Diagnostic journey and Care Experiences of Persons living with Rare Diseases in Sweden

Diagnostic journey and Care Experiences of Persons living with Rare Diseases in Sweden | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Diagnostic journey and Care Experiences of Persons living with Rare Diseases in Sweden Maria Johansson Soller, Jamie Linnea Luckhaus, Stephanie Juran, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9378200/v1 This work is licensed under a CC BY 4.0 License Status: Under Revision Version 1 posted 9 You are reading this latest preprint version Abstract In Sweden, it is estimated that around half a million people live with a rare disease, and many more are affected through a family member. Despite this, little is known about patients’ experiences of the diagnostic journey, healthcare needs, and trust in the healthcare system. This study aims to explore patients’ attitudes towards what is offered within Swedish healthcare. An online cross-sectional survey was completed in 2021 by members of Rare Diseases Sweden. In total, 942 respondents representing 120 different diagnoses participated. Over half live with a rare disease, while the remaining respondents are caregivers. Slightly more than one third of the conditions involve intellectual disability, and one in five include motor impairment. Almost half involve complex healthcare needs. Disease onset occurred at birth or the newborn stage in 23% of cases, during toddler age in 13%, and in adulthood in 4%, while for 60% the age of onset varies. Most respondents were diagnosed as adults (44.4%), followed by childhood (27.9%) and at birth (16.7%). Seven out of ten have consulted an expert in their condition. More than one third were diagnosed within six months of first healthcare contact, and nearly half within one year, while one in ten waited over ten years. Those with diagnostic delays exceeding ten years were less likely to see a specialist, had unmet healthcare needs, and reported lower trust in healthcare professionals and the system. The study provides valuable insight into the diagnostic journey and healthcare experiences of individuals with rare diseases and their next of kin. Rare disease diagnostic journey health care needs healthcare access healthcare satisfaction perception of care Figures Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Introduction In Europe, including Sweden, a rare disease (RD) is defined as a disease affecting fewer than 1 in 2000 individuals in a population (EURORDIS-Rare Diseases Europe). However, RDs collectively affect as many as ,3.5–5.9%, due to the large number of specific RDs. Currently there are at least 6000–8000 described RDs. It is estimated that approximately 500 000 individuals in Sweden, and hundreds of millions worldwide are affected, and up to 80% are believed to have a genetic origin (Ferreira 2019; Smith, et al. 2022). The phenotypes can range from mild symptoms in a single organ, for example eyes, to syndromes affecting multiple organs, with severe neurological symptoms like intellectual disabilities. Many RDs manifest in childhood, but some later in life; they can be life-long, impact quality of life, and may lead to a shorter life span (Nguengang Wakap et al. 2020). Living with an RD or having a child with a rare condition not only affects the physical health of the affected individual but also often comes with psychosocial or even mental health issues due to lifelong circumstances ( www.rareminds.org ). The affected individual as well as parents often need to have the role of an expert, coordinator, and advocate (Bauskis et al 2022). The etiology of a RD can be diverse, including events in pregnancy, physical injury, or environmental factors, though the majority—as many as 72–80% of the RDs—are of genetic cause (Nguengang Wakap et al. 2020; Marwaha et al. 2022). A molecular diagnosis can help in understanding the underlying cause and assess prognosis and familial risk. Also, it may help in planning proper surveillance or enable targeted treatment. The time between disease onset and molecular diagnosis can be long, sometimes referred to as “the diagnostic odyssey” (Bauskis et al. 2022; Tesi et al. 2023). Delays might be caused by factors such as not being referred for genetic testing, inappropriate testing, or because of testing was performed at a time that current available testing lacked the sensitivity or resolution needed to detect the underlying genetic cause. Diagnostic yields for rare diseases range from 20% to 50%, depending on inclusion criteria (defined symptoms) for the referral for genetic testing. Even with modern comprehensive approaches such as whole-genome sequencing (WGS), more than 60% of cases might remain genetically undiagnosed (reviewed in Tesi et al. 2023). Therefore, many patients only have a diagnosis based purely on their clinical symptoms. The average time for diagnosis is also long (Bauskis et al. 2022; Reed et al. 2024), although modern sequencing technologies have improved the protracted diagnostic journey. In terms of the structure of Swedish healthcare, it is primarily tax-funded​. Sweden has about 44 000 physicians, including around 7 000 general practitioners (GPs) that work in primary care, but only approximately 100 clinical geneticists. General medicine is responsible for managing a wide range of cases in Sweden, including infections, minor injuries, asthma, type 2 diabetes, hypertension, heart failure, depression, chronic pain, maternity care, and pediatric care. The healthcare system is structured so that a patient’s first point of contact is typically their GP, who then refers them to a specialist when necessary (1177.se, Vårdgaranti). Many individuals with RD report challenges in availability to a GP as their disease is often considered too complicated for primary care, even when they might have only more common infections or symptoms not related to their specific rare conditions, and which are otherwise generally treated by a GP (1177.se, Vårdgaranti). Also, many of them have experienced a lack of referrals to specialist care, and many times they themselves need to coordinate their healthcare contacts, ( www.sallsyntadiagnoser.se ; Briscoe, Pintada et al. 2025; Hemmesch, et al. 2025). Often, there is also a lack of experts on the specific rare condition (expert is here defined as a HC professional with satisfactory knowledge about the RDs, their treatment and follow-up) (Hemmesch et al. 2025). Our study aims to deepen the knowledge about the RD diagnostic journey and explore the healthcare needs and trust in healthcare among people living with a RD (PLWRD) and their next of kin based on a survey distributed by Rare Disease Sweden to their members. We also aim to identify the gaps and discuss their experiences in relation to what is offered in Swedish healthcare. Methods The study is reported in accordance with the STROBE checklist for cross-sectional studies (see Appendix 1). Study Design and Setting We analyzed the responses to an online survey carried out by Rare Diseases Sweden ( sallsyntadiagnoser.se ), which consisted of 105 items: single-choice, multiple-choice, likert scale, and free-text items. The estimated time to fill in the survey was 60 minutes, depending on how many free-text questions participants chose to answer. None of the items were mandatory, and some questions appeared conditionally based on the respondent’s previous response. The survey was designed in Swedish by Rare Diseases Sweden in collaboration with the Center for Rare Diagnoses at Karolinska University hospital, LIF—The Research-based Pharmaceutical Industry in Sweden, the Swedish Agency for Health Technology and Assessment of Social Services (SBU), the Dental and Pharmaceutical benefits agency (TLV), and Sweden’s three specialized dental care centers of rare conditions, the National Board of Health and Welfare (Socialstyrelsen), and the Swedish Agency for Health and Care Services (Vårdanalys). The original survey can be found in Appendix 2. The survey was open for one month (November 29th, 2021 - December 22nd, 2021) and shared with the 8,594 members of Rare Diseases Sweden who had provided contact information. Members with a rare disease diagnosis themselves and/or next of kin to someone with a rare diagnosis were invited to complete the survey. Respondents under 16 were required to complete the survey together with an adult. The survey was distributed digitally using a commercial survey company (Stoswe.se), who sent out a unique survey link to each participant via e-mail or SMS, depending on contact details provided by participants. Participants who did not complete the study received up to two reminders also by e-mail or SMS. This resulted in 1 481 responses, which gave a response rate of 17.3%. Responses were anonymous, so we have not confirmed their diagnosis with their patient records. Inclusion Criteria Respondents could select from 128 different RDs, write in (free-text) or choose "prefer not to specify.” To achieve our sample, we excluded anyone who did not specify which RD diagnosis ( n = 231) because we wanted to deepen the analysis by taking the nature of the diagnoses into account. We also excluded individuals with Ehlers-Danlos Syndrome ( n = 310), as they were the focus of a separate paper (Luckhaus et al, 2025). Any written-in responses of the diagnoses were manually sorted by a clinician (MJS). This resulted in a total sample of 942 patients (see Table 1 ). Table 1 Sample compared to initial survey sample. Original sample size Total sample 1 483 Specified RD Yes, reported Ehlers-Danlos Syndrome (EDS/HDS) -310 No, did not specify -231 Yes, reported diagnosis other than EDS/HDS 942 (our sample) Note : For exact wording of the survey items, refer to Appendix 2 and 3. The excluded group Those who did not specify their diagnosis ( n = 230) were excluded from the analysis, since we could not group them (e.g. motor impairment or not) based on their disease as they had not stated a diagnosis in the survey. Of these excluded respondents, nearly half (47.6%, 108/227) were unsure as to whether they have a clinical diagnosis and whether it is reported in their EHR, and nearly a third (33.9%, 77/227) responded that they do not have a clinical diagnosis. Out of the 230 who did not specify their diagnosis, 34 individuals (14.8%) reported that they were diagnosed via genetic testing. Note that all survey respondents were members of Rare Diseases Sweden . Analysis We used 26 questions from Rare Diseases Sweden ’s member survey from 2021 (see Fig. 1 ). Analysis consisted of descriptives (count, percentage) summarized through frequency tables and in-text descriptions, and statistical association testing, described in more detail below. On survey items that had missing responses, calculations were performed on available data only. Where “I don’t know” or “Not relevant” were possible answer options, these were not treated as missing data but were instead reported. Likert items were dichotomized where applicable i.e. combining “high” and “very high.” A Clinical Geneticist (MJS) labelled respondents according to the diagnosis provided as having the following yes/no/in some cases: motor impairment, intellectual disability, a complex syndrome (defined as a condition impacting more than three organ systems), and a known genetic cause using several resources like Orphanet.org , OMIM.org and pubmed.ncbi.nlm.nih.gov (Date 241101). Respondents were also labelled according to the usual age of onset. The clinician-defined variables motor impairment , intellectual disability , and complex syndrome as well as the respondent-reported variables proportion of care within primary care and length of diagnosis journey were pre-selected by all authors as grouping variables to form a basis of the comparative analysis. Associations between these participant group characteristics and four outcome variables — trust in healthcare providers (HCPs), trust in primary care (PC), trust in the healthcare system (HC), and perceived extent to which care needs were met — were examined using chi-square tests of independence by JLL. For each grouping variable × outcome combination, contingency tables were produced and Pearson’s chi-square statistic (χ²), degrees of freedom (df), sample size (N), and effect size (Cramér’s V) were reported. Effect sizes were interpreted according to Cohen’s guidelines (small ≈ .10, medium ≈ .30, large ≈ .50). To explore the nature of significant associations, standardized residuals were examined for each cell. Standardized residuals ≥ |2| were interpreted as indicating a meaningful deviation from the expected frequency under the null hypothesis, with positive values representing overrepresentation and negative values representing underrepresentation. Given the large number of comparisons (8 grouping variables × 4 outcome variables), p-values from the chi-square tests were adjusted for multiple testing using the Benjamini–Hochberg false discovery rate (FDR) procedure. Both unadjusted and FDR-adjusted p-values are reported, with statistical significance set at α = .05 (two-tailed). Analyses were conducted in JASP (version 0.19.1) under the Contingency Tables module. Compliance with Ethics Guidelines Scientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01-435533). The survey responses were anonymous. All procedures followed were in accordance with the ethical standards of the responsiblecommittee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. Results Survey results were translated and described below. As the questions were skippable, the number of respondents varied from question to question, and the respondents ( n ) are presented in a table or else in text (xx/xx). Characteristics, n = 942 Just over half 56% (528/940) reported living with a RD, and 55% (517/940) answered the survey for themselves (see Table 2 ). Just under half (44.4%, 417/940) were next of kin responding on behalf of a person living with an RD (PLWRD). 12.4% (116/940) were both PLWRD and next of kin to a PLWRD. A surplus of respondents were women (58.8%). The vast majority (96.1%) were born in Sweden and a third were 55 or older (33.3%). Over a third (38.64%) were employed; a quarter (25%) were in school, and 14.9 were unemployed. Table 2 Sociodemographic characteristics. Respondent type ( n = 940) Count % Patient answering for self 410 43.6 Patient and caregiver, answering for self 107 11.4 Caregiver answering for loved one 408 43.4 Patient and caregiver answering for loved one 9 1 Gender ( n = 942) Woman 554 58.8 Man 367 39 Other 1 6 0.6 Don’t want to specify / Missing 15 1.5 Age ( n = 940) 6 years or younger 46 5 7–11 years 77 8.2 12–18 years 79 8.4 19–24 years 58 6.2 25–34 years 115 12.2 35–44 years 106 11.3 45–54 years 126 13.4 55–64 years 149 15.9 65–74 years 114 12.1 75 years or older 50 5.3 Country of birth ( n = 936) Sweden 899 96.1 Northern Europe (not Sweden) 12 1.3 Europe (not Northern) 14 1.5 Global (not Europe) 11 1.2 Highest level of education ( n = 937) Currently in pre-/primary school 107 11.4 Primary school 69 7.4 Special education, Primary school 45 4.8 Secondary education/High school 228 24.3 Special education, Secondary/High school 83 8.9 Higher education/University/College 322 34.4 Other 76 7.6 Employment status ( n = 779) Employed 301 38.7 Unemployed 116 15 In pre-school 31 4 In school 195 25 Other education 15 1.9 Don’t know or Prefer not to specify 18 2.3 Geographical distribution corresponded with the country’s population density and with the distribution of members in Rare Diseases Sweden , with nearly a quarter in Stockholm region (24.8%, 234/941) followed by 16.5% in Western Götaland (155/941), and 10.4% in Scania (Skåne) (98/941). Over a third (298/834, 35.7%) rated their health as 4 or below on a scale of 1–10 with lower being poorer, while the majority rated it as 5 or above (536/834, 64.3%). As for the extremes, 2.8% (23/834) reported their health as “poor” and 8.4% (70/834) rated their health as “excellent.” Clinician-based (MJS) grouping based on the participants stated diagnosis: 1. Motor impairment ( n = 185): Only a small portion (19.7%, 185/938) have a diagnosis that commonly or always results in motor impairment. 2. Intellectual disability ( n = 306): About a third of diseases commonly or always result in intellectual disability (32.6%, 306/940). 3. Complex syndrome ( n = 448): Classification based on diagnosis impacting more than three organ systems (47.7%, 448/939). However, participants also self-reported whether or not their RD impacted more than one organ system (65.7%, 616/935). Respondent-based grouping: These additional grouping were based on respondents reporting: 4. Especially short diagnostic journey (Time to diagnosis < 6 months) ( n = 344) 5. Especially long diagnostic journey (Time to diagnosis < 10 years) ( n = 101) 6. Large proportion of care with primary care (More than half) ( n = 204) 7. Small proportion of care in primary care (Less than half) ( n = 326) 8. Had contact with an expert in their RD ( n = 666) These groupings were used for analysis of proportion of care within primary care, whether care needs are met, and trust for healthcare, HCPs, and primary care professionals, see below. Diagnosis journey Most (99.7, 939/942) responded that they have a clinical diagnosis, though all 942 provided a specific diagnosis in the question asking what RD(s) they were diagnosed with. Age at Diagnosis The largest group of respondents were diagnosed as adults (44.4%, 516/938), followed by during childhood (27.9%, 262/938) and at birth (16.7%, 157/938). The remaining were diagnosed during pregnancy, as a teen, “other,” or were unsure. Respondents’ reported age of diagnoses was compared with the usual age of onset for their given disease as classified by clinician MJS (Table 3 ). Each specific disease was reviewed in regard to common symptoms, severity, and if any causative genes have been identified, using relevant scientific websites and databases (see methods). The timeframes generally aligned, with most respondents with a congenital disease having been diagnosed at birth, otherwise as a toddler, and the vast majority of those who would be expected to show symptoms in adulthood having been diagnosed in adulthood. Table 3 Usual age of disease onset compared to actual age diagnosed The usual age of onset for the reported diagnosis Congenital/ Newborn n = 216 (%) Toddler n = 122 (%) Adulthood, n = 37 (%) Varies, n = 562 (%) Actual age at respondent’s diagnosis During pregnancy 3.3 - - 1.1 At birth 46.3 12.4 - - Childhood 34.1 65.3 - - Teenage 2.3 3.3 - - Adulthood 4.7 4.7 86.5 62.9 Time to diagnosis Nearly half of respondents were diagnosed within a year from their first point of contact with healthcare (47.2%, 939), and over one third were diagnosed in under 6 months (36.6%, n = 939). For 1 in 10 respondents, it took over 10 years to get their diagnosis (10.8%, n = 939).Table 4 presents the percentage diagnosed within a certain timeframe (columns) according to the usual age of onset (rows); the usual age of onset was determined by clinician MJS. The analysis found that respondents with a diagnosis typical of a younger age of onset tended to have a shorter diagnosis timeline. Table 4 Time to diagnosis reported according to usual age of onset The usual age of onset for the reported diagnosis Congenital/ newborn, n = 214 (%) Toddler, n = 122 (%) Adulthood, n = 37 (%) Varies, n = 562 (%) Time to receive a diagnosis 10 years 6.1 5.7 8.1 13.9 Other or don’t know 14.5 12.3 18.2 13.2 Table 5 . presents the percentage diagnosed within a certain timeframe (rows) according to the grouping (columns) regarding assumed diagnose impact was determined by clinician MJS. The analysis found that roughly one third of all groups were diagnosed in under six months and another 10% within 7–11 months. Table 5 Time to diagnosis by group (according to the labeled groups, page 10) Grouping/ Labelling Motor impair- ment n = 184 (%) Intellec- tual disability n = 305 (%) Complex syndrome n = 446 (%) Over half of care in PC, n = 203 (%) Under half of care in PC n = 325 (%) All N = 939 Time to receive a diagnosis 10 years 9.8 6.9 5.61 11.8 8 10.8 Other or don’t know 14.7 11.8 13.9 12.3 9.23 13.7 Genetic Testing Clinician MJS performed a classification of given RD diagnoses, with regards to whether or not the diagnosis has a known genetic cause (including also cases where genetic cause is known for some subtypes). According to this classification, a large portion of RDs provided by respondents have a known genetic cause (82%, 770/939). However, only 446 of all respondents received genetic testing as part of the diagnosis process, which resulted in the diagnosis of one or more RDs for 76.1% (335/440), see Fig. 3 . Again, considering MJS’ classification of whether or not the diagnosis has a known genetic cause, we found that 54.4% (419/770) of those (770) with a diagnosis with a known genetic cause underwent genetic testing. Of the small percentage for which there is no known genetic cause, 14.2% (24/169) reported having carried out genetic testing. Of those who reported having been diagnosed with one or more RDs via genetic testing ( n = 335), over a third (38.9%, 130/335) reported that they were diagnosed in childhood and roughly as many (38.3%, 128/335) were diagnosed in adulthood. The next largest group (12.3%) was diagnosed at birth. Those who were not offered genetic testing ( n = 443) were asked whether they would have liked it, of which 35% (155/443) reported that they did. Out of those 155, only 33 have a diagnosis with a known genetic cause. Additionally, 77 individuals have a disease where genetic causes are known only for some subtypes. Disease Impact A large portion (39.2%, 361/921) spend an hour or less per week in healthcare or self-managing their RD(s). However, 19.5% (178/921) spend over five hours a week. Only about half (53.5%, 223/417) of caregivers worked/studied full-time (100%), of which 16.1% (64/397) reported reduced hours (< 100%) were due to their role as a caregiver to someone with a RD. The majority (67.4%, 314/467) of those answering from the patient perspective reported that they work/study reduced hours (< 100%) due to their RD. The number of participants who reported working reduced work hours did not differ noteworthy between groups intellectual disability, motor impairment, complex syndrome and length of diagnosis journey. Healthcare Use Differences exist in how individuals’ healthcare is distributed and organized. Important variables are proportion of healthcare being provided by in primary care, access to experts/specialists on the RD, and access to supporting services like care coordinators for increased continuity and coordination. An overview of reported distribution of these services is provided in Table 6 . Table 6 Utilization and experience of healthcare. Proportion of care in primary care , ( n = 936) Count % More than half 204 21.8 Mixed 164 17.6 Less than half 326 34.9 Don’t know or Not relevant 130 25.7 Number of care coordinators you have access to , ( n = 937) Multiple 423 45.1 One 209 22.3 None, but I need one 131 14.0 None, and not needed 69 7.3 What is a care coordinator? 33 3.5 Not relevant 28 3.0 Don’t know or Prefer not to specify 69 7.4 Who is/are your care coordinator(s) , ( n = 634) * MD in primary care 207 32.7 MD in other specialty care 524 82.7 Nurse in primary care 75 11.8 Nurse in other specialty care 178 28.1 Psychologist 54 8.5 Social worker 69 10.9 Physiotherapist 184 29.0 Other 77 12.2 Usefulness of care coordinator(s) , ( n = 625) Yes, they are helpful in coordinating my care 228 36.5 No, they are not helpful in coordinating my care 158 25.3 Don’t know , Not relevant or Prefer not to specify 239 38.2 * Multiple-choice question, so percentages will not add up to 100%. Participants reported a high number of healthcare visits across multiple levels of the healthcare sector, with 60–70% of respondents across healthcare levels indicating at least one visit to each of the seven healthcare system levels over the past six months (see Fig. 5 ). Most visits were in-person primary care. Overall, 70.6% of participants reported one or more primary care visits, with rates differing by group: 65.5% among respondents living with a syndrome and 75.2% among those with a motor disability. In contrast, very few digital visits were reported. A minority (20%) of respondents reported that their healthcare was mainly situated within primary care, see Table 6 . This remains true within the individual levels of eight groupings (defined above e.g., motor impairment, intellectual disability, complex syndrome) as well (range 20%-24%). Chi-square tests of independence found a significant association between time to diagnosis and the proportion (under/over half, mixed) of care delivered in primary care, χ²(2, N = 337) = 15.21, p < .001, FDR-adjusted p = 0.026, Cramer’s V = 0.21. Those diagnosed after 10 years were more likely than expected to report mixed care (SR = 3.53) and less likely to report under half of care in PC (SR = − 3.26). Respondents diagnosed within six months were more likely than expected to report under half of their care in primary care (SR = 3.26) and less likely to report mixed care (SR = − 3.53). No pattern found in relation to having majority of care in PC. Seven out of ten reported that they have been in contact with an expert on their RD (at any given time). This number is the lowest among those with an intellectual disability (61.65%) and those with a long (> 10 year) diagnosis (61.39%). Most (139/204, 68.15%) of respondents with over half of care in PC had consulted an expert ( Fig. 6 ) , as had most (248/326, 76.07%) of those with less than half of care in PC. Although the association between expert contact and the proportion of care delivered in primary care reached nominal significance, χ²(2, N = 690) = 7.30, p = 0.03, it did not remain significant after false discovery rate correction (FDR-adjusted p = .52, Cramer’s V = .10). Nevertheless, respondents with an expert contact were more likely to report a minority (< 50%) of care within PC (SR = 2.65), whereas those without or unsure about expert contacts were less likely to have (SR = − 2.65). Less than half (47.5%) stated that they have care coordinator with a HCP for continuity and/or help with coordinating care, of which the majority (82.7%) have a physician in a specialty other than primary care, and about a third have a primary care physician (32.7%), a nurse in another specialty (28.1%), and a physiotherapist (29%). A quarter (25.3%) of those with a care coordinator did not feel that their care coordination was helpful (Table 6 ). Perceptions of healthcare Fewer than a third (29.9%, 280/936) responded that the level of knowledge within healthcare is sufficient to provide the correct treatment/follow-up for their RD, and just over half (51.4%, 481/936) responded that the knowledge within healthcare does not suffice. Only 11.7% (109/934) felt there is adequate support from healthcare and public services as they age, although the majority responded that they were unsure (59.3%, 554/934). Care needs met across groups Most participants (80.2%, 741/926) reported that their care needs were mostly or always met. The highest levels reported were by those who have met an expert in their RD (85%). Around 80% of all groups were mostly/always satisfied with their care. In contrast, 17.3% indicated that their needs were not met (see Fig. 7 ). The group that reported the lowest satisfaction of care needs being met (56.6%, Fig. 7 ) was those who waited over 10 years for a diagnosis. These participants were diagnosed with a range of 41 different diagnoses, though four were listed more frequently, namely: mast cell diseases ( n = 13), Poland's syndrome, ( n = 12), dystonia ( n = 11), and Morbus Osler (HHT) ( n = 10). Chi-square tests of independence found a strong association between diagnosis length and reported care needs, χ²(2, N = 438) = 45.94, p 10 years) were more likely than statistically expected to report unmet/rarely met needs (SR = 6.77) and less likely to report mostly/always met needs (SR = − 6.59). Those diagnosed within 6 months showed the opposite pattern, and were more likely to report that their care needs were mostly/always met (SR = 6.59) and less likely to report unmet/rarely met (SR = − 6.77). There were also significant associations for having a complex syndrome, χ²(2, N = 923) = 17.90, p < .001, FDR-adjusted p = 0.009, Cramer’s V = 0.14, where respondents with a complex syndrome were more likely than expected to report that their care needs were met (SR = 4.23) and less likely to report their needs as unmet (SR = − 3.97). Respondents’ proportion of care within primary care was also significant, χ²(2, N = 523) = 10.65, p = 0.005, FDR-adjusted p = 0.01, Cramer’s V = 0.14. Respondents whose care was mostly within PC were overrepresented in reporting that their needs were not/rarely met (SR = 2.86) and underrepresented in reporting mostly/always (SR = − 3.20). The largest association was, however, whether respondents had seen an expert, χ²(2, N = 923) = 29.50, p < .001, FDR-adjusted p = 0.005, Cramer’s V = 0.18. Respondents with an expert contact were underrepresented in reporting that their care needs were not/rarely met (SR = − 5.07) and overrepresented in their needs being met (SR = 5.43). In contrast, those lacking an expert contact were overrepresented in reporting that their care needs were not/rarely met (SR = 5.43) and underrepresented in reporting their needs mostly/always met (SR = − 4.07). No significant associations for motor impairment χ²(2, N = 922) = 1.81, p = 0.40, FDR-adjusted p = 0.45, Cramer’s V = 0.04. or intellectual disability χ²(2, N = 924) = 0.21, p = 0.90, FDR-adjusted p = 0.90, Cramer’s V = 0.01 were observed. Trust Participants were asked to rate their level of trust in (1) healthcare services in general ( 2 ) healthcare professionals in general, and ( 3 ) primary care professionals (Figs. 8 – 10 ). Over half of respondents in all groups except those with a 10 + years diagnosis journey reported high/very high trust in services, and over half of all groups did for HCPs. In general, HCPs received higher trust than HC services. Trust in Healthcare (HC) To further investigate participant group differences, chi-square tests of independence were conducted on reported trust in healthcare. There was a significant association between having a complex syndrome and level of trust, χ²(4, N = 929) = 14.68, p = 0.005, FDR-adjusted p = 0.01, Cramer's V = 0.13. Respondents with a diagnosis classified by our clinician as complex, were less likely than expected to report little/very little trust (SR = − 2.57) and more likely to report don’t know/not relevant (SR = 2.82). Conversely, those where the classification of the diagnosis was less complex or unknown, respondents were more likely to report little/very little trust (SR = 2.47). Time to diagnosis was also significant, χ²(4, N = 440) = 40.15, p < .001, FDR-adjusted p = 0.005, Cramer’s V = 0.30, indicating that a shorter diagnostic timeline was associated with higher trust. Respondents diagnosed within six months were overrepresented in high/very high trust category (SR = 4.51), whereas those diagnosed after 10 years were overrepresented in the little/very little trust category (SR = 4.39). Analysis was restricted to long vs short diagnosis groups; participants with medium-length diagnoses were excluded. Finally, having had an expert contact showed the strongest association, χ²(16, N = 930) = 37.49, p < .001, FDR-adjusted p = 0.004, Cramer’s V = 0.20. Standardized residuals indicated that participants with an expert contact were more likely than expected to report high/very high trust in healthcare (SR = 5.15) and less likely to report little/very little trust (SR = − 3.52) or neutral (SR = − 2.52), whereas those who lacked an expert showed the opposite trend (SRs = − 5.15, 3.33). No significant associations were observed for motor impairment χ²(4, N = 928) = 5.62, p = 0.23, FDR-adjusted p = 0.331, Cramer’s V = 0.08, intellectual disability χ²(4, N = 930) = 3.69, p = 0.45, FDR-adjusted p = 0.532, Cramer’s V = 0.06, or proportion of care in primary care χ²(4, N = 525) = 1.40, p = 0.84, FDR-adjusted p = 0.874, Cramer’s V = 0.05. Trust in Healthcare Professionals (HCPs) In regard to HCPs, level of trust was significantly associated with time to diagnosis, χ²( 4, N = 434) = 30.33, p < 0.001, FDR-adjusted p = 0.004, Cramer’s V = 0.26. Those diagnosed within 6 months reported higher-than-expected trust (SR = 4.02) and lower-than-expected reports of little/very little trust (SR = − 3.69). In contrast, those with a long (> 10 years) diagnostic delay reported the opposite trend (SRs = − 4.02, 3.69). Respondents’ complex syndrome status (Yes vs. No/Unknown) was also significantly associated with reported trust, χ²(4, N = 918) = 16.22, p < .01, FDR-adjusted p = 0.019, Cramer’s V = 0.13. Standardized residuals indicated that participants without a complex syndrome had higher-than-expected reports of little trust (SR = 3.06), whereas participants with a complex syndrome had lower-than-expected reports of little trust ( SR = − 3.06). The largest effect observed was, again, with having an expert contact (or not), χ²(4, N = 919) = 54.91, p < .001, FDR-adjusted p = 0.003, Cramer’s V = 0.24. Those with an expert contact were more likely than expected to report high/very high trust (SR = 6.29) and less likely than expected to report little/very little trust (SR = − 4.69) or no trust at all (SR = − 3.96). Those without an expert contact were more likely to report no (SR = 3.96) or little/very little trust (SR = 4.69) and less likely to report high trust (SR = − 6.29). Those with an expert contact were more likely than expected to report high/very high trust (SR = 6.29) and less likely than expected to report little/very little trust (SR = − 4.69) or no trust at all (SR = − 3.96). Those opposite trend was found for those without an expert contact (SRs = − 6.29, 3.96, 4.69). No significant associations were found for motor impairment, χ²(4, N = 917) = 2.24, p = 0.69, FDR-adjusted p = 0.748, Cramer’s V = 0.05, intellectual disability, χ²(4, N = 919) = 4.46, p = 0.35, FDR-adjusted p = 0.455, Cramer’s V = 0.07, or whether participants received a majority or minority of care in primary care, χ²(4, N = 522) = 2.31, p = 0.69, FDR-adjusted p = 0.748, Cramer’s V = 0.07. Standardized residuals did not indicate any cells higher or lower-than-expected. Trust in Primary Care Professionals The third form of trust evaluated was trust in primary care professionals. The proportion of care provided in primary care was significantly associated with trust in primary care professionals, χ²(20, N = 5230) = 24.59, p < .001, FDR-adjusted p = 0.003, Cramer's V = 0.22. Those whose care was mostly in primary care had higher-than-expected trust in primary care professionals (SR = 4.69) and lower-than-expected reports of having little/very little trust (SR = − 3.34). In contrast, those with under half of care in primary care showed lower-than-expected trust (SR = − 4.69) and reported higher-than-expected low trust (SR = 3.34). Time to diagnosis was associated with trust χ²(4, N = 436) = 20.13, p < .001, FDR-adjusted p = 0.003, Cramer's V = 0.21, where those with a short diagnosis journey were more likely to report high/very trust (SR = 2.14) or don’t know/not relevant (SR = 2.90) and less likely to report little/very little trust for primary HCPs. (SR = − 2.38). Respondents with a long diagnosis timeframe showed the inverse trend (SR = 2.38; − 2.14; − 2.90). Contact with an expert was also significantly related to trust in primary care professionals, χ²(4, N = 923) = 23.24, p < .001, FDR-adjusted p = 0.002, Cramer's V = 0.16. Those who had contact with an expert were more likely to report high/very high trust in primary care professionals (SR = 3.52) and less likely to report little/very little trust (SR = − 3.66) or no trust at all (SR = − 2.17). Conversely, those without an expert contact were more likely to report little/very little trust (3.66) and less likely to report high/very high trust (SR = − 3.52). While the raw p-values suggested nominal significance between having a complex syndrome and trust in HC services (χ²(4, N = 922) = 9.566, p = 0.05, Cramer's V = 0.10), these associations were not significant after controlling for multiple comparisons (FDR-adjusted p = 0.081). There were no significant associations observed for intellectual disability, χ²(4, N = 923) = 7.82, p = 0.10, FDR-adjusted p = 0.153, Cramer's V = 0.09, or motor disability, χ²(4, N = 921) = 4.63, p = 0.33, FDR-adjusted p = 0.331, Cramer's V = 0.07. Discussion The respondent group included a balanced proportion of people living with a RD (PLWRD) answering themselves and next of kin responding on behalf of an RD patient. This balance with the addition of those who answered from both perspectives, offers a more comprehensive understanding of the family system affected by an RD. It has previously been shown that living within a family with RD has implications for both the diagnosed individual, the parents, siblings, and the family system as a whole (Atkins and Padgett, 2024; Damen et al. 2022). The majority of the respondents had a higher educational level (more than one third had a university/college degree), which might on the other hand narrow down the general picture of the individuals and families affected by RDs and thereby decrease the generalizability from the results of this study. The high educational level of the respondents could be due to the fact that the survey only reached out to members of the patient organization “Rare diseases Sweden”, and that individuals with higher education are associated with higher health literacy higher capability of completing extensive surveys and greater health-engagement behaviors, and that is why individuals with higher education are more prone to fill in surveys and to engage with patient organizations in general (Rosário et al, 2024). So, as the survey was quite extensive, it could be more eligible for higher educated individuals to respond to this survey, all resulting in a bias of respondents. Consequently, the results presented here may overestimate the quality of care for PLWRD in Sweden as educational level, health literacy and access to, and use of, high quality healthcare are correlated (Rosário et al. 2024). In Sweden, healthcare is organized on the regional level, which contributes to unequal access to, for example, genetic testing, which can lead to injustices. The 21 regions are independent, with varying resources being located to genetic testing and specialty care. This leads to varying prioritization of and thereby injustice in (1) access to genetic testing ( 2 ) access to treatment as to whether or not you have a genetically confirmed diagnosis ( 3 ) access to support from society on different levels. However, several initiatives aim to reduce inequalities and promote justice for patients, including the national strategy for rare diseases currently under development and Genomic Medicine Sweden (GMS; Genomic Medicine Sweden | Improved diagnostics, care and treatment), which seeks to reduce regional disparities in access to genomic healthcare. Within our cohort, almost all reported that they/their next of kin had received a clinical diagnosis, and about one third had received a genetically verified diagnosis. Among the individuals who underwent a genetic test, four out of five received a genetic diagnosis. This is a higher level than the average diagnostic yield, which is approximately 20–40% (reviewed in Tesi et al. 2023) with today's available genetic testing methods. This discrepancy could also be explained by the recruitment of respondents among the members of the patient organization Rare Diseases Sweden , as most people become members after the diagnosis already is defined. Another explanation could be that the cohort of this survey may have gotten their clinical diagnosis in a more recent time, when genetic and genomic testing is available to a larger extent. The length of the diagnostic journey was investigated in depth as not having a diagnosis could delay and impair correct care, treatment, and support. With over 8000 RD known today and diagnostic methods developing rapidly, this is a challenge for the HC system and patients. Long diagnostic journeys have been reported for people living with a rare disease (PLWRD) ranging between 5–7 years (Faye et al. 2024, Rare Diseases Sweden member survey 2024 ). Our results are first to offer opportunities for looking deeper into which groups of PLWRD perceive the largest challenges and what consequences long waiting for correct diagnosis have on individuals. In our cohort, the majority received a diagnosis within 6 months to 1 year from the first contact with healthcare. This is mainly among individuals with a condition that has onset at a congenital or newborn age. RDs with congenital onset are diagnosed within six months in half of the cases, but the numbers drop to one third for onset as a toddler and varying onset, and to one fourth for onset in adulthood. In parallel, the number of individuals waiting for 4 years and more increases to about one fifth in the latter three groups. These results show that long diagnostic journeys are associated with diseases with later onset in life. This could partly be explained by that, congenital, newborn and childhood rare conditions are more often related to severe symptoms or being a syndrome, which could make it more “obvious” that it is a RD with a genetic cause, and therefore, a genetic test could be relevant for receiving a diagnosis, whereas adult-onset symptoms could be more subtle. Also, children are “automatically” followed at the child health centers (BVC) by routine protocols, for their development and thereby unusual development is more commonly detected. A comparison between subgroups of those being diagnosed within 6 months from first contact, show that having less than half of your healthcare contacts in primary care and having a complex syndrome increases the chance for having a shorter time to diagnosis, whereas having primarily motor impairment or isolated IF, more than half of your health care contact in primary care prolongs the time to diagnosis. Adult individuals do not have that “automatic” follow-up system by healthcare and must take the responsibility of contacting healthcare themselves, mostly through primary care. Adults’ HC contacts are mostly in primary care, which does not have sufficient awareness, knowledge or established routines in their clinic to offer, and/or to refer for, genetic/genomic testing; nor is it within their scope or economic resources within the Swedish HC organization (1177.se, Vårdgarantin). Another reason for adults receiving no or late diagnosis could be that, at the time when their symptoms started, the methods for genetic testing were limited, and no follow up for new genetic testing has been offered or performed since then. Resources in the clinical genetic setting are also limited, so there is no routine pathway for automatically offering new genetic/genomic tests, recontacting patients, or offering a reanalysis of data. Thus, the possibility of being offered to reanalyze data and recontact is more dependent on the patient contacting the healthcare system or on the specific doctors´ specific knowledge or update. Our results show that PLWRD have high HC needs, mirrored in the number of visits to HC services and amount of time invested in self-managing of their RD, both among care givers and PLWRD. Our results give valuable insight and incitement to investigate support needs that could free up resources among PLWRD or as next of kin. Another challenge for getting adequate HC for PLWRD is being dependent on primary HC. Due to the complexity, and lack of standard procedures for treatment of PLWRD, handling care for this patient group requires high flexibility and is often time consuming, which usually is hard to achieve in primary HC. The time at the appointment is limited for each patient and the patient is usually given the possibility to treat only one symptom during each visit, making it challenging for a person with a complex condition. Our results confirm this description, with respondents with most of the care in primary HC reporting their health needs being met to the lowest degree. In contrast, respondents diagnosed within six months were less likely to have most of the care in primary HC. This group also reported their health needs having been met to a higher degree. In Sweden, support systems exist for people with complex health challenges and high HC needs. Tools like care coordinators (fast vårdkontakt) and multiprofessional patient rounds (MDT) are two examples which aim to improve treatment continuity and coordination of care. These solutions are legally anchored, but in reality, less than half of participants report having access (The Swedish Patient Act (Patientlagen)). This disparity in care despite legal measures may partly be explained by regional organization in the Swedish healthcare system where each health care region still makes their individual prioritization based on resources and ethical concerns. Within our cohort, it was less common among the adult-onset respondents to have a care coordinator. This is in line with the healthcare organization in Sweden, where pediatric care has a more holistic approach to the child´s health problems and care needs whereas adult care is more prone to be “silos” meaning that for different healthcare problems/symptoms form different organs are treated by separate specialties in healthcare where communication between these systems is often lacking. Our results indicate that focused commitment to making these solutions easily available for the vulnerable group of PLWRD can have a large and positive impact for the individual and society. Optimizing HC processes and support for this group can help ease burden on the individual but also for the HC system. Development of HC structures to improve HC for PLWRD therefore needs to focus on these patient groups and related HC services, maybe by primary healthcare centers focusing on RD patients allowing more support to the MDs and longer appointments for each individual when needed. In Sweden some regions already have this kind of centers, showing good results in meeting the healthcare needs for this group (1177.se, Vårdgarantin). In many countries centers for RDs are built up, not only for advocating better care, but also meeting these persons for a holistic evaluation (Eurordis-Position-Paper-Mental-Health-2024.pdf). To improve healthcare for RD patients, most countries in the European Union (EU), has a national strategy for RDs, (National plans or strategies for rare diseases: page updated - Public Health), but this is still lacking in Sweden. A strategy supports both economically and gives mandate to both authorities and healthcare providers to prioritize this patient group. This has, for example, resulted in EU supporting ERN-networks that collect experts from all European countries and collaborate in multiprofessional teams (European Reference Networks - Public Health - European Commission). . Despite high levels of HC contact and health needs, only 70% have been in contact with an expert on their RD, the lowest being among those with intellectual disabilities (by expert we are referring to a HC professional with satisfactory knowledge about the RDs, their treatment and follow-up). At the same time, access to expertise is strongly associated with reports of health needs being met as well as with higher trust in the HC system and HC professionals. It is striking though that more than two thirds of our cohort thinks that the knowledge about their or their child´s RD within healthcare is non-sufficient. In RDs, a specific expert/expert team is in many cases not available for the more than 8000 currently known RDs. Many times, there is no possibility to meet one expert covering all symptoms in a specific RD, but it is still possible they have met different healthcare providers with knowledge and expertise related to specific symptoms. International collaboration is therefore important. Current processes/work is being performed to better link international RD expertise and implement it into Swedish HC structures (European Reference Networks - Public Health - European Commission). Of our study, most respondents, four out of five, state that their healthcare needs are met and over half state high trust in healthcare and healthcare providers. As above, individuals who met an expert have reported their healthcare needs met and felt trust in healthcare to the highest degree. However, there are groups of our cohort whose scores were lower than the overall majority. And there are three main reasons for not having care needs met and feeling trust. Having a complex syndrome, waiting longer than 10 years for a diagnosis and having most of their healthcare in primary care is correlated to not having care needs met and to lower trust in healthcare and healthcare providers. Thus, even if the most-part, in our cohort, receive a diagnose in a relatively short time, and only a small fraction has to wait long (more than 10 years for a diagnosis, it is here shown that decreasing time to diagnosis is of the highest importance for the individual, not only for achieving a diagnose to be able to have information on symptoms, prognosis and possible treatments, but in addition to help individuals to have their care needs met, and to increase their feeling of trust in healthcare. Limitations This survey presents perspectives of members of the Rare Diseases Sweden . As members, they are likely to have greater access to support services and health-related education compared to non-members. Consequently, people not included in this study may face even greater barriers in accessing and being satisfied with healthcare services. Additionally, it is possible that individuals who encounter difficulties or shortcomings within the healthcare system are more inclined to seek out such networks. Data was collected at the end of 2021, coming out of the COVID-19 pandemic, meaning that any influence the pandemic had would likely be reflected in the responses. Another aspect which may have changed for some RDs, though not all, is clinical knowledge, guidelines, and standard diagnosis/treatment (e.g. new genetic testing). The group labelling of respondents according to the diagnosis was done by a clinician using available data and referencing relevant clinical websites. Since there was no data available from the PLWRD’s medical journals and many RDs can have a very variable clinical picture and therefore some respondents might have been mislabeled, with the label reflecting the common presentation of that diagnosis rather than that of said individual. Also, we have excluded all respondents that have not specified their diagnosis. Survey questions were skippable, and answer options “not relevant,” “don’t know” and “prefer not to specify” meant that for some questions, too few responses were collected to draw any conclusions. Conclusion Unexpectedly, half of PLWRD received a diagnosis within a year, and a majority of them reported high levels of care needs met and healthcare thrust. However, the group that had to wait over 10 years to receive a diagnosis showed low trust in healthcare, and low levels of care needs met. Also, not having met an expert was associated with low levels of care needs met and trust in healthcare. As two out of three experienced insufficient knowledge among healthcare providers about their RD, it is of great importance that awareness, knowledge and education related to RDs, as well as to genetics/genomics, will increase in all healthcare sectors, including primary care. It is also of great importance to invest in better diagnostics and development of, as well as availability to genomic testing. Results from our study need to be considered when decisions are being made about allocation of national resources, including a national strategy, to support PLWRD into the Swedish HC system. Declarations Data availability Data used in this analysis is available upon request. Conflict of interest All authors declare that they have no conflict of interests. Funding Parts of this research have been funded under the EDIH Health Data Sweden, EU grant 101083629 Author Contribution SJ contributed to the survey design and data collection. MJS and CIM contributed with survey questions related to genetic testing and diagnosis. All authors discussed and contributed to ideation. JLL conducted data analysis with ideas, input and discussion from all authors and constructed the figures/tables. All authors contributed to the writing of the manuscript and contributed revisions. All read,reviewed and approved the final manuscript. Acknowledgement We thank the respondents for their time answering the survey. We thank the following collaborators for contributing towards the survey design: Center for Rare Diagnoses at Karolinska Institutet, LIF—The Research-based Pharmaceutical Industry in Sweden, the Swedish Agency for Health Technology and Assessment of Social Services (SBU), the Dental and Pharmaceutical benefits agency (TLV), and Sweden’s three specialized dental care centers of rare conditions, the National Board of Health and Welfare (Ågrenska), and the Swedish Agency for Health and Care Services (Vårdanalys). Parts of this research have been funded under the EDIH Health Data Sweden, EU grant 101083629. Charlotta Ingvoldstad Malmgren (CIM) wish to thank the Fondation Brocher of Hermance, Genève, Switzerland for hosting and funding the January 2025 workshop on Rare Disease Genomics and Justice. CIM also wish to acknowledge the additional financial support of the European Society of Human Genetics that supported travel and accommodation for some of the workshop participants References 1177.se. Vårdgaranti [Internet]. 2024. Available from: https://www.1177.se/sa-fungerar-varden/lagar-och-bestammelser/vardgaranti/#:~:text=Kontakt%20med%20prim%C3%A4rv%C3%A5rden%20samma%20dag,ett%20bes%C3%B6k%20eller%20ett%20videosamtal. Atkins JC, Padgett CR (2024). Living with a rare disease: psychosocial impacts for parents and family members – a systematic review. J Child Fam Stud. 33:617–636. Bauskis A, Strange C, Molster C, Fisher C (2022) The diagnostic odyssey: insights from parents of children living with an undiagnosed condition. Orphanet J Rare Dis. 2022 17(1):233. doi: 10.1186/s13023-022-02358-x. Briscoe S, Martin Pintado C, Sutcliffe K, Melendez-Torres GJ, Garside R, Lawal HM, Orr N, Shaw L, Thompson Coon J (2025) Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence. Orphanet J Rare Dis. 20(1):303. doi: 10.1186/s13023-025-03818-w. Damen I, Schippers A, Niemeijer A, Abma T (2022). Living with a rare disease as a family: a co‑constructed autoethnography from a mother. Disabilities. 2022;2(2):348–364. Eurordis. What is a rare disease? What is a rare disease? - EURORDIS-Rare Diseases Europe (retrieved 2 nd April, 2026) European Reference Networks - Public Health - European Commission (retrieved 2 nd April, 2026) Faye, F. et al. (2024) 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 32: 1116–1126. doi.org/10.1038/s41431-024-01604-z Ferreira CR (2019) The burden of rare diseases. Am J Med Genet A. 2019 179(6):885-892. doi: 10.1002/ajmg.a.61124 GMS; Genomic Medicine Sweden | Improved diagnostics, care and treatment (retrieved 2 nd April, 2026). Hemmesch A. R., Bogart K. R., Barnes E. “Lack” and “Finally”: A qualitative analysis of barriers and facilitators in rare disease healthcare. International Journal of Environmental Research and Public Health. 2025;22(1):117. Luckhaus J, Charlotta Ingvoldstad Malmgren C, Blom P, Juran S, Johansson Soller M, Kharko A (2025) Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey. https://doi.org/10.21203/rs.3.rs-6334393/v1s Marwaha S, Knowles JW, Ashley EA (2022) A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 14(1):23. doi: 10.1186/s13073-022-01026-w. National plans or strategies for rare diseases: National plans or strategies for rare diseases: page updated - Public Health retrieved (April 2 nd 2026) Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 28(2):165-173. doi: 10.1038/s41431-019-0508-0. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). https://omim.org/ Orphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM. 1997. Available at: http://www.orpha.net Rare Diseases Sweden (sallsyntadiagnoser.se) (https://doi.org/10.1038/s41431-024-01604-z, Rare Diseases Sweden member survey 2024 Rareminds Rare Minds Matter - Mental Health & Rare Disease doi: 10.1111/joim.13655 ease Survey Report Published. - Rareminds Reed S, Le Calvé P, DeCongelio M et al. (2024) Assessing gaps in the timely referral of patients for a rare disease diagnosis: A cross‑sectional survey of physicians in Europe. Value in Health. 27: S351. Rosário J, Raposo B, Santos E, Dias S, Pedro AR (2024) Efficacy of health literacy interventions aimed to improve health gains of higher education students-a systematic review. BMC Public Health 24(1):882. doi: 10.1186/s12889-024-18358-4. Smith CIE, Bergman P, Hagey DW (2022) Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare. Science. 25(8):104698. doi: 10.1016/j.isci.2022.104698. The Swedish Patient Act. (Patientlagen 2014:821) Stockholm: Sveriges riksdag. The Swedish Research Ethics Review Act (Etikprövningsmyndigheten SFS 2003:460) Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A (2023) Precision medicine in rare diseases: What is next? J Intern Med. 294(4):397-412. doi: 10.1111/joim.13655 Additional Declarations No competing interests reported. Supplementary Files RiksfrbundetSllsyntadiagnosermedlemsunderskninghsten2021002.pdf STROBEchecklistv4crosssectional.docx Cite Share Download PDF Status: Under Revision Version 1 posted Editorial decision: Revision requested 15 May, 2026 Reviews received at journal 14 May, 2026 Reviews received at journal 13 May, 2026 Reviewers agreed at journal 29 Apr, 2026 Reviewers agreed at journal 24 Apr, 2026 Reviewers invited by journal 23 Apr, 2026 Editor assigned by journal 14 Apr, 2026 Submission checks completed at journal 14 Apr, 2026 First submitted to journal 10 Apr, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-9378200","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":633644489,"identity":"44329985-a081-4461-9997-79e95193dd21","order_by":0,"name":"Maria Johansson Soller","email":"","orcid":"","institution":"Karolinska Institutet","correspondingAuthor":false,"prefix":"","firstName":"Maria","middleName":"Johansson","lastName":"Soller","suffix":""},{"id":633644490,"identity":"8c1dff63-9af7-4d8b-a800-8f2cfd8f9fe5","order_by":1,"name":"Jamie Linnea Luckhaus","email":"","orcid":"","institution":"Uppsala University","correspondingAuthor":false,"prefix":"","firstName":"Jamie","middleName":"Linnea","lastName":"Luckhaus","suffix":""},{"id":633644497,"identity":"755ba74f-be8f-40dc-97da-81299b891def","order_by":2,"name":"Stephanie Juran","email":"","orcid":"","institution":"Rare diseases Sweden","correspondingAuthor":false,"prefix":"","firstName":"Stephanie","middleName":"","lastName":"Juran","suffix":""},{"id":633644500,"identity":"487e7c51-159a-4922-911b-5da7e53c7e3a","order_by":3,"name":"Charlotta Ingvoldstad Malmgren","email":"data:image/png;base64,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","orcid":"","institution":"Karolinska University Hospital","correspondingAuthor":true,"prefix":"","firstName":"Charlotta","middleName":"Ingvoldstad","lastName":"Malmgren","suffix":""}],"badges":[],"createdAt":"2026-04-10 10:24:04","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9378200/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9378200/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":108736073,"identity":"6d834f3c-6a9a-47aa-a15f-ebd6f6c0eb0b","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":880478,"visible":true,"origin":"","legend":"\u003cp\u003eSurvey questions included in the analysis.\u003c/p\u003e","description":"","filename":"floatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/06a2e75b8f6869950615e1c5.png"},{"id":108736075,"identity":"bcdc5e82-f1b9-4f34-9482-6705bd2b7e6d","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":27209,"visible":true,"origin":"","legend":"\u003cp\u003ePercentage of respondents per clinician-based grouping\u003c/p\u003e\n\u003cp\u003eNote: Respondents may fall into multiple groups. Grouping was done by a clinician (MJS).\u003c/p\u003e\n\u003cp\u003eEach grouping had three options \u003cem\u003e(always, in some cases\u003c/em\u003e or \u003cem\u003eunknown\u003c/em\u003e)\u003c/p\u003e","description":"","filename":"floatimage3.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/f6ab4cdda6b3fdb2099b74db.png"},{"id":108977203,"identity":"010703ff-c47f-4c04-b63c-24d07acb45e6","added_by":"auto","created_at":"2026-05-11 11:30:52","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":186139,"visible":true,"origin":"","legend":"\u003cp\u003ePercentage whose genetic test resulted in a RD diagnosis\u003c/p\u003e","description":"","filename":"floatimage4.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/8a07ec359bcc34f5079251c5.png"},{"id":108807241,"identity":"e72f6b25-dc2c-4397-8547-376b76501196","added_by":"auto","created_at":"2026-05-08 15:30:19","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":15050,"visible":true,"origin":"","legend":"\u003cp\u003ePercentage of respondents with a RD of known genetic cause\u003c/p\u003e","description":"","filename":"floatimage5.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/3499aad8be50e6bd19be1caf.png"},{"id":108736078,"identity":"7ff414c5-2c00-443d-bf9e-adcbea9302bb","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":5,"title":"Figure 5","display":"","copyAsset":false,"role":"figure","size":43214,"visible":true,"origin":"","legend":"\u003cp\u003ePercentage of frequency respondents visited each healthcare sector in the last 6 months.\u003c/p\u003e","description":"","filename":"floatimage6.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/101d2ee1e582442d77e88ba2.png"},{"id":108806636,"identity":"a4074f7a-4e4d-43f5-82c2-ae49ddc09ea6","added_by":"auto","created_at":"2026-05-08 15:29:09","extension":"png","order_by":6,"title":"Figure 6","display":"","copyAsset":false,"role":"figure","size":64547,"visible":true,"origin":"","legend":"\u003cp\u003eConsulted an expert on their RD.\u003c/p\u003e","description":"","filename":"floatimage7.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/5b395ad470ae3d36653f65d9.png"},{"id":108736079,"identity":"f9f74cc9-6fe4-452c-82ef-ece06e76e0db","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":7,"title":"Figure 7","display":"","copyAsset":false,"role":"figure","size":71828,"visible":true,"origin":"","legend":"\u003cp\u003eWhether care needs were met reported by group\u003c/p\u003e","description":"","filename":"floatimage8.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/388c5462eb96eb8fa7b981c6.png"},{"id":108806352,"identity":"f01f6b91-4987-4cb0-901b-88fac0139fcd","added_by":"auto","created_at":"2026-05-08 15:28:20","extension":"png","order_by":8,"title":"Figure 8","display":"","copyAsset":false,"role":"figure","size":628629,"visible":true,"origin":"","legend":"\u003cp\u003eTrust in healthcare services reported by group\u003c/p\u003e","description":"","filename":"floatimage9.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/bcaa15ef10575c0cff979ca4.png"},{"id":108736083,"identity":"c5625605-03b8-4f2d-9084-a679c05f2d32","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":9,"title":"Figure 9","display":"","copyAsset":false,"role":"figure","size":77997,"visible":true,"origin":"","legend":"\u003cp\u003eTrust in healthcare professionals reported by group\u003c/p\u003e","description":"","filename":"floatimage10.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/83c33f7ec41ba78dab560d56.png"},{"id":108736084,"identity":"b784c66f-9ba0-44b5-b98c-e0d2df32dfde","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"png","order_by":10,"title":"Figure 10","display":"","copyAsset":false,"role":"figure","size":83444,"visible":true,"origin":"","legend":"\u003cp\u003eTrust in healthcare primary care professionals reported by group\u003c/p\u003e","description":"","filename":"floatimage11.png","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/f623b42e6d5bba6136d53e43.png"},{"id":109070217,"identity":"64948a2a-2f7d-440a-96d0-bb8430cc1edb","added_by":"auto","created_at":"2026-05-12 10:29:38","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2522195,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/e5f018d1-7b25-4172-bb8e-e2207827aa39.pdf"},{"id":109067693,"identity":"030fe325-2e07-4a94-85c1-c4aadf25f798","added_by":"auto","created_at":"2026-05-12 09:59:58","extension":"pdf","order_by":2,"title":"","display":"","copyAsset":false,"role":"supplement","size":298932,"visible":true,"origin":"","legend":"","description":"","filename":"RiksfrbundetSllsyntadiagnosermedlemsunderskninghsten2021002.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/440d35cda05dccb0a1c5f557.pdf"},{"id":108736077,"identity":"fb3c9f45-11c3-42fd-8f2b-473f321fceed","added_by":"auto","created_at":"2026-05-07 20:11:34","extension":"docx","order_by":3,"title":"","display":"","copyAsset":false,"role":"supplement","size":35087,"visible":true,"origin":"","legend":"","description":"","filename":"STROBEchecklistv4crosssectional.docx","url":"https://assets-eu.researchsquare.com/files/rs-9378200/v1/8005649c82b7a91b6befc64d.docx"}],"financialInterests":"No competing interests reported.","formattedTitle":"Diagnostic journey and Care Experiences of Persons living with Rare Diseases in Sweden","fulltext":[{"header":"Introduction","content":"\u003cp\u003eIn Europe, including Sweden, a rare disease (RD) is defined as a disease affecting fewer than 1 in 2000 individuals in a population (EURORDIS-Rare Diseases Europe). However, RDs collectively affect as many as ,3.5\u0026ndash;5.9%, due to the large number of specific RDs. Currently there are at least 6000\u0026ndash;8000 described RDs. It is estimated that approximately 500 000 individuals in Sweden, and hundreds of millions worldwide are affected, and up to 80% are believed to have a genetic origin (Ferreira 2019; Smith, et al. 2022). The phenotypes can range from mild symptoms in a single organ, for example eyes, to syndromes affecting multiple organs, with severe neurological symptoms like intellectual disabilities. Many RDs manifest in childhood, but some later in life; they can be life-long, impact quality of life, and may lead to a shorter life span (Nguengang Wakap et al. 2020). Living with an RD or having a child with a rare condition not only affects the physical health of the affected individual but also often comes with psychosocial or even mental health issues due to lifelong circumstances (\u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e\u003ca href=\"http://www.rareminds.org\" target=\"_blank\"\u003ewww.rareminds.org\u003c/a\u003e\u003c/span\u003e\u003cspan address=\"http://www.rareminds.org\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e). The affected individual as well as parents often need to have the role of an expert, coordinator, and advocate (Bauskis et al 2022).\u003c/p\u003e \u003cp\u003eThe etiology of a RD can be diverse, including events in pregnancy, physical injury, or environmental factors, though the majority\u0026mdash;as many as 72\u0026ndash;80% of the RDs\u0026mdash;are of genetic cause (Nguengang Wakap et al. 2020; Marwaha et al. 2022). A molecular diagnosis can help in understanding the underlying cause and assess prognosis and familial risk. Also, it may help in planning proper surveillance or enable targeted treatment. The time between disease onset and molecular diagnosis can be long, sometimes referred to as \u0026ldquo;the diagnostic odyssey\u0026rdquo; (Bauskis et al. 2022; Tesi et al. 2023). Delays might be caused by factors such as not being referred for genetic testing, inappropriate testing, or because of testing was performed at a time that current available testing lacked the sensitivity or resolution needed to detect the underlying genetic cause. Diagnostic yields for rare diseases range from 20% to 50%, depending on inclusion criteria (defined symptoms) for the referral for genetic testing. Even with modern comprehensive approaches such as whole-genome sequencing (WGS), more than 60% of cases might remain genetically undiagnosed (reviewed in Tesi et al. 2023). Therefore, many patients only have a diagnosis based purely on their clinical symptoms. The average time for diagnosis is also long (Bauskis et al. 2022; Reed et al. 2024), although modern sequencing technologies have improved the protracted diagnostic journey.\u003c/p\u003e \u003cp\u003eIn terms of the structure of Swedish healthcare, it is primarily tax-funded​. Sweden has about 44 000 physicians, including around 7 000 general practitioners (GPs) that work in primary care, but only approximately 100 clinical geneticists. General medicine is responsible for managing a wide range of cases in Sweden, including infections, minor injuries, asthma, type 2 diabetes, hypertension, heart failure, depression, chronic pain, maternity care, and pediatric care. The healthcare system is structured so that a patient\u0026rsquo;s first point of contact is typically their GP, who then refers them to a specialist when necessary (1177.se, V\u0026aring;rdgaranti). Many individuals with RD report challenges in availability to a GP as their disease is often considered too complicated for primary care, even when they might have only more common infections or symptoms not related to their specific rare conditions, and which are otherwise generally treated by a GP (1177.se, V\u0026aring;rdgaranti). Also, many of them have experienced a lack of referrals to specialist care, and many times they themselves need to coordinate their healthcare contacts, (\u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e\u003ca href=\"http://www.rareminds.org\" target=\"_blank\"\u003ewww.sallsyntadiagnoser.se\u003c/a\u003e\u003c/span\u003e\u003cspan address=\"http://www.sallsyntadiagnoser.se\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e; Briscoe, Pintada et al. 2025; Hemmesch, et al. 2025). Often, there is also a lack of experts on the specific rare condition (expert is here defined as a HC professional with satisfactory knowledge about the RDs, their treatment and follow-up) (Hemmesch et al. 2025).\u003c/p\u003e \u003cp\u003eOur study aims to deepen the knowledge about the RD diagnostic journey and explore the healthcare needs and trust in healthcare among people living with a RD (PLWRD) and their next of kin based on a survey distributed by \u003cem\u003eRare Disease Sweden\u003c/em\u003e to their members. We also aim to identify the gaps and discuss their experiences in relation to what is offered in Swedish healthcare.\u003c/p\u003e "},{"header":"Methods","content":"\u003cp\u003eThe study is reported in accordance with the STROBE checklist for cross-sectional studies (see Appendix 1).\u003c/p\u003e\n\u003cp\u003eStudy Design and Setting\u003c/p\u003e\n\u003cp\u003eWe analyzed the responses to an online survey carried out by \u003cem\u003eRare Diseases Sweden\u003c/em\u003e (\u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003esallsyntadiagnoser.se\u003c/span\u003e), which consisted of 105 items: single-choice, multiple-choice, likert scale, and free-text items. The estimated time to fill in the survey was 60 minutes, depending on how many free-text questions participants chose to answer. None of the items were mandatory, and some questions appeared conditionally based on the respondent\u0026rsquo;s previous response. The survey was designed in Swedish by \u003cem\u003eRare Diseases Sweden\u003c/em\u003e in collaboration with the Center for Rare Diagnoses at Karolinska University hospital, LIF\u0026mdash;The Research-based Pharmaceutical Industry in Sweden, the Swedish Agency for Health Technology and Assessment of Social Services (SBU), the Dental and Pharmaceutical benefits agency (TLV), and Sweden\u0026rsquo;s three specialized dental care centers of rare conditions, the National Board of Health and Welfare (Socialstyrelsen), and the Swedish Agency for Health and Care Services (V\u0026aring;rdanalys). The original survey can be found in Appendix 2.\u003c/p\u003e\n\u003cp\u003eThe survey was open for one month (November 29th, 2021 - December 22nd, 2021) and shared with the 8,594 members of \u003cem\u003eRare Diseases Sweden\u003c/em\u003e who had provided contact information. Members with a rare disease diagnosis themselves and/or next of kin to someone with a rare diagnosis were invited to complete the survey. Respondents under 16 were required to complete the survey together with an adult. The survey was distributed digitally using a commercial survey company (Stoswe.se), who sent out a unique survey link to each participant via e-mail or SMS, depending on contact details provided by participants. Participants who did not complete the study received up to two reminders also by e-mail or SMS. This resulted in 1 481 responses, which gave a response rate of 17.3%. Responses were anonymous, so we have not confirmed their diagnosis with their patient records.\u003c/p\u003e\n\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\n \u003ch2\u003eInclusion Criteria\u003c/h2\u003e\n \u003cp\u003eRespondents could select from 128 different RDs, write in (free-text) or choose \u0026quot;prefer not to specify.\u0026rdquo; To achieve our sample, we excluded anyone who did not specify which RD diagnosis (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;231) because we wanted to deepen the analysis by taking the nature of the diagnoses into account. We also excluded individuals with Ehlers-Danlos Syndrome (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;310), as they were the focus of a separate paper (Luckhaus et al, 2025). Any written-in responses of the diagnoses were manually sorted by a clinician (MJS). This resulted in a total sample of 942 patients (see Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eSample compared to initial survey sample.\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"2\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e\n \u003cp\u003e\u003cstrong\u003eOriginal sample size\u003c/strong\u003e\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eTotal sample\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e1 483\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSpecified RD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eYes, reported Ehlers-Danlos Syndrome (EDS/HDS)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e-310\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNo, did not specify\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e-231\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eYes, reported diagnosis other than EDS/HDS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e\u003cstrong\u003e942\u003c/strong\u003e (our sample)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003ctfoot\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"2\"\u003e\u003cem\u003eNote\u003c/em\u003e: For exact wording of the survey items, refer to Appendix 2 and 3.\u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tfoot\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003eThe excluded group\u003c/p\u003e\n \u003cp\u003eThose who did not specify their diagnosis (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;230) were excluded from the analysis, since we could not group them (e.g. motor impairment or not) based on their disease as they had not stated a diagnosis in the survey. Of these excluded respondents, nearly half (47.6%, 108/227) were unsure as to whether they have a clinical diagnosis and whether it is reported in their EHR, and nearly a third (33.9%, 77/227) responded that they do not have a clinical diagnosis. Out of the 230 who did not specify their diagnosis, 34 individuals (14.8%) reported that they were diagnosed via genetic testing. Note that all survey respondents were members of \u003cem\u003eRare Diseases Sweden\u003c/em\u003e.\u003c/p\u003e\n\u003c/div\u003e\n\u003ch3\u003eAnalysis\u003c/h3\u003e\n\u003cp\u003eWe used 26 questions from \u003cem\u003eRare Diseases Sweden\u003c/em\u003e\u0026rsquo;s member survey from 2021 (see Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Analysis consisted of descriptives (count, percentage) summarized through frequency tables and in-text descriptions, and statistical association testing, described in more detail below. On survey items that had missing responses, calculations were performed on available data only. Where \u0026ldquo;I don\u0026rsquo;t know\u0026rdquo; or \u0026ldquo;Not relevant\u0026rdquo; were possible answer options, these were not treated as missing data but were instead reported. Likert items were dichotomized where applicable i.e. combining \u0026ldquo;high\u0026rdquo; and \u0026ldquo;very high.\u0026rdquo;\u003c/p\u003e\n\u003cp\u003eA Clinical Geneticist (MJS) labelled respondents according to the diagnosis provided as having the following yes/no/in some cases: motor impairment, intellectual disability, a complex syndrome (defined as a condition impacting more than three organ systems), and a known genetic cause using several resources like \u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003eOrphanet.org\u003c/span\u003e, \u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003eOMIM.org\u003c/span\u003e and \u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003epubmed.ncbi.nlm.nih.gov\u003c/span\u003e (Date 241101). Respondents were also labelled according to the usual age of onset. The clinician-defined variables \u003cem\u003emotor impairment\u003c/em\u003e, \u003cem\u003eintellectual disability\u003c/em\u003e, and \u003cem\u003ecomplex syndrome\u003c/em\u003e as well as the respondent-reported variables \u003cem\u003eproportion of care within primary care\u003c/em\u003e and \u003cem\u003elength of diagnosis journey\u003c/em\u003e were pre-selected by all authors as grouping variables to form a basis of the comparative analysis. Associations between these participant group characteristics and four outcome variables \u0026mdash; trust in healthcare providers (HCPs), trust in primary care (PC), trust in the healthcare system (HC), and perceived extent to which care needs were met \u0026mdash; were examined using chi-square tests of independence by JLL. For each grouping variable \u0026times; outcome combination, contingency tables were produced and Pearson\u0026rsquo;s chi-square statistic (\u0026chi;\u0026sup2;), degrees of freedom (df), sample size (N), and effect size (Cram\u0026eacute;r\u0026rsquo;s V) were reported. Effect sizes were interpreted according to Cohen\u0026rsquo;s guidelines (small \u0026asymp; .10, medium \u0026asymp; .30, large \u0026asymp; .50).\u003c/p\u003e\n\u003cp\u003eTo explore the nature of significant associations, standardized residuals were examined for each cell. Standardized residuals \u0026ge; |2| were interpreted as indicating a meaningful deviation from the expected frequency under the null hypothesis, with positive values representing overrepresentation and negative values representing underrepresentation. Given the large number of comparisons (8 grouping variables \u0026times; 4 outcome variables), p-values from the chi-square tests were adjusted for multiple testing using the Benjamini\u0026ndash;Hochberg false discovery rate (FDR) procedure. Both unadjusted and FDR-adjusted p-values are reported, with statistical significance set at \u0026alpha;\u0026thinsp;=\u0026thinsp;.05 (two-tailed). Analyses were conducted in JASP (version 0.19.1) under the Contingency Tables module.\u003c/p\u003e\n\u003cp\u003eCompliance with Ethics Guidelines\u003c/p\u003e\n\u003cp\u003eScientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01-435533). The survey responses were anonymous.\u003c/p\u003e\n\u003cp\u003eAll procedures followed were in accordance with the ethical standards of the responsiblecommittee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003eSurvey results were translated and described below. As the questions were skippable, the number of respondents varied from question to question, and the respondents (\u003cem\u003en\u003c/em\u003e) are presented in a table or else in text (xx/xx).\u003c/p\u003e\n\u003cp\u003eCharacteristics, \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;942\u003c/p\u003e\n\u003cp\u003eJust over half 56% (528/940) reported living with a RD, and 55% (517/940) answered the survey for themselves (see Table \u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e). Just under half (44.4%, 417/940) were next of kin responding on behalf of a person living with an RD (PLWRD). 12.4% (116/940) were both PLWRD and next of kin to a PLWRD.\u003c/p\u003e\n\u003cp\u003eA surplus of respondents were women (58.8%). The vast majority (96.1%) were born in Sweden and a third were 55 or older (33.3%). Over a third (38.64%) were employed; a quarter (25%) were in school, and 14.9 were unemployed.\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eSociodemographic characteristics.\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"4\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e\n \u003cp\u003e\u003cstrong\u003eRespondent type\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;940)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003eCount\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e%\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePatient answering for self\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e410\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e43.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePatient and caregiver, answering for self\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e107\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e11.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eCaregiver answering for loved one\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e408\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e43.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePatient and caregiver answering for loved one\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eGender\u003c/strong\u003e (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;942)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eWoman\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e554\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e58.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMan\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e367\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e39\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eOther \u003csup\u003e1\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e0.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eDon\u0026rsquo;t want to specify / Missing\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eAge\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;940)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e6 years or younger\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e7\u0026ndash;11 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e77\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e8.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e12\u0026ndash;18 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e79\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e8.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e19\u0026ndash;24 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e58\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e25\u0026ndash;34 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e115\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e12.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e35\u0026ndash;44 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e106\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e11.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e45\u0026ndash;54 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e126\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e13.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e55\u0026ndash;64 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e149\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e15.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e65\u0026ndash;74 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e114\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e12.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e75 years or older\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eCountry of birth\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;936)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSweden\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e899\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e96.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNorthern Europe (not Sweden)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eEurope (not Northern)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eGlobal (not Europe)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eHighest level of education\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;937)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eCurrently in pre-/primary school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e107\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e11.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePrimary school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e69\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e7.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSpecial education, Primary school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e4.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSecondary education/High school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e228\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e24.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSpecial education, Secondary/High school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e83\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e8.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eHigher education/University/College\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e322\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e34.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eOther\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e76\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e7.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eEmployment status\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;779)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eEmployed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e301\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e38.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eUnemployed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e116\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eIn pre-school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e31\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eIn school\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e195\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e25\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eOther education\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e1.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e2.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eGeographical distribution corresponded with the country\u0026rsquo;s population density and with the distribution of members in \u003cem\u003eRare Diseases Sweden\u003c/em\u003e, with nearly a quarter in Stockholm region (24.8%, 234/941) followed by 16.5% in Western G\u0026ouml;taland (155/941), and 10.4% in Scania (Sk\u0026aring;ne) (98/941).\u003c/p\u003e\n\u003cp\u003eOver a third (298/834, 35.7%) rated their health as 4 or below on a scale of 1\u0026ndash;10 with lower being poorer, while the majority rated it as 5 or above (536/834, 64.3%). As for the extremes, 2.8% (23/834) reported their health as \u0026ldquo;poor\u0026rdquo; and 8.4% (70/834) rated their health as \u0026ldquo;excellent.\u0026rdquo;\u003c/p\u003e\n\u003cp\u003eClinician-based (MJS) grouping based on the participants stated diagnosis:\u003c/p\u003e\n\u003cp\u003e\u003cspan\u003e\u003c/span\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e1. Motor impairment\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;185): Only a small portion (19.7%, 185/938) have a diagnosis that commonly or always results in motor impairment.\u003c/p\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e2. Intellectual disability\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;306): About a third of diseases commonly or always result in intellectual disability (32.6%, 306/940).\u003c/p\u003e\n\u003c/span\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e3. Complex syndrome\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;448): Classification based on diagnosis impacting more than three organ systems (47.7%, 448/939). However, participants also self-reported whether or not their RD impacted more than one organ system (65.7%, 616/935).\u003c/p\u003e\n\u003c/span\u003e\n\u003cp\u003e\u003c/p\u003e\n\u003cp\u003eRespondent-based grouping:\u003c/p\u003e\n\u003cp\u003eThese additional grouping were based on respondents reporting:\u003c/p\u003e\n\u003cp\u003e\u003cspan\u003e\u003c/span\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e4. Especially short diagnostic journey\u003c/strong\u003e (Time to diagnosis\u0026thinsp;\u0026lt;\u0026thinsp;6 months) (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;344)\u003c/p\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e5. Especially long diagnostic journey\u003c/strong\u003e (Time to diagnosis\u0026thinsp;\u0026lt;\u0026thinsp;10 years) (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;101)\u003c/p\u003e\n\u003c/span\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e6. Large proportion of care with primary care\u003c/strong\u003e (More than half) (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;204)\u003c/p\u003e\n\u003c/span\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e7. Small proportion of care in primary care\u003c/strong\u003e (Less than half) (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;326)\u003c/p\u003e\n\u003c/span\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e8. Had contact with an expert in their RD\u003c/strong\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;666)\u003c/p\u003e\n\u003c/span\u003e\n\u003cp\u003e\u003c/p\u003e\n\u003cp\u003eThese groupings were used for analysis of proportion of care within primary care, whether care needs are met, and trust for healthcare, HCPs, and primary care professionals, see below.\u003c/p\u003e\n\u003ch3\u003eDiagnosis journey\u003c/h3\u003e\n\u003cp\u003eMost (99.7, 939/942) responded that they have a clinical diagnosis, though all 942 provided a specific diagnosis in the question asking what RD(s) they were diagnosed with.\u003c/p\u003e\n\u003cp\u003eAge at Diagnosis\u003c/p\u003e\n\u003cp\u003eThe largest group of respondents were diagnosed as adults (44.4%, 516/938), followed by during childhood (27.9%, 262/938) and at birth (16.7%, 157/938). The remaining were diagnosed during pregnancy, as a teen, \u0026ldquo;other,\u0026rdquo; or were unsure.\u003c/p\u003e\n\u003cp\u003eRespondents\u0026rsquo; reported age of diagnoses was compared with the usual age of onset for their given disease as classified by clinician MJS (Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e). Each specific disease was reviewed in regard to common symptoms, severity, and if any causative genes have been identified, using relevant scientific websites and databases (see methods). The timeframes generally aligned, with most respondents with a congenital disease having been diagnosed at birth, otherwise as a toddler, and the vast majority of those who would be expected to show symptoms in adulthood having been diagnosed in adulthood.\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eUsual age of disease onset compared to actual age diagnosed\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"5\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eThe usual age of onset for the reported diagnosis\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eCongenital/\u003c/p\u003e\n \u003cp\u003eNewborn\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;216\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003eToddler\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;122\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eAdulthood, \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;37\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eVaries,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;562\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eActual age at respondent\u0026rsquo;s diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eDuring pregnancy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e3.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e1.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eAt birth\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e46.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e12.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eChildhood\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e34.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e65.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eTeenage\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e2.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e3.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eAdulthood\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e86.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e62.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eTime to diagnosis\u003c/p\u003e\n\u003cp\u003eNearly half of respondents were diagnosed within a year from their first point of contact with healthcare (47.2%, 939), and over one third were diagnosed in under 6 months (36.6%, \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;939). For 1 in 10 respondents, it took over 10 years to get their diagnosis (10.8%, \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;939).Table\u0026nbsp;\u003cspan refid=\"Tab4\" class=\"InternalRef\"\u003e4\u003c/span\u003e presents the percentage diagnosed within a certain timeframe (columns) according to the usual age of onset (rows); the usual age of onset was determined by clinician MJS. The analysis found that respondents with a diagnosis typical of a younger age of onset tended to have a shorter diagnosis timeline.\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab4\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 4\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eTime to diagnosis reported according to usual age of onset\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"5\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eThe usual age of onset for the reported diagnosis\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eCongenital/\u003c/p\u003e\n \u003cp\u003enewborn,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;214 (%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003eToddler,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;122\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eAdulthood,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;37\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eVaries,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;562\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eTime to receive a diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u0026lt;\u0026thinsp;6 months\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e49.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e33.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e27\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e33\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e7\u0026ndash;11 months\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e18.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e11.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e1\u0026ndash;2 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e5.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e17.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e5.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e11.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e3\u0026ndash;4 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e9.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e8.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e10.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e4\u0026ndash;10 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e7.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e13.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e10.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e8.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u0026gt;\u0026thinsp;10 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e6.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e8.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e13.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eOther\u003c/em\u003e or \u003cem\u003edon\u0026rsquo;t know\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e14.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e12.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003e18.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e13.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eTable\u0026nbsp;\u003cspan refid=\"Tab5\" class=\"InternalRef\"\u003e5\u003c/span\u003e. presents the percentage diagnosed within a certain timeframe (rows) according to the grouping (columns) regarding assumed diagnose impact was determined by clinician MJS. The analysis found that roughly one third of all groups were diagnosed in under six months and another 10% within 7\u0026ndash;11 months.\u003c/p\u003e\n\u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab5\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 5\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eTime to diagnosis by group (according to the labeled groups, page 10)\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"7\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eGrouping/ Labelling\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMotor impair- ment\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;184\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003eIntellec-\u003c/p\u003e\n \u003cp\u003etual disability \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;305\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eComplex syndrome \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;446\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eOver half of care in PC,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;203\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eUnder half of care in PC\u003c/p\u003e\n \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;325\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c7\"\u003e\n \u003cp\u003eAll\u003c/p\u003e\n \u003cp\u003eN\u0026thinsp;=\u0026thinsp;939\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eTime to receive a diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c7\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u0026lt;\u0026thinsp;6 months\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e31.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e35.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e41.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e36\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e42.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e36.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e7\u0026ndash;11 months\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e8.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e9.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e8.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e9.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e10.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e10.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e1\u0026ndash;2 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e14.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e14.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e12.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e8.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e12.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e10.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e3\u0026ndash;4 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e9.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e11.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e8.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e10.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e9.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e8.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e4\u0026ndash;10 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e10.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e9.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e11.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e7.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e9.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u0026gt;\u0026thinsp;10 years\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e9.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e6.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e5.61\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e11.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e10.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eOther\u003c/em\u003e or \u003cem\u003edon\u0026rsquo;t know\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003e14.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e11.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\n \u003cp\u003e13.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003e12.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003e9.23\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e13.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eGenetic Testing\u003c/p\u003e\n\u003cp\u003eClinician MJS performed a classification of given RD diagnoses, with regards to whether or not the diagnosis has a known genetic cause (including also cases where genetic cause is known for \u003cem\u003esome\u003c/em\u003e subtypes). According to this classification, a large portion of RDs provided by respondents have a known genetic cause (82%, 770/939). However, only 446 of \u003cem\u003eall\u003c/em\u003e respondents received genetic testing as part of the diagnosis process, which resulted in the diagnosis of one or more RDs for 76.1% (335/440), see Fig. \u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e3\u003c/span\u003e. Again, considering MJS\u0026rsquo; classification of whether or not the diagnosis has a known genetic cause, we found that 54.4% (419/770) of those (770) with a diagnosis with a known genetic cause underwent genetic testing. Of the small percentage for which there is no known genetic cause, 14.2% (24/169) reported having carried out genetic testing.\u003c/p\u003e\n\u003cp\u003eOf those who reported having been diagnosed with one or more RDs via genetic testing (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;335), over a third (38.9%, 130/335) reported that they were diagnosed in childhood and roughly as many (38.3%, 128/335) were diagnosed in adulthood. The next largest group (12.3%) was diagnosed at birth.\u003c/p\u003e\n\u003cp\u003eThose who were not offered genetic testing (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;443) were asked whether they would have liked it, of which 35% (155/443) reported that they did. Out of those 155, only 33 have a diagnosis with a known genetic cause. Additionally, 77 individuals have a disease where genetic causes are known only for some subtypes.\u003c/p\u003e\n\u003ch3\u003eDisease Impact\u003c/h3\u003e\n\u003cp\u003eA large portion (39.2%, 361/921) spend an hour or less per week in healthcare or self-managing their RD(s). However, 19.5% (178/921) spend over five hours a week. Only about half (53.5%, 223/417) of caregivers worked/studied full-time (100%), of which 16.1% (64/397) reported reduced hours (\u0026lt;\u0026thinsp;100%) were due to their role as a caregiver to someone with a RD.\u003c/p\u003e\n\u003cp\u003eThe majority (67.4%, 314/467) of those answering from the patient perspective reported that they work/study reduced hours (\u0026lt;\u0026thinsp;100%) due to their RD. The number of participants who reported working reduced work hours did not differ noteworthy between groups intellectual disability, motor impairment, complex syndrome and length of diagnosis journey.\u003c/p\u003e\n\u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\n \u003ch2\u003eHealthcare Use\u003c/h2\u003e\n \u003cp\u003eDifferences exist in how individuals\u0026rsquo; healthcare is distributed and organized. Important variables are proportion of healthcare being provided by in primary care, access to experts/specialists on the RD, and access to supporting services like care coordinators for increased continuity and coordination. An overview of reported distribution of these services is provided in Table\u0026nbsp;\u003cspan refid=\"Tab6\" class=\"InternalRef\"\u003e6\u003c/span\u003e.\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab6\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 6\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eUtilization and experience of healthcare.\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003ccolgroup cols=\"3\"\u003e\u003c/colgroup\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e\n \u003cp\u003e\u003cstrong\u003eProportion of care in primary care\u003c/strong\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;936)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eCount\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003e%\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMore than half\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e204\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e21.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMixed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e164\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e17.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eLess than half\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e326\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e34.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003eNot relevant\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e130\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e25.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eNumber of care coordinators you have access to\u003c/strong\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;937)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMultiple\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e423\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e45.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eOne\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e209\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e22.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNone, but I need one\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e131\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e14.0\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNone, and not needed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e69\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eWhat is a care coordinator?\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e3.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNot relevant\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e3.0\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e69\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e7.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eWho is/are your care coordinator(s)\u003c/strong\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;634) *\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMD in primary care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e207\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e32.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eMD in other specialty care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e524\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e82.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNurse in primary care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e75\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e11.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNurse in other specialty care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e178\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e28.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePsychologist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e54\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e8.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eSocial worker\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e69\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e10.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003ePhysiotherapist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e184\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e29.0\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eOther\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e77\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e12.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cstrong\u003eUsefulness of care coordinator(s)\u003c/strong\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;625)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eYes, they are helpful in coordinating my care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e228\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e36.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eNo, they are not helpful in coordinating my care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e158\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e25.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e, \u003cem\u003eNot relevant\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\n \u003cp\u003e239\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e38.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cem\u003e*\u003c/em\u003e Multiple-choice question, so percentages will not add up to 100%.\u003c/p\u003e\n \u003cp\u003eParticipants reported a high number of healthcare visits across multiple levels of the healthcare sector, with 60\u0026ndash;70% of respondents across healthcare levels indicating at least one visit to each of the seven healthcare system levels over the past six months (see Fig. \u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e5\u003c/span\u003e). Most visits were in-person primary care. Overall, 70.6% of participants reported one or more primary care visits, with rates differing by group: 65.5% among respondents living with a syndrome and 75.2% among those with a motor disability. In contrast, very few digital visits were reported.\u003c/p\u003e\n \u003cp\u003eA minority (20%) of respondents reported that their healthcare was mainly situated within primary care, see Table \u003cspan refid=\"Tab6\" class=\"InternalRef\"\u003e6\u003c/span\u003e. This remains true within the individual levels of eight groupings (defined above e.g., motor impairment, intellectual disability, complex syndrome) as well (range 20%-24%). Chi-square tests of independence found a significant association between time to diagnosis and the proportion (under/over half, mixed) of care delivered in primary care, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;337)\u0026thinsp;=\u0026thinsp;15.21, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.026, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.21. Those diagnosed after 10 years were more likely than expected to report mixed care (SR\u0026thinsp;=\u0026thinsp;3.53) and less likely to report under half of care in PC (SR = \u0026minus;\u0026thinsp;3.26). Respondents diagnosed within six months were more likely than expected to report under half of their care in primary care (SR\u0026thinsp;=\u0026thinsp;3.26) and less likely to report mixed care (SR = \u0026minus;\u0026thinsp;3.53). No pattern found in relation to having majority of care in PC.\u003c/p\u003e\n \u003cp\u003eSeven out of ten reported that they have been in contact with an expert on their RD (at any given time). This number is the lowest among those with an intellectual disability (61.65%) and those with a long (\u0026gt;\u0026thinsp;10 year) diagnosis (61.39%). Most (139/204, 68.15%) of respondents with over half of care in PC had consulted an expert \u003cstrong\u003e(\u003c/strong\u003eFig. \u003cspan refid=\"Fig5\" class=\"InternalRef\"\u003e6\u003c/span\u003e\u003cstrong\u003e)\u003c/strong\u003e, as had most (248/326, 76.07%) of those with less than half of care in PC. Although the association between expert contact and the proportion of care delivered in primary care reached nominal significance, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;690)\u0026thinsp;=\u0026thinsp;7.30, p\u0026thinsp;=\u0026thinsp;0.03, it did not remain significant after false discovery rate correction (FDR-adjusted p = .52, Cramer\u0026rsquo;s V = .10). Nevertheless, respondents with an expert contact were more likely to report a minority (\u0026lt;\u0026thinsp;50%) of care within PC (SR\u0026thinsp;=\u0026thinsp;2.65), whereas those without or unsure about expert contacts were less likely to have (SR = \u0026minus;\u0026thinsp;2.65).\u003c/p\u003e\n \u003cp\u003eLess than half (47.5%) stated that they have care coordinator with a HCP for continuity and/or help with coordinating care, of which the majority (82.7%) have a physician in a specialty other than primary care, and about a third have a primary care physician (32.7%), a nurse in another specialty (28.1%), and a physiotherapist (29%). A quarter (25.3%) of those with a care coordinator did not feel that their care coordination was helpful (Table \u003cspan refid=\"Tab6\" class=\"InternalRef\"\u003e6\u003c/span\u003e).\u003c/p\u003e\n\u003c/div\u003e\n\u003ch3\u003ePerceptions of healthcare\u003c/h3\u003e\n\u003cp\u003eFewer than a third (29.9%, 280/936) responded that the level of knowledge within healthcare is sufficient to provide the correct treatment/follow-up for their RD, and just over half (51.4%, 481/936) responded that the knowledge within healthcare does not suffice. Only 11.7% (109/934) felt there is adequate support from healthcare and public services as they age, although the majority responded that they were unsure (59.3%, 554/934).\u003c/p\u003e\n\u003ch3\u003eCare needs met across groups\u003c/h3\u003e\n\u003cp\u003eMost participants (80.2%, 741/926) reported that their care needs were mostly or always met. The highest levels reported were by those who have met an expert in their RD (85%). Around 80% of all groups were mostly/always satisfied with their care. In contrast, 17.3% indicated that their needs were not met (see Fig. \u003cspan refid=\"Fig6\" class=\"InternalRef\"\u003e7\u003c/span\u003e).\u003c/p\u003e\n\u003cp\u003eThe group that reported the lowest satisfaction of care needs being met (56.6%, Fig. \u003cspan refid=\"Fig6\" class=\"InternalRef\"\u003e7\u003c/span\u003e) was those who waited over 10 years for a diagnosis. These participants were diagnosed with a range of 41 different diagnoses, though four were listed more frequently, namely: mast cell diseases (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;13), Poland\u0026apos;s syndrome, (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;12), dystonia (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;11), and Morbus Osler (HHT) (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;10). Chi-square tests of independence found a strong association between diagnosis length and reported care needs, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;438)\u0026thinsp;=\u0026thinsp;45.94, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.013, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.32. Respondents with a long diagnosis journey (\u0026gt;\u0026thinsp;10 years) were more likely than statistically expected to report unmet/rarely met needs (SR\u0026thinsp;=\u0026thinsp;6.77) and less likely to report mostly/always met needs (SR = \u0026minus;\u0026thinsp;6.59). Those diagnosed within 6 months showed the opposite pattern, and were more likely to report that their care needs were mostly/always met (SR\u0026thinsp;=\u0026thinsp;6.59) and less likely to report unmet/rarely met (SR = \u0026minus;\u0026thinsp;6.77).\u003c/p\u003e\n\u003cp\u003eThere were also significant associations for having a complex syndrome, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;923)\u0026thinsp;=\u0026thinsp;17.90, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.009, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.14, where respondents with a complex syndrome were more likely than expected to report that their care needs were met (SR\u0026thinsp;=\u0026thinsp;4.23) and less likely to report their needs as unmet (SR = \u0026minus;\u0026thinsp;3.97).\u003c/p\u003e\n\u003cp\u003eRespondents\u0026rsquo; proportion of care within primary care was also significant, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;523)\u0026thinsp;=\u0026thinsp;10.65, p\u0026thinsp;=\u0026thinsp;0.005, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.01, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.14. Respondents whose care was mostly within PC were overrepresented in reporting that their needs were not/rarely met (SR\u0026thinsp;=\u0026thinsp;2.86) and underrepresented in reporting mostly/always (SR\u0026thinsp;=\u0026thinsp;\u0026minus;\u0026thinsp;3.20). The largest association was, however, whether respondents had seen an expert, \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;923)\u0026thinsp;=\u0026thinsp;29.50, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.005, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.18. Respondents with an expert contact were underrepresented in reporting that their care needs were not/rarely met (SR\u0026thinsp;=\u0026thinsp;\u0026minus;\u0026thinsp;5.07) and overrepresented in their needs being met (SR\u0026thinsp;=\u0026thinsp;5.43). In contrast, those lacking an expert contact were overrepresented in reporting that their care needs were not/rarely met (SR\u0026thinsp;=\u0026thinsp;5.43) and underrepresented in reporting their needs mostly/always met (SR\u0026thinsp;=\u0026thinsp;\u0026minus;\u0026thinsp;4.07).\u003c/p\u003e\n\u003cp\u003eNo significant associations for motor impairment \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;922)\u0026thinsp;=\u0026thinsp;1.81, p\u0026thinsp;=\u0026thinsp;0.40, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.45, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.04. or intellectual disability \u0026chi;\u0026sup2;(2, N\u0026thinsp;=\u0026thinsp;924)\u0026thinsp;=\u0026thinsp;0.21, p\u0026thinsp;=\u0026thinsp;0.90, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.90, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.01 were observed.\u003c/p\u003e\n\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\n \u003cp\u003eTrust\u003c/p\u003e\n \u003cp\u003eParticipants were asked to rate their level of trust in (1) healthcare services in general (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e) healthcare professionals in general, and (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e) primary care professionals (Figs. \u003cspan refid=\"Fig7\" class=\"InternalRef\"\u003e8\u003c/span\u003e\u0026ndash;\u003cspan refid=\"Fig9\" class=\"InternalRef\"\u003e10\u003c/span\u003e). Over half of respondents in all groups except those with a 10\u0026thinsp;+\u0026thinsp;years diagnosis journey reported high/very high trust in services, and over half of all groups did for HCPs. In general, HCPs received higher trust than HC services.\u003c/p\u003e\n \u003cp\u003eTrust in Healthcare (HC)\u003c/p\u003e\n \u003cp\u003eTo further investigate participant group differences, chi-square tests of independence were conducted on reported trust in healthcare. There was a significant association between having a complex syndrome and level of trust, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;929)\u0026thinsp;=\u0026thinsp;14.68, p\u0026thinsp;=\u0026thinsp;0.005, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.01, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.13. Respondents with a diagnosis classified by our clinician as complex, were less likely than expected to report little/very little trust (SR = \u0026minus;\u0026thinsp;2.57) and more likely to report don\u0026rsquo;t know/not relevant (SR\u0026thinsp;=\u0026thinsp;2.82). Conversely, those where the classification of the diagnosis was less complex or unknown, respondents were more likely to report little/very little trust (SR\u0026thinsp;=\u0026thinsp;2.47).\u003c/p\u003e\n \u003cp\u003eTime to diagnosis was also significant, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;440)\u0026thinsp;=\u0026thinsp;40.15, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.005, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.30, indicating that a shorter diagnostic timeline was associated with higher trust. Respondents diagnosed within six months were overrepresented in high/very high trust category (SR\u0026thinsp;=\u0026thinsp;4.51), whereas those diagnosed after 10 years were overrepresented in the little/very little trust category (SR\u0026thinsp;=\u0026thinsp;4.39). Analysis was restricted to long vs short diagnosis groups; participants with medium-length diagnoses were excluded.\u003c/p\u003e\n \u003cp\u003eFinally, having had an expert contact showed the strongest association, \u0026chi;\u0026sup2;(16, N\u0026thinsp;=\u0026thinsp;930)\u0026thinsp;=\u0026thinsp;37.49, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.004, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.20. Standardized residuals indicated that participants with an expert contact were more likely than expected to report high/very high trust in healthcare (SR\u0026thinsp;=\u0026thinsp;5.15) and less likely to report little/very little trust (SR = \u0026minus;\u0026thinsp;3.52) or neutral (SR = \u0026minus;\u0026thinsp;2.52), whereas those who lacked an expert showed the opposite trend (SRs = \u0026minus;\u0026thinsp;5.15, 3.33).\u003c/p\u003e\n \u003cp\u003eNo significant associations were observed for motor impairment \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;928)\u0026thinsp;=\u0026thinsp;5.62, p\u0026thinsp;=\u0026thinsp;0.23, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.331, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.08, intellectual disability \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;930)\u0026thinsp;=\u0026thinsp;3.69, p\u0026thinsp;=\u0026thinsp;0.45, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.532, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.06, or proportion of care in primary care \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;525)\u0026thinsp;=\u0026thinsp;1.40, p\u0026thinsp;=\u0026thinsp;0.84, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.874, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.05.\u003c/p\u003e\n \u003cp\u003eTrust in Healthcare Professionals (HCPs)\u003c/p\u003e\n \u003cp\u003eIn regard to HCPs, level of trust was significantly associated with time to diagnosis, \u0026chi;\u0026sup2;( 4, N\u0026thinsp;=\u0026thinsp;434)\u0026thinsp;=\u0026thinsp;30.33, p\u0026thinsp;\u0026lt;\u0026thinsp;0.001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.004, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.26. Those diagnosed within 6 months reported higher-than-expected trust (SR\u0026thinsp;=\u0026thinsp;4.02) and lower-than-expected reports of little/very little trust (SR = \u0026minus;\u0026thinsp;3.69). In contrast, those with a long (\u0026gt;\u0026thinsp;10 years) diagnostic delay reported the opposite trend (SRs = \u0026minus;\u0026thinsp;4.02, 3.69).\u003c/p\u003e\n \u003cp\u003eRespondents\u0026rsquo; complex syndrome status (Yes vs. No/Unknown) was also significantly associated with reported trust, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;918)\u0026thinsp;=\u0026thinsp;16.22, p \u0026lt; .01, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.019, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.13. Standardized residuals indicated that participants without a complex syndrome had higher-than-expected reports of little trust (SR\u0026thinsp;=\u0026thinsp;3.06), whereas participants with a complex syndrome had lower-than-expected reports of little trust \u003cstrong\u003e(\u003c/strong\u003eSR = \u0026minus;\u0026thinsp;3.06).\u003c/p\u003e\n \u003cp\u003eThe largest effect observed was, again, with having an expert contact (or not), \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;919)\u0026thinsp;=\u0026thinsp;54.91, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.003, Cramer\u0026rsquo;s \u003cem\u003eV\u003c/em\u003e\u0026thinsp;=\u0026thinsp;0.24. Those \u003cem\u003ewith\u003c/em\u003e an expert contact were more likely than expected to report high/very high trust (SR\u0026thinsp;=\u0026thinsp;6.29) and less likely than expected to report little/very little trust (SR = \u0026minus;\u0026thinsp;4.69) or no trust at all (SR = \u0026minus;\u0026thinsp;3.96). Those \u003cem\u003ewithout\u003c/em\u003e an expert contact were more likely to report no (SR\u0026thinsp;=\u0026thinsp;3.96) or little/very little trust (SR\u0026thinsp;=\u0026thinsp;4.69) and less likely to report high trust (SR = \u0026minus;\u0026thinsp;6.29).\u003c/p\u003e\n \u003cp\u003eThose \u003cem\u003ewith\u003c/em\u003e an expert contact were more likely than expected to report high/very high trust (SR\u0026thinsp;=\u0026thinsp;6.29) and less likely than expected to report little/very little trust (SR = \u0026minus;\u0026thinsp;4.69) or \u003cstrong\u003eno\u003c/strong\u003e trust at all (SR = \u0026minus;\u0026thinsp;3.96). Those opposite trend was found for those \u003cem\u003ewithout\u003c/em\u003e an expert contact (SRs = \u0026minus;\u0026thinsp;6.29, 3.96, 4.69).\u003c/p\u003e\n \u003cp\u003eNo significant associations were found for motor impairment, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;917)\u0026thinsp;=\u0026thinsp;2.24, p\u0026thinsp;=\u0026thinsp;0.69, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.748, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.05, intellectual disability, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;919)\u0026thinsp;=\u0026thinsp;4.46, p\u0026thinsp;=\u0026thinsp;0.35, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.455, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.07, or whether participants received a majority or minority of care in primary care, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;522)\u0026thinsp;=\u0026thinsp;2.31, p\u0026thinsp;=\u0026thinsp;0.69, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.748, Cramer\u0026rsquo;s V\u0026thinsp;=\u0026thinsp;0.07. Standardized residuals did not indicate any cells higher or lower-than-expected.\u003c/p\u003e\n \u003cp\u003eTrust in Primary Care Professionals\u003c/p\u003e\n \u003cp\u003eThe third form of trust evaluated was trust in primary care professionals. The proportion of care provided in primary care was significantly associated with trust in primary care professionals, \u0026chi;\u0026sup2;(20, N\u0026thinsp;=\u0026thinsp;5230)\u0026thinsp;=\u0026thinsp;24.59, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.003, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.22. Those whose care was mostly in primary care had higher-than-expected trust in primary care professionals (SR\u0026thinsp;=\u0026thinsp;4.69) and lower-than-expected reports of having little/very little trust (SR = \u0026minus;\u0026thinsp;3.34). In contrast, those with under half of care in primary care showed lower-than-expected trust (SR = \u0026minus;\u0026thinsp;4.69) and reported higher-than-expected low trust (SR\u0026thinsp;=\u0026thinsp;3.34).\u003c/p\u003e\n \u003cp\u003eTime to diagnosis was associated with trust \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;436)\u0026thinsp;=\u0026thinsp;20.13, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.003, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.21, where those with a short diagnosis journey were more likely to report high/very trust (SR\u0026thinsp;=\u0026thinsp;2.14) or don\u0026rsquo;t know/not relevant (SR\u0026thinsp;=\u0026thinsp;2.90) and less likely to report little/very little trust for primary HCPs. (SR = \u0026minus;\u0026thinsp;2.38). Respondents with a long diagnosis timeframe showed the inverse trend (SR\u0026thinsp;=\u0026thinsp;2.38; \u0026minus;\u0026thinsp;2.14; \u0026minus;\u0026thinsp;2.90).\u003c/p\u003e\n \u003cp\u003eContact with an expert was also significantly related to trust in primary care professionals, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;923)\u0026thinsp;=\u0026thinsp;23.24, p \u0026lt; .001, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.002, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.16. Those who had contact with an expert were more likely to report high/very high trust in primary care professionals (SR\u0026thinsp;=\u0026thinsp;3.52) and less likely to report little/very little trust (SR = \u0026minus;\u0026thinsp;3.66) or no trust at all (SR = \u0026minus;\u0026thinsp;2.17). Conversely, those without an expert contact were more likely to report little/very little trust (3.66) and less likely to report high/very high trust (SR = \u0026minus;\u0026thinsp;3.52).\u003c/p\u003e\n \u003cp\u003eWhile the raw p-values suggested nominal significance between having a complex syndrome and trust in HC services (\u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;922)\u0026thinsp;=\u0026thinsp;9.566, p\u0026thinsp;=\u0026thinsp;0.05, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.10), these associations were not significant after controlling for multiple comparisons (FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.081). There were no significant associations observed for intellectual disability, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;923)\u0026thinsp;=\u0026thinsp;7.82, p\u0026thinsp;=\u0026thinsp;0.10, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.153, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.09, or motor disability, \u0026chi;\u0026sup2;(4, N\u0026thinsp;=\u0026thinsp;921)\u0026thinsp;=\u0026thinsp;4.63, p\u0026thinsp;=\u0026thinsp;0.33, FDR-adjusted p\u0026thinsp;=\u0026thinsp;0.331, Cramer\u0026apos;s V\u0026thinsp;=\u0026thinsp;0.07.\u003c/p\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eThe respondent group included a balanced proportion of people living with a RD (PLWRD) answering themselves and next of kin responding on behalf of an RD patient. This balance with the addition of those who answered from both perspectives, offers a more comprehensive understanding of the family system affected by an RD. It has previously been shown that living within a family with RD has implications for both the diagnosed individual, the parents, siblings, and the family system as a whole (Atkins and Padgett, 2024; Damen et al. 2022). The majority of the respondents had a higher educational level (more than one third had a university/college degree), which might on the other hand narrow down the general picture of the individuals and families affected by RDs and thereby decrease the generalizability from the results of this study. The high educational level of the respondents could be due to the fact that the survey only reached out to members of the patient organization \u0026ldquo;Rare diseases Sweden\u0026rdquo;, and that individuals with higher education are associated with higher health literacy higher capability of completing extensive surveys and greater health-engagement behaviors, and that is why individuals with higher education are more prone to fill in surveys and to engage with patient organizations in general (Ros\u0026aacute;rio et al, 2024). So, as the survey was quite extensive, it could be more eligible for higher educated individuals to respond to this survey, all resulting in a bias of respondents. Consequently, the results presented here may overestimate the quality of care for PLWRD in Sweden as educational level, health literacy and access to, and use of, high quality healthcare are correlated (Ros\u0026aacute;rio et al. 2024).\u003c/p\u003e \u003cp\u003eIn Sweden, healthcare is organized on the regional level, which contributes to unequal access to, for example, genetic testing, which can lead to injustices. The 21 regions are independent, with varying resources being located to genetic testing and specialty care. This leads to varying prioritization of and thereby injustice in (1) access to genetic testing (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e) access to treatment as to whether or not you have a genetically confirmed diagnosis (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e) access to support from society on different levels. However, several initiatives aim to reduce inequalities and promote justice for patients, including the national strategy for rare diseases currently under development and Genomic Medicine Sweden (GMS; Genomic Medicine Sweden | Improved diagnostics, care and treatment), which seeks to reduce regional disparities in access to genomic healthcare.\u003c/p\u003e \u003cp\u003eWithin our cohort, almost all reported that they/their next of kin had received a clinical diagnosis, and about one third had received a genetically verified diagnosis. Among the individuals who underwent a genetic test, four out of five received a genetic diagnosis. This is a higher level than the average diagnostic yield, which is approximately 20\u0026ndash;40% (reviewed in Tesi et al. 2023) with today's available genetic testing methods. This discrepancy could also be explained by the recruitment of respondents among the members of the patient organization \u003cem\u003eRare Diseases Sweden\u003c/em\u003e, as most people become members after the diagnosis already is defined. Another explanation could be that the cohort of this survey may have gotten their clinical diagnosis in a more recent time, when genetic and genomic testing is available to a larger extent.\u003c/p\u003e \u003cp\u003eThe length of the diagnostic journey was investigated in depth as not having a diagnosis could delay and impair correct care, treatment, and support. With over 8000 RD known today and diagnostic methods developing rapidly, this is a challenge for the HC system and patients. Long diagnostic journeys have been reported for people living with a rare disease (PLWRD) ranging between 5\u0026ndash;7 years (Faye et al. 2024, \u003cspan type=\"Underline\" class=\"Underline\" name=\"Emphasis\"\u003eRare Diseases Sweden member survey 2024\u003c/span\u003e). Our results are first to offer opportunities for looking deeper into which groups of PLWRD perceive the largest challenges and what consequences long waiting for correct diagnosis have on individuals. In our cohort, the majority received a diagnosis within 6 months to 1 year from the first contact with healthcare. This is mainly among individuals with a condition that has onset at a congenital or newborn age. RDs with congenital onset are diagnosed within six months in half of the cases, but the numbers drop to one third for onset as a toddler and varying onset, and to one fourth for onset in adulthood. In parallel, the number of individuals waiting for 4 years and more increases to about one fifth in the latter three groups. These results show that long diagnostic journeys are associated with diseases with later onset in life. This could partly be explained by that, congenital, newborn and childhood rare conditions are more often related to severe symptoms or being a syndrome, which could make it more \u0026ldquo;obvious\u0026rdquo; that it is a RD with a genetic cause, and therefore, a genetic test could be relevant for receiving a diagnosis, whereas adult-onset symptoms could be more subtle. Also, children are \u0026ldquo;automatically\u0026rdquo; followed at the child health centers (BVC) by routine protocols, for their development and thereby unusual development is more commonly detected. A comparison between subgroups of those being diagnosed within 6 months from first contact, show that having less than half of your healthcare contacts in primary care and having a complex syndrome increases the chance for having a shorter time to diagnosis, whereas having primarily motor impairment or isolated IF, more than half of your health care contact in primary care prolongs the time to diagnosis. Adult individuals do not have that \u0026ldquo;automatic\u0026rdquo; follow-up system by healthcare and must take the responsibility of contacting healthcare themselves, mostly through primary care. Adults\u0026rsquo; HC contacts are mostly in primary care, which does not have sufficient awareness, knowledge or established routines in their clinic to offer, and/or to refer for, genetic/genomic testing; nor is it within their scope or economic resources within the Swedish HC organization (1177.se, V\u0026aring;rdgarantin).\u003c/p\u003e \u003cp\u003eAnother reason for adults receiving no or late diagnosis could be that, at the time when their symptoms started, the methods for genetic testing were limited, and no follow up for new genetic testing has been offered or performed since then. Resources in the clinical genetic setting are also limited, so there is no routine pathway for automatically offering new genetic/genomic tests, recontacting patients, or offering a reanalysis of data. Thus, the possibility of being offered to reanalyze data and recontact is more dependent on the patient contacting the healthcare system or on the specific doctors\u0026acute; specific knowledge or update. Our results show that PLWRD have high HC needs, mirrored in the number of visits to HC services and amount of time invested in self-managing of their RD, both among care givers and PLWRD. Our results give valuable insight and incitement to investigate support needs that could free up resources among PLWRD or as next of kin. Another challenge for getting adequate HC for PLWRD is being dependent on primary HC. Due to the complexity, and lack of standard procedures for treatment of PLWRD, handling care for this patient group requires high flexibility and is often time consuming, which usually is hard to achieve in primary HC. The time at the appointment is limited for each patient and the patient is usually given the possibility to treat only one symptom during each visit, making it challenging for a person with a complex condition. Our results confirm this description, with respondents with most of the care in primary HC reporting their health needs being met to the lowest degree. In contrast, respondents diagnosed within six months were less likely to have most of the care in primary HC. This group also reported their health needs having been met to a higher degree.\u003c/p\u003e \u003cp\u003eIn Sweden, support systems exist for people with complex health challenges and high HC needs. Tools like care coordinators (fast v\u0026aring;rdkontakt) and multiprofessional patient rounds (MDT) are two examples which aim to improve treatment continuity and coordination of care. These solutions are legally anchored, but in reality, less than half of participants report having access (The Swedish Patient Act (Patientlagen)). This disparity in care despite legal measures may partly be explained by regional organization in the Swedish healthcare system where each health care region still makes their individual prioritization based on resources and ethical concerns. Within our cohort, it was less common among the adult-onset respondents to have a care coordinator. This is in line with the healthcare organization in Sweden, where pediatric care has a more holistic approach to the child\u0026acute;s health problems and care needs whereas adult care is more prone to be \u0026ldquo;silos\u0026rdquo; meaning that for different healthcare problems/symptoms form different organs are treated by separate specialties in healthcare where communication between these systems is often lacking. Our results indicate that focused commitment to making these solutions easily available for the vulnerable group of PLWRD can have a large and positive impact for the individual and society. Optimizing HC processes and support for this group can help ease burden on the individual but also for the HC system.\u003c/p\u003e \u003cp\u003eDevelopment of HC structures to improve HC for PLWRD therefore needs to focus on these patient groups and related HC services, maybe by primary healthcare centers focusing on RD patients allowing more support to the MDs and longer appointments for each individual when needed. In Sweden some regions already have this kind of centers, showing good results in meeting the healthcare needs for this group (1177.se, V\u0026aring;rdgarantin). In many countries centers for RDs are built up, not only for advocating better care, but also meeting these persons for a holistic evaluation (Eurordis-Position-Paper-Mental-Health-2024.pdf). To improve healthcare for RD patients, most countries in the European Union (EU), has a national strategy for RDs, (National plans or strategies for rare diseases: page updated - Public Health), but this is still lacking in Sweden. A strategy supports both economically and gives mandate to both authorities and healthcare providers to prioritize this patient group. This has, for example, resulted in EU supporting ERN-networks that collect experts from all European countries and collaborate in multiprofessional teams (European Reference Networks - Public Health - European Commission).\u003c/p\u003e \u003cp\u003e.\u003c/p\u003e \u003cp\u003eDespite high levels of HC contact and health needs, only 70% have been in contact with an expert on their RD, the lowest being among those with intellectual disabilities (by expert we are referring to a HC professional with satisfactory knowledge about the RDs, their treatment and follow-up). At the same time, access to expertise is strongly associated with reports of health needs being met as well as with higher trust in the HC system and HC professionals. It is striking though that more than two thirds of our cohort thinks that the knowledge about their or their child\u0026acute;s RD within healthcare is non-sufficient. In RDs, a specific expert/expert team is in many cases not available for the more than 8000 currently known RDs. Many times, there is no possibility to meet one expert covering all symptoms in a specific RD, but it is still possible they have met different healthcare providers with knowledge and expertise related to specific symptoms. International collaboration is therefore important. Current processes/work is being performed to better link international RD expertise and implement it into Swedish HC structures (European Reference Networks - Public Health - European Commission).\u003c/p\u003e \u003cp\u003eOf our study, most respondents, four out of five, state that their healthcare needs are met and over half state high trust in healthcare and healthcare providers. As above, individuals who met an expert have reported their healthcare needs met and felt trust in healthcare to the highest degree. However, there are groups of our cohort whose scores were lower than the overall majority. And there are three main reasons for not having care needs met and feeling trust. Having a complex syndrome, waiting longer than 10 years for a diagnosis and having most of their healthcare in primary care is correlated to not having care needs met and to lower trust in healthcare and healthcare providers.\u003c/p\u003e \u003cp\u003eThus, even if the most-part, in our cohort, receive a diagnose in a relatively short time, and only a small fraction has to wait long (more than 10 years for a diagnosis, it is here shown that decreasing time to diagnosis is of the highest importance for the individual, not only for achieving a diagnose to be able to have information on symptoms, prognosis and possible treatments, but in addition to help individuals to have their care needs met, and to increase their feeling of trust in healthcare.\u003c/p\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eLimitations\u003c/h2\u003e \u003cp\u003eThis survey presents perspectives of members of the \u003cem\u003eRare Diseases Sweden\u003c/em\u003e. As members, they are likely to have greater access to support services and health-related education compared to non-members. Consequently, people not included in this study may face even greater barriers in accessing and being satisfied with healthcare services. Additionally, it is possible that individuals who encounter difficulties or shortcomings within the healthcare system are more inclined to seek out such networks.\u003c/p\u003e \u003cp\u003eData was collected at the end of 2021, coming out of the COVID-19 pandemic, meaning that any influence the pandemic had would likely be reflected in the responses. Another aspect which may have changed for some RDs, though not all, is clinical knowledge, guidelines, and standard diagnosis/treatment (e.g. new genetic testing).\u003c/p\u003e \u003cp\u003eThe group labelling of respondents according to the diagnosis was done by a clinician using available data and referencing relevant clinical websites. Since there was no data available from the PLWRD\u0026rsquo;s medical journals and many RDs can have a very variable clinical picture and therefore some respondents might have been mislabeled, with the label reflecting the common presentation of that diagnosis rather than that of said individual. Also, we have excluded all respondents that have not specified their diagnosis. Survey questions were skippable, and answer options \u0026ldquo;not relevant,\u0026rdquo; \u0026ldquo;don\u0026rsquo;t know\u0026rdquo; and \u0026ldquo;prefer not to specify\u0026rdquo; meant that for some questions, too few responses were collected to draw any conclusions.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eUnexpectedly, half of PLWRD received a diagnosis within a year, and a majority of them reported high levels of care needs met and healthcare thrust. However, the group that had to wait over 10 years to receive a diagnosis showed low trust in healthcare, and low levels of care needs met. Also, not having met an expert was associated with low levels of care needs met and trust in healthcare. As two out of three experienced insufficient knowledge among healthcare providers about their RD, it is of great importance that awareness, knowledge and education related to RDs, as well as to genetics/genomics, will increase in all healthcare sectors, including primary care. It is also of great importance to invest in better diagnostics and development of, as well as availability to genomic testing. Results from our study need to be considered when decisions are being made about allocation of national resources, including a national strategy, to support PLWRD into the Swedish HC system.\u003c/p\u003e"},{"header":"Declarations","content":"\u003ch2\u003eData availability\u003c/h2\u003e\n\u003cp\u003eData used in this analysis is available upon request.\u003c/p\u003e\u003cp\u003e \u003ch2\u003eConflict of interest\u003c/h2\u003e \u003cp\u003eAll authors declare that they have no conflict of interests.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding\u003c/h2\u003e \u003cp\u003eParts of this research have been funded under the EDIH Health Data Sweden, EU grant 101083629\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eSJ contributed to the survey design and data collection. MJS and CIM contributed with survey questions related to genetic testing and diagnosis. All authors discussed and contributed to ideation. JLL conducted data analysis with ideas, input and discussion from all authors and constructed the figures/tables. All authors contributed to the writing of the manuscript and contributed revisions. All read,reviewed and approved the final manuscript.\u003c/p\u003e\u003ch2\u003eAcknowledgement\u003c/h2\u003e\u003cp\u003eWe thank the respondents for their time answering the survey. We thank the following collaborators for contributing towards the survey design: Center for Rare Diagnoses at Karolinska Institutet, LIF\u0026mdash;The Research-based Pharmaceutical Industry in Sweden, the Swedish Agency for Health Technology and Assessment of Social Services (SBU), the Dental and Pharmaceutical benefits agency (TLV), and Sweden\u0026rsquo;s three specialized dental care centers of rare conditions, the National Board of Health and Welfare (\u0026Aring;grenska), and the Swedish Agency for Health and Care Services (V\u0026aring;rdanalys). Parts of this research have been funded under the EDIH Health Data Sweden, EU grant 101083629. Charlotta Ingvoldstad Malmgren (CIM) wish to thank the Fondation Brocher of Hermance, Gen\u0026egrave;ve, Switzerland for hosting and funding the January 2025 workshop on Rare Disease Genomics and Justice. CIM also wish to acknowledge the additional financial support of the European Society of Human Genetics that supported travel and accommodation for some of the workshop participants\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003e1177.se. V\u0026aring;rdgaranti [Internet]. 2024. Available from: https://www.1177.se/sa-fungerar-varden/lagar-och-bestammelser/vardgaranti/#:~:text=Kontakt%20med%20prim%C3%A4rv%C3%A5rden%20samma%20dag,ett%20bes%C3%B6k%20eller%20ett%20videosamtal.\u003c/li\u003e\n \u003cli\u003eAtkins JC, Padgett CR (2024). Living with a rare disease: psychosocial impacts for parents and family members \u0026ndash; a systematic review.\u003cem\u003e\u0026nbsp;J Child Fam Stud.\u003c/em\u003e 33:617\u0026ndash;636.\u003c/li\u003e\n \u003cli\u003eBauskis A, Strange C, Molster C, Fisher C (2022) The diagnostic odyssey: insights from parents of children living with an undiagnosed condition. Orphanet J Rare Dis. 2022 17(1):233. doi: 10.1186/s13023-022-02358-x.\u003c/li\u003e\n \u003cli\u003eBriscoe S, Martin Pintado C, Sutcliffe K, Melendez-Torres GJ, Garside R, Lawal HM, Orr N, Shaw L, Thompson Coon J (2025) Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence. Orphanet J Rare Dis. 20(1):303. doi: 10.1186/s13023-025-03818-w.\u0026nbsp;\u003c/li\u003e\n \u003cli\u003eDamen I, Schippers A, Niemeijer A, Abma T (2022). Living with a rare disease as a family: a co‑constructed autoethnography from a mother. \u003cem\u003eDisabilities.\u003c/em\u003e 2022;2(2):348\u0026ndash;364.\u003c/li\u003e\n \u003cli\u003eEurordis. \u003cem\u003eWhat is a rare disease?\u003c/em\u003e What is a rare disease? - EURORDIS-Rare Diseases Europe (retrieved 2\u003csup\u003end\u003c/sup\u003e April, 2026)\u003c/li\u003e\n \u003cli\u003eEuropean Reference Networks - Public Health - European Commission (retrieved 2\u003csup\u003end\u003c/sup\u003e April, 2026)\u003c/li\u003e\n \u003cli\u003eFaye, F. \u003cem\u003eet al.\u003c/em\u003e (2024) Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. \u003cem\u003eEur J Hum Genet\u003c/em\u003e 32: 1116\u0026ndash;1126. doi.org/10.1038/s41431-024-01604-z\u0026nbsp;\u003c/li\u003e\n \u003cli\u003eFerreira CR (2019) The burden of rare diseases. Am J Med Genet A. 2019 179(6):885-892. doi: 10.1002/ajmg.a.61124 GMS; Genomic Medicine Sweden | Improved diagnostics, care and treatment (retrieved 2\u003csup\u003end\u003c/sup\u003e April, 2026).\u003c/li\u003e\n \u003cli\u003eHemmesch A. R., Bogart K. R., Barnes E.\u003cem\u003e\u0026ldquo;Lack\u0026rdquo; and \u0026ldquo;Finally\u0026rdquo;: A qualitative analysis of barriers and facilitators in rare disease healthcare.\u0026nbsp;\u003c/em\u003eInternational Journal of Environmental Research and Public Health. 2025;22(1):117.\u003c/li\u003e\n \u003cli\u003eLuckhaus J, Charlotta Ingvoldstad Malmgren\u003csup\u003e\u0026nbsp;\u003c/sup\u003eC, Blom P, Juran S, Johansson Soller M, Kharko A (2025) Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey. https://doi.org/10.21203/rs.3.rs-6334393/v1s\u003c/li\u003e\n \u003cli\u003eMarwaha S, Knowles JW, Ashley EA (2022) A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 14(1):23. doi: 10.1186/s13073-022-01026-w.\u0026nbsp;\u003c/li\u003e\n \u003cli\u003eNational plans or strategies for rare diseases: National plans or strategies for rare diseases: page updated - Public Health retrieved (April 2\u003csup\u003end\u003c/sup\u003e 2026)\u003c/li\u003e\n \u003cli\u003eNguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 28(2):165-173. doi: 10.1038/s41431-019-0508-0.\u003c/li\u003e\n \u003cli\u003eOnline Mendelian Inheritance in Man, OMIM\u0026reg;. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). https://omim.org/\u003c/li\u003e\n \u003cli\u003eOrphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM. 1997. Available at: http://www.orpha.net\u003c/li\u003e\n \u003cli\u003e\u003cem\u003eRare Diseases Sweden\u003c/em\u003e (sallsyntadiagnoser.se) (https://doi.org/10.1038/s41431-024-01604-z, Rare Diseases Sweden member survey 2024\u003c/li\u003e\n \u003cli\u003eRareminds Rare Minds Matter - Mental Health \u0026amp; Rare Disease doi: 10.1111/joim.13655 ease Survey Report Published. - Rareminds\u003c/li\u003e\n \u003cli\u003eReed S, Le Calv\u0026eacute; P, DeCongelio M et al. (2024) \u003cem\u003eAssessing gaps in the timely referral of patients for a rare disease diagnosis: A cross‑sectional survey of physicians in Europe.\u003c/em\u003e Value in Health. 27: S351.\u003c/li\u003e\n \u003cli\u003eRos\u0026aacute;rio J, Raposo B, Santos E, Dias S, Pedro AR (2024) Efficacy of health literacy interventions aimed to improve health gains of higher education students-a systematic review. BMC Public Health 24(1):882. doi: 10.1186/s12889-024-18358-4.\u003c/li\u003e\n \u003cli\u003eSmith CIE, Bergman P, Hagey DW (2022) Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare. Science. 25(8):104698. doi: 10.1016/j.isci.2022.104698.\u003c/li\u003e\n \u003cli\u003eThe Swedish Patient Act. (Patientlagen 2014:821) Stockholm: Sveriges riksdag.\u003c/li\u003e\n \u003cli\u003eThe Swedish Research Ethics Review Act (Etikpr\u0026ouml;vningsmyndigheten SFS 2003:460)\u0026nbsp;\u003c/li\u003e\n \u003cli\u003eTesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A (2023) Precision medicine in rare diseases: What is next? J Intern Med. 294(4):397-412. doi: 10.1111/joim.13655\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Rare disease, diagnostic journey, health care needs, healthcare access, healthcare satisfaction, perception of care","lastPublishedDoi":"10.21203/rs.3.rs-9378200/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-9378200/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eIn Sweden, it is estimated that around half a million people live with a rare disease, and many more are affected through a family member. Despite this, little is known about patients\u0026rsquo; experiences of the diagnostic journey, healthcare needs, and trust in the healthcare system. This study aims to explore patients\u0026rsquo; attitudes towards what is offered within Swedish healthcare.\u003c/p\u003e \u003cp\u003eAn online cross-sectional survey was completed in 2021 by members of Rare Diseases Sweden. In total, 942 respondents representing 120 different diagnoses participated. Over half live with a rare disease, while the remaining respondents are caregivers. Slightly more than one third of the conditions involve intellectual disability, and one in five include motor impairment. Almost half involve complex healthcare needs. Disease onset occurred at birth or the newborn stage in 23% of cases, during toddler age in 13%, and in adulthood in 4%, while for 60% the age of onset varies.\u003c/p\u003e \u003cp\u003eMost respondents were diagnosed as adults (44.4%), followed by childhood (27.9%) and at birth (16.7%). Seven out of ten have consulted an expert in their condition. More than one third were diagnosed within six months of first healthcare contact, and nearly half within one year, while one in ten waited over ten years. Those with diagnostic delays exceeding ten years were less likely to see a specialist, had unmet healthcare needs, and reported lower trust in healthcare professionals and the system. The study provides valuable insight into the diagnostic journey and healthcare experiences of individuals with rare diseases and their next of kin.\u003c/p\u003e","manuscriptTitle":"Diagnostic journey and Care Experiences of Persons living with Rare Diseases in Sweden","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-05-07 20:11:29","doi":"10.21203/rs.3.rs-9378200/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-05-15T07:54:25+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-05-14T15:52:40+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-05-13T18:26:31+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"170726198402935909424659228862299121096","date":"2026-04-29T13:04:04+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"139568764806224234266430905134641352338","date":"2026-04-24T06:30:22+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-04-23T14:41:55+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-04-14T15:01:52+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-04-14T13:16:40+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Community Genetics","date":"2026-04-10T10:13:04+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"c421252d-7c5f-4df5-b893-3cd505360556","owner":[],"postedDate":"May 7th, 2026","published":true,"recentEditorialEvents":[{"type":"decision","content":"Revision requested","date":"2026-05-15T07:54:25+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-05-14T15:52:40+00:00","index":22,"fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-05-13T18:26:31+00:00","index":21,"fulltext":""}],"rejectedJournal":[],"revision":"","amendment":"","status":"in-revision","subjectAreas":[],"tags":[],"updatedAt":"2026-05-15T08:12:12+00:00","versionOfRecord":[],"versionCreatedAt":"2026-05-07 20:11:29","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-9378200","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-9378200","identity":"rs-9378200","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}