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

References

• Council of the European UnionCouncil recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)Off J Eur Union2009151710
   Google Scholar
• EURORDISThe Voice of 12,000 Patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe2009 Available from: http://www.eurordis.org/publication/voice-12000-patientsAccessed December 15, 2016
   Google Scholar
• Maladies Rares Info Services Available from: http://www.maladiesra-resinfo.org/Accessed December 15, 2016 French
   Google Scholar
• Maladies Rares Info Services [homepage]Rapport d’activité 2015 [2015 activity report] Available from: http://www.maladiesraresinfo.org/mris/en-savoir-plus-sur-maladies-rares-info-services/rapport-activite.htmlAccessed December 15, 2016 French
   Google Scholar
• AngelisATordrupDKanavosPSocio-economic burden of rare diseases: a systematic review of cost of illness evidenceHealth Policy2015119796497925661982
   PubMed Web of Science ®Google Scholar
• van WalsemMRHoweEIIversenKFrichJCAndelicNUnmet needs for healthcare and social support services in patients with Huntington’s disease: a cross-sectional population-based studyOrphanet J Rare Dis20151012426411462
   PubMed Web of Science ®Google Scholar
• DwyerAAQuintonRMorinDPitteloudNIdentifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer supportOrphanet J Rare Dis201498324915927
   PubMed Web of Science ®Google Scholar
• SjobergLNilsagardYFredrikssonCLife situation of adults with congenital limb reduction deficiency in SwedenDisabil Rehabil201436181562157124236497
   PubMed Web of Science ®Google Scholar
• VelvinGBathenTRand-HendriksenSGeirdalAOSystematic review of the psychosocial aspects of living with Marfan syndromeClin Genet201587210911624813698
   PubMed Web of Science ®Google Scholar
• ShireRare disease impact report: insights from patients and the medical communityJ Rare Disord2014134
   Google Scholar
• Maladies Rares Info ServicesLes résultats 2011 de l’Observatoire des maladies rares [The 2011 results of the rare diseases barometer] Available from: http://www.maladiesraresinfo.org/assets/pdf/Rapport_Observatoire_MR_2011_web.pdfAccessed December 15, 2016 French
   Google Scholar
• Maladies Rares Info ServicesRésultats et analyses 2012 de l’Observatoire des maladies rares [The 2012 results and analyses of the rare diseases barometer]2012 Available from: http://www.maladiesraresinfo.org/assets/pdf/Rapport_Observatoire_maladies_rares_2012.pdf.2012 Accessed December 15, 2016 French
   Google Scholar
• MolsterCUrwinDDi PietroLSurvey of healthcare experiences of Australian adults living with rare diseasesOrphanet J Rare Dis2016113027012247
   PubMed Web of Science ®Google Scholar
• Alliance maladies raresERRADIAG – L’errance diagnostique dans les maladies rares [ERRADIAG - diagnostic delay in rare diseases]2016 Available from: http://www.alliance-maladies-rares.org/erradiag-enquete-sur-lerrance-diagnostique-dans-les-maladies-rares/Accessed Dec 15, 2016 French
   Google Scholar
• ColombiMDordoniCChiarelliNRitelliMDifferential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type compared to other heritable connective tissue disordersAm J Med Genet C Semin Med Genet2015169C162225821090
   PubMed Web of Science ®Google Scholar
• KnightIThe role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeAm J Med Genet C Semin Med Genet2015169C112312925821096
   PubMed Web of Science ®Google Scholar
• RollKThe influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan syndromeHealth Policy20121052–311912722420917
   PubMed Web of Science ®Google Scholar
• BernardiMPWarrierSLynchACHeriotAGAcute and chronic pseudo-obstruction: a current updateANZ J Surg2015851070971425943300
   PubMed Web of Science ®Google Scholar
• SobeyGEhlers-Danlos syndrome: how to diagnose and when to perform genetic testsArch Dis Child20151001576124994860
   PubMed Web of Science ®Google Scholar
• De PaepeAMalfaitFThe Ehlers-Danlos syndrome, a disorder with many facesClin Genet201282111122353005
   PubMed Web of Science ®Google Scholar
• LOI n 2005-102 du 11 février 2005 pour l’égalité des droits et des chances, la participation et la citoyenneté des personnes handicapées [Law 2005-102 from February 11, 2005 on equal rights and opportunities, participation and citizenship of disabled people]JORF 36 du 12 février 2005 [Official Journal of the French Republic number 36, February 12, 2005] Available from: http://www.legifrance.gouv.fr/affichTexte.do?cidTexte=JORFTEXT000000809647&categorieLien=id.2005Accessed December 15, 2016 French
   Google Scholar
• CampionCLDebréILoi Handicap: des avancées réelles, une application encore insuffisante. Rapport d’information n 635 (2011–2012) fait au nom de la commission pour le contrôle de l’application des lois [Disability Law: real progress still insufficient application. Information report number 635 (2011–2012) written on behalf of the commission for the control of law enforcement]2012 Available from: http://www.senat.fr/rap/r11-635/r11-635_mono.html#toc147Accessed April 6, 2016 French
   Google Scholar
• Ministère des Affaires sociales, de la Santé et des Droits des femmesLes filières de santé maladies rares [French rare diseases healthcare networks]2014 Available from: http://social-sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/article/les-filieres-de-sante-maladies-raresAccessed December 15, 2016 French
   Google Scholar
• HollakCEBiegstraatenMBaumgartnerMRPosition statement on the role of healthcare professionals, patient organizations and industry in European reference networksOrphanet J Rare Dis2016111726809514
   PubMed Web of Science ®Google Scholar
• FrankMEidt-KochDAumannIReimannAWagnerTOFGraf von der SchulenburgJMMaßnahmen zur Verbesserung der gesundheitlichen Situation von Menschen mit seltenen Erkrankungen in Deutschland. Ein Vergleich mit dem Nationalen Aktionsplan [Measures to improve the health situation of patients with rare diseases in Germany. A comparison with the National Action Plan]Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz2014571012161223 German25209683
   PubMed Web of Science ®Google Scholar