Professor Sandy Tubeuf from UCL is conducting an 'investigation on diagnostic errancy in rare diseases in Belgium'.
Fondation 101 Génomes fully supports this research. It hopes that its findings will help to identify solutions to reduce the duration of the dreaded diagnosis wandering.
In concrete terms, Ludivine participated in the creation of the questionnaire and Romain agreed to tell Aurélien's story to the television channel BX1 to promote it.
This was an opportunity to remind people that, although rare diseases affect a small percentage of the population, they mostly affect young children, which means that it is not just one person but their parents, siblings and grandparents who are affected. Taking these 'externalities' into account, rare diseases affect the lives of many people in Belgium:
You can participate via the following links:
- If you are a parent of a child with a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_0jsuIKCZfouNpBk
- If you have a rare disease yourself: https://uclouvainph.qualtrics.com/jfe/form/SV_3q2A35LEks4cbD8
Professor Tubeauf's study has been widely covered in the media. Only the article available on the BX1 website at the following address will be reported here: https://bx1.be/categories/news/une-chercheuse-lance-une-enquete-pour-mieux-comprendre-les-maladies-rares/?fbclid=IwAR21KsQWlz1xJgJOa1I5hsYrywUfmWzND7oipMj2iRs7LApFtlt67BRA31c
Also reproduced below:
« Researcher launches survey to better understand rare diseases
6 to 8% of Belgians are affected by these little-known diseases.
Sciensano and the Institute for Rare Diseases report 6,000 to 8,000 rare diseases in Belgium. However, these diseases and their symptoms are not well known and recognised by most doctors and the general public. A precise diagnosis is often made after a long waiting period, also known as a "wait-and-see" period.diagnostic wandering".. This may take a few weeks or months, but sometimes several years.
Sandy Tubeufa researcher at UCLouvain (Institute for Health and Society Research -IRSS and Institute for Economic and Social Research -IRES), launches a new survey for rare disease patients in Belgium.
An unpublished survey
The objective The aim of this survey is twofold: to understand the care pathway of patients until the diagnosis of the rare disease and to measure the delays in the diagnosis of these diseases as well as their consequences on patients' feelings.
No study has yet been carried out on this issue in Belgium and international studies on associated factors and patients' feelings are rare.
► Any person affected by a rare disease and living in Belgium is invited to respond to the survey (parents or carers can do this for under 18s). This is available in French and Dutch:
- for people with a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_0jsuIKCZfouNpBk
- for parents and carers of a person with a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_3q2A35LEks4cbD8
■ Report by Marie-Noëlle Dinant, Nicolas Scheenaerts And Corinne De Beul »