1 EURORDIS. “Rare Diseases: understanding this Public Health Priority”. 2005. Available on:https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf.
2 Guillem P, Cans C, Robert-Gnansia E, Aymé S, Jouk PS. Rare diseases in disabled children: an epidemiological survey. Arch Dis Child. 2008;93:115-8.
3 Beaulieu CL. Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, et al. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. American J Hum Genet. 2014; 94:809–817.
4 Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet. 2010; 152a:1136–1156.
5 Dodge JA, Chigladze T, Donadieu J, Grossman Z, Ramos F, Serlicorni A, et al. The importance of rare diseases: from the gene to society. Arch Dis Childh. 2011 96, 791–792.
6 Hiremath G, Kodroff E, Strobel MJ, Scott M, Book W, Reidy C, ... Individuals affected by eosinophilic gastrointestinal disorders have complex unmet needs and frequently experience unique barriers to care. Clin Res Hepatol Gastroenterol. 2018, 42: 483-493.
7 Hollis A, Dart A, Morgan C, Mammen C, Zappitelli M, Chanchlani R, … Delays in diagnosis of nephrotic syndrome in children: A survey study. Paediatr Child Health. 2019, 24: 258-262.
8 Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, … Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016, 11.
9 Zurynski Y, Deverell M, Dalkeith T, Johnson S, Christodoulou J, Leonard H,....... Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis. 2017, 12: 68.
10 Wolin EM, Leyden J, Goldstein G, Kolarova T, Hollander R, Warner RRP. Patient-Reported Experience of Diagnosis, Management, and Burden of Neuroendocrine Tumors: Results From a Large Patient Survey in the United States. Pancreas. 2017, 46: 639-647.
11 Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: how should we respond? Arch Dis Child. 2008;93:1071-4.
12 von der Lippe C1, Diesen PS1, Feragen KB1. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017, 5; 758-773.
13 Baumbusch J, Mayer S, Sloan-Yip I. Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System. J Genet Couns. 2018. doi: 10.1007/s10897-018-0294-9. [Epub ahead of print].
14 Currie G, Szabo J. "It is like a jungle gym, and everything is under construction": The parent's perspective of caring for a child with a rare disease. Child Care Health Dev. 2019;45:96-103.
15 Lopes MT, Koch VH, Sarrubbi-Junior V, Gallo PR, Carneiro-Sampaio M. Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics (Sao Paulo). 2018;73:e68.
16 Salisbury Ch, Wallace M, Montgomery AA. Patients’ experience and satisfaction in primary care: secondary analysis using multilevel modelling. BMJ. 2010;341:c5004.
17 Ahmed F , Burt J, Roland M. Measuring patient experience: concepts and methods. Patient. 2014;7:235– 41.
18 Male L, Noble A, Atkinson J, Marson T. Measuring patient experience: a systematic review to evaluate psychometric properties of patient reported experience measures (PREMs) for emergency care service provision. Inter J Quality Health Care. 2017;29:314–326.
19 Doyle C , Lennox L, Bell D. A systematic review of evidence on the links between patient experience and clinical safety and effectiveness. BMJ Open. 2013;3:e001570.
20 Mira, J J, Nuño-Solinís, R, Guilabert-Mora, M, Solas-Gaspar, O, Fernández-Cano, P, González-Mestre, M A, Contel, J C and del Río-Cámara, M. Development and Validation of an Instrument for Assessing Patient Experience of Chronic Illness Care. Int J Integr Care. 2016; 16:13.
21 Orozco-Beltrán, D., de Toro, J., Galindo, M.J. et al. Patient. Healthcare Experience and their Relationship with Demographic, Disease and Healthcare‑Related Variables: A Cross‑Sectional Survey of Patients with Chronic Diseases Using the IEXPAC Scale. Patient. 2018. https://doi.org/10.1007/s40271-018-0345-1.
22 Guilabert M, Amil P, González-Mestre A, Gil-Sánchez E, Vila A, Carles Contel J, Ansotegui JC, Solas O, Bacigalupe MT, Fernández-Cano P, Arteagoita M, Mira JJ. The Measure of the Family Caregivers’ Experience. Int J Environ Res Public Health. 2018; 15: 2040.
23 von der Lippe Ch, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017; 5;758-773.
24 Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy. 2012; 105:154-164.