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

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          Abstract

          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.

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          The Ehlers-Danlos syndrome, a disorder with many faces.

          Fransiska Malfait, Anne Paepe (2012)
          The Ehlers-Danlos syndromes (EDSs) comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins. Mutations in type V and type III collagen cause classic or vascular EDS respectively, while mutations involving the processing of type I collagen are involved in the kyphoscoliosis, arthrochalasis and dermatosparaxis type of EDS. Establishing the correct EDS subtype has important implications for genetic counseling and management and is supported by specific biochemical and molecular investigations. Over the last years, several new EDS variants have been characterized which call for a refinement of the Villefranche classification. Moreover, the study of these diseases has brought new insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix (ECM) molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion and assembly of ECM proteins. © 2012 John Wiley & Sons A/S.
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            Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

            Marina Colombi, Chiara Dordoni, Nicola Chiarelli … (2015)
            Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.
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              Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support

              Andrew A Dwyer, Richard Quinton, Diane Morin … (2014)
              Background Patients with rare diseases such as congenital hypogonadotropic hypogonadism (CHH) are dispersed, often challenged to find specialized care and face other health disparities. The internet has the potential to reach a wide audience of rare disease patients and can help connect patients and specialists. Therefore, this study aimed to: (i) determine if web-based platforms could be effectively used to conduct an online needs assessment of dispersed CHH patients; (ii) identify the unmet health and informational needs of CHH patients and (iii) assess patient acceptability regarding patient-centered, web-based interventions to bridge shortfalls in care. Methods A sequential mixed-methods design was used: first, an online survey was conducted to evaluate health promoting behavior and identify unmet health and informational needs of CHH men. Subsequently, patient focus groups were held to explore specific patient-identified targets for care and to examine the acceptability of possible online interventions. Descriptive statistics and thematic qualitative analyses were used. Results 105 male participants completed the online survey (mean age 37 ± 11, range 19–66 years) representing a spectrum of patients across a broad socioeconomic range and all but one subject had adequate healthcare literacy. The survey revealed periods of non-adherence to treatment (34/93, 37%) and gaps in healthcare (36/87, 41%) exceeding one year. Patient focus groups identified lasting psychological effects related to feelings of isolation, shame and body-image concerns. Survey respondents were active internet users, nearly all had sought CHH information online (101/105, 96%), and they rated the internet, healthcare providers, and online community as equally important CHH information sources. Focus group participants were overwhelmingly positive regarding online interventions/support with links to reach expert healthcare providers and for peer-to-peer support. Conclusion The web-based needs assessment was an effective way to reach dispersed CHH patients. These individuals often have long gaps in care and struggle with the psychosocial sequelae of CHH. They are highly motivated internet users seeking information and tapping into online communities and are receptive to novel web-based interventions addressing their unmet needs.
              Article 0 comments Cited 38 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Patient Relat Outcome Meas
                Journal ID (iso-abbrev): Patient Relat Outcome Meas
                Journal ID (publisher-id): Patient Related Outcome Measures
                Title: Patient Related Outcome Measures
                Publisher: Dove Medical Press
                ISSN (Electronic): 1179-271X
                Publication date Collection: 2017
                Publication date (Electronic): 13 September 2017
                Volume: 8
                Pages: 97-110
                Affiliations
                [1 ]Maladies Rares Info Services
                [2 ]SPScienceCom, Paris, France
                Author notes
                Correspondence: Thomas Heuyer, Maladies Rares Info Services, 96 Rue Didot, 75014 Paris, France, Tel +33 15 653 8136, Email theuyer@ 123456maladiesraresinfo.org
                Article
                Publisher ID: prom-8-097
                DOI: 10.2147/PROM.S131033
                PMC ID: 5602466
                PubMed ID: 28979171
                SO-VID: e12cdee4-21d6-4a50-8a58-bb19b8ef1c93
                Copyright © © 2017 Heuyer et al. This work is published and licensed by Dove Medical Press Limited
                License:

                The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

                History
                Categories
                Subject: Original Research

                ScienceOpen disciplines: Medicine
                Keywords: rare disease,survey,patients,life path,diagnosis,care
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: rare disease, survey, patients, life path, diagnosis, care

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