Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 131
Filtrar
1.
Eur J Med Genet ; 63(12): 104062, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32931946

RESUMO

The COVID-19 pandemic has had significant health, social, and economic consequences internationally. While the pandemic has direct implications on infected patients and families, there is a need to examine the pandemic's effect on patients with non-COVID-19-related diseases. This study examines the impact of the COVID-19 pandemic on 272 rare disease patients with 89 distinct rare diseases in Hong Kong using a cross-sectional online survey between April 10 and April 29, 2020 from the patient and caregiver perspective. The pandemic has impacted patient's health status in 46%, service use patterns in 71%, mental health in 79%, daily living in 82%, social life in 92%, and financial status in 81% of patients. Patient's health status, medical and rehabilitation, and mental health were more impacted by the COVID-19 pandemic in the group of patients with any level of dependency according to the Barthel Index for Activities of Daily Living compared with that in the group of patients who are fully independent (p < 0.0001; p < 0.0001; p = 0.0420). This study is the first study to examine the impact of COVID-19 pandemic on the rare disease population in Hong Kong, and demonstrates the pandemic's effect on service and resource utilization, and patient's physical and mental well-being.


Assuntos
Atividades Cotidianas , Pandemias , Qualidade de Vida , Doenças Raras , Atividades Cotidianas/psicologia , Adolescente , Adulto , Idoso , Ansiedade/complicações , Ansiedade/etiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hong Kong/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Saúde Mental , Pessoa de Meia-Idade , Pandemias/economia , Qualidade de Vida/psicologia , Doenças Raras/complicações , Doenças Raras/economia , Doenças Raras/enfermagem , Doenças Raras/psicologia , Inquéritos e Questionários
2.
Health Psychol ; 39(10): 912-920, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32584069

RESUMO

OBJECTIVE: The goal of this study was to examine the role of stress and four different types of social support in satisfaction with life (SWL) among adults with rare diseases (RDs). We examined whether support is directly related to SWL (main effects model) or related through moderating the inverse relationship between stress and SWL (stress-buffering hypothesis). METHOD: Data came from a cross-sectional survey of adults living in the United States diagnosed with any RD. Participants (n = 1,203) filled out measures of stress, four short-form scales of social support (emotional, informational, tangible, companionship), and SWL. Hierarchical multiple regression was used to test both the main effects model and stress-buffering hypothesis. RESULTS: Controlling for age, gender, years since diagnosis, and symptom severity, emotional support, but not informational or tangible support, positively predicted SWL. Companionship support was related to SWL over and above other factors. Stress negatively predicted SWL, but none of the types of support moderated this relationship. CONCLUSION: Results suggest companionship and emotional support are beneficial to individuals with RDs regardless of their stress levels. Intervention research should focus on ways to foster more companionship and emotional support to improve SWL in this underserved population. (PsycInfo Database Record (c) 2020 APA, all rights reserved).


Assuntos
Doenças Raras/psicologia , Apoio Social , Estresse Psicológico/psicologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal
3.
Health Qual Life Outcomes ; 18(1): 177, 2020 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-32522194

RESUMO

BACKGROUND: Rare diseases may be life-threatening or chronically debilitating conditions. Patient care needs are often complex and challenging to coordinate and deliver effectively. Rare diseases and their clinical management may therefore substantially impact on patients' health-related quality of life (HRQOL). The use of patient-reported outcome measures (PROMs) may complement clinical assessments by elucidating patients' perspectives on their health status and care priorities. This study explored the opinions of patients and clinicians on the use of PROMs in the management of patients with rare diseases in routine clinical practice. METHODS: A total of 15 semi-structured one-to-one interviews were conducted with four patients with primary sclerosing cholangitis (PSC); five renal transplant recipients; and six PSC doctors from University Hospitals Birmingham (UHB) NHS Foundation Trust. A focus group session was also conducted with 10 clinical staff members (doctors, nurses and other allied health professionals from UHB). The suitability and acceptability of the Chronic Liver Disease Questionnaire (CLDQ) and the Short Form 12 (SF12) were assessed by patients with PSC and their doctors while the Paediatric quality of life inventory Transplant Module (PedsQL-TM) and the EuroQoL-5 dimensions (EQ. 5D) were evaluated by the renal transplant recipients and their doctors. The discussions were audio recorded and transcribed verbatim. Coding of the transcripts was done using the Nvivo 11 Plus software. Thematic analysis was conducted to identify the main themes and subthemes. RESULTS: Four themes were identified, namely: (i) potential benefits of PROMs in the management of rare diseases; (ii) views on selected questionnaires; (iii) practical considerations for implementation; and (iv) potential facilitators and barriers of implementation. Patients and clinicians suggested that the use of ePROMs may facilitate patient-centred care by promoting patient-clinician communication, highlighting aspects of HRQOL that are important to patients and encouraging patient involvement in their care. They also felt that the disease-specific CLDQ and PedsQL-TM were more relevant than the generic SF12 and EQ-5D. CONCLUSIONS: Patients with rare diseases often experience impaired HRQOL. The use of an ePROM system may enhance the routine management of patients with rare diseases.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Doenças Raras/psicologia , Feminino , Grupos Focais , Humanos , Masculino , Pesquisa Qualitativa , Doenças Raras/terapia
4.
BMC Public Health ; 20(1): 860, 2020 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-32503483

RESUMO

BACKGROUND: Finding reliable information on one of more than 7000 rare diseases is a major challenge for those affected. Since rare diseases are defined only by the prevalence criterion, a multitude of heterogeneous diseases are included. Common to all, however, are difficulties regarding information access. Even though various quantitative studies have analyzed the use of different information sources for specific rare diseases, little is known about the use of information sources for different rare diseases, how users rate these information sources based on their experiences, and how the use and importance of these information sources change over time. METHODS: Fifty-five patients with a variety of rare diseases and 13 close relatives participated in qualitative interviews. For these interviews, a semi-structured guideline was developed, piloted, and revised. Data analysis involved a qualitative content analysis developed by Philipp Mayring. RESULTS: The participants considered internet as the most important and widespread information source, especially for early information. Although patients have difficulty dealing with information obtained online, they consider online searching a quick and practical option to gather information. During the course of the disease, personal contact partners, especially self-help associations and specialized doctors, become more important. This is also because information provided online is sometimes insufficiently detailed to answer their information needs, which can be complemented by information from doctors and self-help. CONCLUSIONS: People rarely use just one type of source, but rather refer to different sources and informants. The source used depends on the type of information sought as well as other person-related factors such as preexisting knowledge and the disease stage. To improve people's information searching and connect them with medical specialists in rare diseases, a central information portal on rare diseases might be a suitable access point to provide free and quality assured information for patients, caregivers, and physicians. This would allow not only patients but also doctors to find quality assured information on symptoms and therapies as well as patient associations and specialized doctors.


Assuntos
Cuidadores/psicologia , Informação de Saúde ao Consumidor/estatística & dados numéricos , Comportamento de Busca de Informação , Doenças Raras/psicologia , Adulto , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto Jovem
5.
Fertil Steril ; 113(1): 4-5, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32033721

RESUMO

There are conditions that are rare and that most providers are unaware of or conditions that consist of a series of symptoms for which there is no agreement that they are even a medical condition. These include painful nocturnal erections, post-orgasmic illness syndrome, body dysmorphic disorder, and post-finasteride syndrome. While some have a psychiatric basis, others clearly have an organic pathophysiology, while for others, there remains much controversy. This month's Views and Reviews will inform the reader of these conditions so they may recognize affected patients and direct them towards appropriate resources for their care.


Assuntos
Andrologia/métodos , Conscientização , Conhecimentos, Atitudes e Prática em Saúde , Doenças Raras/diagnóstico , Andrologia/normas , Transtornos Dismórficos Corporais/diagnóstico , Transtornos Dismórficos Corporais/psicologia , Humanos , Masculino , Parassonias do Sono REM/diagnóstico , Parassonias do Sono REM/psicologia , Doenças Raras/psicologia , Síndrome
6.
Fertil Steril ; 113(1): 6-12, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32033724

RESUMO

This literature review presents two unusual and mystifying disorders of penile erection: painful nocturnal erections, alternatively termed sleep-related painful erections, and idiopathic stuttering priapism, a variant of recurrent ischemic priapism in which no cause is discernible. The disorders are closely related although they are distinct clinically and pathologically. The main subject areas of discussion are recognition, clinical evaluation and management although current concepts surrounding their causes and mechanisms are also addressed. It is acknowledged that despite the perceived rarities of these disorders they are impactful in terms of their disease profiles and consequences. Future advances in their management will require continued development of evidence-based treatments.


Assuntos
Ereção Peniana/fisiologia , Priapismo/diagnóstico , Priapismo/fisiopatologia , Parassonias do Sono REM/diagnóstico , Parassonias do Sono REM/fisiopatologia , Humanos , Masculino , Ereção Peniana/psicologia , Priapismo/psicologia , Parassonias do Sono REM/psicologia , Doenças Raras/diagnóstico , Doenças Raras/fisiopatologia , Doenças Raras/psicologia
8.
Cien Saude Colet ; 24(10): 3651-3661, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31576995

RESUMO

Our subject is a dialogue with six literary works, understood in the publishing market as biographies that consider first and second person narratives on the relationship with situations of chronic, rare or complex disease. As a theoretical essay, we try to build an argument: these biographies are public forms of people's construction and presentation; they represent the possibility of assigning a place of visibility to moral experiences, of great public appeal, but which must be recognized in health care and training as political tools for reflection on practices. Thus, they become testimonies, providing less personal life histories and more biographical paths, with an interactionist dialogue among meanings, places, people, positions, stigma, right violations and discrimination.


Assuntos
Biografias como Assunto , Doença Crônica/psicologia , Doenças Raras/psicologia , Humanos
9.
Cien Saude Colet ; 24(10): 3673-3682, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31576997

RESUMO

This paper aims to discuss the experience of relatives of children and adolescents with rare diseases as a moral experience. Moral experience is characterized by suffering that is socially interpreted as a catastrophic event, mobilizing resources for signification and meaning that allow the reconstruction of identity, the appreciation of itineraries from a rare diagnosis, as well as the search for peers. Thus, the construction of relationships of recognition, alterity, and belonging is fundamental. From a symbolic interactionist perspective, the results show two significant cores: (1) shock as a surprise in the face of an unexpected diagnosis, leading to the search for peers and promotion of social recognition; (2) the cost involved with the course of a rare disease that implies a care work and the acquisition of associative capital as a possibility of strengthening and building the social capital of health care.


Assuntos
Família/psicologia , Doenças Raras/psicologia , Capital Social , Estresse Psicológico/psicologia , Adolescente , Doença Catastrófica/psicologia , Criança , Assistência à Saúde/organização & administração , Feminino , Grupos Focais , Humanos , Masculino , Grupo Associado , Doenças Raras/diagnóstico
10.
Cien Saude Colet ; 24(10): 3701-3708, 2019.
Artigo em Português | MEDLINE | ID: mdl-31576999

RESUMO

We acknowledge that people with rare conditions constitute a group with a specific social identity and seek to understand what the implications of this acknowledgement are either in the stigmatization or emancipation of these individuals. We base ourselves on the observation that many people who are said to have rare conditions are told that their symptoms constitute a "rare disease," without specifying which illness it might be. And, in this respect, many people with rare conditions are considered "handicapped," people with "learning difficulties," or are given many other labels that are not always socially well accepted. This article is structured around three analytical standpoints, basing ourselves on Stuart Hall, Axel Honneth and Annemarie Jutel. Initially, we discuss the construction of the social identity of people with rare conditions based on Hall's definition of the "identity crisis." We then examine the identity of people with rare conditions from the perspective of the theory of justice as recognition, especially in relation to what Honneth refers to as "reciprocal recognition." Lastly, we highlight some of the specificities of the demands for recognition of people with rare conditions - albeit without a diagnosis - basing our study on the sociology of diagnosis from the standpoint of Annemarie Jutel.


Assuntos
Doenças Raras/psicologia , Identificação Social , Estereotipagem , Humanos , Doenças Raras/diagnóstico
12.
Orphanet J Rare Dis ; 14(1): 53, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30813964

RESUMO

Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a 5-year-old boy with Worster Drought Syndrome, I became inadvertently caught in the trap of focusing on his diagnosis rather than CS as a patient. I fumbled around CS's past medical history by fervently asking about all the different types of seizures he was plagued by. It was only after CS's mother, TS (pseudonym), volunteered the psychosocial challenges she faced caring for CS that I realised the strong implicit bias I had towards biomedical aspects of patient care. I discovered that TS was robbed of being able to celebrate CS's developmental milestones, as they posed unique challenges with very serious risks. Having learned the extent of such psychosocial challenges, I searched to understand the origin of biases towards biomedicine, within myself and within the medical system. I attribute my own biases in part to the current state of medical education, which disproportionately focuses on the scientific, rather than psychosocial and humanistic factors. Systemically, there is a large commercial driving force behind scientific research into rare illnesses. The interest in rare illnesses displayed by pharmaceutical industries only after the incentivisation by various countries highlight the socio-political constraints that bind research in this field. These biases, along with the marginalisation of patients and families with rare illnesses, means there is a very real risk that the goals of all stakeholders are incongruous. As such, it is imperative that we give these patients and families a voice.


Assuntos
Viés , Assistência à Saúde/normas , Medicina/normas , Doenças Raras/psicologia , Doenças Raras/terapia , Educação Médica , Humanos , Medicina/tendências , Psicologia , Doenças Raras/patologia
13.
J. bras. nefrol ; 41(1): 131-141, Jan.-Mar. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1002426

RESUMO

Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.


Resumo A assistência a pacientes com doenças crônicas e raras é complexa, principalmente pela falta de disseminação de conhecimento sobre a doença, o que dificulta o diagnóstico preciso e precoce, além da necessidade da realização de exames específicos, por vezes de alta complexidade e custo. Somam-se a esses fatores dificuldades na obtenção de tratamento adequado quando disponível, na conscientização do paciente e da família sobre a doença e na aderência ao tratamento. A cistinose nefropática está entre essas doenças. Após mais de 20 anos como centro de atendimento a esses pacientes, os autores propõem um protocolo de seguimento, o qual vem sendo empregado com melhora na qualidade da assistência e consiste de uma abordagem multidisciplinar, incluindo, principalmente, atendimento prestado por médico, enfermeiro, psicólogo, nutricionista e assistente social. Neste artigo, cada área expõe de maneira objetiva como abordar pontos que envolvem as etapas do diagnóstico e sua comunicação ao paciente e a seus familiares ou responsáveis, abrangendo as particularidades da doença e do tratamento, o impacto na vida do paciente e de sua família, a abordagem das questões psicológicas e sociais e orientações quanto a medicamentos e dietas. Considera-se que este protocolo poderia ser adaptado ao seguimento de pacientes portadores de outras doenças raras, incluindo aquelas com envolvimento renal. Com essa proposta, espera-se alcançar o maior número de profissionais envolvidos no seguimento desses pacientes, fortalecendo as bases para a criação de um protocolo nacional, observando-se as particularidades de cada caso.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Cistinose/diagnóstico , Cistinose/terapia , Doenças Raras/diagnóstico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Equipe de Assistência ao Paciente , Gravidez , Protocolos Clínicos , Diálise Renal , Transplante de Rim , Resultado do Tratamento , Cistinose/complicações , Cistinose/psicologia , Doenças Raras/complicações , Doenças Raras/psicologia , Doenças Raras/tratamento farmacológico , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Falência Renal Crônica/etiologia
14.
Acta Chir Belg ; 119(2): 123-124, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30764721

RESUMO

Secretan's syndrome is a rare clinical condition with recurrent swelling of the forearm and dorsum of the hand, together with flexion contracture of the fingers and a thumb that is spared. The disease is associated with automutilation. We present a typical case of a 42-year old women with Secretan's syndrome.


Assuntos
Traumatismos do Braço/etiologia , Contratura/etiologia , Edema/etiologia , Traumatismos da Mão/etiologia , Automutilação/complicações , Automutilação/diagnóstico , Adulto , Traumatismos do Braço/diagnóstico , Traumatismos do Braço/psicologia , Feminino , Traumatismos da Mão/diagnóstico , Traumatismos da Mão/psicologia , Humanos , Doenças Raras/diagnóstico , Doenças Raras/etiologia , Doenças Raras/psicologia , Automutilação/psicologia , Síndrome
15.
J Bras Nefrol ; 41(1): 131-141, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-30465592

RESUMO

Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.


Assuntos
Cistinose/diagnóstico , Cistinose/tratamento farmacológico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Protocolos Clínicos , Cistinose/complicações , Cistinose/psicologia , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Feminino , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/etiologia , Transplante de Rim , Masculino , Equipe de Assistência ao Paciente , Gravidez , Doenças Raras/complicações , Doenças Raras/psicologia , Diálise Renal , Resultado do Tratamento , Adulto Jovem
16.
Genet Med ; 21(2): 409-416, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29875426

RESUMO

PURPOSE: In genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants' personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also affect responses to results. METHODS: Using data from GeneScreen, an exploratory adult screening project that targets 17 genes related to 11 medically actionable conditions, we address four questions: (1) Do participants self-select based on actual or perceived risk for one of the conditions? (2) Do participants understand negative results? (3) What are their psychosocial responses? (4) Are negative results related to changes in reported health-related behaviors? RESULTS: We found disproportionate enrollment of individuals at elevated prior risk for conditions being screened, and a need to improve communication about the nature of screening and meaning of negative screening results. Participants expressed no decision regret and did not report intention to change health-related behaviors. CONCLUSION: This study illuminates critical challenges to overcome if genomic screening is to benefit the general population.


Assuntos
Testes Genéticos , Resultados Negativos , Relações Médico-Paciente , Adolescente , Adulto , Revelação , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Doenças Raras/diagnóstico , Doenças Raras/genética , Doenças Raras/psicologia , Adulto Jovem
17.
Eur J Med Genet ; 62(5): 335-341, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30503854

RESUMO

In this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Once people had agreed, a specific additional appointment was organised for them. Taking part in the project therefore involved additional travel and appointments ('clinical labour'). We found that interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relationships with NHS healthcare professionals would be like in future. A few participants worried about whether Genomics England's biorepository would remain protected and an asset of the NHS. To honour and foster participants' trust - which may easily be lost - and their clinical labour, we therefore recommend ongoing public engagement and consultation about how genomics is being integrated more widely across specialties (especially given current funding and staffing constraints in the NHS) within the newly formed NHS Genomic Medicine Service.


Assuntos
Genética Médica/métodos , Conhecimentos, Atitudes e Prática em Saúde , Doenças Raras/psicologia , Confiança , Sequenciamento Completo do Genoma , Genética Médica/ética , Humanos , Doenças Raras/genética , Reino Unido
18.
Child Care Health Dev ; 45(1): 96-103, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30370696

RESUMO

DESCRIPTIVE TITLE: Parents of children with rare diseases face pervasive challenges in meeting medical and social care needs. Existing research on the parents' experience of caring for a child with a rare disease is limited. This paper offers suggestions for better supporting families living with rare disease as well as possible avenues of future research. BACKGROUND: Parents of children with rare diseases face pervasive challenges in meeting medical and social care needs. Existing research on the parent's experience of caring for a child with a rare disease is limited. METHODS: An interpretive phenomenological approach was applied in this inquiry. Fifteen parents of children with rare diseases participated in semistructured interviews. RESULTS: Interpretive thematic analysis revealed that due to the rarity of the disease and an overall lack of knowledge of the disease, there is an increase in the burden on the family in relation to "rarity" in addition to "disability." Four insights were also revealed: (a) Parents often know more about the disease then Health Care providers, and this leads to entanglements in communication and collaboration as experts and parents; (b) there is lack of coordination of care between providers and services caring for children with rare diseases; (c) there is a gap in accessibility to government supports; and (d) due to fragmented care, parents must fill the aforementioned gaps by juggling multiple roles including that of advocate, case manager, and medical navigator. CONCLUSION: This paper offers suggestions for better supporting families living with rare disease as well as possible avenues of future research.


Assuntos
Acesso à Informação/psicologia , Serviços de Saúde da Criança , Determinação de Necessidades de Cuidados de Saúde , Transtornos do Neurodesenvolvimento , Pais/psicologia , Doenças Raras , Adaptação Psicológica , Canadá/epidemiologia , Criança , Pré-Escolar , Feminino , Frustração , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Comportamento de Busca de Informação , Masculino , Transtornos do Neurodesenvolvimento/psicologia , Transtornos do Neurodesenvolvimento/terapia , Relações Pais-Filho , Pais/educação , Relações Profissional-Família , Pesquisa Qualitativa , Doenças Raras/psicologia , Doenças Raras/terapia , Encaminhamento e Consulta/estatística & dados numéricos , Apoio Social
19.
Qual Health Res ; 29(6): 889-899, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30296923

RESUMO

This qualitative study conducted in France of "individuals living with a pemphigus" (ILPs; N = 54) highlights the taxing diagnostic trajectory of those suffering from these rare autoimmune diseases. Beyond enduring a diagnostic period that may prove long, during their numerous medical appointments, these individuals internalize the expectations of the medical professionals who are treating them. In some cases, numerous inconclusive medical tests and, at times, a doctor's condescension may push the patient toward a process of renunciation. This article relates the ILPs' critiques of the medical work conducted during the trying diagnostic period.


Assuntos
Atitude Frente a Saúde , Pênfigo/diagnóstico , Pênfigo/psicologia , Doenças Raras/diagnóstico , Doenças Raras/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , França , Humanos , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Relações Médico-Paciente , Pesquisa Qualitativa , Adulto Jovem
20.
Gesundheitswesen ; 81(11): 902-906, 2019 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-29653453

RESUMO

OBJECTIVES: In 2013 the German Ministry of Health initiated a "National Plan of Action for People with Rare Diseases" (NAMSE), in order to improve medical treatment for people with rare diseases. The aim of NAMSE is to set up appropriate medical care for those affected, as well as to obtain information on the current state of care for these patients. The aim of this study was to obtain information on the oral health-related quality of life (OHRQoL) of people with rare diseases with oral involvement. METHODS: In the context of the NAMSE plan, special consultation times were introduced for people with rare diseases with oral involvement. Using the standardized OHIP 14 questionnaire, specific information was acquired on OHRQoL, as was as general information on the disease in question. RESULTS: During consultation hours, 50 people were treated who, on average, travelled 143 km each way. On average, patients had to wait 5 years before the final diagnosis of their rare disease was reached. The mean OHIP 14 overall score achieved was 26.4. DISCUSSION: The long distances travelled show the effort involved for patients, especially for those who come for a series of sessions. This has led to a call for a nationwide system of special consultation sessions for rare diseases with oral involvement - something NAMSE has also called for. There seems to be a markedly worse OHRQoL among all our patients. Overall, rare diseases with oral involvement appear to benefit more from an earlier diagnosis of the disease than do rare diseases without any oral involvement.


Assuntos
Saúde Bucal , Qualidade de Vida , Doenças Raras/complicações , Inquéritos de Saúde Bucal , Feminino , Alemanha , Humanos , Masculino , Saúde Bucal/estatística & dados numéricos , Qualidade de Vida/psicologia , Doenças Raras/psicologia , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA