{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T18:40:01Z","timestamp":1751222401710,"version":"3.41.0"},"reference-count":44,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T00:00:00Z","timestamp":1521072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of 2 large\u2010scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a 10\u2010year period. Seven stages of the patient journey were examined. From pre\u2010testing, through diagnosis, genetics consultation, clinical follow\u2010up and peer support. Overall, 1158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (<jats:italic>P<\/jats:italic>&lt; .001) over time with a decrease in results reported face to face (76%\u201062%), doubling by telephone (12%\u201022%), improved explanation of chromosome disorder (57%\u201075%), and increased signposting to peer support group (34%\u201062%). However, conduct of the consultation raises a number of important questions. Overall, 28 aspects of the patient journey are recognised as requiring improvement; only 12\/28 are currently incorporated in UK service specifications. Involvement of RCD families has identified key service improvements. This approach can empower those affected by such extremely rare disorders, and also enable professionals to design improved services in partnership with \u201cexpert families.\u201d Further surveys are planned.<\/jats:p>","DOI":"10.1111\/cge.13207","type":"journal-article","created":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T16:03:28Z","timestamp":1515600208000},"page":"972-981","source":"Crossref","is-referenced-by-count":4,"title":["UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003\u20102013)"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6244-9872","authenticated-orcid":false,"given":"A.","family":"Szczepura","sequence":"first","affiliation":[{"name":"Enterprise and Innovation Group Coventry University Coventry UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Wynn","sequence":"additional","affiliation":[{"name":"Unique The Rare Chromosome Disorder Support Group Surrey Oxted UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Searle","sequence":"additional","affiliation":[{"name":"Unique The Rare Chromosome Disorder Support Group Surrey Oxted UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.","family":"Khan","sequence":"additional","affiliation":[{"name":"Centre for Innovative Research Across the Life Course Coventry University Coventry CV1 5FB UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Palmer","sequence":"additional","affiliation":[{"name":"Department of Mathematics &amp; Statistics Lancaster University Lancaster UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Biggerstaff","sequence":"additional","affiliation":[{"name":"Warwick Medical School University of Warwick Coventry UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Elliott","sequence":"additional","affiliation":[{"name":"Centre for Innovative Research Across the Life Course Coventry University Coventry CV1 5FB UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Hult\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,3,15]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Department of Health. 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