People affected by Rare Diseases
People affected by rare diseases join together a broad set of heterogeneous diseases.
The common characteristic is that there is incomplete knowledge and multidisciplinary interventions are required.
In general, they affect an unknown number of people, although it tends to be small.
It is estimated that there is 1 case per 2,000 people in diseases that can be fatal or cause chronic debilitation of the patient.
Therefore, they pose a challenge in terms of public health due to the lack of information on their magnitude, evolution and trends; In addition, many of them present a chronic and disabling course, generating a negative impact on the affected people and their families.
For all these reasons, there are numerous initiatives in the health, social and educational fields, in essence, they seek to improve this situation of uncertainty through coordinated actions.
In recent years, social and institutional concern towards minority diseases has increased.
In response, numerous national and international associations, institutes and consortia have been created.
Numerous publications have also been written, although various projects and regulations have also been carried out.
BASES OF KNOWLEDGE
Rare diseases can manifest at any age and present a wide diversity of alterations and symptoms that vary not only from one disease to another, but also from one patient to another depending on the degree of involvement and its evolution.
The Network for Research in the Epidemiology of Rare Diseases sets out the following criteria for a disease to be considered rare:
The pathogenesis is considered to be an imbalance between the destructive proteolytic load resulting from inhaled proinflammatory factors and the alteration of defenses that occurs in AATD.
- Little etiological knowledge
- Lack of curative treatment or low accessibility
- Significant burden of disease or limitation of quality of life.
European Union proposals driven to people affected by rare diseases
Decision 1295 (1999) of the European Parliament and the Council, in coordination with other community measures, is intended to guarantee a high level of health protection against rare diseases.
The proposed initiatives are the following:
- Improve knowledge about them.
- Promote and facilitate access to the information network on rare diseases, especially for health professionals, researchers and people directly or indirectly affected by these diseases.
- Strengthen transnational collaboration between volunteers and professional organizations that provide assistance to these people.
- Guarantee adequate management of the temporal-spatial groups of patients or clusters of those affected.
To ensure equity for access to diagnosis, treatment and care” through the following actions:
- Creation of reference centers
- Improving access to orphan drugs and promoting research into rare diseases.
- The recognition of rare diseases as chronic and their priority nature.
- The need to initiate epidemiological studies.
- The development of information for patients and health professionals, as well as the training of these professionals.
- Creation of the National Health System Strategy on rare diseases.
Spain promotes the dissemination of knowledge on Rare Diseases
In Spain, the main mission of the Institute for Research on Rare Diseases (IIER) of the Carlos III Health Institute (ISCIII) is to coordinate the actions of the twelve research networks for Rare Diseases.
One of them, the REpIER network, has as its main objective to develop an epidemiological research program for rare diseases in Spain, which provides greater knowledge of their situation, in clinical, epidemiological and therapeutic terms, at the same time that provides a more appropriate orientation for the development of socio-sanitary action guidelines.
Andalusia supports research
In the European Union, a rare disease would be one that does not affect more than 227,000 people.
If it is estimated that there are between 7,000-8,000 diseases that affect 6-7% of the general population:
- In the European Union, between 27-30 million people could be affected.
- In Spain between 2.5-3 million people
- In Andalusia, approximately 500,000 people.
The Andalusian Care Plan for People Affected by Rare Diseases began in 2008 to address this complex public health problem.
The general objective of the Andalusian Plan is to ensure adequate planning and management of health resources for the care of people with rare diseases and their families, so that their high quality and accessibility can be guaranteed under conditions of equity.
Its aim is:
- To increase epidemiological knowledge about rare diseases
- To improve the access of affected people to safe and quality care and attention.
- To improve the management of knowledge in rare diseases, the training of professionals and encourage research.
- To develop updated information on rare diseases of interest to affected people, health professionals and society in general.
- Recognize the specificity of rare diseases and address them as a whole from the health system with a global strategy, with the participation of associations of affected people.
Common factors in People affected by Rare Diseases
Some of the characteristics that make rare diseases considered as a whole constitute a Public Health problem are:
- Tendency to chronicity and disability, most of the time with a high family, social and health cost
- They carry a significant burden of disease or limit the quality of life of the people affected and those around them
- Entities of high etiological, diagnostic and evolutionary complexity
- Lack of curative treatments or low accessibility to them
- Promote situations of inequity in the accessibility to complete health care, by requiring means of prevention, diagnosis and expensive or complex treatment (genetic analysis, orphan drugs…)
- They lack a specific approach, since unlike prevalent chronic diseases, rare diseases are not the reason for scheduled health actions, for the purposes of management, provision and coordination of services
- Difficulty knowing the distribution of patients and operational health resources (reference centers, professional teams and researchers)
- Little or insufficient useful information for the people affected and for the professionals responsible for their care
- Lack of adequate development of specific competencies among health professionals
- Its low frequency, the geographical dispersion of patients and the lack of records, among other aspects, make it difficult to research new treatments, the demonstration of hypotheses about the etiology of these diseases.
Minority respiratory diseases
Minority respiratory diseases account for approximately 3% of all rare diseases
This approximation is based on the Orphanet catalog of rare diseases (www.orpha.net), which has 5954 diseases, of which 181 correspond to lung diseases.
In the first ERM Forum, held in February 2010, at the SEPAR headquarters in Barcelona, the first ERM FORUM was held. The highlights that were gleaned from these forums were:
- The delay in the diagnosis and the uncertainty about it due to the difficulties of professionals to accumulate experience on rare diseases or access specialists.
- The complexity of diagnostic tests and treatments, both during the course of the disease and after the transplant, make patients highly dependent on referral hospitals and specialists.
- Patients with rare respiratory diseases feel that they are an underrepresented minority both among respiratory patients in general, and among the group of rare diseases of other origin.
- Lack of knowledge about these diseases also poses problems of a social or legal nature, such as variability in access to disability or dependency benefits or discrepancies in the availability of oxygen therapy devices.
- Research in this field encounters more obstacles than in more prevalent pathologies.
- This concern materialized in the proposal to dedicate the year 2012 to MREs.
The SEPAR ERM Year was intended to:
- Provide professionals with training and documentation that allows them to improve their knowledge of minority diseases
- Have fully updated reference materials.
- Work as a team with patient associations to enhance their work to support those affected.
- Improve the knowledge of society and institutions about respiratory diseases.
- Encourage research.
- Share experience among professionals and improve knowledge of the disease (registries, research…).
- Be accessible to patients, clinicians, scientists, who need advice on ERM (materials, training, networking).
- Establish alliances with patient associations to jointly transform the natural history of the disease (expert patient).
It is a rare disease characterized by abnormally low concentrations of Alpha-1 Antitrypsin (AAT) in plasma.
- This is one of the best known and most frequent genetic causes.
- On the other hand, it could lead to chronic obstructive pulmonary disease (COPD), emphysema, or liver disease.
In search of the cure
Despite the well-known relationship of COPD secondary to AATD, it continues to be a challenge because it is a disease with a high underdiagnosis.
Another goal is to disseminate knowledge of this disease from a basic point of view (etiopathogenesis and epidemiology), as well as its treatment.
Its status as a minority respiratory disease makes it necessary to concentrate the cases detected in AATD Centers of Excellence, with the aim of generating knowledge about the disease and developing lines of research.