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The health and life path of rare disease patients: results of the 2015 French barometer

Authors Heuyer T, Pavan S, Vicard C

Received 24 December 2016

Accepted for publication 22 May 2017

Published 13 September 2017 Volume 2017:8 Pages 97—110

DOI https://doi.org/10.2147/PROM.S131033

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Akshita Wason

Peer reviewer comments 2

Editor who approved publication: Professor Liana Castel

Thomas Heuyer,1 Sonia Pavan,2 Christine Vicard1

1Maladies Rares Info Services, 2SPScienceCom, Paris, France


Purpose: A 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 methods: A 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.
Results: Large 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, p<0.05).
Conclusion: Some 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.

Keywords: rare disease, survey, patients, life path, diagnosis, care

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