{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T05:23:07Z","timestamp":1740028987433,"version":"3.37.3"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Young patients can be uniquely vulnerable to the impacts of a rare disease, diagnosed in their critical years of identity formation, social development, and planning for the future. Drawing from my journey as both a rare disease patient and a medical student, this essay explores how the rare disease achalasia has shaped my life, alongside the experiences of another young patient, Isobel. Most importantly, this essay highlights the critical role that individual healthcare professionals play in shaping young patients\u2019 experiences of their condition. Although diagnosing and managing rare diseases can be challenging due to limited research and awareness, my own experiences demonstrate that individual, intentional changes can have profound impacts. By engaging with and believing young patients, individual healthcare providers can reduce misdiagnoses, alleviate isolation and uncertainty, and ultimately, improve healthcare outcomes for young people with rare diseases.<\/jats:p>","DOI":"10.1186\/s13023-025-03571-0","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T23:02:44Z","timestamp":1740006164000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Helping the medicine go down: the role of the healthcare professional in a young person\u2019s experience of achalasia, a rare oesophageal motility disorder"],"prefix":"10.1186","volume":"20","author":[{"given":"Geena","family":"Capps","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"3571_CR1","doi-asserted-by":"crossref","unstructured":"Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current understanding. Am J Gastroenterol. 2005 Jun 1 [cited 2024 Nov 11];100(6):1404\u201314. Available from: https:\/\/pubmed.ncbi.nlm.nih.gov\/15929777\/","DOI":"10.1111\/j.1572-0241.2005.41775.x"},{"key":"3571_CR2","doi-asserted-by":"crossref","unstructured":"Wadhwa V, Thota PN, Parikh MP, Lopez R, Sanaka MR. Changing trends in age, gender, racial distribution, and inpatient burden of achalasia. Gastroenterol Res. 2017 Jan 1 [cited 2024 Nov 11];10(2):70\u20137. Available from: https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5412538\/","DOI":"10.14740\/gr723w"},{"key":"3571_CR3","unstructured":"Faye F, Crocione C, Anido R, Bellagambi S, Pe\u00f1aloza LE, Hunter A et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet. 2024 May 16 [cited 2024 Nov 2]. Available from: https:\/\/www.nature.com\/articles\/s41431-024-01604-z"},{"key":"3571_CR4","doi-asserted-by":"crossref","unstructured":"Nettleton S. I just want permission to be ill: Towards a sociology of medically unexplained symptoms. Soc Sci Med. 2005 Aug 31 [cited 2024 Nov 9];62(5):1167\u201378. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S027795360500403X?via%3Dihub","DOI":"10.1016\/j.socscimed.2005.07.030"},{"key":"3571_CR5","unstructured":"European Organisation for Rare Diseases (EURORDIS). The voice of 12,000 patients: experiences and expectations of rare disease patients on diagnosis and care in Europe: a report based on the EurordisCare3 surveys. Eurodis. 2009 [cited 2024 Nov 11]. Available from: https:\/\/www.eurordis.org\/wp-content\/uploads\/2009\/12\/EURORDISCARE_FULLBOOKr.pdf"},{"key":"3571_CR6","unstructured":"Department of Health and Social Care. The UK rare diseases framework. GOV.UK. 2021 [cited 2024 Nov 11]. Available from: https:\/\/www.gov.uk\/government\/publications\/uk-rare-diseases-framework\/the-uk-rare-diseases-framework"},{"key":"3571_CR7","doi-asserted-by":"publisher","unstructured":"Witt S, Schuett K, Wiegand-Grefe S, Boettcher J, Quitmann J. Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023 Aug 11 [cited 2024 Nov 9];18(1). Available from: https:\/\/link.springer.com\/article\/https:\/\/doi.org\/10.1186\/s13023-023-02837-9","DOI":"10.1186\/s13023-023-02837-9"},{"key":"3571_CR8","unstructured":"Genetic Alliance UK. Rare experience 2020 report: updated May 2021 [Internet]. 2021 [cited 2025 Jan 5]. Available from: https:\/\/geneticalliance.org.uk\/wp-content\/uploads\/2024\/02\/Rare-Experience-2020-Report-updated-May-2021-.pdf"},{"key":"3571_CR9","doi-asserted-by":"publisher","unstructured":"Spencer-Tansley R, Meade N, Ali F, Simpson A, Hunter A. Mental health care for rare disease in the UK\u2013 recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Serv Res. 2022 May 14 [cited 2024 Nov 11];22(1). Available from: https:\/\/bmchealthservres.biomedcentral.com\/articles\/https:\/\/doi.org\/10.1186\/s12913-022-08060-9","DOI":"10.1186\/s12913-022-08060-9"},{"key":"3571_CR10","doi-asserted-by":"crossref","unstructured":"Suja Somanadhan, O\u2019Donnell R, Bracken S, McNulty S, Sweeney A, O\u2019Toole D et al. Children and young people\u2019s experiences of living with rare diseases: An integrative review. Journal of Pediatric Nursing [Internet]. 2022 Nov 25 [cited 2024 Nov 9];68:e16\u201326. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0882596322002676","DOI":"10.1016\/j.pedn.2022.10.014"},{"key":"3571_CR11","doi-asserted-by":"crossref","unstructured":"Delisle VC, Gumuchian ST, Rice DB, Levis AW, Kloda LA, K\u00f6rner A et al. Perceived benefits and factors that influence the ability to establish and maintain patient support groups in rare diseases: a scoping review. Patient [Internet]. 2016 Dec 21 [cited 2024 Nov 11];10(3):283\u201393. Available from: https:\/\/link.springer.com\/article\/10.1007\/s40271-016-0213-9#Sec11","DOI":"10.1007\/s40271-016-0213-9"},{"key":"3571_CR12","unstructured":"Genetic Alliance UK. The rare reality\u2013 an insight into the patient and family experience of rare disease [Internet]. 2016 Jan. 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