Angela P. Chaves R, JD
Migdalia Denis, MA 
The Rare Diseases: Definition and Characteristics.
The emerging concept of Rare Disease (RD) is used to define diseases with a low prevalence and a highly severe and disabling chronic course. Such diseases have certain characteristics besides the small number of affected people: patients frequently are diagnosed with a RD in early childhood, RDs affect multiple organ systems, produce disability, reduce both life expectancy and quality of life as well as harming physical and mental capacities. People with RDs, generally, require support to develop basic and advanced activities of daily living, mainly in their domestic life (44.06%), displacements (42.10%), or mobility (39.58%). Only one in ten of affected people do not require any type of support.1
Rare Diseases commonly have a disproportional impact, which goes beyond the patient affected by them. Many of such diseases are genetic, what means that more than one member of a family can be affected. Rare Diseases represent a considerable burden for caregivers and their severe course implies that patients, regularly require special care, usually given by a family member, reducing the caregiver’s work capacity. A study has determined that the time dedicated by caregivers ranges between 1 and 44 years, with an average of 15.76 years.2
These deficiencies affect the Health-Related Quality of Life (HRQoL) and can also affect the capacity of an individual to benefit from education and secure employment. In a survey of 2,500 patients with chronic diseases, those with RD had a greater loss of social and economic opportunities and access to medical attention.3
The lack of specialized support and information about these diseases increases the burden for the patients and their families. In a wider level, RD require substantial resources from healthcare systems and social protection.
The problem of RD also presents an imprecise measurement, with few definitions in agreement about its actual prevalence. Many efforts and resources are invested in the analysis of biological mechanisms of RD. However, there is less investment addressing the conceptual field of this phenomenon.4
The role of epidemiology in RD is of vital importance as a reference point to formulate public policies and investigate the etiology of such diseases despite the community suffering from a lack of data with respect to prevalence and incidence. There are also insufficient studies about the disease load and quality of life in the globally affected population.
There is no global consensus for the definition of RD, with each country sticking to the enunciation established through their own regulations or national public policies (except for the European Union, which has established a single prevalence for all of its member states). Every time there are no data worldwide accepted or issued by global authorities, and the application of epidemiology to RD demonstrates that more development is necessary, then the alternative is to adopt information obtained from isolated studies as a baseline. Between the relevant epidemiological and normally accepted data, it is possible to find the following ones:
- RD are debilitating pathologies over time and are potentially fatal “50% of affected RD have a life prognosis of risk. 65% of RD cases are severe and highly incapacitating. The majority of such diseases are of genetic character (80%), although not all of them. Two out of every three cases of RD appear before the age of two years”.5
- According to the more potent information portals for the reporting of recognized RD by authorities [Orphanet and the US National Institute of Health (NIH), in United States], more than 5.000 clinical conditions of low prevalence are described. Orphanet uses the European definition of a “rare disease”, as defined by the European Union Regulation on Orphan Medicinal Products (1999), that being a disease that affects no more than 1 person per 2000 in the European population
- According to the European Organization for Rare Diseases (EURORDIS) (2005), RDs are expressed in 3% or 4% of all births and it is estimated that five of these diseases are identified globally per week.7
- The majority of cases of disease appear in the pediatric population, a direct consequence of the high frequency of diseases of genetic origin and the presence of congenital anomalies. This way, RDs are responsible for about 20% of childhood mortality and 10% of pediatric hospitalizations.8 However, it is ignored if adults contribute to the higher global prevalence of RD, due to high mortality of some of childhood diseases.
- According to the National Plan of Health of RD in Portugal, these pathologies are responsible for 35% of deaths in children younger than one year, and for one out of every ten deaths between the first and fifteenth years of life.9
It is necessary to describe some relevant and common factors to these diseases, as all of them are related to low prevalence, high geographic dispersion of patients, and the high frequency of genetic origin in these kind of afflictions:
- Healthcare delivery: There are a number of difficulties with the diagnosis and treatment of RDs. They require complex, coordinated, interdisciplinary, and interinstitutional attention through reference centers and networks with complex integration between primary attention and that given by high-level specialists,. There is also a a demanding focus on the maintenance and improvement of quality of life, palliative care, and homecare. The fragmentation of healthcare systems and geographic dispersion of patients becomes difficult due to learning curves related to disease groups. As a manifestation of inequalities in the attention due to presence of geographic or economic barriers, the records of RD patients are lacking. Consequently, barriers to access to health and social protection are generated, which result in long legal proceedings for those affected and in judicialisation to obtain access.
- Investigation: There are difficult conditions for the development of clinical trials producing evidence with characteristics different from those of common diseases as there is little known about the natural history, and it is difficult to identify patients. There are incentives to investigation, but with high risks, this mitigates the development of new medications.
- Economy: There is a difficulty to create efficient solutions among the traditional models of supply and demand, insurance, funding, economic and pharmacoeconomic evaluation, high price of medications, difficulties with innovative models, and poor evaluation of social gains or losses experimented by the countries, with respect to behavior of the population suffering from these diseases. Considering the issue of access to medications, the regulatory agencies hinder the approval of high quality medications; there are undefined, inexistent, or complicated purchase processes, which, on many occasions, progresses with little transparency. There are countries in which the distribution chain of medications for RD is too long and complex, leading to patients in the rural environment having irregular access to such medication. Medications are also very expensive due to large number of intermediates in the supply chain.
- Social Challenge: The presence of manifested vulnerability and violation of the patients and their families’ rights leads to social loss, presence of poverty traps, inequality in the access to healthcare and social protection, degradation of family structure, loss of educative and labor integration. Poor identification of the issues in terms of public policies by the decision makers, and absence of a differential focus for the problems resolution.
- Education and Awareness: There is a poor conscience about the presence of RD and conditions of the communities suffering these diseases and absence of education in the health sciences faculties.
The lack records becomes impossible to divulge information about these sufferings, to know the pathology, and, through innovation, how to handle the phenomenon with treatments adequate to the patients.
In all of these domains –due to the characteristics of minority populations and the number of vulnerabilities – the measures taken with respect to relevant factors require two fundamental principles: differential focus and integral recognition from the population. Within the framework of these two principles, it is vital that the presence of normative coherence, the interinstitutional coordination, the interdisciplinary work, and the abandonment of paradigms are established in systems designed for acute diseases, more prevalent populations and more frequent events. In the same way, it is required that a larger implication of the actors, with the compromised participation of patients, caregivers, and patient’s organizations in the implementation of solutions.
The Struggle Between the Utilitarian and Communal Approaches: RD as a challenge to the application of the principle of equity, in the framework of distributive justice
When healthcare and social conditions require improvement in a framework of economic and budgetary restrictions, RDs propose a challenge in which the distributive justice performs an essential role. The small size of this population and its number of vulnerabilities expose serious challenges to health systems that were designed – as previously said – for more frequent problems and more prevalent populations. The challenges exposed by RDs bring into question the established paradigms and claim flexibilities from the political, economic, structural, and cultural point of view for its approach.
The question is: Do RDs and the population suffering from them deserve special treatment? If this is the case:
How should the distribution of charges be done? Should a state invest large amount of attention to a small population of patients? Who should be be treated first? Is it convenient to invest in the high cost of a therapy only to treat a small proportion of patients, taking into account that the health results of another larger population could be maximized, using these same resources? How does one provide coverage and insurance to a population with diseases of genetic origin and high complexity? How much should be invested for the development of structures and human talent for the integral attention? How does one fund treatments with growing technological innovation while considering the uncertainty that such diseases imply?
As with all struggles for health that take place on a setting of distributive justice, judgments of scientific and social value, opposing visions about the priority between health problems and the right to health, the individual right vs. the collective one – among other reasons – are faced. This situation exposes the necessity to clearly define the challenges of RDs, while proposing progressive patterns to solve them. This is the complaint of the civil society and, mainly, of patient organizations.
The general approach to remedy this problem requires the recognition of the unusual and paradoxical behavior of RD and the community who suffers these pathologies, inserting a differential focus to resolve the established challenges in the different domains in which decisions are implemented. This, in addition, should be done with the active participation of all actors and beginning by the resolution of a fundamental problem: the absence of “patterns” in the public policy.
Current Situation of the Associative Movement of RD Patients in Latin America
Latin America is facing the same series of challenges mentioned previously, with respect to RD. Both, the lack of information and scarce discussion with rhe general population and decision makers about symptoms, complications, and possible cures for RD, and the deficient legal and regulatory marks, generate a lack of coverage in the Latin American health systems. This lack of coverage, in turn, exerts an enormous impact, producing serious deficiencies in the population access to adequate treatments and protection, violating so the patients’ human rights.
Our region faces also the necessity to improve the exchange of information and sharing experiences about the RD situation, with the purpose to protect health and generate social protection for the population suffering this kind of diseases. At the same time, a common aspiration is to improve the patient organizations’ competitiveness. This can be done by dealing with the challenges imposed by, among other factors, the fragmentation process of patient organizations in the region, a situation that is settling thanks to the growing number of national and regional movements, which tends to generate a critical mass with social cohesion that impels public policies in its own favor.
Table 1, shows the observed action of some patient organizations who promote work in the Latin American region.
Table 1. Contribution of social movements for RD in Latin America and their social impact
|2002||Group of Connection, Investigation and Support in RD (Grupo de Enlace, Investigación y Soporte en ER – GEISER),10 the first patient’s organization that was created with the purpose to trigger the theme of RD in all Latin America and Caribe||Development of workshops, forums, and national, regional, and international congresses promoting the knowledge about RD and projecting the regional situation. It has also intervened on public policies projects, promotion and active participation in the ICORD (International Conference on Rare Diseases, a global conference about RD), development of investigation works with scientific centers and academic institutions as well.|
|2005||Latin Society of Pulmonary Hypertension (Sociedad Latina de Hipertensión Pulmonar – SLHP),11 an umbrella regional organization that assembles in Latin America, national associations of patients that live with pulmonary hypertension (Hipertensión Pulmonar – HP). The SLHP is internationally recognized for its attention to necessities and demands from the collective of patients with PH in Latin America.||Elaboration of the Framework Law* about RD for Latin America, from the Latin American Parliament; the promotion for the creation of a Law of RD in Chile and Guatemala, participation in the First Committee of RD created at UNO, among other forums, workshops and congresses.|
|2011||Colombian Federation of RD (FEderación COlombiana de ER – FECOER)12, aggregates more than 30 Colombian RD organizations.||Promotes national public policy (founder of the RD Board in the Ministry of Health, having also developed the Law of RD), recognition of affected people as subjects requiring special protection, co-creator of regulations and methodologies of public policy for RD. Develops studies about the Latin American RD legislative situation. Founder of ALIBER and HACERLA organizations, with representation at RDI (Rare Diseases International). Current proposer of the Community of Practice (CoP) in Public Policies for Latin America.|
|2013||By initiative of FEDER (Federación Española de Enfermedades Raras) and Latin organizations, it is constituted the Iberoamerica Alliance of RD (ALianza IBERoamericana de Enfermedades Raras o Poco Frecuentes – ALIBER) with the mission of being an Iberoamerican network of RD patients, in charge of coordinating the actions to strength the associative movement and give visibility to RD.
|Development of studies about the normative framework of RD in Iberoamerica, as well as a social work in the Iberoamerican RD associative movement. Participation in different empowerment forums in the region and in international congresses, having also representation at RDI.|
|It was conceived in Cartagena de Indias – Colombia – Initiative of the Latin-American Network of RD, further named Allies Brothers with RD in Latin-America (Hermanos Aliados Con ER en LatinoAmérica – HACERLA), issuing of the “Declaration of Cartagena”. The idea of this network was to extend it to all country-members.||HACERLA was constituted as a coalition of willing to work together for several Latin patient’s organizations. Despite to have created the regulation and all necessary documentation, it has not achieved a definite registration.|
*Framework Law = A law defining the general principles (objectives, priorities, limits, etc.) that should serve as framework to legislative action in a given area.
Proposal from Patient Organizations to Promote Equity, Integral Recognition, and Differential Focus in Latin America
Considering the absence of adequate marks of public policy for RD and resuming the hypothesis of the necessity of “patterns” for this policy, it is important to assure the two important principles for patients and their families – the differential focus and the integral recognition of affected people. For example, Colombia has concentrated on the things which, in the medium and long term, can begin to change the situation in Latin America — the deep knowledge of the problem, the public policies that should be followed or adapted to solve the problems, and the development and application of such policies, according to the two above mentioned principles.
From 2015 to the present13,14, Colombia, concluded that the starting point to approach RD would determine both, the course of the adopted public policy and the possibilities of greater or lesser access to health, by the population facing these pathologies. In the same way, the knowledge of decision makers about the adequate policies will determine the quality of these policies, their coherence, and applicability in the current regulatory and political mark.
Considering the rational for these lines of action, it is important to determine new strategies of joint work between Latin American countries, strengthening the capacities of country-members, and optimizing the resources management while adapting the existing knowledge to our own reality and generating new knowledge. Both, the social inequity and the low per capita incomes of Latin American countries become necessary to provide solutions that facilitate the approximation of leaders who, effectively, have interest in the resolution of the common problems. It is necessary to have leaders who seek and concretize collective agreements15 to produce practical solutions for the formulation problems of the national-regional-global public policy and, likewise, consolidate a regional voice based on consensuses and concepts, as well as on the formation of new leaders for the political incidence.
The initial proposal for Latin America is the creation, of a Community of Practice (CoP) in public policies of RD.16 This would be the first step to allow the permanent cooperation between the actors related to RD, the development of human talent and leadership, the discussion of common problems, the management of knowledge, and the empowerment and provision of solutions in public policy, which would be applied by the members nationally and regionally. Similarly, the intention is to convert the CoP in a reference for the provision of such solutions.
A CoP is defined as a group of people that believe in each other and share common interests in a specific area of knowledge, being then converted in basic units of analysis, learning, and intervention that generate an enormous value in terms of innovation.
The CoP in RD Public Policies for Latin America will function in a virtual platform named RECORRER (REd de Conocimiento, Orientación y RefeRencia en Enfermedades Crónicas y Raras or Network of Knowledge, Orientation, and Reference in Chronic and Rare Diseases), which will be under the direction of experts in aspects related to leadership, communities management, RD, human rights, and public policy, with topics defined and prioritized by the group and having an annual strategic plan that allows the support of results.
This CoP in RD looks for the interaction between social actors framed in their roles which, when examined face a problem, necessity or potential, generate intervention methodologies of policy and public opinion, with the purpose to produce a change in the social reality. The CoP projection means – in its phases of advanced development – to crystallize purposes by means of international collaborative projects, which promote the formulation and execution of local, national, regional, and global public policies, with differential focus, equity, and integral recognition by the RD patients and their families, favoring the resolution of the tremendous gaps that are placed in the application of distributive justice.
- Rare Diseases impose common problems and strong equity challenges to Health Systems and social protection, in the mark of distributive justice. Latin America does not escape from these challenges, which intensify due to our demographical, geographical, economic, cultural, and social characteristics.
- In all domains and due to the minority characteristics of RD population and its number of vulnerabilities, the measures taken require two fundamental principles: differential focus and integral recognition from the population. Amidst this focus, patient organizations play a crucial role in the recognition and provision of social solutions in Latin America.
- The generation and exchange of knowledge around the social and health phenomenon of RD is urgent, in order to promote the debate relating to themes of equity and social protection for the Latin American community who suffer these diseases; as well as to determine better practices for the development of coherent and systematic public policies.
- The solutions should be practical, applicable, and should transcend not only the geographic borders, but the association borders, the borders of particular interest for certain pathologies and, of course, the borders of knowledge in all of the domains: social, political, economic, and scientific.
- The proposal of creation of a CoP for RD is profiled as a viable solution to facilitate the interaction, collaboration, and cooperation between different agents, looking for the innovation in solutions of formulation of national, regional, and global public policy following effective patterns for this formulation.
- FEDER, Federación Española de ER . “Estudio sobre situación de Necesidades Sociosanitarias de las personas con Doenças Raras en España” Estudio Enserio. Outubro de 2009. [Internet]. Available at: https://www.doenças-raras.org/images/stories/documentos/Estudio_ENSERio.pdf
- Junta de Extremadura “Calidad de vida en pacientes con ER en Extremadura”. 2009 [internet]. Available at: http://amerbiblioteca.blogspot.com.co/2012/11/calidad-de-vida-en-pacientes-con.html
- Schieppati, Arrigo. Henter, Jan-Inge. Daina, Erica. Aperia, Anita. The Lancet [Revista en línea]. Why rare diseases are an important medical and social issue. Available at:
- Posada, C. Martín-Arribas, A. Ramírez, A.Villaverde, I. Abaitua. ER. Concepto, epidemiología y situación actual en España. An. Sist. Sanit. Navar. 2008; 31 (Supl. 2): 9-20.
- FEDER, Federación Española de ER. “Estudio sobre situación de Necesidades Sociosanitarias de las personas con Doenças Raras en España” Estudio Enserio. October of 2009. [Internet]. Available at: https://www.doenças-raras.org/images/stories/documentos/Estudio_ENSERio.pdf
- Orphanet [Website]. Lista de las ER y sus sinónimos. Júlio 2014. [Consulted on July, 2017] Available at:
- Eurordis (2005) [Website]. Rare Diseases: understanding this public health priority. [Consulted on October 3rd, 2011] Available at: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf
- F. Kingsmore, C. J. Saunders, Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine? Sci. Transl. Med. 3, 87ps23 (2011).
- Direcção-Geral da Saúde, Portugal. (2008). [Internet]. Programa Nacional para Doenças Raras (PNDR). [Consulted on November 12th, 2011]. Available at: http://1nj5ms2lli5hdggbe3mm7ms5.wpengine.netdna-cdn.com/files/2015/08/Programa-Nacional-para-Doen%C3%A7as-Raras.pdf
- Fundación Geiser Grupo de Enlace, Investigación y Soporte para Doenças Raras. Historia. [Website]. [Consulted on August 2nd, 2017] Available at: http://www.fundaciongeiser.org/geiser/historia/
- Sociedad Latina de Hipertensión Pulmonar. “Nuestra Historia” [Website]. [Consulted on August 2nd, 2017] Available at: https://sociedadlatinahp.org/la-slhp/nuestra-historia/
- Fecoer, Federación Colombiana de Doenças Raras. Nuestra Historia. [Website]. [Consulted on August 2nd, 2017] Available at: http://www.fecoer.org/nuestra-historia/
- Chaves Restrepo, Angela. “Estado del Arte de la Legislación en ER en América Latina”. Em: Conferencia Universidad ISalud. Maio, 2015: Buenos Aires Argentina. [Consulted on September 6th, 2016]
- Chaves Restrepo, Angela. “Influencing Public Policies to achieve true Recognition and support for population with Rare Diseases in Colombia and LatinAmerica“. In: conferencia en “The World Orphan Congress”. April, 2017: Washington. US. Available at: https://www.dropbox.com/sh/184oi9wcujf7gaz/AABTvcNML27diDCoWe9OUyjFa?dl=0&elq=3b855fc61d444172835382929c61635c&elqCampaignId=25666&elqTrackId=105F8842C4258CC886DCFDD175356FEA&elqaid=94779&elqat=1&preview=Angela+Chaves.pdf&utm_campaign=8651_WorldOrphanDrugCongressUSA2017_Customer7-+Presentations&utm_medium=email&utm_source=Eloqua
- Hearn, White, Nancy. “Communities of practice: linking knowledge, policy and practice”. Nov 2009. [Internet]. Available at: https://www.odi.org/sites/odi.org.uk/files/odi-assets/publications-opinion-files/1732.pdf
- Chaves Restrepo, Angela. ” Community of practice in public policies for Latam as an opportunity to build national, regional and global advocacy. “. In: Conferencia en “3rd RDI Membership Meeting 2017”. Barcelona. Junho 2017: Barcelona, Spain. Available at: http://www.rarediseasesinternational.org/wp-content/uploads/2017/06/RDI-presen-RECORRER-COP-PUBLICATION-06-17.pdf