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  • CDG Journey Mapping
    • What is the CDG Journey Mapping?
    • Why is it important to understand the CDG patient Journey?
    • How  do we create a CDG Journey Mapping?
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CDG Journey Mapping

When a person seeks medical care for symptoms, the diagnostic journey begins and ends with a correct diagnosis or a regular checkup to receive treatment for an illness or injury. Nowadays, thanks to advances in modern medicine, we could expect that a person can quickly receive a diagnosis and treatment.

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.

RDI life journey

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

solverd infographic

Below you can read the Patient Journey Infographic provided by the National Organisation for Rare Diseases (NORD, USA)

NORD journey

Find more information about the diagnostic journey: 

What is the CDG Journey Mapping?

The study CDG Journey Mapping is the first of its kind, providing the most comprehensive understanding of the entire sequence of events that a patient experiences within a given healthcare system or across providers, from initial signs and symptoms, to receiving a definitive diagnosis,or treatment for an illness or injury.

Why is it important to understand the CDG patient Journey

Our research team has identified a major gap in current CDG knowledge. The  CDG journey is still unknown. We have all heard about family’s experiences and views when questing for a diagnosis and fighting for adequate care for their beloved ones. But there is no systematic study in CDG that captures the various aspects of the CDG family journey in a robust manner.  

What are their concerns, priorities, requirements, needs, and expectations when living with CDG? Which symptoms have the greatest impact on their quality of life? What are the current CDG management and care strategies?  How usually a family deals with the diagnosis? How long does it take to get a definitive diagnosis?

All of these questions, alongside a lot of others, are addressed by developing and refining a structured CDG Journey Mapping. The unveiling of this journey will help us:

  • Collect the main gaps and challenges faced by CDG families, within their journey and define tailored solutions to overcome them<
  • Understand the overall impact that CDG as on the CDG caregiver has on their daily life and consequently, quality of life;
  • Improve our understanding of clinical management techniques and their impact on people living with CDG;
  • Define robust and tailored end points for the upcoming clinical trials;
  • Share the results with regulatory agencies in order to get further support their comprehension on different CDGs types fastening the drug development process;
  • Concentrate on treatments that aim to alleviate the most impactful symptoms as perceived by the families.

If you want to listen other families who have a person living with a rare disease journey to get a diagnosis watch the small video bellow:

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: 

pat journey

Below you can see an example of a journey mapping for Ischemic Heart Disease.

journey map



Two versions of the survey were created to complete the CDG Journey Mapping: one for health/research related stakeholders and another for families, caregivers, and people living with CDG.

Questionnaire Participants

  • A total of 174 participants have answered the survey being the vast majority CDG families (64.4 %);
  • This shows how families are amazing collaborators for research purposes.
  • A total of 35 professionals responded to the survey, with the vast majority (17.1%) being Researchers/Clinicians;
  • This demonstrates a lack of professionals working in CDG or a lack of specialists identifying themselves as experts in the ultra-rare disease.
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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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  • People living with CDG have a wide geographic dispersion.
  • Indeed, this complicates the realization of clinical research, such as clinical trials, because people living with CDG and their caregivers must travel to a study site on a weekly basis (the place where they test a potential therapeutical drug)
  • In accordance with their patients, CDG professionals display quite a geographic dispersion as well;
  • The vast majority who answered the questionnaire are from the United of States of America which is also seen in the recent years in terms of scientif publications and healthrecords.




We stand united as one!


Keep in mind, you are not alone. Though Congenital Disorders of Glycosylation (CDG) are categorized as “rare” there is an amazing community at your fingertips working day and night to improve the lives of many people living with CDG and their family members. We want you to know everything that is available about therapies in lay language, but we suggest you enter into it at your own pace and comfort level.

We are here to help
Should you need more details please do get in touch with our Team

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Pedro Granjo (CDG & Allies, FCT - NOVA University, World CDG Organization and Portuguese Association for CDG), and Vanessa Ferreira (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).


Javier López and Kevin Aguirre (research volunteers at CDG & Allies FCT, NOVA University, Masters students at Universidad Europea).

Content managers and peer reviewers

Marisa Godinho and Ana Verde (collaborators at CDG & Allies FCT, NOVA University). 


The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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Page modified at Friday, November 25, 2022 - 12:54