases and human rights intersections, 3empirical studies or legal analyses, and 4relevance to policy or advocacy. Exclusion criteria included: 1purely clinical study without rights-based analysis, 2conference abstracts without full text, and 3non-peer-reviewed opinion pieces without substantial evidence base.
Comparative Legal Analysis
The legal analysis component examined international human rights instruments, regional conventions, and national legislation across multiple jurisdictions. Key documents analysed include the Universal Declaration of Human Rights, International Covenant on Economic, Social and Cultural Rights, Convention on the Rights of Persons with Disabilities, and relevant regional instruments such as the European Convention on Human Rights. National legislation from the United States, European Union member states, Canada, Australia, and selected developing countries was reviewed to identify best practices and implementation gaps.
Case Study Analysis
Qualitative case studies were selected to illustrate practical challenges and successes in human rights protection implementation. Cases were chosen based on geographical diversity, disease type variation, and availability of documented outcomes. The analysis focused on identifying patterns in rights violations, successful advocacy strategies, and policy responses across different contexts.
Literature Review
Theoretical Foundations of Health as a Human Right
The conceptualization of health as a fundamental human right has evolved significantly since the adoption of the Universal Declaration of Human Rights in 1948. Article 25 established the foundation by recognizing everyone’s right to “a standard of living adequate for the health and well-being of himself and of his family, including food, clothing, housing and medical care”². This broad formulation was later refined in the International Covenant on Economic, Social and Cultural Rights (ICESCR), which recognizes “the right of everyone to the enjoyment of the highest attainable standard of physical and mental health”³.
The interpretation of these provisions has expanded through General Comment 14 of the UN Committee on Economic, Social and Cultural Rights, which emphasizes that the right to health encompasses not only healthcare services but also underlying determinants of health including access to safe water, adequate sanitation, safe food, adequate nutrition and housing, healthy working conditions, and access to health-related education and information⁴. This comprehensive understanding is particularly relevant for individuals with extreme rare diseases, whose health outcomes depend heavily on specialized medical care, social support systems, and environmental accommodations.
Disability Rights Framework and Rare Diseases
The Convention on the Rights of Persons with Disabilities (CRPD) represents a paradigm shift in disability rights, moving from a medical model focused on individual deficits to a social model emphasizing societal barriers and human rights⁵. Many individuals with extreme rare diseases experience disabilities as defined by the CRPD, which recognizes persons with disabilities as those who have “long-term physical, mental, intellectual or sensory impairments which in interaction with various barriers may hinder their full and effective participation in society on an equal basis with others”⁶.
The CRPD’s principles of non-discrimination, full and effective participation, respect for difference, equality of opportunity, and accessibility provide a robust framework for addressing the rights of individuals with rare diseases. Article 25 specifically addresses health rights, requiring states to provide persons with disabilities with the same range, quality and standard of free or affordable healthcare as provided to other persons, including health services needed specifically because of their disabilities⁷.
Economic and Social Rights Challenges
The implementation of economic and social rights for individuals with extreme rare diseases faces unique challenges related to resource allocation, priority setting, and the economics of healthcare delivery. The concept of progressive realization, which allows states to implement economic and social rights gradually based on available resources, creates particular difficulties for rare disease populations whose needs may not align with public health priorities focused on common conditions affecting large populations⁸.
Research by Molster et al. demonstrates that individuals with rare diseases face higher healthcare costs, reduced employment opportunities, and increased social isolation compared to the general population⁹. These economic vulnerabilities compound the challenges of accessing specialized care and support services, creating cycles of disadvantage that traditional welfare systems struggle to address.
Access to Healthcare and Treatment
Healthcare access represents a fundamental challenge for individuals with extreme rare diseases. The “diagnostic odyssey”—the lengthy process of obtaining an accurate diagnosis—is well-documented in the literature, with studies showing average delays of 5-7 years for rare disease diagnosis¹⁰. During this period, individuals often experience inadequate or inappropriate treatment, psychological distress, and financial hardship.
The development of orphan drug legislation in various jurisdictions represents one approach to addressing treatment access challenges. The United States Orphan Drug Act of 1983, followed by similar legislation in the European Union, Japan, and other countries, provides incentives for pharmaceutical companies to develop treatments for rare diseases¹¹. However, critics argue that these mechanisms primarily benefit patients with diseases affecting larger populations within the rare disease category, leaving those with extreme rare diseases underserved.
Social and Cultural Rights
The social and cultural dimensions of rare disease experience have received increasing attention in recent literature. Baumbusch et al. identify social isolation, stigma, and discrimination as common experiences among rare disease patients and families¹². These challenges are particularly acute for individuals with visible or behaviourally manifested conditions, who may face exclusion from educational, employment, and social opportunities.
The right to education, protected under Article 13 of the ICESCR and Article 24 of the CRPD, requires particular attention for children with extreme rare diseases. Research indicates that these children often experience educational disruptions due to medical appointments, hospitalizations, and inadequate school accommodations¹³. The development of individualized education plans and reasonable accommodations represents progress in some jurisdictions, but implementation remains inconsistent.
Method
Data Collection and Analysis Framework
The analytical framework for this study draws upon the tripartite typology of state obligations under international human rights law: the obligations to respect, protect, and fulfil human rights¹⁴. This framework provides a structured approach to evaluating state compliance with human rights obligations toward individuals with extreme rare diseases.
The obligation to respect requires states to refrain from interfering with the enjoyment of human rights. In the context of rare diseases, this includes avoiding discriminatory practices in healthcare provision, ensuring that medical decision-making respects patient autonomy, and preventing forced medical interventions.
The obligation to protect requires states to prevent third parties from violating human rights. This encompasses regulating healthcare markets to prevent exploitation, ensuring insurance coverage for rare disease treatments, and protecting individuals from discrimination by private actors.
The obligation to fulfil requires states to take positive measures to facilitate the enjoyment of human rights. This includes establishing healthcare systems capable of addressing rare disease needs, providing financial support for treatment and care, and creating legal frameworks that protect rare disease patients’ rights.
Evaluation Criteria
The assessment of human rights protections employs four primary criteria:
Availability: The existence of healthcare services, legal protections, and support systems relevant to individuals with extreme rare diseases. This includes specialized medical centers, diagnostic facilities, treatment options, and advocacy resources.
Accessibility: The practical ability of individuals to access available services and protections. This encompasses geographical accessibility, economic affordability, information accessibility, and non-discrimination in service provision.
Acceptability: The cultural appropriateness and ethical acceptability of services and protections. This includes respect for cultural values, religious beliefs, and individual preferences in treatment decisions.
Quality: The scientific and medical appropriateness of healthcare services, the effectiveness of legal protections, and the adequacy of support systems. This encompasses evidence-based treatment protocols, competent healthcare providers, and robust legal enforcement mechanisms.
Comparative Analysis Structure
The comparative analysis examines human rights protections across three categories of countries: developed nations with established rare disease policies, emerging economies with developing healthcare systems, and least developed countries with limited healthcare infrastructure. This categorization allows for identification of both universal challenges and context-specific solutions.
Findings and Analysis
International Framework Assessment
The analysis reveals that while international human rights instruments provide theoretical foundations for protecting individuals with extreme rare diseases, significant gaps exist in practical implementation mechanisms. The Universal Declaration of Human Rights and subsequent covenants establish broad principles of health rights and non-discrimination, but lack specific provisions addressing the unique challenges faced by rare disease populations.
The CRPD represents the most comprehensive framework for addressing rare disease rights, particularly for individuals whose conditions result in functional impairments. However, the convention’s disability-focused approach may not fully capture the experiences of individuals with rare diseases that do not result in traditional disability categories. Additionally, the CRPD’s emphasis on reasonable accommodation and accessibility modifications may be insufficient for addressing the complex medical needs of individuals with extreme rare diseases.
National Implementation Variations
Significant variations exist in national implementation of human rights protections for individuals with extreme rare diseases. Countries with established rare disease strategies, such as those in the European Union operating under the EU Regulation on Orphan Medicinal Products, demonstrate more comprehensive approaches to protection. However, even in these contexts, individuals with extreme rare diseases face challenges accessing specialized care and securing insurance coverage for experimental treatments.
In the United States, the combination of federal rare disease legislation and disability rights protections provides a relatively robust framework, but implementation varies significantly across states and healthcare systems. The Patient Protection and Affordable Care Act has improved access to healthcare coverage, but gaps remain in coverage for experimental treatments and long-term care services.
Developing countries face additional challenges in implementing human rights protections due to limited healthcare infrastructure, competing public health priorities, and resource constraints. However, some innovative approaches have emerged, including regional cooperation initiatives and international funding mechanisms for rare disease research and treatment access.
Identified Gaps in Protection
Several systematic gaps emerge from the analysis:
Diagnostic Access: Many healthcare systems lack the specialized expertise and diagnostic capabilities necessary for identifying extreme rare diseases. This results in prolonged diagnostic delays, inappropriate treatment, and psychological distress for patients and families.
Treatment Availability: The limited market incentives for developing treatments for extreme rare diseases result in significant gaps in available therapies. Even where treatments exist, access may be limited by regulatory barriers, insurance coverage limitations, and distribution challenges.
Social Support Systems: Traditional social service systems are often inadequately designed to address the complex needs of individuals with extreme rare diseases, including the need for specialized education, employment accommodations, and family support services.
Legal Recognition: Many legal systems lack specific recognition of the unique rights and needs of individuals with rare diseases, resulting in inconsistent application of existing disability rights and healthcare access provisions.
Suggestions and Recommendations
Legal and Policy Reforms
Specialized Legislation: Countries should consider developing comprehensive rare disease legislation that specifically addresses the rights and needs of individuals with rare diseases. Such legislation should include provisions for healthcare access, research support, educational accommodations, and employment protections.
Insurance Reform: Healthcare financing systems should be reformed to ensure adequate coverage for rare disease treatments, including experimental therapies and long-term care services. This may require special funding mechanisms or risk-sharing arrangements to address the high costs associated with rare disease care.
International Cooperation: Strengthen international cooperation mechanisms for rare disease research, treatment development, and information sharing. This includes supporting initiatives like the International Rare Disease Research Consortium and developing bilateral and multilateral agreements for treatment access.
Healthcare System Improvements
Specialized Centres: Establish or designate specialized rare disease centres that can provide comprehensive diagnostic, treatment, and support services. These centres should be networked nationally and internationally to share expertise and coordinate care.
Healthcare Provider Training: Implement comprehensive training programs for healthcare providers on rare disease recognition, diagnosis, and management. This should include both initial professional education and continuing education requirements.
Patient Navigation Services: Develop patient navigation programs that help individuals with rare diseases access appropriate care, understand their rights, and connect with support resources.
Advocacy and Empowerment
Patient Organization Support: Provide funding and technical assistance to patient advocacy organizations, recognizing their critical role in rights protection, awareness raising, and support provision.
Rights Education: Develop educational programs to inform individuals with rare diseases and their families about their rights and available protections. This should include accessible materials in multiple languages and formats.
Participatory Decision-Making: Ensure meaningful participation of individuals with rare diseases and their advocates in policy development, research priority setting, and healthcare system planning.
Conclusion
This research demonstrates that while international human rights frameworks provide important foundations for protecting individuals with extreme rare diseases, significant gaps remain in both theoretical coverage and practical implementation. The unique challenges faced by this population—including diagnostic delays, treatment scarcity, and social isolation—require specialized approaches that go beyond traditional disability rights and healthcare access models.
The analysis reveals that effective human rights protection for individuals with extreme rare diseases requires multi-level interventions spanning legal reform, healthcare system development, and social support enhancement. Countries with the most comprehensive protections combine specialized rare disease legislation with robust disability rights frameworks and universal healthcare systems that can accommodate high-cost, low-volume conditions.
Key findings indicate that the most significant barriers to rights realization are not primarily legal or theoretical, but rather practical challenges related to resource allocation, system capacity, and implementation coordination. This suggests that future advocacy and policy efforts should focus on developing practical mechanisms for rights implementation rather than solely pursuing additional legal protections.
The research contributes to the growing understanding of rare diseases as a human rights issue while highlighting the need for continued research on effective implementation strategies. The proposed framework for assessing human rights protections using availability, accessibility, acceptability, and quality criteria provides a tool for ongoing monitoring and evaluation of progress in this area.
Future research should examine the effectiveness of different policy approaches through longitudinal studies, investigate the role of digital technologies in improving access to care and support, and explore innovative financing mechanisms that can ensure sustainable access to rare disease treatments while maintaining broader healthcare system equity.
The protection of human rights for individuals with extreme rare diseases represents both a moral imperative and a practical challenge for contemporary societies. Meeting this challenge requires sustained commitment from governments, healthcare systems, advocacy organizations, and the international community to ensure that the most vulnerable members of our societies are not left behind in the pursuit of health equity and social justice.
Vaishali Jain
FIMT(GGSIPU)
Footnotes
¹ European Organisation for Rare Diseases (EURORDIS), “What is a Rare Disease?” accessed January 2024, https://www.eurordis.org/what-is-a-rare-disease.
² Universal Declaration of Human Rights, G.A. Res. 217A (III), UN GAOR, 3rd Sess., 1st plan. mtg., UN Doc. A/810 (Dec. 12, 1948), Article 25.
³ International Covenant on Economic, Social and Cultural Rights, G.A. Res. 2200A (XXI), 21 UN GAOR Supp. (No. 16) at 49, UN Doc. A/6316 (1966), Article 12.
⁴ UN Committee on Economic, Social and Cultural Rights, General Comment No. 14: The Right to the Highest Attainable Standard of Health, UN Doc. E/C.12/2000/4 (2000).
⁵ Convention on the Rights of Persons with Disabilities, G.A. Res. 61/106, UN Doc. A/RES/61/106 (Dec. 13, 2006).
⁶ Ibid., Article 1.
⁷ Ibid., Article 25.
⁸ Sepúlveda, M., “The Nature of the Obligations under the International Covenant on Economic, Social and Cultural Rights” (Inters entia, 2003).
⁹ Molster, C., et al., “Survey of healthcare experiences of Australian adults living with rare diseases,” Orphanet Journal of Rare Diseases 7, no. 1 (2012): 12.
¹⁰ Rare Disease UK, “The Rare Reality – An Insight into the Patient and Family Experience of Rare Disease” (2016).
¹¹ Orphan Drug Act, Pub. L. No. 97-414, 96 Stat. 2049 (1983).
¹² Baumbusch, J.L., et al., “Pursuing common agendas: a collaborative model for knowledge generation between communities and universities,” Research in Nursing & Health 31, no. 2 (2008): 130-142.
¹³ Bogart, K.R., “Sociocultural perspectives on rare and genetic conditions: a systematic review,” Current Genetic Medicine Reports 8, no. 1 (2020): 12-23.
¹⁴ Maastricht Guidelines on Violations of Economic, Social and Cultural Rights, reprinted in Human Rights Quarterly 20, no. 3 (1998): 691-705.