Care situation for patients with rare diseases

In Europe, a disease is considered rare if it affects no more than one in 2,000 EU residents. In total, around 30 million people in Europe suffer from one of around 6,000 to 8,000 different rare diseases, around 4 million of them in Germany alone (Eurordis 2009). The number of those affected varies greatly between the diseases: one of the most well-known rare diseases, cystic fibrosis, affects around 8,000 people in Germany alone (Eurordis 2009), and the disease NBIA - nerve degeneration with iron storage in the brain - is estimated to be only in Germany About 100 patients are known. Anyone who struggles with an illness that hardly affects anyone else encounters special challenges: a lack of knowledge among doctors, nurses and therapists, a lack of treatment options, and geographically widely distributed expertise. The lower the prevalence of the often chronic and progressive multi-organ diseases, the less research is available on treatment and care options.

>> Particularly due to the deficits in research, we also speak of the “orphan diseases”. Rare diseases are defined using the epidemiological criterion of prevalence, but they also combine other characteristics. The course of the disease varies greatly from patient to patient within a clinical picture, so that the ability to standardize treatment is limited. The complexity of many diseases requires comprehensive approaches to treatment. A multidisciplinary exchange forms the basis for the successful implementation of coherent solutions. The rarity of the diseases is also reflected in the rarity of specialists, so that there is a lack of doctors, therapists and nurses with specific expertise, particularly in the area of care close to home. Both diagnosis and medical care are made more difficult by the prevailing lack of knowledge on the part of those involved. Due to the pronounced division of labor in care and the spatial distribution of expert knowledge, serious coordination problems can arise that hinder adequate care for patients with rare diseases.
A survey study to analyze
patient-centered care teams
Through expert discussions with medical service providers and representatives of self-help organizations, six clinical pictures were selected in an iterative process based on the criteria (1) differences in the intensity of care and provision, (2) the need for multidisciplinary collaboration and (3) differences in prevalence, which can be found in the above-mentioned distinguish criteria.
With regard to criterion 1, 90 % of all respondents in our study with Wilson's disease have no care level and 100 % of all patients with Marfan syndrome do not have care level either, whereas 67 % of patients with epidermolysis bullosa have care level I or II, while 76 % of the NBIA Patients have care level II or III, in ALS there are 72 % and in Duchenne muscular dystrophy sufferers 53 % with care level II or III.
The participants in our study were recruited through information brochures in hospitals, practices and through information from self-help organizations. The study participants received an information text in the form of an information sheet in which they explained in detail the objectives and procedures of the study, as well as the time it took to complete the questionnaire or the length of the interview, and the possibility of withdrawing from their willingness to participate at any time and without consequences. After willingness to participate was declared, the questionnaires were sent out together with a list of the members of the respective individual care team. The response rate from patients was 72 %. In a further step, 118 partially standardized telephone interviews were conducted with those affected in order to shed more light on the situation of care for rare diseases and, in particular, the points of coordination, coordination and information transfer within multidisciplinary teams and to uncover potential opportunities and barriers. The patient survey was followed by a written survey of the medical service providers who are actively involved in the care process of the patient-centered teams, with a response rate of 38 %.
Multidisciplinarity in care
A care team is formed around a patient with a rare disease, in which various professions at different hierarchical levels have to interact in order to obtain information on treatment methods, care processes as well as the current status of research, diagnosis, symptoms and remedies and aids. These teams often consist of general practitioners, specialized specialists (established or inpatient in hospitals), therapists (such as physiotherapy, occupational therapy, speech therapy, psychotherapy, homeopathy, etc.) and nursing staff. The patient survey shows that in this sample a care team consists of an average of 5 members - with the team size varying between 2 to 14 providers depending on the severity of the disease and the variety of organ involvement. According to the patient survey, it takes an average of 29 months for a suitable and appropriately specialized care team with all the necessary experts to be formed.
Due to the complexity and often chronic manifestations of rare diseases, specialized and complex treatment measures are usually required, which generally cannot be provided by established specialist practices and therefore require the involvement of specialized centers. The present study confirms that, in addition to treatment by general practitioners and specialists and, depending on the severity of the disease and the individual state of health, the involvement of nursing staff, the services offered by competence centers or special outpatient clinics are used. More than 70 % respondents receive regular treatment in a specialized center.
Knowledge deficits in care –
the role of the patient
Before teams of experts are formed to provide care, there is the dilemma of correct diagnosis, especially with rare diseases. The patient survey showed that for patients with rare diseases, an average of 39 months elapse between the appearance of the first symptoms and the correct diagnosis. Many patients suffering from a rare disease often go through numerous unnecessary doctor visits and examinations as well as misdiagnoses that are made in the course of their suffering until the actual diagnosis is found (Faurisson 2007). It is often a coincidence that the exact cause of the symptoms is found. This fact is often due to the fact that there are very few experts in the field of rare diseases - which are characterized by a low prevalence per clinical picture and a simultaneous diversity of diseases. No doctor is able to know or even diagnose all of these clinical pictures. This requires detailed work in order to find the correct diagnosis from a variety of symptoms. The frequent disappointment caused by misdiagnoses and the severity of many rare diseases often leads to patients becoming the actual experts on their illness. Patients become active themselves and research or search intensively for information, on the one hand to get closer to a diagnosis, on the other hand to find suitable treatment methods and to come into contact with other affected people in order to generate disease-specific knowledge. This explicitly includes relatives who play a central role, particularly if the patient is severely mentally, psychologically and/or physically impaired or is a minor. Those affected are sometimes better informed than their doctors, which, however, results in further difficulties (Eidt et al. 2009). Traditionally, patients trust in the knowledge of medical service providers, in their competence and experience and are afraid to reveal their knowledge or ideas regarding diagnosis and/or treatment options to their doctors and therapists.
According to our survey, the Internet and self-help organizations are the most important sources of information, followed by exchanges with providers and other affected people to find out more about rare diseases (see Fig. 1). 65.5 % of patients rate their knowledge of healthcare-related topics as valuable or very valuable for their providers. Our survey reveals a discrepancy between existing expert knowledge on the part of patients and the need to pass on or accept this information on the part of medical service providers. On a 7-point scale (1 = completely disagree to 7 = completely agree), 72 % (6 = agree and 7 = completely agree) of patients agree with the statement that they always remain well informed about issues , which could be useful for their providers, but only 53 % of the patients surveyed actually pass on the solutions they developed to their providers when there are problems in care or 58 % express suggestions for changes in the care process (see Fig. 2).
The special challenges that arise in the care of rare diseases imply the development of new patient-centered care concepts in every specific treatment context. For this purpose, a holistic exchange of knowledge and the resulting ideas is of great importance for the successful implementation of coherent solutions. In the study, patients were asked how many of their own ideas they had, passed on or even implemented in care in the past 24 months. Here, too, it can be seen that patients are actively looking for solutions, but there is a lack of options and acceptance among providers when it comes to implementing these ideas (see Fig. 3).
Coordination and coordination
Due to the patient's strengthened role as an expert on his illness, he also takes on a coordinating role within the care team. It ensures the exchange of information and the transfer of knowledge between the individual service providers and conveys valuable information regarding therapeutic measures, the use of remedies and aids as well as changes in care. In our study, all members of the individual patient-centered teams were asked how much professional providers and those affected are involved in coordinating the flow of information and coordinating overall care within the teams (see Fig. 4). The provider survey showed that patients are assigned a dominant role, whereas the family doctor only takes on moderate to little coordinating tasks. This was also prominently discussed in the patient interviews: “As a relative, I play a very central role in coordinating the entire care system, otherwise no one cares […].”. This extends in particular to interaction with health insurance companies, for example when approving required aids. Special outpatient clinics are also considered to be strong in their coordinating role. This underlines the need to set up centers for specialized treatment of patients with rare diseases and as a contact point for doctors who can find support here, particularly in the diagnosis and treatment of these very complex diseases. Health insurance companies or the medical service of the health insurance companies (MdK) must also actively participate in the exchange of information as a member of the patient-centered care teams and react adequately.
discussion
The present study includes indications with different care intensity, multi-organ involvement and prevalence. Since the evaluations showed a very consistent picture across all diseases, our results can also be transferred to other rare diseases. In summary, it can be said that, particularly in the field of rare diseases, it is particularly important to find a multidisciplinary team of experts who, on the one hand, are located close to the patient and, on the other hand, have the necessary access to specialized knowledge in distant centers. It is essential to exchange experiences and share knowledge
to promote transfer between all experts involved. The patient should be considered at the center of a care team made up of multidisciplinary care providers. The active search for information by patients and their relatives also creates great potential for knowledge that cannot remain unused. Patients are also involved in the coordination of care alongside specialized centers. In doing so, they must be supported, for example, by application-oriented guidelines and helping bodies, and on the provider side, the openness to impulses from patients must increase.
Treatment should take place at regular intervals in a disease-specific specialist center. Through the
Section 116b SGB V has already made it possible to use specialized hospitals for outpatient treatment. At the same time, these centers offer a consultation option for providers close to home. In the context of rare diseases, awareness of what is rare or unknown must be increased and how to deal with inevitable gaps in knowledge must be learned. Drawing on the expertise of other service providers must become a matter of course. The patient, as an expert in his illness, should also be heard by his care team and continued implementation of his solutions must be guaranteed. Exploiting this potential is essential, but it must not be a prerequisite for adequate care. Socially disadvantaged or educationally disadvantaged patients must not experience any disadvantage as a result and require special support from external bodies. The concept of a case manager could be used to take over the coordination and planning of medical or social services (e.g. BMG 2000). <<