UNIAMO FIMR is an Italian association committed to improving the quality of life of people with rare diseases. It represents over 95 member organizations and 600 rare diseases. The "Knowing to Assist" project provided training on rare diseases to Italian doctors to improve diagnosis and care coordination for patients. A pilot course trained 45 general practitioners and pediatricians who then trained other doctors in their regions.
The document discusses a membership meeting held by Eurordis in Amsterdam from May 13-15, 2011. It focuses on providing specialized social services for rare disease patients and integrating rare diseases into social policies. A key topic is the future Joint Action on Rare Diseases, which will address social challenges through a working package on specialized social services. Findings from EurordisCare studies show rare disease families have a high social and economic burden, experiencing lower income, stopping work, and relocating. National conferences highlighted the need to support specialized services and develop national plans or strategies for rare diseases.
The document discusses the history of efforts by the German Association of Sarcoidosis Patients and their relatives (DSV) to introduce rare diseases like sarcoidosis to medical students' education. It describes DSV's attempts since the 1980s to provide continuing education for doctors and a few successful initiatives to organize student training sessions with medical experts and sarcoidosis patients. The document concludes by outlining preliminary thoughts and proposed contents for a training package on rare diseases that could accompany future student training sessions.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Sharing expertise: transfer of experience from patient organizations to doctors and between patient
organisations"
Rainald von Gizycki, Retina Europe,
Germany
The document summarizes the key outcomes of 15 national conferences on developing national plans for rare diseases held in European countries. The conferences discussed recommendations for defining strategic plans, indicators for monitoring plans, and delivering suggestions. Key messages focused on the need for socioeconomic research, empowering patient associations in research, developing quality registries, strengthening centers of expertise, training healthcare professionals, and empowering patients in decision-making.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
UNIAMO FIMR is an Italian association committed to improving the quality of life of people with rare diseases. It represents over 95 member organizations and 600 rare diseases. The "Knowing to Assist" project provided training on rare diseases to Italian doctors to improve diagnosis and care coordination for patients. A pilot course trained 45 general practitioners and pediatricians who then trained other doctors in their regions.
The document discusses a membership meeting held by Eurordis in Amsterdam from May 13-15, 2011. It focuses on providing specialized social services for rare disease patients and integrating rare diseases into social policies. A key topic is the future Joint Action on Rare Diseases, which will address social challenges through a working package on specialized social services. Findings from EurordisCare studies show rare disease families have a high social and economic burden, experiencing lower income, stopping work, and relocating. National conferences highlighted the need to support specialized services and develop national plans or strategies for rare diseases.
The document discusses the history of efforts by the German Association of Sarcoidosis Patients and their relatives (DSV) to introduce rare diseases like sarcoidosis to medical students' education. It describes DSV's attempts since the 1980s to provide continuing education for doctors and a few successful initiatives to organize student training sessions with medical experts and sarcoidosis patients. The document concludes by outlining preliminary thoughts and proposed contents for a training package on rare diseases that could accompany future student training sessions.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Sharing expertise: transfer of experience from patient organizations to doctors and between patient
organisations"
Rainald von Gizycki, Retina Europe,
Germany
The document summarizes the key outcomes of 15 national conferences on developing national plans for rare diseases held in European countries. The conferences discussed recommendations for defining strategic plans, indicators for monitoring plans, and delivering suggestions. Key messages focused on the need for socioeconomic research, empowering patient associations in research, developing quality registries, strengthening centers of expertise, training healthcare professionals, and empowering patients in decision-making.
Workshop 6 - Brainstorming & Policy Development session: Training, information and education of MDs
"Feedback from the 15 National Conferences"
Christel Nourissier, EURORDIS
The BURQOL-RD project aims to develop a model to quantify the socio-economic burden and health-related quality of life of rare disease patients and caregivers in Europe. The 3-year project will measure these impacts for 10 rare diseases across 8 countries. Associated partners will carry out core activities while collaborating partners provide specific contributions. The project will generate standardized tools, conduct a pilot study, and refine the tools for ongoing rare disease assessment and monitoring across Europe.
The document provides recommendations for developing national plans to address rare diseases in European countries. It discusses key priorities that should be covered in national plans, including research, centers of expertise, information and patient services, gathering expert opinions, and empowering patient organizations. It also outlines elements of methodology for developing, managing, and evaluating national plans, such as governance structures, plan content, indicators, and funding. The overall goal is to build an integrated and comprehensive strategy across Europe to address the needs of rare disease patients.
Workshop 2 - Centres of expertise & Networks of experts
"Presentation of the concept, definitions and
terminology"
Samantha Parker, E-IMD, OrphanEurope
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Presentation of the International Federation for Spina
Bifida and Hydrocephalus’ primary prevention study"
Pierre Mertens, International Federation for Spina Bifida and Hydrocephalus (IF)
"The patient experience in the development and implementation of National Plans for Rare Diseases in France"
Christel Nourissier
EURORDIS General Secretary
& Member of the EU Comittee of Experts on Rare Diseases
EUROPLAN advisor
The EUROPLAN project developed recommendations for national rare disease plans and strategies based on EU guidelines. 15 national conferences were held in EU countries to discuss implementing the recommendations. Key topics discussed included establishing centers of expertise, designating them based on common quality standards, ensuring multidisciplinary care and connection to research. Conferences also addressed cross-border healthcare and screening policies.
The EPIRARE project aims to build consensus around registering rare disease patients in Europe. Over 30 months, it will explore establishing a common minimum dataset for rare diseases and develop policy scenarios for an EU-wide rare disease registry. The project involves 10 partners and is coordinated by the Italian Ministry of Health's National Institute of Health. It will examine the legal basis, data quality standards, and sustainability of a future EU rare disease registry platform.
Workshop 3 - Registries
"Outcome of the RD Task Force and EPPOSI Workshop"
on registries, Tsveta Schyns, ENRAH
Eurordis Membership Meeting 2011 Amsterdam
13 – 14 May 2011
Tsveta Schyns
This document discusses a project in Sweden aimed at achieving more equitable healthcare. The project seeks to identify methods for providing equal access to care regardless of socioeconomic status, ethnicity, gender or other factors. It involves testing approaches across 8 primary care units to improve access, health promotion, communication skills, and patient satisfaction. Initial work focuses on walk-in services, needs-based health promotion, and training professionals to be aware of their own norms. Challenges include involving the whole organization, lack of resources, and sustaining changes over time.
Introduction to the breakout sessions & case studies presentationsEUPATI
This document discusses Romania's progress toward establishing a national EUPATI platform. It notes that patients are currently represented in law debates regarding the health system and hospital ethics committees, but not in committees for the Romanian Drug Agency or health technology assessment meetings. It then outlines the initial steps taken to form a national EUPATI liaison team, including identifying trainees, academic representatives, media partners, and representatives from healthcare professional bodies. The document concludes by describing how EUPATI can benefit patients and advocates in Romania by increasing health literacy and facilitating greater participation in clinical trials and health policy decisions.
Patient involvement in medicines development – the views of patients and key ...Nowgen
"EUPATI – EU: An overview", held by Bella Starling & Suzanne Parsons (EUPATI / Nowgen) at the EUPATI-UK Network Conference on 6 March 2014 in Leeds, UK
EUPATI’s framework on Informing the “health-interested” public about medicine...Nowgen
"EUPATI's framework on Informing the “health-interested” public objectively and comprehensively about medicines R&D", presented by Jan Geissler at the EUPATI 2014 Workshop in Warsaw
Good practices in patient involvement in HTAEUPATI
Patients and caregivers have unique knowledge and perspectives about living with an illness that can help inform health technology assessments (HTA). Their involvement is recommended at every stage of the HTA process, from topic selection to disseminating results. However, challenges exist in ensuring patient views are representative and not biased. Different countries in Europe are implementing patient involvement in HTA to varying degrees, with some holding training programs and allowing patient groups to initiate research or contribute to appraisals. Ongoing efforts are needed to strengthen patient involvement through resources, training, and embedding it in all new HTA processes.
Presentation in the framework of the International Conference "10th anniversary of the Spanish Network of Health Technology Assessment Agencies. Towads patient and public engagement in HTA" Zaragoza 27-28 April 2017
Bringing the patient voice into GSK for educational, awareness and patient ce...Nowgen
"Bringing the patient voice into GlaxoSmithKline for educational, awareness and patient centred decisions within medicine development", presented by Kay Warner, Global Manager, Focus on the Patient, GlaxoSmithKline, at the EUPATI-UK Network Conference on 6 March 2014 in Leeds, UK
This document discusses the different roles patients can play in health technology assessment and decision making regarding new treatments. It identifies four types of patient voice: 1) as information providers who can provide key details about diseases and treatments to assessment bodies; 2) as decision makers who should be directly involved in decision making committees; 3) as policy makers who can help shape the processes by which patient voice is incorporated; and 4) as individuals making their own informed choices about treatments. The document argues that all four types of patient voice are important and should be involved in the assessment and decision making process.
Norwegian Romanian (No Ro) Parternership For Progress InMihaiela Fazacas
The document summarizes a project between Norwegian and Romanian organizations to improve quality of life for those with rare diseases in Romania. The project aims to establish a Rare Disease Task Force to evaluate cases and propose actions. It also aims to create new services like a training network for rare disease specialists and accredited online courses. A pilot reference center is planned to provide personalized care for rare disease patients. The overall goal is to improve access to diagnosis, treatment and rehabilitation for rare diseases in Romania.
Similarities and differences between Rare Cancers and Rare Diseasesjangeissler
While rare cancers (RCs) and rare diseases (RDs) face many similar challenges due to their rarity, there are also some key differences:
- RDs impact a larger number of different conditions (around 6000) compared to RCs (198 known types), and RDs are defined by prevalence while RCs by incidence.
- A majority of both RCs and RDs are life-threatening, but RDs more often affect children compared to RCs.
- Both communities struggle with delays in diagnosis, limited research funding, and a need for specialized treatment centers and clinical guidelines. However, RCs can take more advantage of research on common cancers, while RDs are more heterogeneous.
Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France
The BURQOL-RD project aims to develop a model to quantify the socio-economic burden and health-related quality of life of rare disease patients and caregivers in Europe. The 3-year project will measure these impacts for 10 rare diseases across 8 countries. Associated partners will carry out core activities while collaborating partners provide specific contributions. The project will generate standardized tools, conduct a pilot study, and refine the tools for ongoing rare disease assessment and monitoring across Europe.
The document provides recommendations for developing national plans to address rare diseases in European countries. It discusses key priorities that should be covered in national plans, including research, centers of expertise, information and patient services, gathering expert opinions, and empowering patient organizations. It also outlines elements of methodology for developing, managing, and evaluating national plans, such as governance structures, plan content, indicators, and funding. The overall goal is to build an integrated and comprehensive strategy across Europe to address the needs of rare disease patients.
Workshop 2 - Centres of expertise & Networks of experts
"Presentation of the concept, definitions and
terminology"
Samantha Parker, E-IMD, OrphanEurope
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Presentation of the International Federation for Spina
Bifida and Hydrocephalus’ primary prevention study"
Pierre Mertens, International Federation for Spina Bifida and Hydrocephalus (IF)
"The patient experience in the development and implementation of National Plans for Rare Diseases in France"
Christel Nourissier
EURORDIS General Secretary
& Member of the EU Comittee of Experts on Rare Diseases
EUROPLAN advisor
The EUROPLAN project developed recommendations for national rare disease plans and strategies based on EU guidelines. 15 national conferences were held in EU countries to discuss implementing the recommendations. Key topics discussed included establishing centers of expertise, designating them based on common quality standards, ensuring multidisciplinary care and connection to research. Conferences also addressed cross-border healthcare and screening policies.
The EPIRARE project aims to build consensus around registering rare disease patients in Europe. Over 30 months, it will explore establishing a common minimum dataset for rare diseases and develop policy scenarios for an EU-wide rare disease registry. The project involves 10 partners and is coordinated by the Italian Ministry of Health's National Institute of Health. It will examine the legal basis, data quality standards, and sustainability of a future EU rare disease registry platform.
Workshop 3 - Registries
"Outcome of the RD Task Force and EPPOSI Workshop"
on registries, Tsveta Schyns, ENRAH
Eurordis Membership Meeting 2011 Amsterdam
13 – 14 May 2011
Tsveta Schyns
This document discusses a project in Sweden aimed at achieving more equitable healthcare. The project seeks to identify methods for providing equal access to care regardless of socioeconomic status, ethnicity, gender or other factors. It involves testing approaches across 8 primary care units to improve access, health promotion, communication skills, and patient satisfaction. Initial work focuses on walk-in services, needs-based health promotion, and training professionals to be aware of their own norms. Challenges include involving the whole organization, lack of resources, and sustaining changes over time.
Introduction to the breakout sessions & case studies presentationsEUPATI
This document discusses Romania's progress toward establishing a national EUPATI platform. It notes that patients are currently represented in law debates regarding the health system and hospital ethics committees, but not in committees for the Romanian Drug Agency or health technology assessment meetings. It then outlines the initial steps taken to form a national EUPATI liaison team, including identifying trainees, academic representatives, media partners, and representatives from healthcare professional bodies. The document concludes by describing how EUPATI can benefit patients and advocates in Romania by increasing health literacy and facilitating greater participation in clinical trials and health policy decisions.
Patient involvement in medicines development – the views of patients and key ...Nowgen
"EUPATI – EU: An overview", held by Bella Starling & Suzanne Parsons (EUPATI / Nowgen) at the EUPATI-UK Network Conference on 6 March 2014 in Leeds, UK
EUPATI’s framework on Informing the “health-interested” public about medicine...Nowgen
"EUPATI's framework on Informing the “health-interested” public objectively and comprehensively about medicines R&D", presented by Jan Geissler at the EUPATI 2014 Workshop in Warsaw
Good practices in patient involvement in HTAEUPATI
Patients and caregivers have unique knowledge and perspectives about living with an illness that can help inform health technology assessments (HTA). Their involvement is recommended at every stage of the HTA process, from topic selection to disseminating results. However, challenges exist in ensuring patient views are representative and not biased. Different countries in Europe are implementing patient involvement in HTA to varying degrees, with some holding training programs and allowing patient groups to initiate research or contribute to appraisals. Ongoing efforts are needed to strengthen patient involvement through resources, training, and embedding it in all new HTA processes.
Presentation in the framework of the International Conference "10th anniversary of the Spanish Network of Health Technology Assessment Agencies. Towads patient and public engagement in HTA" Zaragoza 27-28 April 2017
Bringing the patient voice into GSK for educational, awareness and patient ce...Nowgen
"Bringing the patient voice into GlaxoSmithKline for educational, awareness and patient centred decisions within medicine development", presented by Kay Warner, Global Manager, Focus on the Patient, GlaxoSmithKline, at the EUPATI-UK Network Conference on 6 March 2014 in Leeds, UK
This document discusses the different roles patients can play in health technology assessment and decision making regarding new treatments. It identifies four types of patient voice: 1) as information providers who can provide key details about diseases and treatments to assessment bodies; 2) as decision makers who should be directly involved in decision making committees; 3) as policy makers who can help shape the processes by which patient voice is incorporated; and 4) as individuals making their own informed choices about treatments. The document argues that all four types of patient voice are important and should be involved in the assessment and decision making process.
Norwegian Romanian (No Ro) Parternership For Progress InMihaiela Fazacas
The document summarizes a project between Norwegian and Romanian organizations to improve quality of life for those with rare diseases in Romania. The project aims to establish a Rare Disease Task Force to evaluate cases and propose actions. It also aims to create new services like a training network for rare disease specialists and accredited online courses. A pilot reference center is planned to provide personalized care for rare disease patients. The overall goal is to improve access to diagnosis, treatment and rehabilitation for rare diseases in Romania.
Similarities and differences between Rare Cancers and Rare Diseasesjangeissler
While rare cancers (RCs) and rare diseases (RDs) face many similar challenges due to their rarity, there are also some key differences:
- RDs impact a larger number of different conditions (around 6000) compared to RCs (198 known types), and RDs are defined by prevalence while RCs by incidence.
- A majority of both RCs and RDs are life-threatening, but RDs more often affect children compared to RCs.
- Both communities struggle with delays in diagnosis, limited research funding, and a need for specialized treatment centers and clinical guidelines. However, RCs can take more advantage of research on common cancers, while RDs are more heterogeneous.
Workshop 4 - Research
"Presentation of the RD Platform fact finding study
on the trends and determinants of rare disease research"
Virginie Hivert, Orphanet, France
The document discusses European Union actions related to newborn screening for rare diseases. It provides background on EU health policy and legislation regarding rare diseases. It then summarizes an evaluation launched in 2009 on newborn screening practices for rare diseases across EU member states. The evaluation includes reports on current practices, an expert opinion on developing EU policies, and establishing an expert network on newborn screening.
Workshop 7 - Brainstorming & Policy Development session: Prevention
"EUROCAT Study on Prevention of Congenital Anomalies"
Dr. Domenica Taruscio, ISS Italy
Workshop 7 - Brainstorming & Policy Development session: Prevention
"Folic acid prevents neural tubes defect"
Mrs Eli Skattebu, Norwegian Association for Spina Bifida and Hydrocephalus (RHF)"
Kim Hannisdal, BayerAB, Sweden
This document summarizes the objectives, methodology, key facts, results, and messages of the EUROPLAN WP8 project, which involved organizing 15 national conferences on rare diseases across Europe. The conferences aimed to promote national plans for rare diseases based on EU guidelines. Over 2,200 stakeholders participated, including patients, healthcare professionals, researchers, and policymakers. The conferences helped raise awareness of rare diseases and validated the EU recommendations at the national level. Discussion focused on improving care, research, coding, and patient empowerment based on each country's system. The project was seen as highly effective in advancing rare disease policy across Europe.
The document provides an overview of Frambu Resource Centre for Rare Disorders in Norway. It describes Frambu's services including in-house family courses, outreach activities, research projects, and information materials. It also lists several rare genetic disorders that Frambu supports. Finally, it summarizes a research project tracking the motor development of preschool children with Prader-Willi syndrome.
This document summarizes the health services available in Póvoa de Lanhoso, Portugal. It outlines the units and services provided at the local health center, including outpatient and urgent care clinics, community care, nursing services, nutrition consultations, and more. It also describes the services available at the Hospital António Lopes, including private consultations, inpatient care, specialty visits, insurance coverage, and clinical/imaging services across various medical specialties. Finally, it provides an overview of long-term maintenance services and health indicators for the region.
This document discusses meningitis sequelae, follow-up care, and challenges in assessing outcomes in low-income countries. Key points include:
1) Meningitis can cause long-term neurodisability in 20% of survivors, including cognitive, sensory, and behavioral impairments. Follow-up care is limited in low-income settings.
2) Evaluating neurodevelopmental outcomes is challenging due to a lack of standardized assessment tools adapted for different cultures and limited rehabilitation services.
3) Joseph's story illustrates the lack of follow-up care available, leading to severe disabilities not addressed for years. Improving recognition, services, and community acceptance is needed.
The document discusses a round table event held by NHS Kidney Care to discuss themes from an ethnographic study on parents' experiences of their child's transition from pediatric to adult healthcare services. Key issues identified included the difficulty parents have letting their child take responsibility for their own care, a lack of continuity between pediatric and adult services, the impact on families, and concerns for the future. Round table attendees, which included parents, healthcare professionals, and voluntary sector representatives, discussed how transition currently involves too short a period and is often unstructured. They agreed transition support needs to start earlier and be provided over two to three years to build relationships and trust between families, pediatric, and adult services.
Risk profiling, multiple long term conditions & complex patients, integrated ...Dr Bruce Pollington
Dr Bruce Pollington web-ex presentation to LTC QIPP programme
Utilising risk profiling, and risk stratification to identify patients with multiple long term conditions requiring complex care through integrated care teams.
Transforming Care: Share and Learn Webinar – 29 March 2018NHS England
Topic One: "The ERIN Initiative"
Guest speakers: Susan Holloway, NHS Chorley & South Ribble CCG and NHS Greater Preston CCG and Sheila Roberts, Lancashire Care NHS Foundation Trust
The aim of "The ERIN (Education, Resources, Interventions and Networking) Initiative" is to provide a local, accessible, responsive, early assessment and intervention service for children aged 0-5 years who may be placed on the pre-school Autism Spectrum Disorder (ASD) pathway.
This webinar reports on the progress made during a pilot which commenced on 1st October 2017 to implement a service which deals with complex/challenging behaviors of children who may or may not go on to have a diagnosis with autism.
Topic Two: An introduction and brief overview of the Source4Networks platform
Session led by Rob Cockburn, Sustainable Improvement Team, NHS England
This topic provides an introduction and brief overview of the Source4Networks platform and its potential to support the Transforming Care Programme.
This document discusses global efforts to address dementia and presents strategies for improving dementia care. It notes that most of the burden of dementia is in low and middle income countries and outlines a public health approach. This includes integrating dementia care into primary care, task-shifting to train non-specialists, and addressing barriers to access. It also reviews evidence for approaches like the WHO ICOPE model and discusses challenges in high-income countries like increasing diagnostic rates and controlling costs while maintaining quality. Overall it advocates for implementing evidence-based packages of dementia care globally using scalable, affordable, home-based models.
The document summarizes the various medical services provided across eight patient care areas at The Scarborough Hospital (TSH) in Toronto, Canada. Key services discussed include emergency and urgent care departments treating over 100,000 people annually; maternal and childcare services including a family-centered birthing unit; one of the largest nephrology programs in North America serving over 6,000 kidney patients; mental health programs providing services in multiple languages; and cancer care including medical oncologists close to home for Scarborough residents.
Anne Webster, -Clinical Lead Winterbourne Projects, NHS England,
Joanne McDonnell - Senior Nurse for Mental Health and Learning Disabilities, NHS England
Neil Hoskin - Expert by Experience, NHS England
Presentation from the Winterbourne Medicines Programme Launch held in London on 10 September 2014
Ensuring safe, appropriate and optimised use of medication for people with learning disabilities who demonstrate behaviour that can challenge
#Caring4NHSPeople virtual wellbeing session 8th December 2021 NHS Horizons
The document discusses a national health and wellbeing event focused on supporting NHS staff experiencing menopause in the workplace. It provides an overview of the event's aims, speakers, and agenda. The event will discuss the national menopause programme at NHS England/NHS Improvement, which aims to develop clinical pathways and education to support menopausal women and address the significant impact menopause can have on the large female NHS workforce.
The Progeria Family Circle is a European organization that supports children with Progeria and their families since 1997. It aims to (1) provide information and support to individual families, (2) facilitate annual meetings between families, and (3) support medical care and research for Progeria.
The Progeria Family Circle is a European organization that supports children with Progeria and their families since 1997. It aims to (1) provide information and support to individual families, (2) facilitate annual meetings between families, and (3) support medical care and research for Progeria.
The Progeria Family Circle is a European organization that supports children with Progeria and their families since 1997. It aims to (1) provide information and support to individual families, (2) bring families together at annual meetings, and (3) support medical care and research for Progeria.
An estimated 2.3 million people live with multiple sclerosis
worldwide. This disease of the central nervous system is
unpredictable and is often first diagnosed between the
ages of 20 and 50, disrupting the lives of otherwise healthy
people. Learn how your Rotary club can work with the
Rotarian Action Group for Multiple Sclerosis Awareness
and local MS societies to fund research and to support
individuals living with the illness.
Similar to Workshop 5 - "The Norwegian Model" (20)
This document provides guidance on starting and maintaining an effective Twitter account for a rare disease. It recommends choosing a memorable username and hashtag, filling out your profile, following related accounts and hashtags, engaging in conversations rather than just sharing links, and using tools like HootSuite to schedule posts and monitor discussions. The key is to start listening, learn from others in your rare disease community, and sustain activity over time through strategic planning and involvement of a team.
During the EURORDIS Membership meeting 2016 in Edinburgh, Scotland the RareConnect team presented progress on the platform along with highlighting how rare disease patient groups can take part in the project.
RareConnect has been collecting the dates of different global and national awareness days for different rare diseases in this blog post: http://blog.rareconnect.org/tip-of-the-week/rare-disease-awareness-days/
Many patient groups ask us how to start an awareness day for their individual disease. This presentations discusses best practices in starting an awareness day for your community. Highlights of what works to bring together your community for a disease awareness day.
Watch the entire webinar that this presentation was part of here: http://blog.rareconnect.org/best-practices/rareconnect-webinar-how-to-start-an-awareness-day-for-your-rare-disease/
The document summarizes the results of a 30 question poll of 66 people about their experiences living with TRAPS syndrome. TRAPS, or TNF Receptor-Associated Periodic Syndrome, is a rare autoinflammatory disease caused by a mutation in the TNFRSF1A gene. The poll asked about demographics, symptoms, treatments, impact on work/school, and other health conditions. Key findings included that the majority of respondents were female, from the US or Europe, and were diagnosed after visiting multiple doctors. Common symptoms included fever, rashes and joint/muscle pain. TRAPS episodes typically lasted 1-3 weeks and greatly impacted respondents' ability to work or attend school.
This presentation was given on July 28th during the Pitt Hopkins UK support group meeting in Manchester, UK.
Join the Pitt Hopkins syndrome community here:
https://www.rareconnect.org/en/community/pitt-hopkins-syndrome/understand
This document discusses how patients, especially those with rare diseases, are using the internet to become more informed and empowered in their healthcare. It finds that 70% of patients with disabilities use the internet, and families of patients with rare diseases most commonly search online for information about disease characteristics, diagnosis, and treatment options. Participating in online support communities and finding medical information online can help patients better understand their disease and discuss treatment options with their doctor. The document advocates for increasing online resources and social networks to better connect patients.
After being launched for 1 year, the RareConnect team updates the EuMGa, the European Myasthenia Gravis Federation on progress made in the MG community.
This document discusses using surveys and polls to gather quantitative data from patients with rare diseases. It describes how online communities can be used for research by enabling patients to share their experiences. It then provides examples of polls conducted with patient groups for Behcet's disease and atypical HUS to understand patients' experiences and how to better serve their needs. Key lessons from conducting these polls are outlined.
RareConnect is a patient-led social network for rare disease patients that connects over 60,000 monthly visitors from 170 countries across 53 disease-specific online communities in 5 languages. It provides support for rare disease patients and caregivers through moderated online communities where patients can share their experiences and find information. RareConnect works with over 400 patient organizations from 40 countries to build these communities and break down barriers between rare disease patients.
Highlights from Rare Disease Day 2011 which took place on Feb 28. An international awareness day coordinated at the international level by EURORDIS (Rare Diseases Europe)
The document summarizes the results of a 2010 survey on patient organizations and their role in and priorities for research. The survey found that:
1) Patient organizations play an important role in research through both financial and non-financial support, though their budgets and abilities vary significantly.
2) While financial support for research comes from 37% of organizations, most provide non-financial assistance like helping connect researchers and patients.
3) Organizations see more advances in basic research and diagnosis but less in areas like human/social sciences and assistive technologies.
4) When prioritizing public research funds, organizations want emphasis on therapeutics, diagnosis and epidemiology/natural history of diseases.
The document summarizes the results of a survey conducted with 309 patient organizations from 29 European countries about their role in research and priorities for the future. It finds that while only 37% of organizations fund research directly, most support research in other ways such as linking patients and researchers, providing trial information, and helping design studies. Organizations see their biggest contributions as creating collaborations between stakeholders and highlighting patient needs. However, they also identified obstacles like limited budgets and a need for more major advances in basic, diagnostic and other research areas.
The document summarizes the results of a survey conducted with 309 patient organizations from 29 European countries about their role in research and priorities for the future. It finds that while 37% of organizations fund research, most provide non-financial support through activities like facilitating collaboration between researchers, patients, and clinicians. The organizations support a wide range of research areas and have played a role in building research communities, though their budgets are limited. Understanding patient organizations' expertise and how they contribute knowledge to health policymaking was a goal of the survey.
This document discusses a membership meeting of EURORDIS about patient experiences in developing and implementing national plans. It summarizes the mission and objectives of Raríssimas, an organization founded in 2002 to help those affected by rare diseases. Key goals included creating a help line, multidisciplinary treatment centers, and Casa dos Marcos, a respite center. It describes Raríssimas' role in advocating for and helping develop Portugal's National Plan for Rare Diseases to take an integrated approach and build partnerships to address rare diseases.
I know that the European Union defines it as less than 5 per 10,000 I have brought with me some information folders translated to English which you can get from me. Rarelink is a link collection for rare diseases. This site is a useful source for highly qualified information aimed at both patients and experts.
Read some of the results from my papers
When it comes to PWS most babies get diagnosed at the hospital very soon after birth. I Norway we also are very lucky because we have a very strong and active PWS Association. The PWS Association and Frambu have close collaboration. The PWS-association is a very good model which some of the other rare diagnostics groups in Norway can learn from. Networking is extremely important for rare diseases.
When it comes to PWS most babies get diagnosed at the hospital very soon after birth. I Norway we also are very lucky because we have a very strong and active PWS Association. The PWS Association and Frambu have close collaboration. The PWS-association is a very good model which some of the other rare diagnostics groups in Norway can learn from. Networking is extremely important for rare diseases.