Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey

Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey | 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 Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey Jamie Linnea Luckhaus, Charlotta Ingvoldstad Malmgren, Pernilla Blom, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6334393/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Little is known about the healthcare services experiences of people living with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorders (HSD) in Sweden. An investigation into how people with EDS in Sweden access and experience healthcare related to their diagnosis is needed to improve care services. Objective: To explore how people with HSD and EDS (HSD/EDS) use and perceive healthcare services in Sweden. Methods: An anonymous survey was sent to members of Rare Diseases Sweden in November-December 2021. The descriptive analysis (counts, percentages) focused on data from 277 respondents who reported having an HSD/EDS or hypermobility diagnosis and who responded for themselves, as a patient. Results: The majority of respondents were adult women, residing in one of the three most populous regions, diagnosed as an adult. Notably, about half reported being denied care due to their EDS diagnosis and as many experienced a long diagnostic journey of over 10 years. Fewer than half reported having sufficient information about HSD/EDS, and numerous shortcomings in the healthcare system were reported. One of the most agreed upon challenges was coordination of healthcare contacts, and about a quarter disagreed that care is adapted to their needs or that they receive support in self-care. Conclusions: Our results suggest education efforts, especially those that support self-management and shared decision-making, are needed to reduce the time to diagnosis and increase care access and experience post diagnosis; this would likely increase trust and care satisfaction. Primary care should be a priority, as most respondents receive the majority of their care there, and trust rated the lowest for primary care. Ehlers–Danlos syndrome EDS hypermobility syndrome rare diseases quality of life quality of care healthcare services healthcare access healthcare satisfaction patient’s perception of care cross-sectional survey Hypermobility Spectrum Disorder HSD Figures Figure 1 Figure 2 Figure 3 Figure 4 BACKGROUND Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of hereditary connective tissue disorders characterized by skin hyperextensibility, tissue fragility, joint hypermobility and joint instability. There are 13 subtypes, each demonstrating its own specific phenotype ( 1 ). Among these, hypermobility EDS (hEDS) is presumably the most common subtype and most prevalent hereditary connective tissue disorder ( 2 ). Joint hypermobility is defined as an increased range of motion of the joints and varies with age, gender and ethnicity ( 3 ). The prevalence of joint hypermobility in the general population is 10–20%, and can be symptomatic or asymptomatic ( 4 ). When symptoms are present, it may indicate a general hypermobility spectrum disorder (HSD) or a heritable disorder of connective tissue (HTCD), such as Ehlers-Danlos syndrome. The clinical hallmarks of hEDS are generalized joint hypermobility, skin hyperextensibility and fragility, abnormal wound healing and easy bruising ( 3 ). HSD and hEDS form a heterogeneous group of conditions with varying penetrance and variable expressivity, presenting as a spectrum of symptoms affecting multiple tissues, see Fig. 1 ( 4 ). This means that within the same family, some individuals may meet the criteria for HSD, while others meet the criteria for hEDS. HSD and hEDS have a similar clinical presentation and treatment, and the two terms are often combined as HSD/hEDS. Patients with HSD/hEDS suffer from a multisystemic disorder often associated with multiple comorbidities, including dysautonomia, gastrointestinal symptoms, multiple allergies and fatigue. These diagnoses are established clinically based on the 2017 International criteria specific to each condition ( 5 , 6 ). The prevalence of HSD/hEDS is about 3% of the general population, of which hEDS accounts for about 1–5% of cases ( 1 , 3 , 34 ). HSD describes individuals with hypermobility-related musculoskeletal concerns who do not meet the criteria for hEDS or other HCTD or other cause of joint instability, impacting about 300/10 000 ( 3 , 7 ). hEDS remains molecularly unexplained to date, with no known genetic markers and no diagnostic test. Common clinical manifestations are musculoskeletal complaints, such as joint instability, and pain syndromes, with an estimated prevalence of hEDS is about 2/10 000. In contrast with HDS, hEDS is associated with more systemic manifestations ( 3 , 7 , 8 ). HSD/hEDS is often either undiagnosed or misdiagnosed, and the situation can be frustrating for the patient as well as the physician and other caregivers ( 4 , 7 ). The 12 other EDS subtypes are caused by different gene defects, and are very rare, with a prevalence of 1/20 000 for classical EDS (cEDS) and 1/50 000–1/200 000 for vascular EDS (vEDS). The prevalence for the other, even rarer subtypes is < 1/1 000 000, and mostly only described in a few known cases ( 1 , 5 , 7 – 10 ). Patients with cEDS have extremely hyperextensible skin, atrophic scarring and generalized joint hypermobility. Minor criteria are soft velvety skin, molluscoid pseudotumors, epicanthic folds, hernias, luxations and increased risk for bruises. Molecular genetic testing is needed to diagnose cEDS ( 1 , 11 ). In vEDS there is a familiar pattern of arterial rupture at a young age, spontaneous sigmoid rupture, and rupture of the uterus. Other common manifestations are hematoma, spontaneous pneumothorax, acrogeria, talipes equinovarus, congenital hip dislocations, characteristic face appearance (big eyes, narrow nose, thin lips) and early varicose veins. Molecular genetic testing is needed for diagnosis ( 1 , 12 ). The Swedish healthcare system is primarily tax-funded​. Sweden has about 44 000 physicians, including around 7 000 general practitioners (GPs) and approximately 100 clinical geneticists. General medicine in Sweden manages a wide range of cases, 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 will refer them to a specialist when necessary ( 13 ). Knowledge of EDS is limited among GPs, and suspected cases are to be referred to clinical geneticists for a diagnosis. There are, however, only about 100 clinical geneticists in Sweden, thus, the diagnostic journey is often long, and can entail waiting multiple years for an EDS-investigation​, if the referral is accepted. Previous studies have reported about 10–12 years from first symptoms to diagnosis ( 9 ).​ There is no official healthcare center with expertise on hEDS/HSD in Sweden. Rheumatologists, clinical geneticists, dermatologists, orthopedics and other specialists seldomly accept referrals for investigating suspected EDS-cases, contributing to the long diagnostic journey.. Limited access to experienced clinicians for advice and care is not unique for HSD/hEDS and other EDS-subtypes, it is recognized in many areas of healthcare ( 9 ). Unlike the other rarer EDS subtypes, HSD/hEDS is not considered a rare diagnosis, and are not a part of the database of rare diseases from the National Board of Social Affairs and Health – rare diseases (Socialstyrelsen – sällsynta hälsotillstånd), which may contribute to gaps in specialized care and support ( 14 ). Little is known about how individuals with HSD/EDS in Sweden navigate and perceive healthcare services. Understanding these experiences is crucial for identifying barriers and improving care pathways for this patient group. Thus, the aim of the paper was to explore how people with HSD/EDS use and perceive healthcare services in Sweden. METHODS The study is reported in accordance with the STROBE checklist ( 36 ) for cross-sectional studies (see Appendix 1). Study Design and Setting To address the aims, we used the results from the 2021 annual online survey carried out by Rare Diseases Sweden (Sällsynta Diagnoser). The survey consisted of 105 items, which were a combination of single-choice, multiple-choice, Likert scale, and free-text items. No item was mandatory to complete, some questions appeared conditionally depending on an answer given at a prior point. The survey was in Swedish, and was estimated to take roughly 60 minutes depending on how many free-text questions participants would choose to answer. The survey was the 2021 version of an annual survey led by Rare Diseases Sweden, though the questions differ somewhat from year to year. For this version, the questions were designed by Rare Diseases Sweden in collaboration with the 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). The questions were chosen based on priority areas of concerns as identified by Rare Diseases Sweden and its members, with some questions adapted from Hälso- sjukvårdsbarometern 2020 ( 43 ). The original survey can be found in Appendix 2, and an English translation of the questions used in this substudy in Appendix 3. The survey was disseminated digitally in the fall of 2021 for one month (November 29th, 2021 - December 22th, 2021) to the 8,594 members of Rare Diseases Sweden who had provided contact information. Members with a rare diagnosis and/or an informal caregiver to someone with a rare diagnosis was invited to complete the survey. Respondents under 16 were required to complete the survey together with an adult. The survey was distributed 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 17.26%. In this paper, we focused on the participants who indicated that they have an HSD/EDS diagnosis ( n = 277) . Responses were anonymous, so we have not confirmed their diagnosis with their patient records. Participants Participants were individuals who reported having EDS—but did not disclose what type, and may include all subtypes and HSD—and who had experience of the Swedish healthcare system. To achieve this sample, we took the question “What diagnosis(ies) do you have?” and selected only participants who indicated “Ehlers Danlos Syndrome (EDS)” ( n = 304), and excluded those who answered from an informal caregiver perspective rather than someone living with HSD/EDS ( n = 588). This resulted in a total sample of 277 patients with HSD/EDS (see Table 1 ). Table 1 EDS sample compared to initial survey sample. Total sample EDS sample Sample size 1 483 277 Completing survey for … Myself as someone with a rare disease 685 (46.19%) 119 (42.96%) Myself as someone with a rare disease and as a family member to someone with a rare diagnosis 210 (14.16%) 78 (28.16%) Diagnosed with EDS 304 (20.40%) 277 (100%) Note : For exact wording of the survey items, refer to Appendix 2 and 3. Analysis To analyze HSD/EDS patients’ experience with healthcare in Sweden, we used 43 questions from Rare Diseases Sweden’s 2021 member survey based on their relevance to EDS (see Fig. 2 ). Analysis consisted of descriptives (count, percentage) summarized through frequency tables and in-text descriptions. Care needs and trust were presented in relation to time to diagnosis and education level. No statistical testing was conducted. 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. Analysis was carried out by JLL with input from AK in JASP v0.19.1.0 ( 37 ). Datawrapper (app.datawrapper.de) and Miro© ( 38 ) were used for figures. Ethical considerations Scientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01). The survey responses were anonymous. Informed consent was acquired. Participants could withdraw from the study at any point by exiting the survey. RESULTS Survey results were translated and are 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. Socio-demographic characteristics and health status Of the 277 HSD/EDS patients, most were women (95.29%), aged 55–64 years (29.96%), which is in line with previous findings on unequal gender distribution of HSD/EDS as well as women’s increased tendency to participate in research more than men. The majority were born in Sweden (91.34%), working (70.91%) and college-educated (54.71%). Table 2 Sociodemographic characteristics. Count % Gender ( n = 276 ) Woman 263 95.29 Man 11 3.97 Other 1 2 0.72 Age ( n = 276) 6 years or younger 1 0.36 7 – 11 years 0 0 12–18 years 2 0.72 19–24 years 1 0.36 25–34 years 20 2.46 35–44 years 62 22.46 45–54 years 75 27.08 55–64 years 83 29.96 65–74 years 28 10.14 75 years or older 4 1.45 Country of birth ( n = 276) Sweden 253 91.34 Northern Europe (not Sweden) 9 3.26 Europe (not Northern) 8 2.90 Global (not Europe) 6 2.17 Highest level of education ( n = 276) Currently in pre-/primary school 1 0.36 Primary school 15 5.43 Special education, Primary school 0 0 Secondary education/High school 88 31.88 Special education, Secondary/High school 5 1.81 Higher education/University/College 151 54.71 Other 13 4.71 Prefer not to specify 3 1.09 Employment status ( n = 165) Employed 117 70.91 Unemployed 19 11.52 In pre-school 1 0.61 In school 10 6.06 Other education 4 2.42 Don’t know or Prefer not to specify 3 2.43 Upon rating their health status, most respondents rated their health below the middle point (61.3%) and no one selected the highest value of “excellent ” (see Fig. 3 ). Most respondents resided in Stockholm Region (18.18%), followed by Western Götaland (12.36%), and Scania (10.18%) (see Appendix 4 , Fig. 1 ), which correspond to the counties with Sweden’s three most populous regions in descending order. The distribution reflects the distribution of all survey respondents (those with rare diseases other than HSD/EDS) and also the overall distribution of population in Sweden. Three respondents indicated that they currently resided outside of Sweden (1.09%). Diagnostic Journey Experience of EDS Diagnosis All participants reported having one or more formal diagnosis(es) (of which HDS/EDS is listed), with 83.39% having all rare disease diagnoses listed in their patient records (see Table 3 ). Nearly all were diagnosed as adults, (94.2%), and over half (51.26%) indicated that it took more than a decade to receive a diagnosis since their first contact with healthcare for their symptoms. Thinking about their prognosis, a majority (202/276, 73.19%) responded that they do not have “ sufficient knowledge about what life with the rare health condition will look like when they get older ” whereas 11.59% felt they did. When it came to estimating whether healthcare professionals are knowledgeable about their prognosis, most (212/275, 77.09%) responded “ No. ” Table 3 Experience of EDS Diagnosis. Count % Formal diagnosis for one or more rare diseases , ( n = 275 ) Yes, and they are all listed in my patient record 231 83.39 Yes, and some are listed in my patient record 37 13.36 Yes, but none are listed in my patient record 7 2.53 No, I have a rare disease but without a formal diagnosis 0 0 Time to diagnosis since first contact with healthcare due to EDS symptoms , ( n = 277) Under 6 months 18 6.50 7–11 months 10 3.61 1–2 years 24 8.66 3–4 years 23 8.30 4–10 years 38 13.72 Over 10 years 142 51.26 I don’t know 3 1.08 Other 19 6.86 Age when diagnosed , ( n = 276) Childhood 6 2.17 Teens 5 1.81 Adulthood 260 94.20 Other 5 1.81 Impact of EDS As seen in Table 4 , over half of respondents worked reduced hours due to their diagnosis (69.91%), and half spent up to five hours weekly on self-care, i.e., care and administration related to your diagnosis (50.00%). Table 4 Impact of EDS. Count % Impact on work , ( n = 216) Reduced work (< 100%) due to EDS 151 69.91 No reduced work (working 100%) 50 23.15 I don’t know or I don’t want to answer 15 6.95 Hours spent in self-care per week , ( n = 274) 0–1 hour 67 24.45 2–5 hours 70 25.55 6–10 hours 43 15.69 11–20 hours 23 8.39 21 hours or more 21 7.66 Genetic Testing Only a minority (15.22%) had been offered genetic testing, and almost all of them (14.86%) received it, see Table 5 . Genetic testing led to a diagnosis in over half of the respondents (58.83%). For most, it was an MD in genetic care who informed them about the possibility of testing (39.02%) and who interpreted the results (41.46%), (see Appendix 4 , Table 1 ). Among those who did not receive testing, over half expressed interest in it (61.27%). Table 5 Genetic Testing. Count % Offered genetic testing , ( n = 276) 42 15.22 Was not offered but would they have wanted it , ( n = 233) 143 61.27 Received genetic testing , ( n = 276) 41 14.86 Testing resulted in a rare disease diagnosis, ( n = 41) 24 58.83 Felt sufficiently informed prior, ( n = 41) 18 43.90 Note : MD — Medical doctor, RN — registered nurse. Healthcare Utilization and Experience General Care Over half of respondents reported receiving most of their care in primary care (59.42%), see Table 6 , and about as many (59.64%) reported a need for a permanent care contact for care coordination. However, only 54.35% had one or more permanent care contacts. Among those who report having permanent care contacts, the most common one was an MD in primary care (82.78%), followed by a physiotherapist (53.64%) however, over a third did not feel their contacts were useful (39.07%). About 35.87% indicated having multiple permanent care contacts, indicating the need for higher-level coordination. A minority had received an individual care plan (29/276, 10.50%), including a description of care goals and timetable for treatments, either written (5.43%) or verbal (5.07%). Majority had not (214/276, 77.54%), and 9.06% were either unsure if they had a plan or unsure of what a care plan was. Among respondents, the vast majority (89.29%) had visited primary care in-person within the last six months (242/276), and 71.58% had done so more than once (194/271), see Appendix 4 , Fig. 2 . Over half had been to another specialist (61.54%, 152/247) and the hospital (58.16%, 146/251). . Table 6 Utilization and experience of general healthcare. Count % Proportion of care in primary care , ( n = 276) Majority 164 59.42 Mixed 49 17.75 Minority 36 13.04 Don’t know or Not relevant 27 9.78 Need for permanent care contact(s) ( n = 275) Yes 164 59.64 No 44 16.00 Don’t know or Not relevant 67 24.22 Number of permanent care contacts , ( n = 276) Multiple 99 35.87 One 51 18.48 None, but I could use one 85 30.80 None, and not needed 9 3.26 What is a permanent care contact? 16 5.80 Not relevant 4 1.45 Don’t know or Prefer not to specify 12 4.34 Who is/are the permanent care contact(s) , ( n = 151) * MD in primary care 125 82.78 MD in other specialty care 63 41.72 RN in primary care 18 11.92 RN in other specialty care 20 13,25 Psychologist 19 12.58 Social worker 13 8.61 Physiotherapist 81 53.64 Other 25 16.56 No response 1 0.66 Usefulness of permanent care contact , ( n = 276) Yes, they are helpful in coordinating my care 50 33.11 No, they are not helpful in coordinating my care 59 39.07 Don’t know , Not relevant or Prefer not to specify 42 27.81 * Multiple-choice question, so percentages will not add up to 100%. Dental Care Table 7 shows a snapshot of respondents' contact and experience with dental care. Roughly two-thirds of respondents reported regular contact with dental care (71.38%), defined as visiting at least once per year. The most common reason to have abstained from dental care was due to cost (41.52%). Table 7 Experience with dental care. Count % Regular contact with dental care , ( n = 276) Yes, annually 197 71.38 No, not annually 74 26.81 Don’t know 5 1.81 Abstaining from dental care , ( n = 277) * 277 No, never abstained 131 47.29 Because of cost/expensive 115 41.52 Other reason 46 16.61 Because too far/long trip 7 2.53 Because of time 5 1.81 Not relevant 3 1.08 Don’t know or Prefer not to specify 4 1.44 Care Needs Nearly half agreed “somewhat” (27.27%) or “strongly” (21.09%) that they have been denied care (e.g. not admitted to an emergency department or not received treatment for a common ailment like a sore throat) because of their rare disease (133/275, 48.17%). When asked whether they have access to habilitation, most responded “no, but want habilitation” (105/275, 38.18%), and 25.82% responded “unsure.” Only 12.36% (34/275) reported having habilitation access, and 18.77% felt there was “no need” (52/275). Half did not feel that they had access to the healthcare they needed (139/277, 50.18%), compared to 38.99% who somewhat or strongly felt that they did have access (108/277). Respondents were split when estimating whether their care needs were met, with half of all responses ( n = 275) answering that their care needs were not met (50.55%). Dividing the sample based on time to diagnosis and education level retained the trend, with most not having their care needs met (see Appendix 4 , Fig. 3 ). Perceptions and Trust for Healthcare Opinions about Healthcare With regard to their future with EDS, nearly half responded that they do not feel there is enough “help and support from healthcare and public services” for when they get older (128/276, 46.38%), and 50.0% were unsure (138/276). Half felt that healthcare encourages disease prevention and health promotion to a “small degree” or “not at all“ (139/274, 50.73%), whereas about a third responded to a “very high”/”high ” degree (96/274, 35.03%). As seen in Fig. 4 , HSD/EDS patients reported in 15.16% of cases that they do not perceive easy access to a healthcare professional (HCP) when needed, and only 14.08% of respondents reported satisfactory (“strongly agree”/”agree”) coordination of healthcare contacts. About one fourth disagreed that care is adapted to their needs (26.35%) and that they receive healthcare support in self-care (24.28%). Trust for Healthcare Trust for healthcare services and HCPs was overall low. Combining trust ratings “very high” and “high” , most valued were: hospital HCPs (109/276, 39.49%), HCPs in general (93/275, 33.45%), and primary care HCPs (85/276, 30.79%). In comparison, healthcare services always received less than 30% trust levels, see Appendix 4 , Fig. 4 . Information Sources Just under half (127/276, 46.01%) reported that they are “not lacking information” about their rare disease, compared to 35.51% (98/276) who reported they “are lacking information.” When asked to choose their top three best sources of information about their rare diagnosis, respondents selected “Other networks” (150/276, 54.35%), Google (115/276, 41.42%), and the Rare Diseases Sweden, the Swedish national alliance for people living with rare diseases (Riksförbundet sällsynta diagnoser) (112/276, 40.58%). The university hospitals’ rare diseases “Expert Team” (77/275, 28.9%) places fourth and the National Board of Health and Welfare (Ågrenska) knowledge database for rare health conditions (71/276, 25.72%) and social media (70/276, 25.36%) tied fifth. Blogs, friends, medical doctors, a rare diagnosis expert team, and other healthcare professionals each were reported below 13%. DISCUSSION Our findings provide insight into the experiences of HSD/EDS patients in Sweden with diagnosis and healthcare services. Our findings show that a significant number face diagnostic delays, as well as access and care coordination challenges. Half of respondents felt their care needs were met, yet nearly half reported having been denied basic care (including for symptoms unrelated to HDS/EDS) due to their HSD/EDS. Regarding the quality of care received, about a quarter disagreed that care is adapted to their needs or that they receive support in self-care. The most negative perception was towards coordination of healthcare contacts. These challenges were reflected in respondents’ level of trust for healthcare, which was overall low. Diagnostic Journey Only a small portion received genetic testing, which is likely a reflection of their disease presentation, and whether they showed signs and symptoms suggestive of cEDS/vEDS, which would qualify them for genetic testing ( 1 , 11 ). Due to the severity in nature, respondents who tested might also spend more time in specialized care and self-care, and have a different experience of healthcare than those with other subtypes, especially the more common hEDS. Of those tested, the majority resulted in a diagnosis. Even among those likely with more common HDS/hEDS (i.e. who did not test), however, HSD/EDS appears to greatly impact respondents’ daily lives, with most rating their health status closer to “poor” than “excellent. Consistent with another study on hEDS patients, over half of all employed respondents reduced their hours because of their diagnosis ( 15 ). Healthcare Utilization and Experience General care Over half of respondents received the majority of their care in primary care and had visited within the last six months, and trust in healthcare was lowest for primary care (staff and services). Among the 54.35% who had a permanent care contact, a primary care physician was most common. Only a minority had received a care plan, written or verbal, which is likely in part because creating a care plan requires a permanent care contact, which nearly half were lacking. Furthermore, a care plan is not required within rare diseases, though it is encouraged, with efforts to make common practice ( 16 ). Additionally, HDS/hEDS are commonly not considered rare diseases, which may be why those respondents are without. Wider efforts to co-create a care plan might help improve treatment, raise the level of patient knowledge and care satisfaction related to their HSD/EDS. Effective patient-provider communication regarding disease management has been found to impact patient psychological and physical health ( 17 ). In this context, self-management models — such as group-learning approaches tested in other patient groups — offer a promising complement to standard care. Such approaches demonstrate that when a HCP takes on a facilitator role rather than attempting to “have all the answers,” patients feel more empowered, better able to cope, and more involved in shared decision-making. This model may be particularly applicable and mutually beneficial in the context of diseases like EDS/HSD, where patient knowledge often exceeds that of their clinicians ( 35 ). Dental care Dental care access was relatively high, with the majority (71.38%) seeing a dentist annually, which is higher than the general Swedish population. In 2019, nearly 56% of adults over 23 in Sweden visited the dentist annually ( 18 ). The COVID-19 pandemic resulted in a 16% drop in visits in 2020 ( 18 ), although even in 2023, the numbers had not returned to pre-pandemic ( 19 ). The number of Swedes visiting the dentist annually has been steadily declining over the last decade across socioeconomic classes and location ( 19 ). However, dental health and frequency of visits is still generally lower among those with socioeconomic challenges, which is also reflected in our data, with cost being the most commonly reported barrier to dental care. The more frequent visits among our respondents may be due to heightened oral health risks associated with EDS; dental health is especially important for people with EDS, as studies have found poorer oral-health outcomes among those with HSD/EDS, impacting quality of life ( 20 , 21 ). Women with EDS reported greater mouth pain and discomfort during meals due to the disease ( 20 ). Dentists tend to lack knowledge of how EDS may impact oral health, and research on specific dental impacts of EDS subtypes is limited ( 22 ). Additionally, women have been found to visit the dentist slightly more frequently than men ( 19 ) and our respondents were mostly women. Perceptions and Trust for Healthcare Perceptions of healthcare among those with HSD/EDS were notably poorer compared to the general Swedish population, as reported in a survey carried out the same year ( 23 ). While 88% of the general population indicated in 2021 that they had access to the healthcare they needed, only 39% of those with HSD/EDS who “somewhat” or “strongly” felt that they had access to the healthcare they needed ( n = 108/277). Similarly, 69% of Swedish residents responded that they have a “very high ” or “fairly high” level of trust in the healthcare system as a whole in their own region, whereas 28% of those with HSD/EDS indicated “very”/”fairly high” levels of trust. Among HSD/EDS patients, trust was generally higher for healthcare professionals than for services, with the highest trust reported for hospital HCPs and the lowest being for primary care. This trend might reflect a feeling of shortcoming within the system, rather than a fault of individual HCPs. Research suggests that patients and HCPs alike value the processes above structures and outcomes when judging healthcare quality, with motivated and knowledgeable HCPs being key aspects. In contrast to HCPs, though, patients were found to prioritize person-centered care, and HCPs who communicate in an “interpersonally adaptive way,” showing empathy and recognition for individual needs ( 24 ). Disease knowledge and credibility According to current knowledge, HSD/EDS is reported more than twice as often in women than men ( 9 ), which is reflected in our data. Most respondents were diagnosed as adults, which reflects the fact that symptoms most commonly present in adulthood and that in keeping with international guidelines, Swedish MDs avoid diagnosing children with EDS ( 1 ). However, it took about half of respondents over 10 years to receive a diagnosis. This long diagnosis journey is unfortunately not uncommon ( 33 ). A survey of women with EDS in Australia found that over half had noticed symptoms more than 15 years prior to diagnosis, and the majority had received another diagnosis prior to EDS ( 25 ). This delay may simply be due to the rarity of the disease, as the few men who responded to our survey also mostly had a long diagnosis journey, suggesting a need for increasing HDS/EDS awareness and recognition among HCPs. However, there could also be gender aspects at play; women and girls are more likely than males to experience chronic pain, and more likely to be met with skepticism by healthcare ( 26 ). Chronic pain and fatigue commonly accompany EDS/HDS; individuals with EDS, especially hEDS, are often misdiagnosed with fibromyalgia or depression ( 26 ), which are common comorbidities ( 15 ) and all conditions with gender disparities. Australian women with EDS felt that their health complaints were not listened to, and that after self-educating, many felt they had to educate their healthcare professional(s) about EDS ( 25 ). Research indicates that patients with a rare disease tend to have a higher level of knowledge regarding their condition than the average patient, and in many cases even more than their HCP ( 28 ), again highlighting the need for improved HCP education. Patients often report being taken more seriously after receiving an official diagnosis, with a “biological marker” (in this case a genetic test), further validating their experiences and struggles. Numerous studies document the challenges people with chronic pain face due to lacking objective measures, or the “invisibility” of their symptoms ( 29 ). This might explain why the majority of our respondents who were not offered genetic testing wanted it. The fact that so many wanted genetic testing may also suggest a need for improved healthcare communication and clearer guidance on the diagnostic process, EDS subtypes, as well as information about the knowledge — or lack thereof — about genetic causes and therefore possibilities and limitations for genetic testing. Even after diagnosis, the availability of information about EDS was lacking, as fewer than half reported having sufficient information about their disease. This points to a need for better access to comprehensive, patient-centered education within healthcare. Very few reported a healthcare professional as a key information source, with around 40% turning to Google and Rare Diseases Sweden. This lack of healthcare professionals as sources may be due to the fact that most respondents receive a large portion of care within primary care, and the system is set-up for primary care to refer HDS/EDS patients to clinical geneticists for diagnosis, of which there is a shortage. As a result, primary care professionals might not feel equipped to provide detailed information, and respondents might not see specialists often enough to consider a key information source. Additionally, turning to ‘Dr Google’ or an LLM Chatbot is common practice these days, and research suggests that for rare diseases, ‘Dr Google’ is often more accurate than a physician ( 30 ). Goldberg argues that Google is perhaps preferable to ChatGPT, as there is more transparency around sources ( 30 ), though further insights into how persons with rare disease use LLM Chatbots is needed. Relying heavily on internet resources, however, has long been discussed as a risk for misinformation and undue anxiety, although most research is on the general public and not individuals with a rare disease. Ashtari and Taylor ( 32 ) found that individuals with rare diseases, including EDS, often developed high confidence in their ability to assess and share online information, partly in response to inconsistent or inadequate support from HCPs. Recent research by Halverson et al. ( 33 ) on individuals with hEDS highlights how patients actively use social media and online platforms not only to seek medical information, but also to find validation and connect with others. Their findings also underscore the potential downsides of this reliance, including the spread of misinformation and the emotional toll of constantly engaging with illness-related content ( 33 ). Limitations This survey reflects the experiences of the members of the Swedish National Alliance of Rare Diseases. Those who are members are likely better connected to support services and health-specific education than those who are not members, and therefore those not represented in this study can be expected to face even bigger challenges in their access to and satisfaction with HCP services. It may also be that individuals who have experienced gaps and frustrations with the healthcare system turn to networks. Data were collected at the end of 2021, coming out of the COVID-19 pandemic, meaning that any influence the pandemic had would likely influence respondents' reports. Additionally, we do not know what year respondents were diagnosed and what HSD or EDS-diagnosis they received, and the awareness and diagnosis process have changed since then, something to consider when interpreting certain questions. Another aspect which has changed over the years is the classification of subtypes of EDS. Currently, all types except HSD and hEDS are diagnosed/confirmed through genetic testing. 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. While there may be a gender imbalance in the sample, EDS is more prevalent among women, and women generally participate in research more frequently than men, which may partially account for this. Additionally, the regional distribution of respondents largely mirrors Sweden’s population distribution, supporting the geographic representativeness of the findings; however, the low overall response rate may still limit the generalizability of results. Future directions Our findings echo that of others in that many individuals with rare diseases face a long diagnostic journey followed by challenges within healthcare and public services. Healthcare flow must be improved to better EDS patients’ experiences. Examples of integrated care solutions across Europe may serve as a useful blueprint to improving experiences for HDS/EDS patients in Sweden ( 31 ). Improved education for primary healthcare providers is needed to shorten the diagnostic journey ( 42 ). Following diagnosis, group-based educational interventions—modeled on those used in other chronic conditions—could support self-management, improve patient knowledge and autonomy, and strengthen patient–clinician communication, ultimately enhancing care satisfaction without adding burden to healthcare providers ( 35 ).HSD/EDS disproportionately impacts women, and women are known to more commonly participate in research. Therefore, it is important for future research to capture any potential differing needs of the male patients with HSD/EDS. Likewise, further research is needed looking into the EDS subtypes and what differing experiences and care needs there may be, especially compared to the more common hEDS. Finally, further research is needed to better understand the underexplored experiences and needs of caregivers supporting individuals with EDS and HSD. Conclusion This study provides insights into how HSD/EDS patients in Sweden experience healthcare services, an area of research which is lacking. The long diagnostic process and reported denial of care due to their HSD/EDS reflect challenges this patient group faces in their diagnostic and disease journey. Cost of dental services was a reported barrier, which is crucial to address due to the heightened risk for complications among this patient group. Our results suggest that efforts including healthcare professional education are needed to reduce the time to diagnosis and reduce barriers to care post diagnosis; this would likely increase trust and care satisfaction, which were generally low. Primary care should be a priority, as most respondents receive the majority of their care there, and trust rated the lowest for primary care. Abbreviations EDS Ehlers–Danlos Syndrome cEDS Classical Ehlers–Danlos Syndrome hEDS Hypermobility Ehlers–Danlos Syndrome vEDS Vascular Ehlers–Danlos Syndrome GP(s) General practitioner(s) HCP(s) Healthcare professional(s) HTCD Heritable disorder of connective tissue HSD Hypermobility spectrum disorders MD Medical doctor RN Registered nurse LLM Large language model Declarations Ethics approval and consent to participate Scientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01). Use of personal data was in compliance with the Helsinki Declaration (https://www.wma.net/policies-post/wma-declaration-of-helsinki/). Consent for publication Not Applicable. Availability of data and materials The datasets analyzed during the current study are available from the corresponding author on reasonable request. Competing interests The authors declare that they have no competing interests. Funding None Authors' contributions SJ designed and disseminated the survey with collaborators including CIM and MJS. JLL analyzed the survey data with assistance from AK, CIM, and MJS and the data was interpreted in discussion among all authors. PB wrote the introduction, and JLL wrote the main draft of the other sections and constructed the figures/tables. All authors contributed revisions and all read and approved the final manuscript. Acknowledgements We thank the respondents for their time answering the survey. 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Supplementary Files Appendix1STROBEchecklistv4crosssectional.pdf Appendix2originalsurveySwedishRiksfrbundetSllsyntadiagnosermedlemsunderskninghsten2021.pdf Appendix3SelectedSurveyQuestionsTranslatedtoEnglish.docx Appendix.docx Cite Share Download PDF Status: Posted Version 1 posted 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. 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07:55:03","extension":"xml","order_by":26,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":158461,"visible":true,"origin":"","legend":"","description":"","filename":"ef506a7e61ca4ba1a3fbd5a93fade1d81structuring.xml","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/4425365b4e7bdfb84dd2fffc.xml"},{"id":91962436,"identity":"f610ed3e-f269-46a9-99bb-b5ff807ab9e6","added_by":"auto","created_at":"2025-09-23 07:55:03","extension":"html","order_by":27,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":173989,"visible":true,"origin":"","legend":"","description":"","filename":"earlyproof.html","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/7e616dfa56ece98fc9c8c9f8.html"},{"id":91962411,"identity":"ca3a98aa-8bac-47bb-87a7-c70a20bec6e0","added_by":"auto","created_at":"2025-09-23 07:55:03","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":454761,"visible":true,"origin":"","legend":"\u003cp\u003eTerminology and abbreviations.\u003c/p\u003e","description":"","filename":"image1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/b0d7cb712dfc6e440addb034.jpg"},{"id":91963864,"identity":"a4a9af88-79bd-47d3-a666-566bd24c3f25","added_by":"auto","created_at":"2025-09-23 08:11:04","extension":"jpg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":880799,"visible":true,"origin":"","legend":"\u003cp\u003eSurvey questions included in analysis.\u003c/p\u003e","description":"","filename":"image2.jpg","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/65e4151d3e621398af908ce5.jpg"},{"id":91962402,"identity":"3bf1351f-1e5d-404e-868c-0196b359034e","added_by":"auto","created_at":"2025-09-23 07:55:03","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":44530,"visible":true,"origin":"","legend":"\u003cp\u003eSelf-reported Health Status.\u003c/p\u003e","description":"","filename":"image3.png","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/7c58397ee4f8c2fb3eb74343.png"},{"id":91963313,"identity":"75b3acb0-6b5e-4f0d-ac4f-6524c38e3eb1","added_by":"auto","created_at":"2025-09-23 08:03:03","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":57881,"visible":true,"origin":"","legend":"\u003cp\u003eOpinions about received healthcare.\u003c/p\u003e","description":"","filename":"image4.png","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/ad16a169b918a635af876b6a.png"},{"id":109168306,"identity":"c968ae25-5014-4896-bd65-ae41fabe074f","added_by":"auto","created_at":"2026-05-13 08:33:15","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1979292,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/935a0e68-f4ee-4974-afbc-4d53c599c147.pdf"},{"id":91963319,"identity":"db2808b7-f370-45c0-807d-cc8bffa516c3","added_by":"auto","created_at":"2025-09-23 08:03:03","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":18494,"visible":true,"origin":"","legend":"","description":"","filename":"Appendix1STROBEchecklistv4crosssectional.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/2b5ec3204ef0e43108547305.pdf"},{"id":91962416,"identity":"6193b9b4-a7c6-4da0-99ea-a0c95533297e","added_by":"auto","created_at":"2025-09-23 07:55:03","extension":"pdf","order_by":2,"title":"","display":"","copyAsset":false,"role":"supplement","size":405529,"visible":true,"origin":"","legend":"","description":"","filename":"Appendix2originalsurveySwedishRiksfrbundetSllsyntadiagnosermedlemsunderskninghsten2021.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/7a8c01ae40168ac2fb85f25f.pdf"},{"id":91963860,"identity":"c6d7197e-14ea-473c-a4b7-b660dc9aca94","added_by":"auto","created_at":"2025-09-23 08:11:03","extension":"docx","order_by":3,"title":"","display":"","copyAsset":false,"role":"supplement","size":32077,"visible":true,"origin":"","legend":"","description":"","filename":"Appendix3SelectedSurveyQuestionsTranslatedtoEnglish.docx","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/33678dba7ab77652329a04b1.docx"},{"id":91962405,"identity":"95313ab3-5a54-4ce2-ae2e-b408c9227af5","added_by":"auto","created_at":"2025-09-23 07:55:03","extension":"docx","order_by":4,"title":"","display":"","copyAsset":false,"role":"supplement","size":428319,"visible":true,"origin":"","legend":"","description":"","filename":"Appendix.docx","url":"https://assets-eu.researchsquare.com/files/rs-6334393/v1/22cebcc84c361d11b77aa668.docx"}],"financialInterests":"No competing interests reported.","formattedTitle":"Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey","fulltext":[{"header":"BACKGROUND","content":"\u003cp\u003eEhlers\u0026ndash;Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of hereditary connective tissue disorders characterized by skin hyperextensibility, tissue fragility, joint hypermobility and joint instability. There are 13 subtypes, each demonstrating its own specific phenotype (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). Among these, hypermobility EDS (hEDS) is presumably the most common subtype and most prevalent hereditary connective tissue disorder (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eJoint hypermobility is defined as an increased range of motion of the joints and varies with age, gender and ethnicity (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). The prevalence of joint hypermobility in the general population is 10\u0026ndash;20%, and can be symptomatic or asymptomatic (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e). When symptoms are present, it may indicate a general hypermobility spectrum disorder (HSD) or a heritable disorder of connective tissue (HTCD), such as Ehlers-Danlos syndrome. The clinical hallmarks of hEDS are generalized joint hypermobility, skin hyperextensibility and fragility, abnormal wound healing and easy bruising (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eHSD and hEDS form a heterogeneous group of conditions with varying penetrance and variable expressivity, presenting as a spectrum of symptoms affecting multiple tissues, see Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e1\u003c/span\u003e (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e). This means that within the same family, some individuals may meet the criteria for HSD, while others meet the criteria for hEDS. HSD and hEDS have a similar clinical presentation and treatment, and the two terms are often combined as HSD/hEDS. Patients with HSD/hEDS suffer from a multisystemic disorder often associated with multiple comorbidities, including dysautonomia, gastrointestinal symptoms, multiple allergies and fatigue. These diagnoses are established clinically based on the 2017 International criteria specific to each condition (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). The prevalence of HSD/hEDS is about 3% of the general population, of which hEDS accounts for about 1\u0026ndash;5% of cases (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eHSD describes individuals with hypermobility-related musculoskeletal concerns who do not meet the criteria for hEDS or other HCTD or other cause of joint instability, impacting about 300/10 000 (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e).\u003c/p\u003e\u003cp\u003ehEDS remains molecularly unexplained to date, with no known genetic markers and no diagnostic test. Common clinical manifestations are musculoskeletal complaints, such as joint instability, and pain syndromes, with an estimated prevalence of hEDS is about 2/10 000. In contrast with HDS, hEDS is associated with more systemic manifestations (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e). HSD/hEDS is often either undiagnosed or misdiagnosed, and the situation can be frustrating for the patient as well as the physician and other caregivers (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eThe 12 other EDS subtypes are caused by different gene defects, and are very rare, with a prevalence of 1/20 000 for classical EDS (cEDS) and 1/50 000\u0026ndash;1/200 000 for vascular EDS (vEDS). The prevalence for the other, even rarer subtypes is \u0026lt;\u0026thinsp;1/1 000 000, and mostly only described in a few known cases (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e, \u003cspan additionalcitationids=\"CR8 CR9\" citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e). Patients with cEDS have extremely hyperextensible skin, atrophic scarring and generalized joint hypermobility. Minor criteria are soft velvety skin, molluscoid pseudotumors, epicanthic folds, hernias, luxations and increased risk for bruises. Molecular genetic testing is needed to diagnose cEDS (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e). In vEDS there is a familiar pattern of arterial rupture at a young age, spontaneous sigmoid rupture, and rupture of the uterus. Other common manifestations are hematoma, spontaneous pneumothorax, acrogeria, talipes equinovarus, congenital hip dislocations, characteristic face appearance (big eyes, narrow nose, thin lips) and early varicose veins. Molecular genetic testing is needed for diagnosis (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eThe Swedish healthcare system is primarily tax-funded​. Sweden has about 44 000 physicians, including around 7 000 general practitioners (GPs) and approximately 100 clinical geneticists. General medicine in Sweden manages a wide range of cases, 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 will refer them to a specialist when necessary (\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eKnowledge of EDS is limited among GPs, and suspected cases are to be referred to clinical geneticists for a diagnosis. There are, however, only about 100 clinical geneticists in Sweden, thus, the diagnostic journey is often long, and can entail waiting multiple years for an EDS-investigation​, if the referral is accepted. Previous studies have reported about 10\u0026ndash;12 years from first symptoms to diagnosis (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e).​ There is no official healthcare center with expertise on hEDS/HSD in Sweden. Rheumatologists, clinical geneticists, dermatologists, orthopedics and other specialists seldomly accept referrals for investigating suspected EDS-cases, contributing to the long diagnostic journey..\u003c/p\u003e\u003cp\u003eLimited access to experienced clinicians for advice and care is not unique for HSD/hEDS and other EDS-subtypes, it is recognized in many areas of healthcare (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e). Unlike the other rarer EDS subtypes, HSD/hEDS is not considered a rare diagnosis, and are not a part of the database of rare diseases from the National Board of Social Affairs and Health \u0026ndash; rare diseases (Socialstyrelsen \u0026ndash; s\u0026auml;llsynta h\u0026auml;lsotillst\u0026aring;nd), which may contribute to gaps in specialized care and support (\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e). Little is known about how individuals with HSD/EDS in Sweden navigate and perceive healthcare services. Understanding these experiences is crucial for identifying barriers and improving care pathways for this patient group. Thus, the aim of the paper was to explore how people with HSD/EDS use and perceive healthcare services in Sweden.\u003c/p\u003e"},{"header":"METHODS","content":"\u003cp\u003eThe study is reported in accordance with the STROBE checklist (\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e) for cross-sectional studies (see Appendix 1).\u003c/p\u003e\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\u003ch2\u003eStudy Design and Setting\u003c/h2\u003e\u003cp\u003eTo address the aims, we used the results from the 2021 annual online survey carried out by Rare Diseases Sweden (S\u0026auml;llsynta Diagnoser). The survey consisted of 105 items, which were a combination of single-choice, multiple-choice, Likert scale, and free-text items. No item was mandatory to complete, some questions appeared conditionally depending on an answer given at a prior point. The survey was in Swedish, and was estimated to take roughly 60 minutes depending on how many free-text questions participants would choose to answer. The survey was the 2021 version of an annual survey led by Rare Diseases Sweden, though the questions differ somewhat from year to year. For this version, the questions were designed by Rare Diseases Sweden in collaboration with the 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). The questions were chosen based on priority areas of concerns as identified by Rare Diseases Sweden and its members, with some questions adapted from H\u0026auml;lso- sjukv\u0026aring;rdsbarometern 2020 (\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e). The original survey can be found in Appendix 2, and an English translation of the questions used in this substudy in Appendix 3.\u003c/p\u003e\u003cp\u003eThe survey was disseminated digitally in the fall of 2021 for one month (November 29th, 2021 - December 22th, 2021) to the 8,594 members of Rare Diseases Sweden who had provided contact information. Members with a rare diagnosis and/or an informal caregiver to someone with a rare diagnosis was invited to complete the survey. Respondents under 16 were required to complete the survey together with an adult. The survey was distributed 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 17.26%. In this paper, we focused on the participants who indicated that they have an HSD/EDS diagnosis (\u003cem\u003en\u0026thinsp;=\u0026thinsp;277)\u003c/em\u003e. Responses were anonymous, so we have not confirmed their diagnosis with their patient records.\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eParticipants\u003c/h3\u003e\n\u003cp\u003eParticipants were individuals who reported having EDS\u0026mdash;but did not disclose what type, and may include all subtypes and HSD\u0026mdash;and who had experience of the Swedish healthcare system. To achieve this sample, we took the question \u0026ldquo;What diagnosis(ies) do you have?\u0026rdquo; and selected only participants who indicated \u0026ldquo;Ehlers Danlos Syndrome (EDS)\u0026rdquo; (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;304), and excluded those who answered from an informal caregiver perspective rather than someone living with HSD/EDS (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;588). This resulted in a total sample of 277 patients with HSD/EDS (see Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eEDS sample compared to initial survey sample.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eTotal sample\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003eEDS sample\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eSample size\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1 483\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e277\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colspan=\"3\" nameend=\"c3\" namest=\"c1\"\u003e\u003cp\u003e\u003cb\u003eCompleting survey for \u0026hellip;\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMyself as someone with a rare disease\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e685 (46.19%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e119 (42.96%)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMyself as someone with a rare disease and as a family member to someone with a rare diagnosis\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e210 (14.16%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e78 (28.16%)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eDiagnosed with EDS\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e304 (20.40%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e277 (100%)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003ctfoot\u003e\u003ctr\u003e\u003ctd colspan=\"3\"\u003e\u003cem\u003eNote\u003c/em\u003e: For exact wording of the survey items, refer to Appendix 2 and 3.\u003c/td\u003e\u003c/tr\u003e\u003c/tfoot\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\n\u003ch3\u003eAnalysis\u003c/h3\u003e\n\u003cp\u003eTo analyze HSD/EDS patients\u0026rsquo; experience with healthcare in Sweden, we used 43 questions from Rare Diseases Sweden\u0026rsquo;s 2021 member survey based on their relevance to EDS (see Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e2\u003c/span\u003e). Analysis consisted of descriptives (count, percentage) summarized through frequency tables and in-text descriptions. Care needs and trust were presented in relation to time to diagnosis and education level. No statistical testing was conducted. On survey items that had missing responses, calculations were performed on available data only. Where \u003cem\u003e\u0026ldquo;I don\u0026rsquo;t know\u0026rdquo;\u003c/em\u003e or \u003cem\u003e\u0026ldquo;Not relevant\u0026rdquo;\u003c/em\u003e were possible answer options, these were not treated as missing data, but were instead reported. Analysis was carried out by JLL with input from AK in JASP v0.19.1.0 (\u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e). Datawrapper (app.datawrapper.de) and Miro\u0026copy; (\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e) were used for figures.\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\n\u003ch3\u003eEthical considerations\u003c/h3\u003e\n\u003cp\u003eScientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01). The survey responses were anonymous. Informed consent was acquired. Participants could withdraw from the study at any point by exiting the survey.\u003c/p\u003e"},{"header":"RESULTS","content":"\u003cp\u003eSurvey results were translated and are 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.\u003c/p\u003e\u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\u003ch2\u003eSocio-demographic characteristics and health status\u003c/h2\u003e\u003cp\u003eOf the 277 HSD/EDS patients, most were women (95.29%), aged 55\u0026ndash;64 years (29.96%), which is in line with previous findings on unequal gender distribution of HSD/EDS as well as women\u0026rsquo;s increased tendency to participate in research more than men. The majority were born in Sweden (91.34%), working (70.91%) and college-educated (54.71%).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eSociodemographic characteristics.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eGender\u003c/b\u003e (\u003cem\u003en\u0026thinsp;=\u0026thinsp;276\u003c/em\u003e)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eWoman\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e263\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e95.29\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMan\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e11\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3.97\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther \u003csup\u003e1\u003c/sup\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.72\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eAge\u003c/b\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e6 years or younger\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.36\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e7\u0026nbsp; \u0026ndash; 11 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e12\u0026ndash;18 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.72\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e19\u0026ndash;24 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.36\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e25\u0026ndash;34 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e20\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.46\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e35\u0026ndash;44 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e62\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e22.46\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e45\u0026ndash;54 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e75\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e27.08\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e55\u0026ndash;64 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e83\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e29.96\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e65\u0026ndash;74 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e28\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e10.14\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e75 years or older\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.45\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eCountry of birth\u003c/b\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSweden\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e253\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e91.34\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNorthern Europe (not Sweden)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e9\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3.26\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eEurope (not Northern)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e8\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.90\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eGlobal (not Europe)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e6\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.17\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eHighest level of education\u003c/b\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eCurrently in pre-/primary school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.36\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePrimary school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e15\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5.43\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSpecial education, Primary school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSecondary education/High school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e88\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e31.88\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSpecial education, Secondary/High school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eHigher education/University/College\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e151\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e54.71\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e13\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e4.71\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePrefer not to specify\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.09\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eEmployment status\u003c/b\u003e\u0026nbsp; (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;165)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eEmployed\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e117\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e70.91\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eUnemployed\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e19\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11.52\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eIn pre-school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.61\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eIn school\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e10\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e6.06\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther education\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.42\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.43\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003eUpon rating their health status, most respondents rated their health below the middle point (61.3%) and no one selected the highest value of \u0026ldquo;excellent\u003cem\u003e\u0026rdquo;\u003c/em\u003e (see Fig.\u0026nbsp;\u003cspan refid=\"Fig6\" class=\"InternalRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eMost respondents resided in Stockholm Region (18.18%), followed by Western G\u0026ouml;taland (12.36%), and Scania (10.18%) (see \u003cb\u003eAppendix 4\u003c/b\u003e, Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e1\u003c/span\u003e), which correspond to the counties with Sweden\u0026rsquo;s three most populous regions in descending order. The distribution reflects the distribution of all survey respondents (those with rare diseases other than HSD/EDS) and also the overall distribution of population in Sweden. Three respondents indicated that they currently resided outside of Sweden (1.09%).\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eDiagnostic Journey\u003c/h3\u003e\n\u003cdiv id=\"Sec10\" class=\"Section2\"\u003e\u003ch2\u003eExperience of EDS Diagnosis\u003c/h2\u003e\u003cp\u003eAll participants reported having one or more formal diagnosis(es) (of which HDS/EDS is listed), with 83.39% having all rare disease diagnoses listed in their patient records (see Table\u0026nbsp;\u003cspan refid=\"Tab4\" class=\"InternalRef\"\u003e3\u003c/span\u003e). Nearly all were diagnosed as adults, (94.2%), and over half (51.26%) indicated that it took more than a decade to receive a diagnosis since their first contact with healthcare for their symptoms. Thinking about their prognosis, a majority (202/276, 73.19%) responded that they do not have \u003cem\u003e\u0026ldquo;\u003c/em\u003esufficient knowledge about what life with the rare health condition will look like when they get older\u003cem\u003e\u0026rdquo;\u003c/em\u003e whereas 11.59% felt they did. When it came to estimating whether healthcare professionals are knowledgeable about their prognosis, most (212/275, 77.09%) responded \u003cem\u003e\u0026ldquo;\u003c/em\u003eNo.\u003cem\u003e\u0026rdquo;\u003c/em\u003e\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab4\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eExperience of EDS Diagnosis.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eFormal diagnosis for one or more rare diseases\u003c/b\u003e, (\u003cem\u003en\u0026thinsp;=\u0026thinsp;275\u003c/em\u003e)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes, and they are \u003cem\u003eall\u003c/em\u003e listed in my patient record\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e231\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e83.39\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes, and \u003cem\u003esome\u003c/em\u003e are listed in my patient record\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e37\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e13.36\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes, but \u003cem\u003enone\u003c/em\u003e are listed in my patient record\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e7\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.53\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, I have a rare disease but without a formal diagnosis\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eTime to diagnosis since first contact with healthcare due to EDS symptoms\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;277)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eUnder 6 months\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e18\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e6.50\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e7\u0026ndash;11 months\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e10\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3.61\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e1\u0026ndash;2 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e24\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e8.66\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e3\u0026ndash;4 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e23\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e8.30\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e4\u0026ndash;10 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e38\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e13.72\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOver 10 years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e142\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e51.26\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eI don\u0026rsquo;t know\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.08\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e19\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e6.86\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eAge when diagnosed\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eChildhood\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e6\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2.17\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTeens\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eAdulthood\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e260\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e94.20\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\u003ch2\u003eImpact of EDS\u003c/h2\u003e\u003cp\u003eAs seen in Table\u0026nbsp;\u003cspan refid=\"Tab5\" class=\"InternalRef\"\u003e4\u003c/span\u003e, over half of respondents worked reduced hours due to their diagnosis (69.91%), and half spent up to five hours weekly on self-care, i.e., care and administration related to your diagnosis (50.00%).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab5\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 4\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eImpact of EDS.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eImpact on work\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;216)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eReduced work (\u0026lt;\u0026thinsp;100%) due to EDS\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e151\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e69.91\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo reduced work (working 100%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e50\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e23.15\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eI don\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003eI don\u0026rsquo;t want to answer\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e15\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e6.95\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eHours spent in self-care per week\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;274)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e0\u0026ndash;1 hour\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e67\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e24.45\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e2\u0026ndash;5 hours\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e70\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e25.55\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e6\u0026ndash;10 hours\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e43\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e15.69\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e11\u0026ndash;20 hours\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e23\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e8.39\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e21 hours or more\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e21\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e7.66\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec12\" class=\"Section2\"\u003e\u003ch2\u003eGenetic Testing\u003c/h2\u003e\u003cp\u003eOnly a minority (15.22%) had been offered genetic testing, and almost all of them (14.86%) received it, see Table\u0026nbsp;\u003cspan refid=\"Tab6\" class=\"InternalRef\"\u003e5\u003c/span\u003e. Genetic testing led to a diagnosis in over half of the respondents (58.83%). For most, it was an MD in genetic care who informed them about the possibility of testing (39.02%) and who interpreted the results (41.46%), (see \u003cb\u003eAppendix 4\u003c/b\u003e, Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Among those who did not receive testing, over half expressed interest in it (61.27%).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab6\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 5\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eGenetic Testing.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eOffered genetic testing\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e42\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e15.22\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eWas not offered but would they have wanted it\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;233)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e143\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e61.27\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eReceived genetic testing\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e41\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e14.86\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTesting resulted in a rare disease diagnosis, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;41)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e24\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e58.83\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eFelt sufficiently informed prior, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;41)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e18\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e43.90\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003ctfoot\u003e\u003ctr\u003e\u003ctd colspan=\"3\"\u003e\u003cem\u003eNote\u003c/em\u003e: MD \u0026mdash; Medical doctor, RN \u0026mdash; registered nurse.\u003c/td\u003e\u003c/tr\u003e\u003c/tfoot\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec13\" class=\"Section2\"\u003e\u003ch2\u003eHealthcare Utilization and Experience\u003c/h2\u003e\u003cdiv id=\"Sec14\" class=\"Section3\"\u003e\u003ch2\u003eGeneral Care\u003c/h2\u003e\u003cp\u003eOver half of respondents reported receiving most of their care in primary care (59.42%), see Table\u0026nbsp;\u003cspan refid=\"Tab7\" class=\"InternalRef\"\u003e6\u003c/span\u003e, and about as many (59.64%) reported a need for a permanent care contact for care coordination. However, only 54.35% had one or more permanent care contacts. Among those who report having permanent care contacts, the most common one was an MD in primary care (82.78%), followed by a physiotherapist (53.64%) however, over a third did not feel their contacts were useful (39.07%). About 35.87% indicated having multiple permanent care contacts, indicating the need for higher-level coordination. A minority had received an individual care plan (29/276, 10.50%), including a description of care goals and timetable for treatments, either written (5.43%) or verbal (5.07%). Majority had not (214/276, 77.54%), and 9.06% were either unsure if they had a plan or unsure of what a care plan was. Among respondents, the vast majority (89.29%) had visited primary care in-person within the last six months (242/276), and 71.58% had done so more than once (194/271), see \u003cb\u003eAppendix 4\u003c/b\u003e, Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e2\u003c/span\u003e. Over half had been to another specialist (61.54%, 152/247) and the hospital (58.16%, 146/251).\u003c/p\u003e\u003cp\u003e.\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab7\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 6\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eUtilization and experience of general healthcare.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eProportion of care in primary care\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMajority\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e164\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e59.42\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMixed\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e49\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e17.75\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMinority\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e36\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e13.04\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003eNot relevant\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e27\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e9.78\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eNeed for permanent care contact(s)\u003c/b\u003e (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;275)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e164\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e59.64\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e44\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e16.00\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003eNot relevant\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e67\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e24.22\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eNumber of permanent care contacts\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMultiple\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e99\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e35.87\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOne\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e51\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e18.48\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNone, but I could use one\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e85\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e30.80\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNone, and not needed\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e9\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3.26\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eWhat is a permanent care contact?\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e16\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5.80\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNot relevant\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1.45\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e12\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e4.34\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eWho is/are the permanent care contact(s)\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;151) *\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMD in primary care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e125\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e82.78\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMD in other specialty care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e63\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e41.72\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eRN in primary care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e18\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11.92\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eRN in other specialty care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e20\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e13,25\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePsychologist\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e19\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e12.58\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSocial worker\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e13\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e8.61\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePhysiotherapist\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e81\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e53.64\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e25\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e16.56\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo response\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0.66\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eUsefulness of permanent care contact\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes, they are helpful in coordinating my care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e50\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e33.11\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, they are not helpful in coordinating my care\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e59\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e39.07\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\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\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e42\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e27.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cem\u003e*\u003c/em\u003e Multiple-choice question, so percentages will not add up to 100%.\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv id=\"Sec15\" class=\"Section2\"\u003e\u003ch2\u003eDental Care\u003c/h2\u003e\u003cp\u003eTable\u0026nbsp;\u003cspan refid=\"Tab8\" class=\"InternalRef\"\u003e7\u003c/span\u003e shows a snapshot of respondents' contact and experience with dental care. Roughly two-thirds of respondents reported regular contact with dental care (71.38%), defined as visiting at least once per year. The most common reason to have abstained from dental care was due to cost (41.52%).\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab8\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 7\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eExperience with dental care.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eCount\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e%\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eRegular contact with dental care\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;276)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes, annually\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e197\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e71.38\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, not annually\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e74\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e26.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eDon\u0026rsquo;t know\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e1.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eAbstaining from dental care\u003c/b\u003e, (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;277) *\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e277\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, never abstained\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e131\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e47.29\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eBecause of cost/expensive\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e115\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e41.52\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther reason\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e46\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e16.61\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eBecause too far/long trip\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e7\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e2.53\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eBecause of time\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e5\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e1.81\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNot relevant\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e1.08\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cem\u003eDon\u0026rsquo;t know\u003c/em\u003e or \u003cem\u003ePrefer not to specify\u003c/em\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\u003cp\u003e1.44\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec16\" class=\"Section2\"\u003e\u003ch2\u003eCare Needs\u003c/h2\u003e\u003cp\u003eNearly half agreed \u0026ldquo;somewhat\u0026rdquo; (27.27%) or \u0026ldquo;strongly\u0026rdquo; (21.09%) that they have been denied care (e.g. not admitted to an emergency department or not received treatment for a common ailment like a sore throat) because of their rare disease (133/275, 48.17%). When asked whether they have access to habilitation, most responded \u0026ldquo;no, but want habilitation\u0026rdquo; (105/275, 38.18%), and 25.82% responded \u0026ldquo;unsure.\u0026rdquo; Only 12.36% (34/275) reported having habilitation access, and 18.77% felt there was \u0026ldquo;no need\u0026rdquo; (52/275). Half did not feel that they had access to the healthcare they needed (139/277, 50.18%), compared to 38.99% who somewhat or strongly felt that they did have access (108/277). Respondents were split when estimating whether their care needs were met, with half of all responses (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;275) answering that their care needs were not met (50.55%). Dividing the sample based on time to diagnosis and education level retained the trend, with most not having their care needs met (see \u003cb\u003eAppendix 4\u003c/b\u003e, Fig.\u0026nbsp;\u003cspan refid=\"Fig6\" class=\"InternalRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec17\" class=\"Section2\"\u003e\u003ch2\u003ePerceptions and Trust for Healthcare\u003c/h2\u003e\u003cdiv id=\"Sec18\" class=\"Section3\"\u003e\u003ch2\u003eOpinions about Healthcare\u003c/h2\u003e\u003cp\u003eWith regard to their future with EDS, nearly half responded that they do not feel there is enough \u0026ldquo;help and support from healthcare and public services\u0026rdquo; for when they get older (128/276, 46.38%), and 50.0% were unsure (138/276). Half felt that healthcare encourages disease prevention and health promotion to a \u0026ldquo;small degree\u0026rdquo; or \u0026ldquo;not at all\u0026ldquo; (139/274, 50.73%), whereas about a third responded to a \u0026ldquo;very high\u0026rdquo;/\u0026rdquo;high\u003cem\u003e\u0026rdquo;\u003c/em\u003e degree (96/274, 35.03%). As seen in Fig.\u0026nbsp;\u003cspan refid=\"Fig8\" class=\"InternalRef\"\u003e4\u003c/span\u003e, HSD/EDS patients reported in 15.16% of cases that they do \u003cem\u003enot\u003c/em\u003e perceive easy access to a healthcare professional (HCP) when needed, and only 14.08% of respondents reported satisfactory (\u0026ldquo;strongly agree\u0026rdquo;/\u0026rdquo;agree\u0026rdquo;) coordination of healthcare contacts. About one fourth disagreed that care is adapted to their needs (26.35%) and that they receive healthcare support in self-care (24.28%).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv id=\"Sec19\" class=\"Section2\"\u003e\u003ch2\u003eTrust for Healthcare\u003c/h2\u003e\u003cp\u003eTrust for healthcare services and HCPs was overall low. Combining trust ratings \u003cem\u003e\u0026ldquo;very high\u0026rdquo;\u003c/em\u003e and \u003cem\u003e\u0026ldquo;high\u0026rdquo;\u003c/em\u003e, most valued were: hospital HCPs (109/276, 39.49%), HCPs in general (93/275, 33.45%), and primary care HCPs (85/276, 30.79%). In comparison, healthcare services always received less than 30% trust levels, see \u003cb\u003eAppendix 4\u003c/b\u003e, Fig.\u0026nbsp;\u003cspan refid=\"Fig8\" class=\"InternalRef\"\u003e4\u003c/span\u003e.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec20\" class=\"Section2\"\u003e\u003ch2\u003eInformation Sources\u003c/h2\u003e\u003cp\u003eJust under half (127/276, 46.01%) reported that they are \u003cem\u003e\u0026ldquo;not lacking information\u0026rdquo;\u003c/em\u003e about their rare disease, compared to 35.51% (98/276) who reported they \u003cem\u003e\u0026ldquo;are lacking information.\u0026rdquo;\u003c/em\u003e When asked to choose their top three best sources of information about their rare diagnosis, respondents selected \u003cem\u003e\u0026ldquo;Other networks\u0026rdquo;\u003c/em\u003e (150/276, 54.35%), Google (115/276, 41.42%), and the \u003cem\u003eRare Diseases Sweden, the Swedish national alliance for people living with rare diseases (Riksf\u0026ouml;rbundet s\u0026auml;llsynta diagnoser)\u003c/em\u003e (112/276, 40.58%). The university hospitals\u0026rsquo; rare diseases \u0026ldquo;Expert Team\u0026rdquo; (77/275, 28.9%) places fourth and the National Board of Health and Welfare (\u0026Aring;grenska) knowledge database for rare health conditions (71/276, 25.72%) and social media (70/276, 25.36%) tied fifth. Blogs, friends, medical doctors, a rare diagnosis expert team, and other healthcare professionals each were reported below 13%.\u003c/p\u003e\u003c/div\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eOur findings provide insight into the experiences of HSD/EDS patients in Sweden with diagnosis and healthcare services. Our findings show that a significant number face diagnostic delays, as well as access and care coordination challenges. Half of respondents felt their care needs were met, yet nearly half reported having been denied basic care (including for symptoms unrelated to HDS/EDS) due to their HSD/EDS. Regarding the quality of care received, about a quarter disagreed that care is adapted to their needs or that they receive support in self-care. The most negative perception was towards coordination of healthcare contacts. These challenges were reflected in respondents\u0026rsquo; level of trust for healthcare, which was overall low.\u003c/p\u003e\u003cdiv id=\"Sec22\" class=\"Section2\"\u003e\u003ch2\u003eDiagnostic Journey\u003c/h2\u003e\u003cp\u003eOnly a small portion received genetic testing, which is likely a reflection of their disease presentation, and whether they showed signs and symptoms suggestive of cEDS/vEDS, which would qualify them for genetic testing (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e). Due to the severity in nature, respondents who tested might also spend more time in specialized care and self-care, and have a different experience of healthcare than those with other subtypes, especially the more common hEDS. Of those tested, the majority resulted in a diagnosis. Even among those likely with more common HDS/hEDS (i.e. who did not test), however, HSD/EDS appears to greatly impact respondents\u0026rsquo; daily lives, with most rating their health status closer to \u0026ldquo;poor\u0026rdquo; than \u0026ldquo;excellent. Consistent with another study on hEDS patients, over half of all employed respondents reduced their hours because of their diagnosis (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e).\u003c/p\u003e\u003cdiv id=\"Sec23\" class=\"Section3\"\u003e\u003ch2\u003eHealthcare Utilization and Experience\u003c/h2\u003e\u003cdiv id=\"Sec24\" class=\"Section4\"\u003e\u003ch2\u003eGeneral care\u003c/h2\u003e\u003cp\u003eOver half of respondents received the majority of their care in primary care and had visited within the last six months, and trust in healthcare was lowest for primary care (staff and services). Among the 54.35% who had a permanent care contact, a primary care physician was most common. Only a minority had received a care plan, written or verbal, which is likely in part because creating a care plan requires a permanent care contact, which nearly half were lacking. Furthermore, a care plan is not required within rare diseases, though it is encouraged, with efforts to make common practice (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e). Additionally, HDS/hEDS are commonly not considered rare diseases, which may be why those respondents are without. Wider efforts to co-create a care plan might help improve treatment, raise the level of patient knowledge and care satisfaction related to their HSD/EDS. Effective patient-provider communication regarding disease management has been found to impact patient psychological and physical health (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eIn this context, self-management models \u0026mdash; such as group-learning approaches tested in other patient groups \u0026mdash; offer a promising complement to standard care. Such approaches demonstrate that when a HCP takes on a facilitator role rather than attempting to \u0026ldquo;have all the answers,\u0026rdquo; patients feel more empowered, better able to cope, and more involved in shared decision-making. This model may be particularly applicable and mutually beneficial in the context of diseases like EDS/HSD, where patient knowledge often exceeds that of their clinicians (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e).\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv id=\"Sec25\" class=\"Section3\"\u003e\u003ch2\u003eDental care\u003c/h2\u003e\u003cp\u003eDental care access was relatively high, with the majority (71.38%) seeing a dentist annually, which is higher than the general Swedish population. In 2019, nearly 56% of adults over 23 in Sweden visited the dentist annually (\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e). The COVID-19 pandemic resulted in a 16% drop in visits in 2020 (\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e), although even in 2023, the numbers had not returned to pre-pandemic (\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e). The number of Swedes visiting the dentist annually has been steadily declining over the last decade across socioeconomic classes and location (\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e). However, dental health and frequency of visits is still generally lower among those with socioeconomic challenges, which is also reflected in our data, with cost being the most commonly reported barrier to dental care. The more frequent visits among our respondents may be due to heightened oral health risks associated with EDS; dental health is especially important for people with EDS, as studies have found poorer oral-health outcomes among those with HSD/EDS, impacting quality of life (\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e). Women with EDS reported greater mouth pain and discomfort during meals due to the disease (\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e). Dentists tend to lack knowledge of how EDS may impact oral health, and research on specific dental impacts of EDS subtypes is limited (\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e). Additionally, women have been found to visit the dentist slightly more frequently than men (\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e) and our respondents were mostly women.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec26\" class=\"Section3\"\u003e\u003ch2\u003ePerceptions and Trust for Healthcare\u003c/h2\u003e\u003cp\u003ePerceptions of healthcare among those with HSD/EDS were notably poorer compared to the general Swedish population, as reported in a survey carried out the same year (\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e). While 88% of the general population indicated in 2021 that they had access to the healthcare they needed, only 39% of those with HSD/EDS who \u0026ldquo;somewhat\u0026rdquo; or \u0026ldquo;strongly\u0026rdquo; felt that they had access to the healthcare they needed (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;108/277). Similarly, 69% of Swedish residents responded that they have a \u0026ldquo;very high\u003cem\u003e\u0026rdquo;\u003c/em\u003e or \u0026ldquo;fairly high\u0026rdquo; level of trust in the healthcare system as a whole in their own region, whereas 28% of those with HSD/EDS indicated \u0026ldquo;very\u0026rdquo;/\u0026rdquo;fairly high\u0026rdquo; levels of trust. Among HSD/EDS patients, trust was generally higher for healthcare professionals than for services, with the highest trust reported for hospital HCPs and the lowest being for primary care. This trend might reflect a feeling of shortcoming within the system, rather than a fault of individual HCPs. Research suggests that patients and HCPs alike value the \u003cem\u003eprocesses\u003c/em\u003e above structures and outcomes when judging healthcare quality, with motivated and knowledgeable HCPs being key aspects. In contrast to HCPs, though, patients were found to prioritize person-centered care, and HCPs who communicate in an \u0026ldquo;interpersonally adaptive way,\u0026rdquo; showing empathy and recognition for individual needs (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e).\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec27\" class=\"Section3\"\u003e\u003ch2\u003eDisease knowledge and credibility\u003c/h2\u003e\u003cp\u003eAccording to current knowledge, HSD/EDS is reported more than twice as often in women than men (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e), which is reflected in our data. Most respondents were diagnosed as adults, which reflects the fact that symptoms most commonly present in adulthood and that in keeping with international guidelines, Swedish MDs avoid diagnosing children with EDS (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). However, it took about half of respondents over 10 years to receive a diagnosis. This long diagnosis journey is unfortunately not uncommon (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e). A survey of women with EDS in Australia found that over half had noticed symptoms more than 15 years prior to diagnosis, and the majority had received another diagnosis prior to EDS (\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e). This delay may simply be due to the rarity of the disease, as the few men who responded to our survey also mostly had a long diagnosis journey, suggesting a need for increasing HDS/EDS awareness and recognition among HCPs. However, there could also be gender aspects at play; women and girls are more likely than males to experience chronic pain, and more likely to be met with skepticism by healthcare (\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e). Chronic pain and fatigue commonly accompany EDS/HDS; individuals with EDS, especially hEDS, are often misdiagnosed with fibromyalgia or depression (\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e), which are common comorbidities (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e) and all conditions with gender disparities. Australian women with EDS felt that their health complaints were not listened to, and that after self-educating, many felt they had to educate their healthcare professional(s) about EDS (\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eResearch indicates that patients with a rare disease tend to have a higher level of knowledge regarding their condition than the average patient, and in many cases even more than their HCP (\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e), again highlighting the need for improved HCP education. Patients often report being taken more seriously after receiving an official diagnosis, with a \u0026ldquo;biological marker\u0026rdquo; (in this case a genetic test), further validating their experiences and struggles. Numerous studies document the challenges people with chronic pain face due to lacking objective measures, or the \u0026ldquo;invisibility\u0026rdquo; of their symptoms (\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e). This might explain why the majority of our respondents who were not offered genetic testing wanted it.\u003c/p\u003e\u003cp\u003eThe fact that so many wanted genetic testing may also suggest a need for improved healthcare communication and clearer guidance on the diagnostic process, EDS subtypes, as well as information about the knowledge \u0026mdash; or lack thereof \u0026mdash; about genetic causes and therefore possibilities and limitations for genetic testing. Even after diagnosis, the availability of information about EDS was lacking, as fewer than half reported having sufficient information about their disease. This points to a need for better access to comprehensive, patient-centered education within healthcare. Very few reported a healthcare professional as a key information source, with around 40% turning to Google and Rare Diseases Sweden. This lack of healthcare professionals as sources may be due to the fact that most respondents receive a large portion of care within primary care, and the system is set-up for primary care to refer HDS/EDS patients to clinical geneticists for diagnosis, of which there is a shortage. As a result, primary care professionals might not feel equipped to provide detailed information, and respondents might not see specialists often enough to consider a key information source.\u003c/p\u003e\u003cp\u003eAdditionally, turning to \u0026lsquo;Dr Google\u0026rsquo; or an LLM Chatbot is common practice these days, and research suggests that for rare diseases, \u0026lsquo;Dr Google\u0026rsquo; is often more accurate than a physician (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e). Goldberg argues that Google is perhaps preferable to ChatGPT, as there is more transparency around sources (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e), though further insights into how persons with rare disease use LLM Chatbots is needed. Relying heavily on internet resources, however, has long been discussed as a risk for misinformation and undue anxiety, although most research is on the general public and not individuals with a rare disease. Ashtari and Taylor (\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e) found that individuals with rare diseases, including EDS, often developed high confidence in their ability to assess and share online information, partly in response to inconsistent or inadequate support from HCPs. Recent research by Halverson et al. (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e) on individuals with hEDS highlights how patients actively use social media and online platforms not only to seek medical information, but also to find validation and connect with others. Their findings also underscore the potential downsides of this reliance, including the spread of misinformation and the emotional toll of constantly engaging with illness-related content (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003cb\u003eLimitations\u003c/b\u003e\u003c/p\u003e\u003cp\u003eThis survey reflects the experiences of the members of the Swedish National Alliance of Rare Diseases. Those who are members are likely better connected to support services and health-specific education than those who are not members, and therefore those not represented in this study can be expected to face even bigger challenges in their access to and satisfaction with HCP services. It may also be that individuals who have experienced gaps and frustrations with the healthcare system turn to networks.\u003c/p\u003e\u003cp\u003eData were collected at the end of 2021, coming out of the COVID-19 pandemic, meaning that any influence the pandemic had would likely influence respondents' reports. Additionally, we do not know what year respondents were diagnosed and what HSD or EDS-diagnosis they received, and the awareness and diagnosis process have changed since then, something to consider when interpreting certain questions. Another aspect which has changed over the years is the classification of subtypes of EDS. Currently, all types except HSD and hEDS are diagnosed/confirmed through genetic testing.\u003c/p\u003e\u003cp\u003eSurvey 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. While there may be a gender imbalance in the sample, EDS is more prevalent among women, and women generally participate in research more frequently than men, which may partially account for this. Additionally, the regional distribution of respondents largely mirrors Sweden\u0026rsquo;s population distribution, supporting the geographic representativeness of the findings; however, the low overall response rate may still limit the generalizability of results.\u003c/p\u003e\u003cp\u003e\u003cb\u003eFuture directions\u003c/b\u003e\u003c/p\u003e\u003cp\u003eOur findings echo that of others in that many individuals with rare diseases face a long diagnostic journey followed by challenges within healthcare and public services. Healthcare flow must be improved to better EDS patients\u0026rsquo; experiences. Examples of integrated care solutions across Europe may serve as a useful blueprint to improving experiences for HDS/EDS patients in Sweden (\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eImproved education for primary healthcare providers is needed to shorten the diagnostic journey (\u003cspan citationid=\"CR42\" class=\"CitationRef\"\u003e42\u003c/span\u003e). Following diagnosis, group-based educational interventions\u0026mdash;modeled on those used in other chronic conditions\u0026mdash;could support self-management, improve patient knowledge and autonomy, and strengthen patient\u0026ndash;clinician communication, ultimately enhancing care satisfaction without adding burden to healthcare providers (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e).HSD/EDS disproportionately impacts women, and women are known to more commonly participate in research. Therefore, it is important for future research to capture any potential differing needs of the male patients with HSD/EDS. Likewise, further research is needed looking into the EDS subtypes and what differing experiences and care needs there may be, especially compared to the more common hEDS. Finally, further research is needed to better understand the underexplored experiences and needs of caregivers supporting individuals with EDS and HSD.\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis study provides insights into how HSD/EDS patients in Sweden experience healthcare services, an area of research which is lacking. The long diagnostic process and reported denial of care due to their HSD/EDS reflect challenges this patient group faces in their diagnostic and disease journey. Cost of dental services was a reported barrier, which is crucial to address due to the heightened risk for complications among this patient group. Our results suggest that efforts including healthcare professional education are needed to reduce the time to diagnosis and reduce barriers to care post diagnosis; this would likely increase trust and care satisfaction, which were generally low. Primary care should be a priority, as most respondents receive the majority of their care there, and trust rated the lowest for primary care.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eEDS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eEhlers\u0026ndash;Danlos Syndrome\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003ecEDS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eClassical Ehlers\u0026ndash;Danlos Syndrome\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003ehEDS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eHypermobility Ehlers\u0026ndash;Danlos Syndrome\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003evEDS\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eVascular Ehlers\u0026ndash;Danlos Syndrome\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eGP(s)\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eGeneral practitioner(s)\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eHCP(s)\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eHealthcare professional(s)\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eHTCD\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eHeritable disorder of connective tissue\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eHSD\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eHypermobility spectrum disorders\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eMD\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eMedical doctor\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eRN\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eRegistered nurse\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"DefinitionListEntry\"\u003e\u003cdiv class=\"Term\"\u003eLLM\u003c/div\u003e\u003cdiv class=\"Description\"\u003e\u003cp\u003eLarge language model\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e"},{"header":"Declarations","content":"\u003ch2\u003eEthics approval and consent to participate\u003c/h2\u003e\n\u003cp\u003eScientific analysis of survey results received ethical approval from the Ethical Review Authority in Sweden (Approval #2023-06900-01). Use of personal data was in compliance with the Helsinki Declaration (https://www.wma.net/policies-post/wma-declaration-of-helsinki/).\u003c/p\u003e\n\u003ch2\u003eConsent for publication\u003c/h2\u003e\n\u003cp\u003eNot Applicable.\u003c/p\u003e\n\u003ch2\u003eAvailability of data and materials\u003c/h2\u003e\n\u003cp\u003eThe datasets analyzed during the current study are available from the corresponding author on reasonable request.\u0026nbsp;\u003c/p\u003e\n\u003ch2\u003eCompeting interests\u003c/h2\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003ch2\u003eFunding\u003c/h2\u003e\n\u003cp\u003eNone\u003c/p\u003e\n\u003ch2\u003eAuthors\u0026apos; contributions\u003c/h2\u003e\n\u003cp\u003eSJ designed and disseminated the survey with collaborators including CIM and MJS. JLL analyzed the survey data with assistance from AK, CIM, and MJS and the data was interpreted in discussion among all authors. PB wrote the introduction, and JLL wrote the main draft of the other sections and constructed the figures/tables. All authors contributed revisions and all read and approved the final manuscript.\u003c/p\u003e\n\u003ch2\u003eAcknowledgements\u003c/h2\u003e\n\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).\u0026nbsp;\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eMalfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers\u0026ndash;Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8\u0026ndash;26.\u003c/li\u003e\n \u003cli\u003eBaeza-Velasco C, Cohen D, Hamonet C, Vlamynck E, Diaz L, Cravero C, et al. Autism, Joint Hypermobility-Related Disorders and Pain. Front Psychiatry. 2018 Dec 7;9:656.\u003c/li\u003e\n \u003cli\u003eCastori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148\u0026ndash;57.\u003c/li\u003e\n \u003cli\u003eHakim A, Grahame R. Joint hypermobility. Best Pract Res Clin Rheumatol. 2003 Dec;17(6):989\u0026ndash;1004.\u003c/li\u003e\n \u003cli\u003eCastori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr. 2017 Dec;29(6):640\u0026ndash;9.\u003c/li\u003e\n \u003cli\u003eHalverson CME, Clayton EW, Garcia Sierra A, Francomano C. Patients with Ehlers\u0026ndash;Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero\u0026rsquo;s journey. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):416\u0026ndash;24.\u003c/li\u003e\n \u003cli\u003eTinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, et al. Hypermobile Ehlers\u0026ndash;Danlos syndrome (a.k.a. Ehlers\u0026ndash;Danlos syndrome Type III and Ehlers\u0026ndash;Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48\u0026ndash;69.\u003c/li\u003e\n \u003cli\u003eKulas S\u0026oslash;borg ML, Leganger J, Quitzau Mortensen L, Rosenberg J, Burcharth J. Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers\u0026ndash;Danlos syndrome. Rheumatology. 2017 Jan 11;kew478.\u003c/li\u003e\n \u003cli\u003eDemmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case\u0026ndash;control comparison. BMJ Open. 2019 Nov;9(11):e031365.\u003c/li\u003e\n \u003cli\u003eHakim AJ, Tinkle BT, Francomano CA. Ehlers\u0026ndash;Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities : Reports from EDS ECHO. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):413\u0026ndash;5.\u003c/li\u003e\n \u003cli\u003eBowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers\u0026ndash;Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27\u0026ndash;39.\u003c/li\u003e\n \u003cli\u003eByers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers\u0026ndash;Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40\u0026ndash;7.\u003c/li\u003e\n \u003cli\u003ese. V\u0026aring;rdgaranti [Internet]. 2024. 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Available from: https://csdsamverkan.se/halsoochsjukvard/vardtips/vardtips/tipsvardplan.5.31305b8f178fec5d5c8540f.html\u003c/li\u003e\n \u003cli\u003eToole J, Kohansieh M, Khan U, Romero S, Ghali M, Zeltser R, et al. Does Your Patient Understand Their Treatment Plan? Factors Affecting Patient Understanding of Their Medical Care Treatment Plan in the Inpatient Setting. J Patient Exp. 2020 Dec;7(6):1151\u0026ndash;7.\u003c/li\u003e\n \u003cli\u003eTANDH\u0026Auml;LSORAPPORTEN 2021: Om svensk tandv\u0026aring;rd och tandh\u0026auml;lsa idag [Internet]. AQUADENTAL; 2021. Available from: https://www.tandhalsorapporten.se/\u003c/li\u003e\n \u003cli\u003eStatistik om tandh\u0026auml;lsa 2023 [Internet]. Socialstyrelsen; 2024. Available from: https://www.socialstyrelsen.se/globalassets/sharepoint-dokument/artikelkatalog/statistik/2024-5-9100.pdf\u003c/li\u003e\n \u003cli\u003eBerglund B, Bj\u0026ouml;rck E. Women with Ehlers-Danlos syndrome experience low oral health-related quality of life. J Orofac Pain. 2012;26(4):307\u0026ndash;14.\u003c/li\u003e\n \u003cli\u003eHanisch M, Blanck-Lubarsch M, Bohner L, Suwelack D, Kleinheinz J, K\u0026ouml;ppe J. Oral Conditions and Oral Health-Related Quality of Life of People with Ehlers-Danlos Syndromes (EDS): A Questionnaire-Based Cross-Sectional Study. Med Kaunas Lith. 2020 Sep 4;56(9):448.\u003c/li\u003e\n \u003cli\u003eLepperdinger U, Zschocke J, Kapferer‐Seebacher I. Oral manifestations of Ehlers‐Danlos syndromes. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):520\u0026ndash;6.\u003c/li\u003e\n \u003cli\u003eH\u0026auml;lso- och sjukv\u0026aring;rdsbarometern 2021 [Internet]. Sveriges Kommuner och Regioner; 2022. Available from: https://skr.se/skr/tjanster/rapporterochskrifter/publikationer/halsoochsjukvardsbarometern2021.64997.html\u003c/li\u003e\n \u003cli\u003eHannawa AF, Wu AW, Kolyada A, Potemkina A, Donaldson LJ. The aspects of healthcare quality that are important to health professionals and patients: A qualitative study. Patient Educ Couns. 2022 Jun;105(6):1561\u0026ndash;70.\u003c/li\u003e\n \u003cli\u003eTrudgian R, Flood T. An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia. Matsumura ME, editor. PLOS ONE. 2024 Jul 25;19(7):e0307574.\u003c/li\u003e\n \u003cli\u003eeClinicalMedicine. Gendered pain: a call for recognition and health equity. eClinicalMedicine. 2024 Mar;69:102558.\u003c/li\u003e\n \u003cli\u003eMiklovic T, Sieg V. Ehlers-Danlos Syndrome. In: StatPearls [Internet] [Internet]. Treasure Island (FL): StatPearls Publishing; 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/\u003c/li\u003e\n \u003cli\u003eBudych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient\u0026ndash;physician interaction. Health Policy. 2012 May;105(2\u0026ndash;3):154\u0026ndash;64.\u003c/li\u003e\n \u003cli\u003eDow CM, Roche PA, Ziebland S. Talk of frustration in the narratives of people with chronic pain. Chronic Illn. 2012 Sep;8(3):176\u0026ndash;91.\u003c/li\u003e\n \u003cli\u003eGoldberg I. Dr. Google will see you now: But will he make you sick? Taiwan J Ophthalmol. 2024 Jul;14(3):371\u0026ndash;5.\u003c/li\u003e\n \u003cli\u003eRare Diseases Europe (EURORDIS). Integrated care for rare diseases: A practical approach to support the implementation of integrated care for rare diseases [Internet]. Paris: EURORDIS; 2018 [cited 2025 Jun 16]. Available from: https://innovcare.eu/wp-content/uploads/2018/04/Integrated_care_for_RD_infographics_FINAL.pdf\u003c/li\u003e\n \u003cli\u003eAshtari K, Taylor JR. Use of complementary and alternative medicine by patients with hypermobile Ehlers\u0026ndash;Danlos syndrome: a qualitative study. \u003cem\u003eFront Med (Lausanne)\u003c/em\u003e. 2023 Jan;9:1053466. doi:10.3389/fmed.2023.1053466. [cited 2025 Jun 16]. Available from: https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1053466/full\u003c/li\u003e\n \u003cli\u003eHalverson CME, Doyle TA, Vershaw S. Social media use by patients with hypermobile Ehlers\u0026ndash;Danlos syndrome. \u003cem\u003eMol Genet Genomic Med\u003c/em\u003e. 2024 Jun;12(6):e2467. doi:10.1002/mgg3.2467.\u003c/li\u003e\n \u003cli\u003eMulvey, M. R., G. J. Macfarlane, M. Beasley, et al. 2013. \u0026ldquo;Modest Association of Joint Hypermobility With Disabling and Limiting Musculoskeletal Pain: Results From a Large-Scale General Population-Based Survey.\u0026rdquo; Arthritis Care \u0026amp; Research (Hoboken) 65, no. 8: 1325\u0026ndash;1333. https://doi.org/10.1002/acr.21979.\u003c/li\u003e\n \u003cli\u003ePetersson C, Nyg\u0026aring;rdh A, Hedberg B. To support self‑management for people with long‑term conditions \u0026ndash; The effect on shared decision‑making, empowerment and coping after participating in group‑learning sessions. \u003cem\u003eNurs Open\u003c/em\u003e. 2022 May;9(5):2444\u0026ndash;53. doi:10.1002/nop2.1261.\u003c/li\u003e\n \u003cli\u003evon Elm E, Altman DG, Egger M, Pocock SJ, G\u0026oslash;tzsche PC, Vandenbroucke JP; STROBE Initiative. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. \u003cem\u003eInt J Surg\u003c/em\u003e. 2014;12(12):1495\u0026ndash;9.\u003c/li\u003e\n \u003cli\u003e\u003cstrong\u003eJASP Team. JASP (Version 0.19.3) [computer software]. 2024. https://jasp-stats.org\u003c/strong\u003e\u003c/li\u003e\n \u003cli\u003eMiro [Internet]. Amsterdam (NL): Miro; c2024 [cited 2025 Jun 17]. Available from: https://miro.com/\u003c/li\u003e\n \u003cli\u003eDoolan BJ, Lavallee ME, Hausser I, Schubart JR, Pope FM, Seneviratne SL, et al. Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review. \u003cem\u003eFront Med (Lausanne)\u003c/em\u003e. 2023;10:1053466. doi:10.3389/fmed.2023.1053466.\u003c/li\u003e\n \u003cli\u003eBecker R. Gender and survey participation: an event-history analysis of the gender effects of survey participation in a probability-based multi-wave panel study with a sequential mixed-mode design. \u003cem\u003eMethods Data Anal Anal\u003c/em\u003e. 2022;16(1):3\u0026ndash;32. doi:10.12758/mda.2021.08.\u003c/li\u003e\n \u003cli\u003eEggen AE, Mathiesen EB, Wilsgaard T, Jacobsen BK, Thelle DS, Hopstock LA, et al. The Troms\u0026oslash; Study: attendance and sociodemographic characteristics in the 2007\u0026ndash;08 survey (Troms\u0026oslash; 6). \u003cem\u003eScand J Public Health\u003c/em\u003e. 2013;41(1):65\u0026ndash;80.\u003c/li\u003e\n \u003cli\u003eVidic N, McGlynn A, Abdi F, Tam CWM, Crampton RM, Lim KS, Palmer EE, Taylor N, Harris‑Roxas B. Integrated care for people living with rare disease: a scoping review on primary care models in Organization for Economic Cooperation and Development countries. \u003cem\u003eJ Prim Care Community Health\u003c/em\u003e. 2025;16:21501319241311567. doi:10.1177/21501319241311567.\u003c/li\u003e\n \u003cli\u003eSveriges Kommuner och Regioner (SKR). \u003cem\u003eH\u0026auml;lso- och sjukv\u0026aring;rdsbarometern 2020: Befolkningens syn p\u0026aring; svensk h\u0026auml;lso- och sjukv\u0026aring;rd\u003c/em\u003e [Internet]. Stockholm: SKR; 2021 [cited 2025 Jun 16]. Available from: https://skr.se/halso-sjukvardsbarometern-2020\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"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":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Ehlers–Danlos syndrome, EDS, hypermobility syndrome, rare diseases, quality of life, quality of care, healthcare services, healthcare access, healthcare satisfaction, patient’s perception of care, cross-sectional survey, Hypermobility Spectrum Disorder, HSD","lastPublishedDoi":"10.21203/rs.3.rs-6334393/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6334393/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground: \u003c/strong\u003eLittle is known about the healthcare services experiences of people living with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorders (HSD) in Sweden. An investigation into how people with EDS in Sweden access and experience healthcare related to their diagnosis is needed to improve care services.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eObjective: \u003c/strong\u003eTo explore how people with HSD and EDS (HSD/EDS) use and perceive healthcare services in Sweden.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMethods: \u003c/strong\u003eAn anonymous survey was sent to members of Rare Diseases Sweden in November-December 2021. The descriptive analysis (counts, percentages) focused on data from 277\u003c/p\u003e\n\u003cp\u003erespondents who reported having an HSD/EDS or hypermobility diagnosis and who responded for themselves, as a patient.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults:\u003c/strong\u003e The majority of respondents were adult women, residing in one of the three most populous regions, diagnosed as an adult. Notably, about half reported being denied care due to their EDS diagnosis and as many experienced a long diagnostic journey of over 10 years. Fewer than half reported having sufficient information about HSD/EDS, and numerous shortcomings in the healthcare system were reported. One of the most agreed upon challenges was coordination of healthcare contacts, and about a quarter disagreed that care is adapted to their needs or that they receive support in self-care.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions: \u003c/strong\u003eOur results suggest education efforts, especially those that support self-management and shared decision-making, are needed to reduce the time to diagnosis and increase care access and experience post diagnosis; this would likely increase trust and care satisfaction. Primary care should be a priority, as most respondents receive the majority of their care there, and trust rated the lowest for primary care.\u003c/p\u003e","manuscriptTitle":"Patient Perspectives on Healthcare in Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: An Online Survey","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-09-23 07:54:58","doi":"10.21203/rs.3.rs-6334393/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"bca70266-5ada-49ca-9c3a-22b073300d38","owner":[],"postedDate":"September 23rd, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2026-05-18T06:55:15+00:00","versionOfRecord":[],"versionCreatedAt":"2025-09-23 07:54:58","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-6334393","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6334393","identity":"rs-6334393","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}