No diagnosis
YOU DON’T HAVE A DIAGNOSIS?
Even if your illness (or your child’s) does not have a name or the diagnosis is not yet certain, you can contact our iRARE Centre.
We can explore with you if there are some possible avenues that can be taken to obtain a diagnosis in the health system or through research. It is also possible to register in some international registries where people share their information in the hope of finding someone with a similar disease or a researcher who might be interested in it.
Here is a guide to help you
The Rare Disease Foundation’s guide: Living Without a Diagnosis. Road map and Navigation Tools for Families.
Translated in French by the RQMO: Vivre sans diagnostic. Feuille de route et outils de navigation pour les familles
Resources for the undiagnosed
Diagnostic aid tools
- A tool to try to find your diagnosis: RareLook
- Tools for professionals only:
Associations and support groups
- Syndromes Without a Name (SWAN) UK
- Syndromes Without a Name (SWAN) Australia
- Patients and families of the Undiagnosed Network (United States)
- Discussion forum for people without a diagnosis by “Maladies Rares Info Services” (France)
- RareConnect Forum on undiagnosed diseases (not active anymore, but posts still available)
Publications and media
- Helping without knowing the diagnosis (Support for caregivers)
- Maux mystères TV series in French (Canal Vie).
- Watch the episodes.
- Mystery Diagnosis TV series
- Book: The Genome Odyssey: Medical Mysteries and the Quest to Solve Them
Listen to Caroline’s story about her son, Tommy, without a diagnosis for 14 years!
Listen to conferences on the theme of the “undiagnosed” presented during the RQMO’s Month of Zebruary 2022.
- Kristin Kernohan, Ph.D., from the Canadian Care4Rare project, a pan-Canadian collaborative exomic sequencing project.
- Nicolas Garnier, PhD., on the Screen4Rare project on newborn genetic screening.
Read the article: Les plus orphelines des maladies: les maladies sans nom