Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases

2014 ◽  
Vol 155 (9) ◽  
pp. 329-333
Author(s):  
Gábor Pogány
Keyword(s):  
Social Services ◽  
Rare Diseases ◽  
Poor Quality ◽  
Congenital Diseases ◽  
Governmental Organization ◽  
Patient Organizations ◽  
Long Duration ◽  
Care And Support ◽  
Educational Professionals ◽  
Duration Of Hospitalization

The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still “incidental” to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable “pathways” and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society. Orv. Hetil., 2014, 155(9), 329–333.

scholarly journals eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alessia Paglialonga ◽  
Raffaella Gaetano ◽  
Leema Robert ◽  
Marine Hurard ◽  
Luisa Maria Botella ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Working Group ◽  
Vascular Diseases ◽  
Mobile App ◽  
Reference Network ◽  
Training And Education ◽  
Digital Platforms ◽  
Patient Organizations ◽  
European Reference Network ◽  
Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

THE STUDY WAS CARRIED OUT TO ASSESS QUALITY OF SLEEP AND PERCEIVED SLEEP DISTRACTORS AMONG PATIENTS ADMITTED AT MMIMS&R HOSPITAL MULLANA AMBALA.

2021 ◽  
pp. 22-26
Author(s):  
Prakash Jha ◽  
Preeti Anand ◽  
Prashant Prashant ◽  
Priya Priya ◽  
Priyanka Roy ◽  
...  
Keyword(s):  
Sleep Quality ◽  
Sampling Technique ◽  
Poor Quality ◽  
Quality Of Sleep ◽  
Early Recovery ◽  
Quality Sleep ◽  
Duration Of Hospitalization ◽  
Education Status ◽  
Assess Quality

A good high-quality of sleep and it's have an effect on in daily existence of both the healthful and sick character turns into one of the most important cognizance of problem. Aims: The study aimed to assess the Quality of Sleep and Perceived Sleep Distractors among patients. Methods: Non-Experimental descriptive research design was conducted among 135 patients through convenient sampling technique. Modied Sleep quality Scale and Structured Perceived Sleep Distractors Perfoma was used. Results: Showed (27.4%) of the patients had poor quality of sleep, most of the patients (47.4%) were having fair quality of sleep. Most of the patients (52.6%) were having severe distractions while sleeping, less than half (44.4%) were having moderate level of distractions while sleeping only (3.0%) perceived very severe distraction during hospital stay. There was a moderate positive relationship between Quality of Sleep and Perceived Sleep Distractors NS Score(r=0.113, p=0.19 ). Further the results also indicated that quality of sleep is only associated with Patient admitted in 2 2 (department) (χ = 30.652, p=0.01) whereas perceived sleep distractors is associated with Education status (χ = 17.280, 2 2 p=0.02), Duration of Hospitalization (χ = 45.425, p=0.00), Patient admitted in (department) (χ = 28.066, p=0.03).Conclusion: The study concludes that there is a need to identify factors responsible that hinders good quality sleep among patients admitted in hospital as well as the sleep quality can be enhanced by decreasing the sleep distractors and thus it can be helpful in the early recovery of the patients

Couples Facing Cancer

2021 ◽  
pp. 729-736
Author(s):  
Hoda Badr ◽  
Courtney Bitz
Keyword(s):  
Routine Care ◽  
Poor Quality ◽  
Psychosocial Adaptation ◽  
Future Research ◽  
Great Promise ◽  
Clinical Implications ◽  
Social Challenges ◽  
Healthcare Settings ◽  
Care And Support

Cancer survivors experience significant physical, psychological, and social challenges that contribute to poor quality of life. Intimate partners provide critical care and support across the cancer continuum, but they report psychological distress, lack basic healthcare knowledge and skills, and experience increased tension and conflict in their relationships with survivors. Couple-based interventions hold great promise in cancer because they can simultaneously address survivor, partner, and relationship concerns. However, they are seldom implemented in healthcare settings as part of routine care. This chapter will therefore integrate what research has taught us about couples and cancer and what we have learned from couples in the clinical setting. We begin with an overview of challenges faced by couples across the cancer continuum, including biopsychosocial stressors. Next, we describe different perspectives that have shaped descriptive and intervention research on couples’ psychosocial adaptation to cancer. We conclude with clinical implications and directions for future research.

scholarly journals Rediscovering Recovery: Reconceptualizing Underlying Assumptions of Citizenship and Interrelated Notions of Care and Support

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Caroline Vandekinderen ◽  
Griet Roets ◽  
Rudi Roose ◽  
Geert Van Hove
Keyword(s):  
Mental Health ◽  
Social Services ◽  
Mental Health Problems ◽  
Research Policy ◽  
Health Problems ◽  
Policy And Practice ◽  
Social Service Delivery ◽  
Care And Support ◽  
Conceptual Distinction ◽  
The Individual

Over the last few decades, research, policy, and practice in the field of mental health care and a complementary variety of social work and social service delivery have internationally concentrated onrecoveryas a promising concept. In this paper, a conceptual distinction is made between anindividualapproach and asocialapproach to recovery, and underlying assumptions of citizenship and interrelated notions and features of care and support are identified. It is argued that the conditionality of the individual approach to recovery refers to a conceptualization of citizenship asnormative, based on the existence of a norm that operates in every domain of our society. We argue that these assumptions place a burden ofself-governanceon citizens with mental health problems and risk producing people with mental health problems as nonrecyclable citizens. The social approach to recovery embraces a different conceptualization of citizenship asrelational and inclusiveand embodies the myriad ways in which the belonging of people with mental health problems can be constructed in practice. As such, we hope to enable social services and professionals in the field to balance their role in the provision of care and support to service users with mental health problems.

A Study of Maternity Provision in the UK in Response to the Needs of Families Who Have a Multiple Birth

1992 ◽  
Vol 41 (4) ◽  
pp. 353-364 ◽  
Author(s):  
J.R. Spillman
Keyword(s):  
Social Services ◽  
Current Practice ◽  
Multiple Pregnancy ◽  
Higher Order ◽  
Multiple Birth ◽  
Successful Result ◽  
Social And Emotional ◽  
Care And Support ◽  
High Risk Infants ◽  
The Uk

Multiple pregnancy is NEVER planned. A few years ago one could categorically make such a statement. Perhaps nowadays one cannot be so sure. Although parents are still unlikely to be able to plan such an event, it does seem that current infertility treatments may allow or even encourage practitioners to use methods which predispose to a multiple pregnancy. The practice of returning several fertilised embryos to the uterus in the hope of achieving a successful result has meant that many parents who longed for a baby have had to adjust to the realisation of a multiple pregnancy with all the effects such an occurrence has on family physical, social and emotional resources.The Study of Triplets and Higher Order Births by the Office of Population Censuses and Surveys [1] highlighted the striking increase in Multiple Births in recent years. This was particularly evident in the case of triplets and higher order births. (Fig. 1) Care of these high-risk infants is costly in resources and no increased funding has been given to the National Health Service or Social Services budgets to provide care and support for the families.This study endeavours to ascertain the needs of such families preconceptually, antenatally, intra-partum, postnatally and in the early months following the birth. It also tries to assess how appropriate current practice is in meeting these needs.

scholarly journals The urgent need to empower rare disease organizations in China: an interview-based study

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
...  
Keyword(s):  
Rare Disease ◽  
Orphan Drug ◽  
Rare Diseases ◽  
General Public ◽  
Unmet Needs ◽  
Financial Resources ◽  
Western Countries ◽  
Disease Awareness ◽  
Patient Organizations ◽  
The Government

Abstract Background Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease represents a huge challenge for the healthcare system. In Western countries, patient organizations have been playing an integral role in raising awareness, advocating legislation, and supporting drug development. This study aims to assess the unmet needs of rare disease patient organizations in China, and identify their unmet needs, providing essential information for the government and legislators. Results A total of 28 individuals representing 28 patient organizations in China were interviewed. Most organizations do not have official registration, employees, written standard operation protocol, or reliable financial resources. Misdiagnosis or delayed diagnosis is common, and treatment is often lacking. Due to the lack of financial resources, no organizations have been able to sponsor academic research, unlike their counterparts in Western countries. As to challenges, 71.4% of interviewees listed lack of rare disease awareness among the general public, while 67.9% selected lack of financial resources. Further, only 7.3% of these organizations received support from the government, and 28.6% received support from the general public. As to recommendations to the government, 82.1% of interviewees selected special insurance programs for rare diseases because rare diseases have been generally excluded from the national medical insurance programs. In addition, 78.6% of interviewees recommended to stimulate rare disease research, 75% recommended to import orphan drugs, and 71.4% recommended legislation of an orphan drug act, highlighting the urgent need of therapies. Conclusions Due to lack of support and rare disease awareness, patient organizations in China are still in the early phase. To empower these patient organizations, the interviewees’ recommendations, including legislating orphan drug act and releasing official definition of rare diseases, should be considered by the government and legislators.

scholarly journals Practical Experience with Providing Specialized Social Services for Rare Disease Patients / Praktické skúsenosti v poskytovaní špeciálnych sociálnych služieb pre pacientov so zriedkavými chorobami

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 47-54
Author(s):  
A. Madunová ◽  
M. Duračinská
Keyword(s):  
Muscular Dystrophy ◽  
Rare Disease ◽  
Social Services ◽  
Slovak Republic ◽  
Information Service ◽  
Neuromuscular Diseases ◽  
Early Years ◽  
Personal Assistance ◽  
Patient Organizations ◽  
Wide Range

Organization of Muscular Dystrophy in the Slovak Republic (OMD in SR) is the only specific organization in Slovakia which associates children and adults with muscular dystrophy and other types of neuromuscular diseases (hereafter only NMD) and their families. The organization was founded as an independent public association in 1993. It has been providing social counselling and other specialized social services for its members and clients. In its early years, it performed the community service and nonprofit activities on a voluntary basis; today, a professional team of nine takes part in its activities, seven of which are people with extensive disability, plus two assistants. This change could take place thanks to having obtained the status of a protected workplace in 2009. In accordance with EURORDIS recommendations, OMD in SR takes care of activities in 3 different areas: information services and help line, therapeutic recreational programmes, and respite care services. As a part of the information service, it provides specialized social counselling for disabled people via phone, email, in person or in the field − at a patient’s place. The organization also publishes its own quality magazine Ozvena (ECHO), which is distributed free-of-charge to all members four times a year. People with NMD are involved in the creation of the magazine from the position of experts and patients. The organization is particularly devoted to Recreational activities the camps for children with NMD, especially boys with Duchenne muscular dystrophy. Activities organized every year include also integrative national meetings of members. The group of relief services includes providing specialized social services in the Personal Assistance Services Agency founded under OMD in SR. It provides wide-range service for 180 personal assistance users in Bratislava region; however, counselling covers the whole Slovakia. For a long time, the organization has been making effort to change regulations in the legislation which concern several aspects essential for people with NMD. Slovakia is not doing enough to provide financial support for functioning of patient organizations − the subsidy system does not take them into account and donation support is non-existent. A tool for change could and should be the National Plan for Rare Disease, which will not be really implemented without providing subsidies for patient organizations working in the area of rare diseases. In 2012, the organization became a member of EURORDIS and Alliance TREAT - NMD.

scholarly journals PRIORITY NEEDS REFERRED BY FAMILIES OF RARE DISEASE PATIENTS

2016 ◽  
Vol 25 (4) ◽  
Author(s):  
Geisa dos Santos Luz ◽  
Mara Regina Santos da Silva ◽  
Francine DeMontigny
Keyword(s):  
Rare Disease ◽  
Social Services ◽  
Rare Diseases ◽  
Healthcare Services ◽  
Strong Impact ◽  
Structured Interviews ◽  
The Family ◽  
Priority Needs ◽  
The Impact ◽  
The Relationship

ABSTRACT Rare diseases cause strong impact in families and generate needs beyond those associated with the most frequent diseases. Some of these needs are the inclusion of new responsibilities and the relationship with the healthcare and social services. This study is aimed at identifying the priority needs of families of rare disease patients as perceived from the time of diagnosis. This is a qualitative study conducted with 16 relatives of rare disease patients who live in the state of Rio Grande do Sul. Data were collected from November 2012 to March 2013, through semi-structured interviews and submitted to content analysis, based on the bioecological system of human development. The results indicated the following priority needs: access to social and healthcare services; knowledge about rare diseases; social support structures; acceptance and social integration; preservation of personal and family life. It was concluded that (re)organizing services and meeting the specific needs are preconditions to qualify nursing care and soften the impact the rare disease has on the family.

Poor Quality of Mental Health Assessment Reports in UK Family Courts: A ‘call to Action’

2016 ◽  
Vol 33 (S1) ◽  
pp. S460-S460
Author(s):  
R. Kurz
Keyword(s):  
Mental Health ◽  
Social Services ◽  
Mental Health Professionals ◽  
Child Protection ◽  
Ad Hoc ◽  
Health Assessment ◽  
Poor Quality ◽  
Family Court ◽  
Family Courts ◽  
Assessment Reports

IntroductionProf. Jane Ireland found that 65% of assessment reports sampled from UK family courts were ‘poor’ or ‘very poor’.ObjectiveThe presentation raises international awareness of the problem and explains the contextual factors that contribute to malpractice.AimsThe paper highlights typical deficiencies in family court assessments and forensic processes in order to reduce the risk of unsafe custody rulings.MethodDue to the paucity of published academic literature ‘ad hoc’ Internet searches were utilised to collect source material and identify advocates. A range of conferences, seminars and continued professional development (CPD) events revealed the background for some of the persistent problems.ResultsThe suppression of the trauma-centric approach to mental health issues and its re-emergence are central to understanding the trajectory and how to improve professional practice.Organised Ritualised Crime Abuse Networks (ORCANs) seem to be at work infiltrating institutions that are supposed to uphold law and order.Inadequate psychometric instruments appear to beguile some mental health professionals into wrong diagnosis and testimony.ConclusionThe standard of UK family court assessments must improve. Scrapping ‘forced adoption’ legislation that drives the ‘child snatching’ culture in UK social services department would benefit society including citizens from abroad whose governments vocally criticise the removal of their children through clandestine UK ‘child protection’ procedures.Disclosure of interestThe author has not supplied his declaration of competing interest.

scholarly journals Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Stefanie Witt ◽  
Kaja Kristensen ◽  
Silke Wiegand-Grefe ◽  
Johannes Boettcher ◽  
Janika Bloemeke ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Psychosocial Support ◽  
Psychosocial Care ◽  
Routine Care ◽  
System Level ◽  
Organizational Level ◽  
Care Providers ◽  
Patient Organizations ◽  
Qualitative Interview Study ◽  
The Family

Abstract Background Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in Germany is still far from being part of routine care. We interviewed experts to explore how they describe the current pathways to psychosocial care, potential barriers and problems, and possibilities for improvements. Results We conducted telephone interviews with 49 experts working in somatic medicine, psychosocial medicine, patient organizations, child and youth welfare, and the educational sector. Interviews were transcribed and analyzed using focused interview analysis. Results document ways of access and facilities used by families to receive psychosocial care. The barriers described by the experts can be summarized on three levels: the family-organizational level, the family-psycho-emotional level, and finally, the structural system level. Accordingly, suggestions for improvement were directed at these levels. Conclusion Based on the experts' perspectives, there is ample room for improvement to facilitate the pathways to psychosocial care for children with rare diseases and their families. Unfortunately, there seems to be a long way to go before psychosocial care will be routinely provided. However, awareness of the issue among different professional groups is high, and numerous suggestions for improvement were made, including continuous expansion of services to all family members, strengthening of low-threshold services, simplifying application procedures, and more cooperation between different funding agencies as well as between different care providers.

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