Those families living with rare conditions often spend years or decades seeking a diagnosis. Rare conditions take an average of 6 to 7 years to diagnose.People living with rare diseases may see eight or more doctors and undergo extensive testing before receiving a final diagnosis. Families and providers often get frustrated during long diagnostic journeys. Those living with a rare condition and caregivers may feel alone. Additionally, there are burdens of cost, intensive utilization of resources and many other challenges. Rare Disease International made available the following explanatory video:
This video is also available as a downloadable infographic.
Solve-RD – solving the unsolved rare diseases is a research project funded by the European Commission, aiming to solve large numbers of rare diseases for which a molecular cause is not known yet. Within the Solve-RD project, EURORDIS initiated the Community Engagement Task Force (CETF – a multi-stakeholder community of patients, scientists and clinicians to support the needs of undiagnosed and recently diagnosed patients and leave a legacy of a strengthened undiagnosed community.
The EURORDIS-led CETF has created an infographic setting out the patient journey to diagnosis. The infographic demonstrates the diagnostic odyssey many people experience on a daily basis and presents existing resources from CETF member organisations to support patients on this journey. Learn more here.
Below you can read the Patient Journey Infographic provided by the National Organisation for Rare Diseases (NORD, USA)
Find more information about the diagnostic journey:
- Download Rare disease impact report: Insights from patients and the medical community (2013).
How do we create a CDG Journey Mapping?
Every single interaction with a person is an essential step in the patient journey process and a crucial opportunity for a provider or health system to demonstrate value. It's important to understand people's challenges and preferences so we can make things easier for them.
A comprehensive view of the CDG Journey Mapping is only possible by listening to the community. This is why answering the questionnaires developed and distributed by the CDG & Allies team or any other group leading research is critical. Thanks to the whole CDG community, it is possible to build a CDG Journey Mapping.´
Actually, there are many ways to understand and represent the priorities, needs and preferences of a rare disease patient community. EURODIS and the rare disease patient community co-developed a guide to support patient associations to understand how to best capture and act on the insights of your rare disease patient community, ultimately ensuring that their voice and lived experience are at the heart of what your patient organisation does.
The guide is found below and is structured into 8 steps which range from defining your objectives, to selecting the best approach to collect the data you need and analysing your community’s feedback. It is full of practical tips and complementary resources designed to make your life easier!
Speak Up. Listen Up. Follow UP.pdf
When creating your patient journey map, there are a few things to keep in mind.
Patient Personas or Patient Profile
To be able to craft the best possible patient experience, you first need to know the different types of patients across your patient community. You want to figure out:
- What are their most relevant needs?
- What are their communication and care preferences?
- How do they want to engage with their doctors?
- What information do you already know about them?
Across rare diseases, there is a lot of clinical heterogeneity. Thus, depending on the disease, we might have different patient personas.
Patient Goals
Find out what people want to accomplish by the end of their patient journey by gathering information about their goals. Knowing the patient's objective enables you to confirm the actions required to reach it.
Stages of the Patient Journey
These are the actions a patient takes to get closer to their objective. All touchpoints should be taken into account.
A focal point for your patient journey might be, for instance, the fact that your practice is located in a neighborhood with little parking. Pre-visit instructions that assist patients in finding parking may be useful to remove this inconvenience from the patient journey.
To better understand all the steps and how they relate to one another, put the stages into a flow chart.
Pain areas for people living with a certain condition
Determine any potential pain points that patient might have during the journey as it is now with the aid of the data you gathered in the previous step. Determine how to eliminate those pain points.
It might entail bringing in new personnel, materials, or tools to get rid of those obstacles.
When created properly, your patient journey map makes it simple to pinpoint problems, unearth opportunities, and rethink patient engagement tactics throughout your practice.
A more tailored and engaging content will result from a smooth patient experience.
The National Health Council (USA) has made available the Patient Experience Mapping Toolbox, a set of publicly available resources to help researchers engage and document patients’ experiences before getting a diagnosis, while getting a diagnosis, and living with a diagnosis.The Toolbox includes project planning and data collection tools. All patient-facing tools were reviewed externally by health literacy experts and refined through patient interviews. To encourage uptake, the Toolbox is made available free for public use. Check more here.
Naevus Global has created a patient journey with goals and challenges for their community:
Below you can see an example of a journey mapping for Ischemic Heart Disease.
Questionnaire Participants
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- In terms of CDGs there was a total of 31 different types with a majority of the participants related to people who live with PMM2-CDG (51.15 %), which is expected since the most predominant CDG type worldwide.
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We stand united as one!