Based on the evaluation of the interviews, a multitude of different information sources used by patients and their relatives for gathering information on rare diseases was revealed. The authors disclosed four main themes that were of importance in nearly all interviews. These main themes include the “internet as the first source of information” (theme 1), which describes the relevance of online searches for those affected. The second theme highlights the role of patient organizations and other patients in the information retrieval process, which allow for communication at peer level. Doctors and their perception as a source of information by persons affected is illustrated in theme 3. Lastly, theme 4 deals with written information.
The internet as the first source of information on rare diseases
Many of those interviewed reported in detail about their struggle to receive a correct diagnosis. Often this meant a long-lasting and emotionally charged odyssey. The need for information, once a diagnosis has been made, was accordingly high. In this context, for almost all the respondents, the internet and especially search engines such as Google were one of the first sources to search for information on their own or their relatives’ disease. According to the interviewees, this allowed them quick and uncomplicated access to information. In this context, different approaches to how to proceed when searching online for information were identified. Most of the participants simply googled their disease and clicked in a more or less unstructured or unskilled manner through the provided information websites, while others advanced more systematically. In many cases, it was possible to establish a connection between people`s searching approach and their prior knowledge. Patients or family members, who work in the health sector and are familiar with medical terms, demonstrated a more targeted and satisfied approach to research online than those without medical backgrounds. Moreover, people who are familiar with online searches reported fewer difficulties.
“It was when everything was new. We took in all the information we could.” (M47, 59 years, P)
“Well, the information is primarily shared over the internet.” (F14, 57 years, P)
“(…) I enter it into the internet and then find the information. It would now be the easiest and quickest way for me.” (F17, 47 years, P)
“Well, when I am looking for something like this, I will look at Wikipedia first, because I think it’s great and well-structured. Yes, then I do not know anymore. Then you land somewhere at large. What just/ whichever link appeals to one, but I cannot recite it now.” (F67, 45 years, R)
Even though, the internet was perceived as providing easy and quick possibilities for information seeking, most respondents did not report satisfaction with the search results at the beginning of their research. Dissatisfaction, for example, arose when only little information was available. This was particularly the case when people were affected by very rare diseases with only a few sufferers or few research efforts. Otherwise, finding a multitude of information was also challenging for searchers. Interviewees, who told us that there was a wide range of information, often felt they are not enough of an expert to manage these amounts of data. Moreover, people suffering from diseases that proceed differently in each individual case recounted problems comprehending what information is correct for specific cases. Younger persons and people who use the internet on a regular basis reported fewer difficulties with large quantities of information than those who are unskilled in online searches and of older age. Moreover, it could be seen that people reported fewer difficulties as the disease progressed and their expertise grew.
“I also think that it is better, I think it sucks when there are several million websites when you look up cancer or the like. I also think that if someone gets diagnosed with cancer, he immediately wants to know what impact it will have. If there are then a thousand websites, you will go completely crazy.” (F17, 47 years, P)
Another challenge reported in connection with online searches was that of dealing with information that is perceived as frightening. Many interviewees told us that when they started searching, they found information on the internet that was shocking, for example regarding life expectancy, severe courses of disease, etc. This information was so dreadful that some of our interviewees did not continue their online research. In this regard, some patients criticized being left alone with their findings and worries and wished for greater support from their doctors. Being alone with this information, in their opinion, could incite panic or despair. The results suggest that when people start searching they do not have enough expertise or support by others to put information into its proper context and assess it correctly. Our interviewees, in this connection, expressed the need for a closer support, especially by their doctors.
“Well, I was only on Wikipedia. What I read there shocked me, because it sounded extremely bad. After that, I never went onto the internet again.” (M60, 46 years, R)
“You stand there alone, and that is, that is the problem, when you stand alone with your illness. Err. Meanwhile you think about it and say: Mhh. And now?” (M38, 60 years, P)
Furthermore, peoples´ perceptions of the utility and credibility of the information found online varied greatly. This became obvious in regard to who is behind the information (website), what information is communicated, and how. Since most patients and their relatives barely know about their own or their relatives’ disease shortly after diagnosis, the assessment is based partially on who is the websites’ operator rather than on the contents of the information itself. Many of our interviewees first encountered Wikipedia when they started searching online. Some of them rejected this website, since the information offered there was too generic for them. Others criticized Wikipedia because it does not control its information, which can be changed arbitrarily by anyone at any time. In contrast, other patients and family members expressed positive views about it. From their point of view, especially in the beginning, Wikipedia is a good source of information to get an idea of the disease, its causes, symptoms, and progression. It was also highlighted that this information, compared with others, was clearly structured as well as quickly and freely available. Looking back, some people who now have an extensive knowledge on their disease rated the quality of the information offered there as good or high.
“(…) and then, after the appearance, one decides what is serious, yes, who is behind it, (…) are the err, here mmhhh Alliance of the chronic/well, the ACHSE associated, NAMSE associated, yes.” (F35, 44 years, P)
“Yes, I had, of course, I have. I then do not want useless information, because of my job I also have reasonable/ well, I would never at Wikipedia, we already had it.” (F19, 44 years, P)
“I just entered it and then usually ended up at Wiki. Wikipedia. It was the most reliable for me.” (F14, 57 years, P)
Medical databases on the internet, such as PubMed, were hardly used. Often only interviewees with medical backgrounds reported knowing these sources of information. This was described as an advantage in relation to other patients who do not have medical backgrounds, due to its high quality and current information.
“I therefore rather checked at PubMed or so, but it was of my advantage, because I have been active in the field myself.” (M65, 40 years, R)
Patient organizations and other affected persons – information sharing at peer level
In many cases searching the internet for information helped patients or their family members to contact patient organizations at an early stage. No interviewee reported being informed by their doctor about this way to receive support and information. Almost all our respondents who used a patient association website valued their supply of information highly. One person, however, criticized that their information was not comprehensive and current enough regarding new developments and findings. Another patient, who visited a website that was not specialized on one disease but a group of diseases also reported lower satisfaction, since there was detailed information only on the more common rare diseases. Other interviewees praised their relevant and helpful information. In particular, concerning information on issues in everyday life, such as finding specialists near to home, dealing with the disease in family and working environments, etc., self-help organization websites provided crucial hints. One person especially emphasized that his patient association helps to make the latest findings accessible to the general public by translating English scientific articles into German and displaying them on the website. Thus, patient organization websites contribute to knowledge transfer and access. For many of our respondents, patient association websites provided the most reliable and high-quality information, so that after identification, no further websites were used.
“Well the main information, the thing that helped with our progress the most, was the support group. The exchange actually starts there, when you join in on the conversation at eye level (…).” (M58, 48 years, R)
“It strengthens one, when you sometimes think you are insane. (LAUGHS) Yes, because everything changes and one thinks, yes why am I feeling so bad, why am I always tired and hurting? But when you have the opportunity to exchange stories err, then you can put your mind at rest, because you learn that, ok, it is normal.” (F31, 36 years, P)
“No. I never looked it up, because I have to say, up to three years ago we regularly participated at the annual meeting of the support group or the regional meeting in LOCATION and therefore the information actually was sufficient.” (F51, 62 years, P)
Interviewees particularly valued the close personal contacts made with those committed to self-help. While there is sometimes too little time for patients in the medical setting, in the self-help field patients with rare diseases and their relatives often feel that people take a lot time for their issues and needs. It was often reported that the personal contact resulted in a close and strong contact between existing members of the patient organization and the interviewees for years. Furthermore, people see information from patient organizations as an opportunity to gain practical knowledge that goes beyond the perfunctory information they receive from the internet. Since rare diseases often show an individual progression, online information is perceived as too generic, while self-help contacts meet the demands for more specific information.
“I then called the chairman myself and he immediately took an hour of his time and answered everything, the questions, that I already had and more (…).” (M64, 46 years, R)
“And those are the information, which the doctor does not give you, how I deal with everyday life, when I need what.” (F22, 72 years, P)
I: “How do you judge the quality of the information?”
P: “That however is good, well only the information about the support group, nothing else.”
I: “And the information, that you found on other sites in the internet?”
P: “No. It was too general, unmeaningly.” (F10, 50 years, P)
Nevertheless, some patients feel no need for personal exchange or even reject the principle of self-help. This is based mainly on the assumption that it only serves the purpose of commiserating with each other. Others see no additional benefits since disease progression differs too greatly from one person to the next. However, it is noticeable that persons who are reserved about the idea of self-help, often have no practical experience with it at all.
“Whining does not help; therefore, I do not sit down and moan. I do, however, understand the people that complain in the support group. Yes, I do not know if it helps them.” (F39, 62 years, P)
Physicians, basic health care provider and highly specialized experts
During their medical care process, patients and their families often met many different physicians. Although some patients reported receiving a quick diagnosis and were referred to specialized care from the very beginning, many respondents first consulted their family doctor when searching for a diagnosis and did not attend a specialist until a later stage. Even in the further course of treatment, not only specialists, but also primary care doctors play an important role due to community care provision. The experiences with doctors outlined by the patients and their families are, however, very heterogeneous.
“I was lucky to be under the care of a very experienced orthopedist from an early stage on (…).” (M04, 39 years, P)
“Yes, I was not amused about it, but also not depressed. Every time I was told that it was not it, we somehow made new attempts to get a diagnosis. I have also been to a lot of so-called experts on muscles.” (M18, 71 years, P)
Many of the participants, who first contacted their general practitioner (GP), feel dissatisfied regarding information provided by their doctor. Many of our interviewees criticized that their doctor gave too little or even no information on their disease. Especially when patients received their diagnosis they complained about too little and barely patient friendly information. Even though patients and their relatives understand that doctors, who do not deal with rare diseases on a regular basis, cannot hold information about all rare diseases, they would wish for more transparent dealing with that lack of knowledge.
“I have to say that, when it comes all doctors, (…) you cannot expect anything else from them, they did not identify it, do not know this disease, that is to say, if you go there, here, my hemogram is not in order, standard things get asked (…). A good doctor can recognize that a level is out of the norm, but that was of course also a little stupid, sort of, that he did not think to look into the other direction too.” (M34, 48 years, P)
“Yes, and there I was the one time, err, with my telephone and thought, yes, maybe the doctor will say something about it, but no, it was done for her! She had the diagnosis and it was over. I am supposed to look for someone, who mhm, yes look for a doctor.” (F28, 47 years, P)
Nevertheless, other patients reported high satisfaction with information transmission from family doctors. In many cases, this contentedness resulted less from an immediate and comprehensive offer of information on the GPs’ part, but more from the commitment to learn more about their patients’ conditions and go in search themselves. From the interviews, it was found that GPs often became trusted informants, near to their homes, who played an important role in patient’s health care provision.
For almost all interviewees involved in specialized care, such as at centers for rare diseases or university hospitals, the doctors working in these institutions are an important information source regarding medical issues. Besides patient organizations, specialists were often described as key informants on disease specific information. Many of our interview partners reported very high information quality and valued the fact that specialized carers are available for all kind of questions. The currency of the information was furthermore praised. Because of their proximity to research efforts and other experts, specialists have up-to-date knowledge that they pass on to their patients, which is highly respected. One interviewee, however, complained that he would have to claim specialists’ information instead of doctors transmitting their knowledge by themselves.
“For me, it is enough to have the feedback from the very knowledgeable skin clinic.” (F01, 23 years, P)
“Professor PERSON always tried to share his knowledge and his research with his patients.” (F40, 48 years, P)
Of particular importance is also the fact that patients and their families normally have fixed individual contacts in the centers for rare diseases, who are entirely familiar with their disease history and symptoms. In this context, people also positively highlighted not needing to repeatedly explain their condition, which was felt as a relief. Some people also discussed longstanding and trusting physician-patient relationships arising from that. From the interviews, it became clear that patients and their families also see specialists and centers for rare diseases as a (good) complement to the range of information offered from their patient’s association. While those hold relevant and most trusted information on most issues beside medical issues, specialists are especially important regarding detailed aspects concerning therapy, diagnosis, etc.
Printed information – high quality, but not up to date information and sparsely used
Even though many of the patients and their relatives in our interview sample received information to a large extent from the internet or personal contacts, others, however, reported the wish for printed information. On the one hand, this is because people appreciated the possibility of holding something in their hands, where they can look things up again, when they feel like it. This was especially emphasized at earlier stages of disease progression.
“(…) I would rather need it in writing, to refer back to again.” (F31, 36 years, P)
Shortly after diagnosis, for example, information brochures are perceived as helpful sources, since they provide comprehensive and often comprehensible information. Moreover, people reported that brochures are well suited for bringing them on the day of doctors’ appointments to give them a review of their disease. At later stages, however, brochures do not cover people’s needs for more specific and detailed information.
“Well I also (…) got the booklet, how do I deal with it myself and where can I get help from. Very good information, yes.” (F43, 18 years, P)
“Here you go. My husband has brought me informative literature, because I knew that he (doctor) did not know it. I pushed it into his hands and told him to read about it.” (F31, 36 years, P)
Some of the interviewees found it helpful to read magazines offered by patients’ associations. Additionally, for those who did not actively participate in regional meetings or did not look for personal exchange, this type of information provision was important. In this connection, patients especially highlighted experience reports from other affected patients and families as valuable information.
“The most important source of information was simply/ the newspaper of Glandula. Publicly displaying the personal experience reports that people wrote there, the stories of what they have been through, when they got diagnosed. That is what I realized and what I took in.” (M47, 59 years, P)
Additionally, specialist books were used for information gathering, but some of the interviewees put them aside, discouraged by the medical terminology. Especially in the time shortly after diagnosis, they exceeded the capabilities of patients and relatives. People also complained that books would often not be up to date, a fact that can be important when considering that specialist books often refer to medical issues such as therapeutic options, which could be subject to frequent amendment.
“(…) and that is anyway the medical terminology and how can you as a layman go and change it for yourself, or read it, it will not do, it does not work.” (F17, 47 years, P)
“As mentioned before, books, they definitely are not; they definitely do not have the latest insights.” (M55, 74 years, P)