Professor Sandy Tubeuf of UCL is leading a ‘survey on diagnostic errance in rare diseases in Belgium’.
The 101 Genomes Foundation provides 100% support for this research. She hopes that her findings will help to identify solutions for reducing the duration of the dreaded diagnosis wandering.
In concrete terms, Ludivine took part in producing the questionnaire and Romain agreed to tell Aurélien’s story to the BX1 television channel to promote it.
This was an opportunity to point out that, although rare diseases affect a small percentage of the population, they mainly affect young children, which means that it’s 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:
[embedyt] https://www.youtube.com/watch?v=vIYoVo7VmUQ[/embedyt]
You can participate via the following links:
- If you are the parent of a child with a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_0jsuIKCZfouNpBk
- If you yourself suffer from a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_3q2A35LEks4cbD8
Professor Tubeauf’s study received extensive media coverage. We report here only the article available on the BX1 website: https://bx1.be/categories/news/une-chercheuse-lance-une-enquete-pour-mieux-comprendre-les-maladies-rares/?fbclid=IwAR21KsQWlz1xJgJOa1I5hsYrywUfmWzND7oipMj2iRs7LApFtlt67BRA31c
Also reproduced below:
“A researcher launches a survey to better understand rare diseases
6 to 8% of Belgians are affected by these little-known diseases.
Sciensano and the Institut des maladies rares report 6,000 to 8,000 rare diseases in Belgium. Yet these illnesses and their symptoms are little-known and little-recognized by most doctors and the general public. A precise diagnosis is often made after a long waiting period, also known as “diagnostic wandering”. This can take a few weeks or months, or even several years.
Sandy Tubeuf, researcher at UCLouvain (Institut de recherche santé et société -IRSS and Institut de recherches économiques et sociales -IRES), launches a new survey of rare disease patients in Belgium.
An unprecedented survey
The objective of this survey is twofold: to understand the patient care pathway up to the diagnosis of a rare disease, and to measure the time taken to diagnose these diseases, as well as their impact on patient feelings.
No studies have yet been carried out on this issue in Belgium, and international studies on the associated factors and patients’ feelings are rare.
► Anyone with a rare disease living in Belgium is invited to take part in the survey (parents or carers can do so for under-18s). It is available in French and Dutch:
- for people with rare diseases: https://uclouvainph.qualtrics.com/jfe/form/SV_0jsuIKCZfouNpBk
- for parents and caregivers of a person with a rare disease: https://uclouvainph.qualtrics.com/jfe/form/SV_3q2A35LEks4cbD8
■ Reported by Marie-Noëlle Dinant, Nicolas Scheenaerts and
Corinne De Beul
”
