{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:47Z","timestamp":1791828587922,"version":"4.3.4"},"reference-count":32,"publisher":"The Journal of Health Economics and Outcomes Research","issue":"1","license":[{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["jheor.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Background<\/jats:title>\n Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder that can lead to renal and hepatic complications, brain damage, and death. There is a lack of qualitative research describing the impact of GSDIa on individuals and their caregivers.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n This study was designed to describe the individual experiences of those affected by GSDIa through qualitative methods.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Individuals with GSDIa and caregivers were recruited through two patient associations (US, UK). Participants were asked to write narratives about their experiences with GSDIa in their own words, with no set questions or topics. The resulting narrative accounts were analyzed thematically using a primarily inductive approach. Themes describing the impact of GSDIa on individuals and caregivers were identified.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Eight caregivers, three of whom had lost a child to GSDIa, and 11 individuals living with GSDIa provided written summaries of their experiences of life with the condition. Participants described symptoms, the burden of managing frequent cornstarch feeds, and the broader impacts of GSDIa. These included effects on daily activities, family, emotional and social functioning, romantic relationships, and educational\/professional impacts. Participants also described challenges related to obtaining diagnosis and support, and the lack of GSDIa knowledge from healthcare professionals.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n This study provided novel insights into the impact of GSDIa on individuals living with the condition and their caregivers. Participants reported a wide range of issues in their narratives and openly shared sensitive information about their experiences, which may not have been captured if they had taken part in a semi-structured interview format.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n The narrative method yielded a rich data set that provided details of the varied and individual experiences of GSDIa not captured by traditional quantitative methods or structured interviews. The narratives highlighted the unmet needs of both caregivers of and patients with GSDIa around cornstarch management, obstacles to proper treatment from healthcare professionals, and the absence of effective treatments. The open-ended narrative approach had advantages over standard qualitative methods to capture greater insight into individual experiences directly from participants in their own words.<\/jats:p>\n <\/jats:sec>","DOI":"10.36469\/001c.131811","type":"journal-article","created":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T23:53:45Z","timestamp":1743724425000},"update-policy":"https:\/\/doi.org\/10.36469\/00001","source":"Crossref","is-referenced-by-count":5,"title":["People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers"],"prefix":"10.36469","volume":"12","author":[{"given":"Eliza","family":"Kruger","sequence":"first","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley M.","family":"de Freitas","sequence":"additional","affiliation":[{"name":"Acaster Lloyd Consulting Ltd, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Ferrecchia","sequence":"additional","affiliation":[{"name":"University of Connecticut, Farmington, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Millie","family":"Gaydon","sequence":"additional","affiliation":[{"name":"Acaster Lloyd Consulting Ltd, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Acaster Lloyd Consulting Ltd, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"22273","published-online":{"date-parts":[[2025,4,3]]},"reference":[{"issue":"11","key":"ref1","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1038\/gim.2014.128","article-title":"Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics","volume":"16","author":"P. S. Kishnani","year":"2014","journal-title":"Genet Med"},{"key":"ref2","article-title":"GSDIa patient advocacy: patient and caregiver summary and recommendations","author":"Ultragenyx","year":"2019"},{"issue":"7","key":"ref3","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1093\/jpepsy\/jsn017","article-title":"Psychosocial functioning in youth with glycogen storage disease type I","volume":"33","author":"E. Storch","year":"2008","journal-title":"J Pediatr Psychol"},{"key":"ref4","article-title":"Guidance for Industry Patient-Reported Outcome Measures: Use in Medical Product Development to Support Labeling Claims","author":"US Food and Drug Administration","year":"2009"},{"issue":"6","key":"ref5","doi-asserted-by":"publisher","first-page":"1597","DOI":"10.1007\/s11136-021-03003-z","article-title":"Perceived benefits and limitations of using patient-reported outcome measures in clinical practice with individual patients: a systematic review of qualitative studies","volume":"31","author":"R. Campbell","year":"2022","journal-title":"Qual Life Res"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"20","DOI":"10.4103\/ijpvm.IJPVM_321_19","article-title":"Qualitative methods in health care research","volume":"12","author":"V. Renjith","year":"2021","journal-title":"Int J Prev Med"},{"issue":"2","key":"ref7","doi-asserted-by":"crossref","first-page":"e000057","DOI":"10.1136\/fmch-2018-000057","article-title":"Semistructured interviewing in primary care research: a balance of relationship and rigour","volume":"7","author":"M. DeJonckheere","year":"2019","journal-title":"Fam Med Community Health"},{"key":"ref8","article-title":"Narrative Analysis","volume":"3","author":"C. K. Riessman","year":"1993"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4324\/9781003240143-1","article-title":"Engaging in Narrative Inquiry","author":"D. J. Clandinin","year":"2022"},{"issue":"2","key":"ref10","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.critrevonc.2003.04.006","article-title":"Narrative research: a review of methodology and relevance to clinical practice","volume":"48","author":"J. A. Overcash","year":"2003","journal-title":"Crit Rev Oncol Hematol"},{"issue":"4","key":"ref11","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1097\/MCO.0000000000000181","article-title":"Hepatic glycogen storage disorders: what have we learned in recent years?","volume":"18","author":"P. Burda","year":"2015","journal-title":"Curr Opin Clin Nutr Metab Care"},{"issue":"11","key":"ref12","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1136\/bjophthalmol-2018-313089","article-title":"Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy","volume":"103","author":"A. Lloyd","year":"2019","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"ref13","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1007\/s12325-019-01193-0","article-title":"Exploring the burden of X-linked hypophosphataemia: an opportunistic qualitative study of patient statements generated during a technology appraisal","volume":"37","author":"N. Ferizovi\u0107","year":"2020","journal-title":"Adv Ther"},{"key":"ref14","series-title":"APA Handbook Of Research Methods In Psychology. Research Designs: Quantitative, Qualitative, Neuropsychological, and Biological","first-page":"57","article-title":"Thematic analysis","author":"V. Braun","year":"2012"},{"key":"ref15","article-title":"MAXQDA 2022","author":"VERBI Software","year":"2022"},{"key":"ref16","article-title":"Word Cloud Generator"},{"key":"ref17","article-title":"Glycogen Storage Disease Type 1 Caregivers to Pediatric Patients: FDA-Requested Listening Session Summary of Discussion by Question","year":"2021"},{"key":"ref18","first-page":"23","article-title":"disordered eating and body esteem among individuals with glycogen storage disease","volume":"19","author":"T. B. Flanagan","year":"2015","journal-title":"JIMD Rep"},{"key":"ref19","article-title":"Glycogen Storage Disease Type 1 Adults: FDA-Requested Listening Session Summary of Discussion by Question","year":"2021"},{"issue":"2","key":"ref20","doi-asserted-by":"crossref","first-page":"2231046","DOI":"10.1080\/24740527.2023.2231046","article-title":"Unacknowledged pain and disenfranchised grief: a narrative analysis of physical and emotional pain in complex MAiD bereavement stories","volume":"7","author":"K. Serota","year":"2023","journal-title":"Can J Pain"},{"issue":"5","key":"ref21","doi-asserted-by":"publisher","first-page":"4125","DOI":"10.3390\/ijerph20054125","article-title":"Living with endometriosis: a narrative analysis of the experiences of Kenyan women","volume":"20","author":"S. Bergen","year":"2023","journal-title":"Int J Environ Res Public Health"},{"key":"ref22","article-title":"Glycogen storage disease type I","author":"Genetics Home Reference","year":"2021"},{"issue":"2","key":"ref23","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1080\/13548506.2013.793372","article-title":"Exploring quality of life in Italian patients with rare disease: a computer-aided content analysis of illness stories","volume":"19","author":"A. Caputo","year":"2014","journal-title":"Psychol Health Med"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"1606878","DOI":"10.3389\/ijph.2024.1606878","article-title":"The support needs of patients requesting medical aid in dying and their relatives: a qualitative study using semi-structured interviews and written narratives","volume":"69","author":"S. Vissers","year":"2024","journal-title":"Int J Public Health"},{"issue":"4","key":"ref25","doi-asserted-by":"publisher","first-page":"e10815","DOI":"10.2196\/10815","article-title":"Patient perspectives on the challenges and responsibilities of living with chronic inflammatory diseases: qualitative study","volume":"10","author":"G. G. Macdonald","year":"2018","journal-title":"J Participat Med"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1186\/s13023-020-1321-0","article-title":"Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia","volume":"15","author":"Y. M. Kim","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"ref27","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.ymgme.2019.02.008","article-title":"Glycemic control and complications in glycogen storage disease type I: results from the Swiss registry","volume":"126","author":"N. Kaiser","year":"2019","journal-title":"Mol Genet Metab"},{"issue":"5","key":"ref28","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1111\/pedi.12540","article-title":"Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control","volume":"18","author":"M. Dambska","year":"2017","journal-title":"Pediatr Diabetes"},{"issue":"11","key":"ref29","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.2215\/CJN.00050109","article-title":"Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition","volume":"4","author":"D. H. J. Martens","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"issue":"suppl 1","key":"ref30","doi-asserted-by":"crossref","first-page":"S112","DOI":"10.1007\/BF02680007","article-title":"Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)","volume":"161","author":"J. Rake","year":"2002","journal-title":"Eur J Pediatr"},{"issue":"1","key":"ref31","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/s10545-012-9490-1","article-title":"Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study","volume":"36","author":"A. Sechi","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"ref32","article-title":"Glycogen Storage Disease A Parent\/Carers\u2019 Guide","author":"T. Gill"}],"container-title":["Journal of Health Economics and Outcomes Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jheor.org\/article\/131811-people-and-families-affected-by-glycogen-storage-disease-type-ia-an-analysis-of-narrative-accounts-written-by-individuals-living-with-gsdia-and-their","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T19:54:18Z","timestamp":1765914858000},"score":1,"resource":{"primary":{"URL":"https:\/\/jheor.org\/article\/131811-people-and-families-affected-by-glycogen-storage-disease-type-ia-an-analysis-of-narrative-accounts-written-by-individuals-living-with-gsdia-and-their"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,3]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.36469\/001c.131811","relation":{},"ISSN":["2327-2236"],"issn-type":[{"value":"2327-2236","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,3]]}}}