Table 2 Anchor examples of “participation during the decision-making process”

Physicians’ commitment

“Yes, […] I think that is the interesting part of the issue. Basically, the point is, they do not take into account this hypothesis. Simply, they always think about the obvious, at present, or what that could be. And basically, ‘It is not even a complex disease, and […] not even complicated to diagnose,’ [and they think,] ‘Oh, I can also add something about the diagnosis later on.’ But, one also needs to come up with it first. And there is the statement of the physician, whom I told that I suspected I have achalasia, and who then said, ‘Oh, that’s so rare; that’s not what you have for sure.’ They do not search for this.” (Patient, female, P56)

“[...] And somehow, one has a contact person, and I have the feeling, and the neurologist says, ‘It is good that you take Valacliclovir, and I can also prescribe you physiotherapy. There is nothing more I can do.’ And there is this [feeling that] I would like to do more.” (Patient, female, P14)

Patients’ commitment

“So, in the run-up, a catastrophe [occurs] because one really has nobody [without a] diagnosis, [and it is] extremely difficult to somehow find the right doctor. Actually, there is, or there was at that point, as we started searching, […] no such centers for rare diseases that were developed during the last few years. And therefore, I should say, one naturally depends on the pediatrician in the first line, and one has to simply, that’s what we felt, have luck to get to the right physician.” (Family member, male, A06)

“[…] Shingles, send a picture, then you know what it is. But when it’s something rare: no chance. But, you need to talk to the patient, you need anamnesis data.” (EP04)