IPWSO Leadership ECHO® Resources
Materials from IPWSO Leadership ECHO® are available here.
Marguerite Hughes, IPWSO Chief Executive Officer, Ireland
“The role of national PWS Associations in improving the lives of people with PWS and their families “
Presented at the IPWSO Leadership ECHO on October 5, 2021. Marguerite’s talk covered areas including; The roles of PWS associations; Key concepts to consider; Common challenges facing PWS associations. Together we are stronger and finding support from your PWS Association can feel like you’ve found your second family. Some of the challenges that came out in the discussion were how to plan and achieve long term goals, define the needs of the community, and find a shared understanding of priorities. It’s important to consider how you make an organization sustainable over time, and measure its impact.
The PDF of this PowerPoint is available here.
James O’Brien, Chair, PWS Australia Ltd
“Reaching out across Australia: Bringing State associations together with a united vision”
James O’Brien, Chair, PWS Australia, discusses the challenges and motivations that brought State associations across Australia together to investigate amalgamation. James describes how the newly formed PWSA Ltd developed their vision, mission, values, and structure and is now setting about building organisational and individual capacity. Their current and future plans are innovative and ambitious and are underpinned by the UN Convention on the Rights of People with Disabilities. Download a pdf of this presentation
Hana Verichova, Head of Prader-Willi Czech Republic
“Reflections on Prader-Willi Czech Republic”
Hana Verichova, Head of Prader-Willi Czech Republic, reflects on the organisation since its establishment in 2003; a few parents with little experience gave their free time to reach out to others. Hana describes how, by raising public awareness of the syndrome through the media, older people, previously undiagnosed, were identified and consequently supported. The importance of networking, attending conferences, engaging with other bodies such as IPWSO and rare disease organisations, has been invaluable. In January 2021 the organisation opened the first group home for people with PWS in the Czech Republic. Download a pdf of this presentation.
Berit Otterlei, PWS Norway
“PWS Norway – Still going strong after more than 35 years!”
Inspired by her daughter, an adult with PWS who, as a tandem cyclist, recently conquered a mammoth 85km trek, Berit Otterlei advises newly established groups: –
- be goal driven,
- take one step at a time,
- reach out for support,
- do not be overwhelmed by comparing your starting point with that of others, and
- believe that everything is possible!
Berit describes some important factors needed to build a successful PWS organisation. Download a pdf of this presentation.
Anne Sakaris, Tasmania, Australia
Anne Sakaris is a parent of an adult with PWS. Anne lives in Tasmania and has been involved in the establishment of a support network for families of children with PWS for over 10 years; she continues to be a contact point and to provide training sessions in the State.
In this session, Anne demonstrates how the effective management of an emergency starts with how we, as advocates and carers for people with PWS, respond in a challenging situation, and how in order to respond effectively, we need to have a well-resourced, accessible, emergency tool kit close to hand, and built with the involvement of the person with PWS in quiet, reflective times. Using the Emergency Management Cycle model, Anne considers the four key elements of Emergency Management – preparation, response, recovery and mitigation.
Anne references some helpful resources to include in your toolkit:
- IPWSO Medical Alert Booklet which has been translated into many languages.
- Information for families when a person with PWS is in trouble with the law.
This presentation will provide encouragement and hope to all those facing challenging situations as well as essential information for those who mentor others on this journey.
Elizabeth Fistein, Psychiatrist and Clinical Ethicist
“Ethical principles: managing individual choice and the risk of harm when supporting people with PWS”.
Elizabeth Fistein is a Psychiatrist & Clinical Ethicist, medical educator, and researcher, with a particular interest in issues concerning consent to medical treatment and potential justifications for treatment in contexts where consent cannot be given. Elizabeth is a member of the IPWSO Policy Committee and is currently working on a project using ’empirical ethics’ to develop guidelines on the use of potentially restrictive practices to manage risks associated with hyperphagia in PWS.
In this session Elizabeth examines the four principles of bioethics and how they might apply when considering the person with PWS. Elizabeth discusses approaches to autonomy and how this varies over time and across cultures. She then considers various legal frameworks, including the UN Convention on the Rights of Persons with Disabilities, that might assist us in thinking about the inherent tensions and different ways of balancing these principles. A pdf copy of Elizabeth’s presentation can be found here.
Our Challenge, presented by Marguerite Hughes, CEO, IPWSO, highlighted a potential dilemma for a person with PWS and their family and carers, of a desire by the person with PWS to learn to drive. A summary of the discussion can be found here.
Maria Guilia Marini, Healthcare Area, Fondazione, ISTUD, Italy
“Narrative Medicine Research – PRAXIS – Prader-Willi eXcellence in care with Story taking”.
Very many thanks to Maria Giulia Marni and colleagues, whose presentation highlights the need to better understand and respect the various intelligences that are evident in people with PWS. This research, conducted by ISTUD, illustrates how many people living with PWS are progressive, open to positive futures and have aspirations that challenge us to respond in new ways. Maria also considers the role of the carer, the impact of COVID, and medical perspectives. A pdf copy of this presentation can be found here together with the BMJ publication: “Caring and Living with Prader Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research“. This is an open access document.
Chris Smith, Senior Paediatric Dietitian, Royal Alexandra Children’s Hospital, UK
“PWS Dietary Management”
In this session Chris Smith, a paediatric dietitian with over 18-years’ experience in clinical dietetics, presents on PWS dietary management.
Chris emphasises the importance of maximising the benefits of good nutrition and growth and minimising the risks that may be associated with poor nutrition or sub-optimal growth. His passion for his job is clear. Seeing the results of good nutrition in clinical trials, as evidenced by the statistics, gives him great satisfaction and encouragement, however the real joy is in witnessing the development and growth of his patients over weeks, months and years as they benefit from the application of this knowledge and understanding.
Flaminia Macchia, Executive Director and Hlawulani Mkhabela,Outreach and Engagement Manager, Rare Diseases International
“International Advocacy and Global Collaboration for rare diseases”
At this session, Flaminia Macchia, Executive Director and Hlawulani Mkhabela, Outreach and Engagement Manager, discuss RDI’s vision for a world where PLWRD and their families experience a better life through better recognition and support, improved health and social services. Specifically, Flaminia and Hlawulani consider how RDI:
- advocates for rare diseases as an international policy priority,
- represents PLWRD and their families at international institutions and fora, and
- work to enhance the capabilities of members, such as IPWSO, through knowledge exchange, networking, mutual support and joint actions.
Larry Genstil, PhD, Psychologist, Israel
“The child with PWS in the school”
“This talk has to be presented and discussed with every parent, kindergarten school, and caregiver who has a person with PWS in their care”.
High praise indeed from a participant at Larry Genstil’s presentation on “The child with PWS in the school. In this session Larry provides a comprehensive overview of how to create a highly structured and consistent school environment to best fit the needs of the child with PWS.
Read more about the topics Larry addresses and the discussion that followed which provide valuable insights and links to helpful resources.
Elizabeth Dykens, Vanderbilt University, Tennessee
“Food is a poisonous drug” – what young people with PWS think about living with and curing their syndrome.
People with PWS have important perspectives to share about themselves, their syndrome and future treatments. Themes around hunger, food, anxiety, behaviour, new medicines, cures, acceptance of the syndrome, public awareness and advocacy are explored in a qualitative study undertaken by Elisabeth Dykens and colleagues, Elisabeth Roof and Hailee Hunt-Hawkins. The insights offered by people with PWS stand to deepen our understanding of the PWS phenotype and to inform future clinical trials.
Nathalie Kayadjanian, Independent Consultant and Expert in Translational Biomedical Research for Rare Diseases
“Clinical Trials for PWS”
This presentation provides us with an understanding of clinical trials – the terms, concepts and the drug development process. Nathalie focuses on PWS and provides an overview of the active drug trials for hyperphagia and behavioural challenges and considers the HQ-CT as a measure for hyperphagia in PWS. The opportunities, difficulties and lessons learned are explored. Nathalie concludes by highlighting the crucial role that caregivers play in the process, and in ensuring that clinical trials are made possible.
Tony Holland, President, IPWSO
“Fostering links with services in your country and acquiring knowledge to prevent and manage behaviour and psychiatric problems”
Tony asks the question about how we as leaders in PWS in our countries might help develop the services and supports that are needed to prevent, detect, manage and treat people with this syndrome. Some countries have well developed systems, others less so. However, by sharing experiences through the IPWSO ECHO® Leadership Sessions we can all learn from each other and help map a way forward.
Essential components are explored including accessing to knowledge for health professionals, educationalists, parents and the wider community, access to guidance to enable understanding, and access to professional support.
Tony poses some questions that we might ask of our decision makers, such as whether a “Rare Diseases Plan” exists – an expectation of the World Health Organisation for all governments – and, if that plan does exist, does it recognise PWS?
Georgina Loughnan, Prader-Willi syndrome Specialist Clinic, Metabolism and Obesity Services
“Integrated Clinical Care for People with PWS”
Georgina reflects on her 30-year career working with people with PWS and how she and others set about establishing an integrated clinical care facility – the PWS Specialist Clinic, Metabolism and Obesity Services – at the Royal Alfred Hospital, New South Wales, Australia. This is more than just a clinic; it is a centre for developing expertise, research and training, a knowledge hub – providing guidance to other medical specialism on the management and treatment of people with PWS – a provider of holistic care, and moreover, for people with PWS and their families, it is the go-to place in times of difficulty.
“Take me to the Royal Alfred – they understand me!”
Georgina provides us with insight into a model that may work in your country and advocates not to be deterred by a lack of funding or setbacks. Start small, find a willing doctor or clinician and build their expertise, knowledge and service, by encouraging others to use the same professionals.
Lynn Garrick, Programme Director for AME Community Services, Minnesota, USA
“Meaningful Work for people with PWS”
Lynn reflected on her attendance at an IPWSO Conference in Germany and how she and colleagues were inspired to establish the ‘Harmony Farm and Garden’ which provides meaningful work for adults with PWS in Minnesota.
The subsequent discussion and challenges provided some useful insights into other countries and their approach; François Besnier, PWS, emphasises the need for social inclusion in his report.
Susanne Blichfeldt M.D, Denmark
“Supporting Young Children with Prader-Willi syndrome and their Families”
Susanne Blichfeldt, neuropaediatrician and parent of an adult with PWS, focuses on how best to support a child with PWS in the family and wider community. Susanne highlights the importance of effective communication with siblings, grandparents, neighbours, educationalists, clinicians and allied professionals. The “gift of play” is emphasised and the pleasure of watching the child develop, seeing the child happy and healthy in a supportive family environment, and the satisfaction of knowing that carers are doing their best, is all achievable once there is agreement to the strict adherence of ground rules.
The “Challenges” presented by representatives from Spain and Romania reflected the difficulties faced by new parents and families after a diagnosis of PWS and illustrated how, even within countries, equality of access to treatments and social and financial support varies. This is a common experience across countries; participants discussed the need to develop “Best Practice Guidelines” as a starting point in any campaign to influence change.
Professor Nick Finer, UCL
“Virtual clinics in the COVID-19 era and beyond”
In this session Professor Nick Finer explores how technology can be used to good effect in the delivery of healthcare through virtual online clinics and how COVID-19 has accelerated the need for new ways of thinking about practices. This is especially relevant when we consider rare diseases and how we, as leaders in PWS, might harness the opportunities and address the challenges presented in this fast-changing environment for the benefit of people with PWS.
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IPWSO was established so that PWS associations, families, clinicians and caregivers around the world could exchange information and support and have a united global voice under one umbrella.
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The latest medical and scientific research and information, plus guides into common medical issues affecting people with PWS.