ArticlePatient related outcome measures2017
The health and life path of rare disease patients: results of the 2015 French barometer.
Article in Patient related outcome measures, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- 'Mapping' Health State Utility Values from Non-preference-Based Measures: A Systematic Literature Review in Rare Diseases.PharmacoEconomics · 2020Pooled it
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- "If I go down, if I crumble, then everybody does" - identity crisis and emotional strain in parents of children with rare and undiagnosed conditions: a qualitative study.Orphanet journal of rare diseases · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- The Importance of Genetic Diagnosis in Rare Diseases.Balkan medical journal · 2025Article
- Automated Shared Phenotype Discovery in Undiagnosed Cohorts for Rare Disease Research.Proceedings of the ... International Conference on Machine Learning and Applications. International Conference on Machine Learning and Applications · 2024Article
- The economic burden of diagnostic uncertainty on rare disease patients.BMC health services research · 2024Article
- Treatment access and satisfaction on disease-modifying therapies of neuromyelitis optica spectrum disorder patients in China: a cross-sectional survey.Therapeutic advances in neurological disorders · 2024Article
- Work participation in adults with rare genetic diseases - a scoping review.BMC public health · 2023Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- Contextual Variables with an Impact on the Educational Inclusion of Students with Rare Diseases.International journal of environmental research and public health · 2022Article
- Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.International journal of environmental research and public health · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Toward representative genomic research: the children's rare disease cohorts experience.Therapeutic advances in rare diseaseArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA barometer has been set up to provide better knowledge about the daily situation of French rare disease (RD) patients, their families and relatives, in order to contribute to the elaboration of improvement measures. This report focuses on the care and life path of RD patients. PATIENTS AND
methodsA preliminary survey was carried out with three patients, five parents and three RD experts to identify the main hurdles and disruptions in the life path of RD patients. It was used to design a larger survey comprising 60 questions as well as open fields allowing free expression. Respondents (448) comprised patients, parents of RD children and close relatives of patients. The Percentage of Maximum Deviation, Yates' correction for continuity and Fisher's test were employed to compare the responses between groups.
resultsLarge disparities in the delays to obtain a diagnosis were identified (<1 year to >20 years), and longer delays were associated with negative perception of care conditions. While good interactions with education teams were reported (59% of respondents), the professional situation of both patients and parents was strongly and negatively impacted by the disease (51% did not work or stopped working). Three hundred respondents expressed various needs and psychological and personal issues were reported by 62% and 75% of respondents, respectively. Interestingly, the medical care path and daily life of RD patients were positively impacted by the follow-up in a specialized consultation, as reflected by changes in scores measured by our barometer (Fisher's test,
conclusionSome of the main hurdles and sources of disruption in the life path of RD patients were identified, as well as some positive outcomes. These data could serve not only as a background for further studies, but also to better adapt the support to real needs and to improve the synergies between the many people involved in the life path of RD patients.
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