Patients with rare tumor syndromes and the medical encounter

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Introduction: Patients with a rare disease experience several challenges in their patient journey. Information seeking can be difficult with little information available and with a variety of phenotypes of the disease. Patients show a high interest in knowing more about perspectives and treating options. Patients with a delayed diagnosis will initially seek information based on symptoms.

Research question: This study examines the role of health literacy on the patient-doctor interaction. It aims to explore the strategies of obtaining information and of creating a context for active participation.

Methods: In-depth semi-structured interviews are conducted with patients or with parents of children suffering of a rare disease. Inclusion criteria are: patients with a diagnoses of a rare tumor syndrome or patients waiting for diagnosis.
In addition a group of healthcare professionals active in the domain of rare diseases have been interviewed. The interviews are analyzed and coded using the constructivist grounded theory method.

Results: Data from the interviews shows that most patients demonstrate an information hunger which sometimes is difficult to fulfill. This ‘need to know’ turns them into an active information seeker who gradually gains confidence to participate in the patients-doctor encounter.
Health literacy and digital literacy seem to develop simultaneously. After all, in rare diseases most sources are digital. Informing oneself starts from a 0-point, patients have usually heard little or nothing about the disease before diagnosis. The learning curve can then be very fast and patients and physicians keep pace in knowledge about the disease and treating options. Drivers of the learning curve are: the need to play an active role in the decision-making process, the intensity of the contacts with doctors and the severity of the symptoms. We see that the learning curve flattens out at times when there is stability in the clinical situation. At moments of stress and uncertainty, it can flare up again.

Conclusions: From this study we can conclude that Information seeking is an important strategy in coping with a rare tumor syndrome. Patients may benefit from support by healthcare professionals in finding relevant information. If the treating doctors plays a role in information seeking, the relationship with the patients will become one based on equity, trust and co-creation. Patients who are supported in their coping and information seeking process, experience more continuity and coherence in their journey.

Implications: In the hospital setting, we suggest to develop instruments and methods, on- and off-line, to support patients in their information needs. Understanding the context of a disease not only benefits compliance to medical treatments but it gives a feeling of control to the patient. As the syndromes are mostly hereditary, incurable and chronical, there is a need for a shift in the medical encounter: the focus ideally shifts from the disease itself to the context and the preferences of the patient. There is a need for a shift from ‘what is the matter with you’ towards ‘what matters to you’.
Original languageEnglish
Title of host publicationHARC 2021 Poster Presentations
Number of pages1
Publication statusPublished - 1 Nov 2021
EventHealth Literacy Annual Research Conference 2021 - held virtually, United States
Duration: 1 Nov 20212 Nov 2021


ConferenceHealth Literacy Annual Research Conference 2021
Abbreviated titleHARC
Country/TerritoryUnited States
Internet address


  • information needs – rare tumors – participation


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