Empowerment of patients: Lessons from the rare disease community
Ségolène Aymé, Anna Kole, Stephen Groft
Lancet 2008; 371: 2048–51
The World Bank defines empowerment as “the process of increasing capacity of individuals or groups to make choices and to transform those choices into desired actions and outcomes”.(1) WHO has described empowerment as a “prerequisite for health” and “a proactive partnership and patient self-care strategy to improve health outcomes and quality of life among the chronically ill”. (2) Empowerment is an action-oriented notion with the focus on removal of formal or informal barriers, and on transformation of relations between communities and institutions. Defined as such, empowerment is a necessity for patients with rare diseases, which are chronic, difficult to manage, so rare that coordinated efforts are imperative to make progress, and largely disregarded by the research or medical community and policy makers. It has been effectively applied in the rare diseases community, as exemplified by the role of patients’ organizations in fostering appropriate policy, research, and health-care provision. A WHO theoretical model of empowerment strategies and outcomes serves as a framework on exemplary progress made in patient empowerment with rare diseases. (3)
In most developed countries, the emergence and empowerment of patients’ organizations began with the first organizations for people with chronic diseases in the 1950s. During the past half century, the patients’ movement has been characterized by several assertions. The first was the identification of patients as a group facing similar obstacles. The second was epistemological, with patients judging that their shared experience constituted knowledge different from that of health professionals. The third claim was political, with patients believing it legitimate to have a say in decisions about their disease. (4) These claims were recognized and eventually led to the acknowledgment that patients’ empowerment improved health outcomes. Evidence shows that health outcomes in strategies to empower patients take place through direct pathways, including individual effective decision making, management of disease complications, and improved health behaviours, and indirectly through strengthened support groups, empowerment of caregivers, and improved access to and efficient use of health services.(5)
The idea of the expert patient has emerged, transforming the patient into a reflexive consumer who makes active decisions.(6) Individual empowerment is a reality for patients with rare diseases, and has been mediated by the rapid growth of web-based health-related information, by the possibility of establishing or joining online transgeographic communities for people with the same disease or the same problem, and by the availability of help lines and other support services offered by patients’ organizations. Although some health-care professionals fear that expert patients will challenge medical power and health-care services, (7) most encourage the patient’s acquisition of information that will help communication and build a collaborative relationship between patient and professionals. (8,9) Empowerment strategies in the rare diseases community such as access to information on the basis of indigenous knowledge, finding supportive groups, and having dialogues have led to reduced social exclusion and health disparities, and built a sense of community. (10)
Although participatory processes are fundamental to empowerment outcomes, participation alone is insufficient if it does not also build capacity to challenge non-responsive or oppressive institutions and to redress imbalances. In the community, patients have to participate in the decision-making process through advocacy groups. This participation requires a sense of community, an organisation capacity, and collective actions in a conscious society. Organisational effectiveness and capacity have to be judged on the sustainability of the organisations, their ability to add more members, eff ective leadership, and capacity to empower their members. Last, patients’ organisations have to be able to transform socioeconomic factors and policies.
There are well established patients’ organisations, both nationally and internationally, with a focus on a specific rare disease or rare diseases in general. In the USA, more than 1200 patients’ organisations active in one or more rare diseases are linked to one of the major networks such as the National Organization for Rare Disorders (NORD) and the Genetic Alliance, which greatly affect the political agenda. Although younger than their American counterparts, the number of organisations in Europe is similar. The Orphanet database lists 1673 organisations federated by the European Organisation for Rare Diseases (Eurordis), an umbrella organ isation set up in 1997, and by national alliances in eight European countries. As a result of this collaboration, patients in both the USA and Europe have one voice both nationally and at the European Union level.
An equally important result of this organisational empowerment is the production of reliable educational materials. Almost all US support groups have set up their own websites providing access to educational material. In Europe, Orphanet lists more than 4600 web-based resources for more than 1500 rare diseases. These support groups produce information about the diseases, available treatments, and the location of knowledgeable clinicians. Successful completion of this information is often the result of collaborations involving patients, physicians, other health-care providers, the research community, and the pharmaceutical industry.
Patients’ organisations have a role at all levels, from research funding to regulatory aspects of the orphan-drug market, including production of educational information, and the design of public policy and study projects. The notions of rare diseases and orphan drugs were established by a coalition spearheaded by patients’ organisations and included the academic community, federal research and regulatory agencies, and the pharmaceutical industry in the USA. In 1983, the Orphan Drug Act was adopted in the USA, followed by a similar legislation in Japan, Singapore, and Australia. Policy focus on rare diseases reached Europe in 1999, when the European Parliament adopted the Regulation on Orphan Medicinal Products because of lobbying by the rare diseases community.
After adoption of the law, the European Commission’s Committee for Orphan Medicinal Products (COMP) was created to review applications for drugs that wished to qualify for the label orphan. Through a communication the European Commission set clear priorities and placed patients at the centre of the agenda. This communication recognised the changed role of patients, and soon three patients’ representatives became full members of COMP, marking the fi rst time that patients were granted power to directly make decisions at a governmental agency. (12) This change opened the door to involving patients in other domains such as transparency and dissemination of information, product information, pharmacovigilance, and interaction between the European Medicines Agency and patients’ organisations. Rare diseases are a priority in the 2003–08 public-health programme of the European Union, which supported the establishment of a Rare Diseases Task Force in 2004 with representatives from patients’ organisations.
In a few European countries, rare diseases are officially on the political public-health agenda.13 France has the most comprehensive action plan14 and longstanding awareness of rare diseases set up through the telethon run by the French Muscular Dystrophy Association (Association Française contre les Myopathies), which raises more than €100 million every year. In the USA and Europe, patients’ advocacy groups were instrumental in the adoption of policies favourable to patients with rare diseases and serve as an example of empowerment at the macro-political level (table).
Organization and website Activity Outcomes
European Organisation for Advocacy and lobbying European Orphan Medicinal Products Regulation 1999
Rare Diseases (Eurordis) Legislation three representatives on the EMEA Committee
http://www.eurordis.org for Orphan Medicinal Products
Research European conference on rare diseases held once collaboration, every 2 years
awareness
National Organization for Advocacy and lobbying Orphan Drug Act 1983; Office of Orphan Products
Rare Disorders (NORD), USA Development in FDA; rare disease Act
http://www.rarediseases.org Funding Funding US$4·5 million for 110 grants as seed money
Education Physicians’ guide to rare diseases
Association Française contre les Advocacy and Telethon allowing financial independence
Myopathies (AFM), France Fundraising
http://www.afm-france.org/ Funding Annual contribution to Platform of Rare Diseases
in Paris
Advocacy and lobbying French National Plan for Rare Disease
Research and funding €40 million contributed yearly to research funding
established Myology Institute, set up laboratory
Généthon, 14 worlwide DNA and tissue banks
Genetic Alliance, USA Research and funding Genetic Alliance Biobank
http://www.geneticalliance.org Education Guides for advocacy and understanding genetic
diseases
Children Living with Inherited Funding and fundraising Research grants, grants to families in need
Metabolic Disorders (CLIMB) UK Awareness, education Magazine, free helpline, patient internet forums
http://www.climb.org.uk/ and support
Dutch National Alliance for Advocacy Representation on the Dutch steering Committee on
Genetic and Rare Diseases Orphan Drugs, statdards of care for metabolic
(VSOP), Netherlands diseases in Dtuch academic centres
Education 40 rare disease-specific brochures; Centres of
of Referenced Manual for patients' organisations
European Platform for Patients’ Education 16 workshops with patients' groups, academia
Organisations Science and and industry
Industry (EPPOSI), Belgium Advocacy European Union policy recommendations,
http://www.epposi.org/ European Orphan Medicinal Products
Regulation 1999
European Research Network for Research Research ERNAH for SMEs project,
Alternating Hemiplegia (ERNAH), epidemiological register contriburing to orphan
Austria http://www.enrah.net/ drug develoopment, registry of cases alternating
hemiplegia in children in Europe, expert database of research project profiles to promote
collaboration
Danish Centre for Rare Diseases Education Gathering and dissemination of information
and Disabilities, Denmark of information on rare diseases
Support Counselling to patients and professionals
on social problems related to rare diseases
The Ågrenska Centre, Sweden Support Family activities and respite services
Research Database of pedagogical consequences
of rare diseases
Education Newsletter with information on rare diseases,
seminars, courses, and conferences
International Prader Willi Awareness International conferences, support development
Syndrome Association (IPWSO) of new PWS Associations
http://www.ipwso.org/home.html
Research collaboration Stimulate cooperation on international PWS
research projects through management
of national PWS associations
Education Disease managements guides in four languages
Pseudoxanthoma Elasticum (PXE) Advocacy Set up by partents ot two children with PXE
Internationalhttp://www.pxe.org/ Funding Raise money for research
Research Co-inventor of a pattent issued by the US PTO,
developed biobank initiative for PXE and
other genetic diseases
Progeria Research Fondation, Advocacy Established by a paediatrician who has a
USA http://www.progeriaresearch.org/ child with progeria
Research Research Co-author of peer-reviewed article
describing the progeria gene, inventor listed on
patent application
Cardio-facio-cutaneous (CFC) Advocacy Set up by mother of child with CFC syndrome
International Research Development of DNA biobank pivotal in identifying
http://www.cfcsyndrome.org/ components of the MAP-kinase pathway mutant
in this disorder
AFM, France; Muscular Dystrophy Advocacy Signed a memorandum of understanding to
Association (MDA), USA; Parent initiatae the Duchenne Research Collaborative
Project Muscular Dystrophy (PPMD), International
USA; United Parent Project Muscular
Dystrophy (UPPMD), USA Research Set up a coalition to pool knowledge and resources
in an attempt to accelerate development of
treatments for DMD, goal of establishing a
clearinghouse for research grants and
location of research resources,
development of global patient registry,
global clinical trial network
DMD=Duchenne muscular dystrophy. EMEA=European Medicines Agency. FDA=Food and Drug Administration. MAP=mitogen-activated protein. PTO=Patent and Trademark Offi ce. PWS=Prader Willi Syndrome.
SME=small and medium enterprise.
Table: Contributions by organisations for patients with rare diseases
Patients’ empowerment is most impressive in research. The contributions of patient advocates and their organisations until recent years have focused on their role as participants in clinical studies as contributors of tissue, blood, or other specimens, and fi nancial supporters of many research projects. Reports of a more active worldwide role of patients and family members dedicated to fi nding a cure for their disease are increasing, as is raised recognition of their role as study collaborators. Several examples show the breadth of these accomplishments, many of which need worldwide collaborative research eff orts (table). Members of patients’ organisations have not only advocated for research projects in rare diseases, but also designed, participated in, and led state-of-the-art study initiatives, many of which have been reported in leading peer-reviewed journals. (15–20) The expanded and empowered role of patients, family members, and patient-advocacy groups could become more prominent in the specialty of rare diseases. These roles will also continue to serve as a model for all patients’ groups that continue to seek better diagnostics and interventions for their diseases.
Patients with rare diseases and their support organisations are among the most empowered groups in the health sector, mainly as a result of their own fight for recog nition and improved care. They have led the way for a new era by bridging the gap between public research, which overlooked their demands and expectations, and market-driven research, which confi nes research projects to those profi table enough to justify private investments. Patients’ organisations have an active and instrumental role in estab lishing research policies and projects for rare diseases. (21–23) Thus, patients are directly shaping their future.
Conflict of interest statement
SG’s department has provided support to organisations for several projects discussed in the text. These awards were part of the usual grant and contract mechanisms of the US National Institutes of Health (NIH) and their peer review system. The Office of Rare Diseases is fully funded by the NIH, Department of Health and Human Services. The department of SA and AK is partly (5%) funded from industry sponsorship from a group of six companies and by the French Pharmaceutical Industry Association. Orphanet, which is produced by their department, is cited several times in the text.
INSERM, Orphanet, Paris, France (S Aymé MD, A Kole MPH)
Office of Rare Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA (S Groft PharmD)
Correspondence to:
Dr Ségolène Aymé, INSERM, SC11 , Orphanet, 102 rue Didot, 75014 Paris, France
ayme@orpha.net
The Myelin Project wishes to thank Dr. Astrid James and the publishers of The Lancet for granting us permission to post this article.
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