Perceptions and experiences of rare diseases among the GP population in Northern Ireland

BackgroundRare diseases are often complex, life-long conditions with a genetic basis. With advances in phenotyping and genomic medicine, there are now >8000 rare diseases reported. A rare disease is defined by an incidence of <5 cases per 10 000 population; although they are individually rare, collectively they are much more common with 1 in 17 persons affected in their lifetime. The Northern Ireland Rare Disease Implementation Plan (2015) highlighted the need for better coordination of care, the empowerment of patients, better diagnostics, and earlier disease interventions. The report also acknowledged the difficult role that GPs have, especially in the diagnosis of rare diseases. GPs play an important role in healthcare delivery for people living with a rare disease and their families. However, many GPs report challenge identifying and managing individuals with a rare disease appropriately.AimTo explore GP’s perceptions and experiences of rare diseases.MethodA literature review of published research related to GPs and rare disease will be conducted. Databases searched include Medline, Embase, Web of Science, Scopus and Google Scholar. Additionally, an online survey will be completed by GPs November 2018–spring 2019, with follow-up qualitative interviews providing further in-depth information.ResultsInitial searches have revealed 27 relevant publications. A summary of the findings from the literature review will be presented, alongside findings from our GP survey.ConclusionMuch can be learned from the experiences of current GPs to identify rare disease information needs and resources that enable effective GP-patient partnerships.

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Perceptions and experiences of rare diseases among General Practitioners: an exploratory study

10.1101/2021.09.07.21263025 ◽

2021 ◽

Author(s):

Julie McMullan ◽

Ashleen L. Crowe ◽

Taylor McClenaghan ◽

Helen McAneney ◽

Amy Jayne McKnight

Keyword(s):

Rare Disease ◽

General Practitioners ◽

Support Groups ◽

Rare Diseases ◽

Exploratory Study ◽

Online Survey ◽

Treatment Options ◽

Healthcare Delivery ◽

Disease Awareness ◽

Specialist Services

AbstractBackgroundGeneral Practitioners (GPs) play an important role in healthcare delivery for people living with a rare disease and their families. Managing long-term multisystem diseases that often have no cure and sub-optimal treatment options can be extremely challenging.AimTo gain an understanding of GP’s perception and experience of rare diseases.Design and SettingThis is an exploratory study with GPs from Northern Ireland.MethodAn online survey was hosted within SmartSurvey, available for 6 weeks in early 2019, which queried: GPs career to date, interactions with rare disease patients, challenges faced, the exchange of information with patients, priorities for the future, support for such patients and finally training.ResultsSixty-six GPs engaged with the survey with 15 completing the survey. Many frustrations were mentioned by GPs when caring for such patients including finding a diagnosis, lack of specialist services and lack of awareness. Seventy-nine percent of GPs responding did not feel adequately trained to care for patients with a rare disease, while 93% were interested in undertaking training to enable them to improve their care for rare disease patients.ConclusionMore effective and convenient ‘rare disease’ focused training programs would help GPs manage patients with rare diseases. Enabling efficient, effective communication between GPs and individual medical specialists is of paramount importance to give GPs access to information on how to effectively manage patients living with a rare disease. Awareness should be raised for effective support mechanisms such as charities and support groups for rare disease patients.How this fits inMany GPs have reported feeling overwhelmed when caring for rare disease patients. Their lack of knowledge forces them to turn to the internet but finding reliable information is often difficult. This study acknowledges the difficult task GPs face when caring for this population and highlights the need for training development, improved communication, and better awareness.

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Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01559-6 ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Julie McMullan ◽

Ashleen L. Crowe ◽

Caitlin Bailie ◽

Kerry Moore ◽

Lauren S. McMullan ◽

...

Keyword(s):

Northern Ireland ◽

Rare Disease ◽

Rare Diseases ◽

Health Professionals ◽

Online Survey ◽

Essential Element ◽

Future Research ◽

Structured Interviews ◽

Collaborative Groups ◽

Related Information

Abstract Background Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018–2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI). Methods This study had 2 stages. Stage 1 was an online survey and stage 2 involved semi-structured interviews both with rare disease collaborative groups in Northern Ireland. The surveys and interviews were used to locate existing resources as well as identify gaps where the development of further resources would be appropriate. Results Ninety-nine rare disease collaborative groups engaged with the survey with 31 providing detailed answers. Resources such as information, communication, ‘registries’, online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective information and communication, training for health professionals, online presence, support for carers, and involvement in research. Conclusions All rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs, and suggests approaches to improve rare disease support.

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Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

10.1101/2020.05.22.20110056 ◽

2020 ◽

Author(s):

Julie McMullan ◽

Ashleen L. Crowe ◽

Caitlin Bailie ◽

Kerry Moore ◽

Lauren S. McMullan ◽

...

Keyword(s):

Northern Ireland ◽

Rare Disease ◽

Rare Diseases ◽

Health Professionals ◽

Online Survey ◽

Essential Element ◽

Future Research ◽

Structured Interviews ◽

Collaborative Groups ◽

Information And Communication

AbstractBackgroundMany people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018-2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI).ResultsNinety-nine participants engaged with the survey with 31 respondents providing detailed answers. Resources such as information, communication, ‘registries’, online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective: information and communication, training for health professionals, online presence, support for carers, and involvement in research.ConclusionsAll rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. Due to the unique role a carer has in the life of a person with a rare disease it is vital that their voice is heard and their needs are listened to. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs in service provision, and suggests approaches to improve rare disease support prioritising improved information and communication provision, improved access to services, and tailored support for carers of people with a rare disease.

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Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

Neuropediatrics ◽

10.1055/s-0039-1694976 ◽

2019 ◽

Vol 51 (01) ◽

pp. 049-052

Author(s):

Benedikt Hofmeister ◽

Celina von Stülpnagel ◽

Steffen Berweck ◽

Angela Abicht ◽

Gerhard Kluger ◽

...

Keyword(s):

Valproic Acid ◽

Literature Review ◽

Rare Disease ◽

Clinical Features ◽

Rare Diseases ◽

Rare Complication ◽

Genetic Diseases ◽

Related Effect ◽

Higher Sensitivity ◽

Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

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Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol

NIHR Open Research ◽

10.3310/nihropenres.13236.1 ◽

2021 ◽

Vol 1 ◽

pp. 23

Author(s):

Celine Lewis ◽

James Buchannan ◽

Angus Clarke ◽

Emma Clement ◽

Bettina Friedrich ◽

...

Keyword(s):

Mixed Methods ◽

Rare Diseases ◽

Qualitative Interviews ◽

Genomic Medicine ◽

Research Programme ◽

Early Years ◽

Genomic Testing ◽

Medicine Service ◽

Recommendations For Practice

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases. Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies. Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

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Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study (Preprint)

10.2196/preprints.7425 ◽

2017 ◽

Author(s):

Svenja Litzkendorf ◽

Tobias Hartz ◽

Jens Göbel ◽

Holger Storf ◽

Frédéric Pauer ◽

...

Keyword(s):

Health Care ◽

Rare Diseases ◽

Health Care Professionals ◽

Information Needs ◽

Qualitative Interviews ◽

Quality Criteria ◽

Quality Information ◽

High Quality ◽

Information Portal ◽

High Quality Information

BACKGROUND Recently, public and political interest has focused on people living with rare diseases and their health concerns. Due to the large number of different types of rare diseases and the sizable number of patients, taking action to improve the life of those affected is gaining importance. In 2013, the federal government of Germany adopted a national action plan for rare diseases, including the call to establish a central information portal on rare diseases (Zentrales Informationsportal über seltene Erkrankungen, ZIPSE). OBJECTIVE The objective of this study, therefore, was to conduct scientific research on how such a portal must be designed to meet the needs of patients, their families, and medical professionals, and to provide high-quality information for information seekers. METHODS We chose a 3-step procedure to develop a needs-based prototype of a central information portal. In the first step, we determined the information needs of patients with rare diseases, their relatives, and health care professionals by means of qualitative interviews and their content-analytical evaluation. On the basis of this, we developed the basic structure of the portal. In the second step, we identified quality criteria for websites on rare diseases to ensure that the information linked with ZIPSE meets the quality demands. Therefore, we gathered existing criteria catalogs and discussed them in an expert workshop. In the third step, we implemented and tested the developed prototypical information portal. RESULTS A portal page was configured and made accessible on the Web. The structure of ZIPSE was based on the findings from 108 qualitative interviews with patients, their relatives, and health care professionals, through which numerous information needs were identified. We placed particularly important areas of information, such as symptoms, therapy, research, and advisory services, on the start page. Moreover, we defined 13 quality criteria, referring to factors such as author information, creation date, and privacy, enabling links with high-quality information. Moreover, 19 users tested all the developed routines based on usability and comprehensibility. Subsequently, we improved the visual presentation of search results and other important search functions. CONCLUSIONS The implemented information portal, ZIPSE, provides high-quality information on rare diseases from a central point of access. By integrating the targeted groups as well as different experts on medical information during the construction, the website can assure an improved search for information for users. ZIPSE can also serve as a model for other Web-based information systems in the field of rare diseases. REGISTERED REPORT IDENTIFIER RR1-10.2196/7425

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Facebook support groups for pediatric rare diseases: opportunities, limitations and privacy concerns (Preprint)

10.2196/preprints.31411 ◽

2021 ◽

Author(s):

Sarah Catrin Titgemeyer ◽

Christian Patrick Schaaf

Keyword(s):

Rare Disease ◽

Support Groups ◽

Support Group ◽

Rare Diseases ◽

Health Professionals ◽

Online Survey ◽

Privacy Rights ◽

Cross Sectional ◽

Privacy Concerns ◽

Group Members

BACKGROUND Due to the nature of rare diseases with affected individuals being widely geographically dispersed, finding an in-person/offline support group itself can be a challenge. Affected individuals therefore turn to social networking platforms such as Facebook for online support groups. OBJECTIVE We aim to put into perspective the opportunities Facebook offers as a tool for pediatric rare disease support groups by investigating its use, advantages and limitations including privacy concerns. We analyze group accessibility and usage, advantages specific to rare diseases, perceived privacy and views on using Facebook for communication between health professionals and parents, pharmaceutical companies and for study recruitment. METHODS We contacted twelve Facebook support groups for twelve respective rare diseases with pediatric onset and invited group members to participate in a cross-sectional online survey. RESULTS Of 231 respondents, 87.0% (n=201) respondents were female, 12.6% (n=29) were male and 1 respondent reported another sex (0.4%, n=1). Respondents’ mean age was 41.56 years (SEM=0.621, SD=9.375). 91.3% (n=211) respondents were parents (183 mothers, 27 fathers, 1 other sex). 59.7% (n=138) reported a self-initiated search for the Facebook group, 24.2% (n=56) received recommendations from their health professionals, 12.6% (n=29) recommendations from someone else affected by the disease. On average, support group members visited Facebook at least once a day, visited and passively participated (read/liked posts) several times a week and participated actively (commented/posted) once a month. 79,6% agreed that they would like to have health professionals as members of the respective Facebook group. Group members expressed more concern about privacy issues on Facebook in general than in their respective Facebook support groups, with concerns mostly related to Facebook itself and non-group-members. CONCLUSIONS Our study confirmed that Facebook enhances support group accessibility for parents of children with rare diseases. Group participants perceive a reduction and elimination of distance, a common challenge in rare disease, and Facebook support groups create an environment of perceived privacy. The group’s privacy setting can be a critical factor for active support group participation. Sharing personal information and pictures on Facebook is very common among group participants, which shows the importance of discussing and protecting children’s privacy rights in this context. CLINICALTRIAL DRKS00016067

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Healthcare delivery and information provision in bariatric surgery in Germany: qualitative interviews with bariatric surgeons

BMC Health Services Research ◽

10.1186/s12913-021-06629-4 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Jessica Breuing ◽

Nadja Könsgen ◽

Katharina Doni ◽

Annika Lena Neuhaus ◽

Dawid Pieper

Keyword(s):

Bariatric Surgery ◽

Health Information ◽

Information Needs ◽

Healthcare Professionals ◽

Qualitative Content Analysis ◽

Qualitative Interviews ◽

Healthcare Delivery ◽

Information Provision ◽

Telephone Interviews ◽

The Impact

Abstract Background There are several healthcare professionals involved in health information provision regarding bariatric surgery, such as bariatric surgeons, nutritionists, and medical doctors in outpatient settings. Trustworthy health information supports patients in understanding their diagnosis, treatment decisions, and possible prognosis. Therefore, it is necessary to provide health information on bariatric surgery. This study has two distinct objectives. The first is to outline the delivery of healthcare regarding bariatric surgery in Germany. The second is to describe the information provision within healthcare delivery. Methods We conducted 15 semi-structured telephone interviews with bariatric surgeons between April 2018 and February 2019. The interviews were audio recorded and transcribed verbatim. The interview guide consisted of four sections (information about the clinic/surgeon and surgical procedures, preoperative procedure, postoperative procedure, information needs). The transcribed interviews were analyzed using qualitative content analysis supported by MAXQDA software. Results The pre- and postoperative processes differed substantially between clinics. Additionally, every bariatric clinic had its own information provision concept. There were several cost-related issues the surgeons claimed to be relevant for patients, such as nutritional blood tests or postoperative psychotherapy. These issues were often caused by unclearness of responsibility within the medical disciplines involved. Conclusion Healthcare delivery in bariatric surgery in Germany is heterogeneous in terms of pre- and postoperative care. Therefore, preoperative information provision between the clinics differs. The impact of this heterogeneous healthcare delivery and information provision on patients’ information needs regarding bariatric surgery should be further investigated among patients and other healthcare professionals involved.

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434 - Treatment Patterns and Needs for Dementia-related Psychosis Described by Patients and Care Partners (Caregivers): an Observational, Prospective Study to Describe the Patient Experience

International Psychogeriatrics ◽

10.1017/s1041610220002872 ◽

2020 ◽

Vol 32 (S1) ◽

pp. 151-151

Author(s):

Teresa Brandt ◽

Theresa Frangiosa ◽

Virginia Biggar ◽

Angela Taylor ◽

Bill Keller ◽

...

Keyword(s):

Standard Deviation ◽

Prospective Study ◽

Online Survey ◽

Atypical Antipsychotics ◽

Qualitative Interviews ◽

Unmet Need ◽

Current Treatment ◽

Treatment Patterns ◽

Symptom Improvement ◽

Vas Score

AbstractBackground:We aimed to describe current treatment patterns and unmet needs of persons with DRP from a patient and care partner (CP) perspective.Methods:This observational, non-interventional, prospective study used a mixed-methods approach with qualitative interviews and a quantitative online survey. Persons with DRP and CP of persons with DRP reported the effectiveness of current treatments using a visual analog scale (VAS) of 0 (“not at all well”) to 5 (“extremely well”) and ranked benefits of an ideal treatment. CP burden was outside the scope of this study.Results:The qualitative interview was completed by 1 patient and 15 CP. Current treatments included atypical antipsychotics, antidepressants, anxiolytics, and benzodiazepines. Participants commonly indicated a need to improve patients’ ability to know what is real vs not real.The online survey was completed by 26 patients and 186 CP on behalf of patients under their care. Common treatments used included atypical antipsychotics (27% of patients, 41% of CP) and psychological/ behavioral therapy (23% of patients, 8% of CP). Many participants reported no current treatment (42% of patients, 42% of CP). Participants reported that current treatment methods were less than moderately helpful in treating patients’ most impactful symptoms with a median VAS score of 2.0/5 reported by patients and CP (mean VAS score [standard deviation] = 2.33 [1.0] for patients [n=15], mean [standard deviation] VAS score = 2.4 [1.3] for CP [n=104]). Discontinuation of a treatment was reported by 11 patients and 115 CP, most commonly due to a side effect (27% of patients, 31% of CP), doctor’s recommendation (27% of patients, 14% of CP), or lack of symptom improvement (9% of patients, 28% of CP). Participants ranked the ability to distinguish what is real vs not real (35% of patients, 49% of CP) and overall symptom improvement (42% of patients, 23% of CP) as the most important benefits of an ideal treatment.Conclusions:Patients and CPs reported either not taking any DRP treatments or that current treatments were associated with side effects along with limited efficacy. There is an unmet need for safe and effective treatments for DRP.Study Sponsored By:ACADIA Pharmaceuticals Inc.DisclosuresTF is a consultant with Frangiosa & Associates, LLC.VB and AT have no relevant financial relationships to disclose.TB, BK, and VA are employees of and may hold stock and/or stock options with ACADIA Pharmaceuticals Inc.

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Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01700-z ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Mercedes Guilabert ◽

Alba Martínez-García ◽

Marina Sala-González ◽

Olga Solas ◽

José Joaquín Mira

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Healthcare Services ◽

Paediatric Population ◽

Cross Sectional Study ◽

Sectional Study ◽

Optimal Care ◽

Cross Sectional ◽

Patient Reported ◽

Mean Time

Abstract Objective To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in Spain involving patients associated with the Spanish Rare Diseases Federation [Federación Española de Enfermedades Raras] (FEDER). A modified version of the PREM IEXPAC [Instrumento para evaluar la Experiencia del Paciente Crónico] instrument was used (IEXPAC-rare-diseases). Scores ranged between 0 (worst experience) and 10 (best experience). Results A total of 261 caregivers (in the case of paediatric population) and patients with rare diseases (response rate 54.4%) replied. 232 (88.9%) were adult patients and 29 (11.1%) caregivers of minor patients. Most males, 227 (87%), with an average age of 38 (SD 13.6) years. The mean time since confirmation of diagnosis was 7.8 (SD 8.0) years. The score in this PREM was 3.5 points out to 10 (95%CI 3.2–3.8, SD 2.0). Caregivers of paediatric patients scored higher, except for coordination of social and healthcare services. Conclusions There are wide and important areas for improvement in the care of patients with rare diseases. This study involves a first assesment of the experience of patients with rare diseases in Spain.

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