S M Webb et al. 11:12 e220385 REVIEW Patient journey experiences may contribute to improve healthcare for patients with rare endocrine diseases Susan M Webb 1,2,3,4, Jette Kristensen5, Anna Nordenström6, Diana Vitali7, Vincent Amodru8, Lenja Katharina Wiehe9 and Matt Bolz-Johnson9 1 IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain 2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain 3 Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain 4 Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain 5 ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark 6 Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden 7 ePAG & Chair SOD ITALIA - Italian Patients Organization for Septo Optic Dysplasia and other Neuroendocrine Conditions, Rome, Italy 8 Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France 9 EURORDIS - Rare Diseases Europe, Paris, France Correspondence should be addressed to S M Webb: webbsusan4@gmail.com; swebb@santpau.cat This paper forms part of a special series collated by European Reference Network on Rare Endocrine Conditions celebrating its fifth year. The guest editors for this section are Violeta Iotova, Jérôme Berherat, and George Mastorakos. Abstract Patient journeys are instruments developed by EURORDIS, The Voice of Rare Disease Key Words Patients in Europe, to collect patients’ experiences; they may identify gaps and areas f health perception deserving improvement, as well as elements positively considered by affected persons. f patient journey As with other patient-reported experiences, they can complete the clinical evaluation and f Addison’s disease management of a specific disease, improving the often long diagnostic delay, therapy, f acromegaly patient education and access to knowledgeable multidisciplinary teams. This review f congenital adrenal discusses the utility of such patient-reported experience measures and summarises hyperplasia the experiences of patients with acromegaly, Addison’s disease and congenital adrenal hyperplasia from different European countries. Despite rare endocrine diseases being varied and presenting differently, feelings of not having been taken seriously by health professionals, family and friends was a common patient complaint. Empathy and a positive patient-centred environment tend to improve clinical practice by creating a trustworthy and understanding atmosphere, where individual patient needs are considered. Offering access to adequate patient information on their disease, treatments and outcome helps to adapt to living with a chronic disease and what to expect in the future, contemplating the impact of a disease on patients’ everyday life, not only clinical outcome but also social, financial, educational, family and leisure issues is desirable; this facilitates more realistic expectancies for patients and can even lead to a reduction in health costs. Patient empowerment with patient-centred approaches to these complex or chronic diseases should be contemplated more and more, not only for the benefit of those affected but also Endocrine Connections for the entire health system. (2022) 11, e220385 https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 Introduction everyday life than more technical parameters usually used to measure health outcomes (i.e. mortality, complication Knowledge on patient experience related to the rates) (9, 10). Additionally, next to elements of quality of healthcare systems is currently considered essential healthcare, like safety and clinical effectiveness, elements to pursue optimal quality of care (1). The concepts of like compassion, dignity, respect, unmet needs, gaps, and patient-reported outcome measures and patient-reported issues related to social, working capacity and other issues experience measures (PREMs) are nowadays considered are important for patients, and not always contemplated more and more important in healthcare evaluation; in by health administrators. Contemplating these elements fact, improved PREMs are shown to be associated with with empathy from the healthcare professionals and the enhancement in the quality of healthcare, better providing information as a PJ document, be it a visual financial outcome of health institutions and is even a diagram or a brief text, can reduce suffering and can be predictor of survival (1, 2, 3, 4, 5). Patients especially mutually beneficial (1). Naturally, the exact content, scope associate a better outcome to the level of communication and extension may vary, depending on the different issues with and trust in their doctors and nurses, as well as stated earlier. sufficient information and understanding of outcome For patients with rare diseases, a long diagnostic (4, 7). ‘Patient journeys’ (PJ) are instruments developed delay and visits to many healthcare professionals before a to collect information on patients’ experiences in many correct diagnosis is reached may determine suffering and areas of medicine, including rare diseases (8). They are anxiety for years; therefore, when a diagnosis is finally simple ways to make visible the needs of a community reached, their degree of satisfaction is high, especially of patients that can complete the view of the clinician when additional support and information on their disease on a specific disease if they wish. It is a way to share and and consequences are available (7, 11). Neonatal screening discuss information between patients and clinicians, not may shorten the time to diagnosis for some diseases such only medical or on the natural history of the disease but as congenital adrenal hyperplasia and thereby prevent also emotional, psychological, social and other issues sequelae or neonatal death, in addition to the psychological that determine everyday needs. It enables a discussion to aspects of avoiding diagnostic delay. identify unmet needs and approach problems in order to Concerns about data privacy are often put forward by try to solve them. These problems or gaps may be common some health professionals and legal bodies when asking for a group of patients with a certain diagnosis, as well as patients for their opinions. However, PREMs are opinions others specific to individual syndromes. voluntarily offered by affected patients and a good way PJ were developed by EURORDIS, in collaboration with to gain information on what it is like to be living with a the ERN GENTURIS (the European Reference Network for chronic or rare disease; potentially, they can help the patients with one of the rare genetic tumour risk syndromes; healthcare professionals to improve patient outcome and www.genturis.eu), after a mapping exercise of the needs of experience, beyond the more technical issues, creating different rare inherited syndromes (8). It allows to connect a positive patient-centred, empathic environment. professional expert guidelines (which include defined Furthermore, a recent systematic review of patient privacy medical interventions, screening, treatment, etc.) with perspectives related to health information exchange has patient needs, not only medical but also psychological. evidenced that perceived quality of care was associated One of the main aims of the ERNs since their with few privacy concerns; in other words, positive implementation in 2017 is to tackle the current hurdles patient perceptions on healthcare and exchange of health of complex or rare diseases and to connect collective information reduce privacy concerns and its effects (12). experience and expertise across Europe, facilitating the Other features which are important to relieve anxiety knowledge to travel instead of the patient. Collecting data and suffering are to clarify the confusion and uncertainty on PJ from different countries with distinct and varying of patients and their families. Waiting for a consultation health system organizations, as well as from different can be very stressful, as well as having received conflicting diseases, may contribute to provide PREM information information from different handling clinicians. Making which is currently mostly lacking. relevant information easily available for new patients and For patients, elements like functional status after good healthcare professional–patient communication is a health intervention or treatment (like the presence necessary to improve perception of the situation, as well or absence of pain, extreme fatigability, capacity to as reminding the patient that coping is essential, despite concentrate, etc.) are usually more important for their the presence of the disease and its possible consequences, https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 and that some degree of improvement is nearly always understood the attached ‘Information on Collecting Data possible (11, 13, 14). for Participation in Patient Journey’ (Supplementary Table The lead of Work Package 4 (responsible for Quality 1) and consented to the processing of the reported data of Care and Patient View) within the European Reference as described therein. From the original English version, Network devoted to rare endocrine conditions (EndoERN) translations have been performed by the authors into adapted the original template developed by EURORDIS to Danish, French, German, Italian, Spanish and Swedish these endocrine conditions (Supplementary Table 1, see (Supplementary Table 2). section on supplementary materials given at the end of this article). Patient journey in acromegaly Data of six patients from four countries were obtained Patient journeys within RareEndoERN (Tables 1 and 2). Diagnostic delay oscillated from 3 months With this review, we wish to highlight the utility of PJ to 15 years after the appearance of symptoms. However, most to gain further insight on the impact of a rare endocrine symptoms were only recognised retrospectively, once the disease on an affected patient or their families. While diagnosis had been reached. Typical clinical presentation medical textbooks and guidelines collect relevant aspects and symptoms, both physical and psychological, had related to the diagnosis and management of a specific for some patients been experienced for years but were disease, they do not always include the patients’ point of unrecognised by different healthcare professionals (11). view, which can be reflected in different PJ formats (e.g. a Less recognised features like a very large placenta which visual diagram, a list of problems encountered and how was mentioned but not interpreted as diagnostic, or a to approach them, confront positive and/or negative laryngeal mucosal hypertrophy determining upper airway experiences, or describe unsolved gaps or practical hurdles narrowing, recognised by an experienced ENT surgeon in everyday life). who had diagnosed another patient in the past based on Additionally, we performed a practical exercise of the same finding, after consulting for a dysphonia (15), identifying around half a dozen patients with either deserve highlighting. Another patient-referred feature was acromegaly, Addison’s disease or congenital adrenal ‘a change in smile’, obviously hardly perceivable by anyone hyperplasia and asked them to write down their experiences who is not the patient or in their close circle. in a table template, initially created by EURORDIS, and Patients expressed frustration in not having been reviewed and adapted by the authors for endocrine listened to when complaining that ‘something was wrong’, patients. and were not taken seriously, or had to insist repeatedly to be Patients from the countries of the WP4 leads were referred to a reference centre, fighting many administrative initially approached by identifying a representative battles. A desire to understand what was going on, with a patient for three diseases related to the main thematic plausible explanation and to feel at peace was verbalised; group 1 (MTG1: adrenal) and MT6 (pituitary) of access to quality information and care was highlighted, as EndoERN, affecting mainly children (congenital adrenal well as an empathetic attitude, ideally by multidisciplinary hyperplasia) or adults (Addison’s disease and acromegaly). teams who could offer global care, contemplating the After explaining the aim, they volunteered to collaborate disease itself and all accompanying morbidity. Access to and were sent the template table to fill and return to one experienced neurosurgeons, without a long waiting list, of the four WP4 leads. They were encouraged to discuss was stated as important. However, this was only possible their opinions with other patients or associations they in private practice in some cases and not accessible to all. are related to, with the idea of getting a realistic and full Clarifications of ‘scary’ words like having a tumour in your picture of what they have experienced. Before completing head or requiring radiotherapy (associated to cancer) were any data, patients confirmed they had read and stated as essential for the patients. Table 1 Available translations and countries in which the patient journey template for different diseases was completed. Denmark France Germany Italy Lithuania Spain Sweden Diseases Acromegaly x x x (in English) x Addison’s disease x x x x Congenital adrenal x x x hyperplasia https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 Table 2 Summary of patient journey data in acromegaly Ideal outcome/support (how to Stage of journey Clinical presentation/symptoms Patient/family needs address the needs) Pre-diagnosis: Typical physical: headache, Two different scenarios: Listening to the patient by all Diagnostic delay of carpal tunnel sd, sweating, - No suspicion of disease, problems involved in their healthcare 0.25–15 years before menstrual irregularity, feeling thought to be related to stress, (primary care, specialists correct diagnosis tired with less strength, growth ageing, weight gain or lifestyle consulted, nurses) who First symptom or at of hands, feet & tongue changes complain they are not taken diagnosis (determining lisping), joint - Years of repeated consultations with seriously despite knowing pains, facial changes perceived no recognition of the symptoms as ‘something is wrong’. suddenly by third parties, apart of the disease, determining Increase awareness of the appearance of more body hair, stress and impaired QoL disease at all health levels to snoring or sleep apnea, weight Desire to understand what is going on reach an earlier diagnosis and gain, skin thickening, jaw and feel at peace prevent irreversible changes growth with toothache, high Fear of reaction of relatives when Empathy by primary care and blood pressure Feeling disclosing the diagnosis prevent delays in referring ‘something is wrong’ High-quality information, care & patients or organising Psychological: insomnia, lack of empathy by specialised diagnostic tests concentration, less memory, multidisciplinary reference centres to Access to multidisciplinary unreasonable nervousness, offer global care. expert teams not only for depression, fits of rage, Accessibility to experienced diagnosis but also for chronic irritability neurosurgeon for all (not only to follow-up Less frequently described: expensive private specialists) Shorten waiting list for surgery, ‘unexplained’ very large Honesty by HCP if not familiar with which is lived as very stressful. placenta. Laryngeal ventricular the disease, to refer to reference Empowering patient hernia, change in smile centre associations, since sharing Information on radiotherapy, experiences can be very associated to ‘cancer’ and scary therapeutic, leading to better Earlier recognition by sleep centres, information, acceptation and neurologists, ENT specialists, peace dentists, gynaecologists, orthopaedic Access to psychiatrist or surgeons, jewellers, shoe retailers, psychologist who understands etc. the psychological aspects of Understanding that it is a chronic the disease life-changing disease and learn to Utility of questionnaires on QoL live with it, in a positive way or different aspects of the disease which help the patient realise that they are validated and not crazy Most referred symptoms and quality of life The positive role of patient support associations to improvements after surgery or medical therapy, but some share experiences and listen to other patients who had problems persisted and impaired their quality of life. Long lived similar situations was considered very therapeutic delays to receive treatment were mentioned as generators by many, leading to relevant information, acceptation, of great stress and anxiety, while a sensation of great relief coping and a sensation of peace. Given the psychological was experienced after surgery. implications of acromegaly, many valued the possibility As far as patient or family needs, two different scenarios of access to a psychiatrist or psychologist to complete their were reported. While for some there was no suspicion of global management. Becoming aware by questionnaires any abnormality and perceived problems were considered that many complaints were related to the disease was also to be related to stress, ageing, weight gain or unhealthy stated as helpful since they felt validated that what they lifestyles, for the majority, stress and impaired quality had experienced was real and not their imagination or of life were perceived after years of multiple and varied becoming a hypochondriac. consultations due to different health problems, without Finally, understanding that acromegaly is a chronic recognition of the disease. These included sleep specialists, disease, with long-term consequences and requiring in neurologists, ENT surgeons, dentists, gynaecologists or some cases monthly injections and frequent contact with orthopaedic surgeons, and also jewellers or shoe retailers the healthcare system, is essential. Positively adapting to whom it is worth to be made aware of the extreme rarity the life changes required is important and will help come to of significant increase in hand or foot size, if not due to terms with the situation, while maintaining a satisfactory acromegaly. daily quality of life. https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 Patient journey in Addison’s disease line and lips, menstrual irregularity in women, often leading to anxiety and claustrophobia. Additionally, Data of six patients from four countries were obtained some patients referred to salty food craving and (Tables 1 and 3). Patients referred having suffered worsening of all symptoms after minor health problem from symptoms related to the disease from 6 months like a cold, an infection or a surgical procedure. Once to 10 years before diagnosis, mostly from 2 to 4 years. recognised, however, all stated progressive physical and These symptoms were those classically described for psychological recovery as soon as glucocorticoid and adrenal insufficiency but not recognised as such by the mineralocorticoid substitution therapy was initiated. healthcare professionals consulted, namely nausea, Individualisation of the total daily dose and distribution vomiting, fainting, extreme tiredness, loss of weight, throughout the day was not always immediate, anorexia, hypotension, shortness of breath on minor highlighting the need to discuss each patient’s usual exertions like climbing stairs, pigmentation of skin, hand wake/sleep cycle and food and activity timetables to Table 3 Summary of patient journey data in Addison’s disease Patient/family needs Ideal outcome/support (how to Stage of journey Timeline Clinical presentation/symptoms (collective view) address the needs) Pre-diagnosis very 2 years Nausea & vomiting, fainting, No understanding by Finding medical staff who listen symptomatic. 10 years extreme tiredness, loss of family would to the patient and are After diagnoses and 6 months weight, anorexia, shortness of appreciate more knowledgeable on the disease. start of treatment, 3–4 years breath on minor exertions like listening to the Relief after clear diagnosis and great improvement 1–2 years climbing stairs, skin patients problems required therapy although finding the pigmentation, brown hand and concerns Education and access to exact dose required lines, ‘blue’ lips, anxiety and Disease not knowledgeable specialists and its daily claustrophobia, hypotension, recognised by Information and explanations distribution may take menstrual disappearance primary care for family who have difficulties some time Salty food craving, Desire to recover lost in grasping what the disease Exacerbation after minor energy and improve entails, how to live with it and health problem like a cold, any the shortness of what to expect infection or surgical breath Awareness of the need to adapt procedure It was good to get a the daily treatment to personal Progressive physical and diagnosis and not timetable and activity, psychological recovery after feel like a understanding the underlying diagnosis and starting hypochondriac who physiology glucocorticoid and was always in pain Awareness and information of mineralocorticoid substitution and tired other endocrine deficiencies therapy. May take some time Necessity of which may accompany to find the correct daily dose explanations on what Addison’s disease: and distribution it means to live with a hypothyroidism, vitamin B12 chronic, life-long deficiency, premature disease menopause. Education on physical Have a stable follow-up team, and psychological with the same doctor or nurse, situations that and not constant changes that require extra create anxiety during stress-dose increase follow-up in glucocorticoid Training on crises management requiring dose increase and injections in case of infection, exertion or any emergency situation Better physician training on emergency care and crises management with immediate administration of parenteral glucocorticoids Access to constant medical support if required - Facilitate access to hydrocortisone at all levels (not only in the hospital pharmacy, as occurs in Italy) https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 optimise therapy and well-being. Being aware of sick that at birth genitalia were normal and treatment with day rules, when doses should be immediately increased, glucocorticoids was initiated. The first daughter, however, as well as education on parenteral administration of required surgery for external genitalia correction at the glucocorticoids if the oral route is not possible, was also age of 4 months. considered essential (16). Another case was also diagnosed at birth while in As far as patient and family needs, they were in part another two it took 2–3 weeks for the correct diagnosis to common to those expressed by patients with acromegaly. be made. This created great anxiety in the parents, who Despite both being rare endocrine diseases, they have complained often of not being taken seriously or having little in common as far as symptoms are concerned, but the personal and administrative problem of not being sure both stress the importance of access to reliable education of the gender assignment of the newborn. All insisted on for the patients and family on the nature of the disease, the need for speedy confirmation of diagnosis at birth what it entails as a chronic life-long procedure, as well as or immediately after. One of the mothers complained the initial relief of knowing that finally their complaints of having been left alone in the delivery room without were explained and validated, after a long time of not any explanation which created great anxiety, while the being understood by their family or those healthcare newborn and father were taken to the neonatal ICU professionals consulted. For the patient, recovering their facilities. energy and feeling less pain once glucocorticoids were A boy identified via neonatal screening was reported given was a tremendous relief. by the parents. Symptoms of irritability and insufficient Additionally, being aware that Addison’s disease may weight gain did not give the diagnosis before the screening often be part of an autoimmune polyendocrinopathy result at 8 days. He was admitted to the hospital and with additional hypothyroidism, premature menopause started on treatment the same day. The parents describe and/or vitamin B12 deficiency requiring monthly difficulties taking in the information and understanding injections was also considered important to accept the the disease and its consequences and would have needed situation and find alternatives. more support in how to give the medication and the salt Despite the medical textbook knowledge of the need for to their baby. immediate parenteral glucocorticoid administration when A further male patient who did not have salt-wasting patients require an emergency consultation, this is often was diagnosed at the age of 2½ years, due to androgen not the case; unjustified delays are a common complaint excess, determining excessive growth, advanced bone in many patients and relatives, despite informing of age and pubic hair. The risks of both under- and over- this immediate need, especially when non-endocrine replacement with gluco- and mineralocorticoids were specialists are involved. This is clearly a gap which deserves mentioned, which could be minimized if all patients were improvement at all levels. cared for by reference multidisciplinary groups, where a A stable follow-up with the same personnel was stated clear treatment plan and care pathway was established and as highly reassuring and desirable, if possible. agreed upon by the healthcare providers and the families. Finally, in Italy, there was the extra complication of Again, the desirability and positive influence of patient only having access to parenteral hydrocortisone at hospital or family support groups was highlighted, as well as their pharmacies, and patients plead to make it easier and more inclusion in national disease registries, to make them accessible. easier to identify. Similarly to the patients with Addison’s disease, clear instructions as what to do when otherwise sick Patient journey in congenital adrenal hyperplasia were considered essential, not only for the families but Data of seven patients from three countries were obtained also for all health professionals involved (primary care, (Tables 1 and 4); in one of the Italian reports, two affected nurses, surgeons or any other healthcare providers, girls from the same family were reported. While the first especially in the emergency room) (16). And easy access daughter was born with ambiguous genitalia and salt to parenteral hydrocortisone in all pharmacies (not only wasting and immediately admitted to the neonatal ICU in the hospital) was a desire expressed in Italy. An on-call unit where she was treated and promptly diagnosed, phone number in case of emergency, as well as to be able the second daughter was diagnosed after a chorionic to ask questions and for less experienced physicians to get villous biopsy at 11 weeks of pregnancy. Her mother was guidance on how to treat, was the kind of support that treated with glucocorticoids throughout pregnancy so was requested. https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 Table 4 Data from patient journey in congenital adrenal hyperplasia Stage of Ideal outcome/support (how to journey Timeline Clinical presentation/symptoms Patient/family needs (collective view) address the needs) Diagnosis * 11 weeks of Extreme weakness, polyuria, More attentive clinical staff/ -Access to empathetic and pregnancy vomiting, dehydration, acute paediatrician to immediately knowledgeable HCP who 2 at birth salt loss, ambiguous genitalia recognise CAH, especially in immediately recognise the 14 days postnatal (girls) salt-wasting cases. Being taken diagnosis and begin 20 days postnatal *2nd daughter of affected seriously, not as anxious patients therapy with **2.5 years of family; mother treated Possibility of preventing hydrocortisone. age throughout pregnancy and ambiguous genitalia in a -Rapid genetic diagnosis, girl was born with normal subsequent pregnancy by in utero especially if ambiguous genitalia genetic diagnosis and treatment genitalia, to register the **Non-salt wasting CAH of mother child with a correct gender diagnosed due to excessive Speedy confirmation of diagnosis (required in 10 days in growth, pubic hair, advanced at or immediately after birth countries like Italy) bone age Awareness of all hospital staff of - Sufficient information and the need of hydrocortisone support to patients to therapy at specific times understand the disease throughout the day. and handle daily treatment Information on the physiology of and changes required if normal cortisol secretion to child is otherwise sick (sick understand the importance of day rules for medication). adequate hydrocortisone dose - Access to support groups with adequate circadian and contact details of distribution (not too late at night expert reference centres to which favours night-time waking). optimise treatment Risks of both under- and over- - Adequate support and replacement treatment information in the delivery Information of the disease, what it room for mother, father entails as a chronic, life-long and child who may be disease, which requires daily rapidly transferred for treatment, with a clear treatment further testing or plan and care pathway, both for admission to ICU parents and affected child - Facilitate access to Access to a knowledgeable hydrocortisone at all levels specialist, rather than being (not only in the hospital handled in a trial-and-error pharmacy, as occurs in fashion Italy) Patient/family support groups Screening Irritable, difficult to comfort, Important to receive clear and Repeated information and diagnosis 8 days but no electrolyte repeated information from doctor easy access to care. Good of age disturbance. Insufficient and the team. Difficult to take in with a phone number to Boy with SW form weight gain not identified all information and learn how to call in case of emergency before the screening result deal with the situation, both that can give support also practically and psychologically. to other physicians in Support by nurses in how to give hospitals elsewhere. Same medication and especially the salt. nurses and doctor over time, as far as possible, is important for feeling of security. Support in how to give the medication and especially the salt to a baby. Psychological support. Conclusions are mentioned. Despite rare endocrine diseases being very varied and presenting differently (from mild to This exercise of highlighting the utility of and collecting severe), the feelings of not having been taken seriously patient-reported experiences as PJ in three different both by healthcare professionals and the patients’ close rare endocrine conditions has identified gaps where circles of family and friends were rather common. When improvement in diagnosis, therapy, patient education relevant, identification through screening shortens the and access to knowledgeable multidisciplinary teams journey to diagnosis and prevents some of the initial https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 severe symptoms and possible sequelae (17). However, Funding the importance of information and the needs in the This publication has been supported by Endo-ERN, which is co-funded context of long-term follow-up are also identified as very by the European Union’s 3rd Health Programme (CHAFEA Framework important. No information on patients’ experiences Partnership Agreement No 739527). regarding transition from childhood to adult care (a vulnerable period when being aware of patients’ Author contribution statement experiences and needs are of great importance) were All authors contributed and agreed to the final PJ template. SMW wrote included. the initial version of the manuscript which was edited and approved by all authors. A further value of the PJ tool is that it can lead to create discussion and partnership between patients and clinicians for these rare diseases. Any derived findings of Acknowledgements issues reported may then be used in EndoERN to propose The authors wish to thank all patients who contributed to the information new activities (i.e. in guideline development) or in new collected in this manuscript. strategies, development of patient information and communication material. Empathy and a positive patient-centred environment References deserve pursuing since they can improve clinical 1 Lee TH. The word that shall not be spoken. New England Journal of Medicine 2013 369 1777–1779. (https://doi.org/10.1056/NEJMp1309660) practice, by creating a trustworthy and understanding 2 Martínez-Momblán MA, Gómez C, Santos A, Porta N, Esteve J, environment; listening to the individual patients’ needs Úbeda I, Halperin I, Campillo I, Guillaumet I, Webb SM et al. A specific is essential to attain positive patient experiences. This nursing educational program in patients with cushing’s syndrome. Endocrine 2015. (https://doi.org/10.1007/s12020-015-0737-0) can be achieved by offering access to adequate patient 3 Gupta D, Lis CG & Rodeghier M. Can patient experience with service information on the disease, treatments and outcome quality predict survival in colorectal cancer? Journal for Journal of so that the patient knows what to expect in the future Healthcare Quality 2013 35 37–43. (https://doi.org/10.1111/j.1945- 1474.2012.00217.x) and adapt to living with a chronic disease. Further 4 Morel T & Cano SJ. Measuring what matters to rare disease patients – research devoted to analyse the impact of a disease on reflections on the work by the IRDiRC taskforce on patient-centered patients’ everyday life, contemplating social, financial, outcome measures. Orphanet Journal of Rare Diseases 2017 12 171. (https://doi.org/10.1186/s13023-017-0718-x) educational, family and leisure issues, is desirable. 5 Hoffman AR, Mathison T, Andrews D, Murray K, Kelepouris N & In this way, those affected can contemplate realistic Fleseriu M. Adult growth hormone deficiency: diagnostic and treatment expectancies and correlate these issues with a reduction journeys from the patients' perspective. Journal of the Endocrine Society 2022 6 bvac077. (https://doi.org/10.1210/jendso/bvac077) in health costs, related to both physical complaints and 6 Buhlman NW & Lee TH. When patient experience and employee psychological ones like stress, depression and anxiety engagement both improve, hospitals’ ratings and profits climb. (18). Patient empowerment with patient-centred Harvard Business Review. Boston, MA, USA: Harvard Business Publishing, 2019. (available at https://hbr.org/2019/05/when-patient- approaches to these complex or chronic diseases should experience-and-employee-engagement-both-improve-hospitals- be contemplated more and more, not only for the ratings-and-profits-climb) benefit of those affected, but also for the entire health 7 Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A & Nordenström A. EndoERN patient survey on their system, as evidenced in a recent systematic review (19). perception of health care experience and of unmet needs for Although the existing evidence was small to moderate, rare endocrine diseases. Endocrine 2021 71 569–577. (https://doi. patient-mediated interventions, like patient-reported org/10.1007/s12020-021-02625-0) 8 Bolz-Johnson M, Meek J & Hoogerbrugge N. “Patient Journeys”: health information and patient education, were improving care by patient involvement. European Journal of Human shown to improve professional practice by increasing Genetics 2020 28 141–143. (https://doi.org/10.1038/s41431-019-0555-6) healthcare professionals' adherence to recommended 9 Aho-Glele U, Pomey MP, Gomes de Sousa MR & Bouabida K. An evidence-based tool (PE for PS) for healthcare managers clinical practice. to assess patient engagement for patient safety in healthcare organizations. Patient Experience Journal 2021 8 45–58. (https://doi. org/10.35680/2372-0247.1454) Supplementary materials 10 Pomey MP, Ghadiri DP, Karazivan P, Fernandez N & Clavell N. Patients This is linked to the online version of the paper at https://doi.org/10.1530/ as partners: a qualitative study of patients’ engagement in their health EC-22-0385. care. PLOS ONE 2015 10 e0122499. (https://doi.org/10.1371/journal. pone.0122499) 11 Sibeoni J, Manolios E, Verneuil L, Chanson P & Revah-Levy A. Patients’ Declaration of interest perspectives on acromegaly diagnostic delay: a qualitative study. The authors declare that there is no conflict of interest that could be European Journal of Endocrinology 2019 180 339–352. (https://doi. perceived as prejudicing the impartiality of this review. org/10.1530/EJE-18-0925) https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License. S M Webb et al. 11:12 e220385 12 Shena N, Berniera T, Sequeiraa L, Straussa J, Silvera MP, Carter- 16 Yeoh P, Czuber-Dochan W, Aylwin S & Sturt J. Lived experience Langforda A & Wiljera D. Understanding the patient privacy of people with adrenocortical carcinoma and associated adrenal perspective on health information exchange: a systematic review. insufficiency. Endocrinology, Diabetes and Metabolism 2022 5 e341. International Journal of Medical Informatics 2019 125 1–12. (https://doi. (https://doi.org/10.1002/edm2.341) org/10.1016/j.ijmedinf.2019.01.014) 17 Elyoussfi S. Understanding Patient Engagement: Exploring Factors 13 Street Jr RL, Gordon H & Haidet P. Physicians communication and around Utilisation of Screening and Surveillance Services in Individuals perceptions of patients: is it how they look, how they talk, or is it just with or At Risk of Rare Endocrine Syndromes. PhD Thesis, Brunel the doctor? Social Science and Medicine 2007 65 586–598. (https://doi. University. (available at: https://bura.brunel.ac.uk/handle/2438/23505) org/10.1016/j.socscimed.2007.03.036) 18 Ebbehoj A, Søndergaard E, Jepsen P, Stochholm K, Svane HML, 14 Santos A & Webb SM. Coping with Cushing’s Disease: the Patients’ Madsen M, Poulsen PL & Jørgensen JOL. The socioeconomic Perspectives. Cushing’s Disease. An Often Misdiagnosed and Not So consequences of Cushing’s syndrome: a nationwide cohort study. Rare Disorder, pp. 169–185, ch. 10. Ed. ER Laws. Amsterdam, Journal of Clinical Endocrinology and Metabolism 2022 107 1–9. (https:// Netherlands: Elsevier, 2017. (https://doi.org/10.1016/B978-0-12- doi.org/10.1210/clinem/dgac174) 804340-0.00010-3) 19 Fønhus MS, Dalsbø TK, Johansen M, Frethei A, Skirbekk H & 15 Smaily H & Matar N. Laryngeal manifestations in acromegaly: a Flottorp SA. Patient-mediated interventions to improve professional systematic review of the literature. Acta Oto-Laryngologica Case Reports practice. Cochrane Database of Systematic Reviews 2018 9 CD012472. 2020 5 57–63. (https://doi.org/10.1080/23772484.2020.1809421) (https://doi.org/10.1002/14651858.CD012472.pub2) Received in final form 8 September 2022 Accepted 13 October 2022 Accepted Manuscript published online 13 October 2022 https://ec.bioscientifica.com © 2022 The authors This work is licensed under a Creative Commons https://doi.org/10.1530/EC-22-0385 Published by Bioscientifica Ltd Attribution-NonCommercial 4.0 International License.