After the Diagnosis, Relief and Acceptance
Receiving a diagnosis brings with it a whirlwind of emotions; from fear and worry to profound sadness, despair, and grief. The emotional upheaval can make it difficult to think straight. It can catapult you into survival mode, where the unknown and future are terrifying.
The invisible load of parenting a child with a disability and complex medical needs can be exhausting, isolating, and daunting. Not having answers to the basic question of ‘What?’ makes it difficult in many areas, such as planning for future needs and researching treatment or therapies.
Having a diagnosis can bring relief. Being able to put a name on the multitude of symptoms your child has lived with since birth brings relief. Having a diagnosis allows you to find answers to the questions which were previously unanswerable; What caused this? Did I do something wrong? Know that you did nothing wrong. There is nothing a mother or father could have done, or not done, during pregnancy to have caused PWS.
There should no longer be a need to give lengthy explanations at medical appointments, saying the words ‘Prader-Willi syndrome’ will give you a starting point. It will allow you to be specific about your child and their symptoms. Although you have the diagnosis it will also demand that you are patient with doctors and nurses, social workers, that have not heard about PWS, as it is a rare disease. Most will listen and be interested in a careful explanation. Having a diagnosis allows you to be informed, to be your child’s expert, to have confidence in what you are doing. Always bring written material, to help these doctors understand the diagnosis. There is lots of suitable material available for doctors here on our website.
Trying to access services and filling in forms are all made easier with a diagnosis. It can open up access to services and support at a local level.
Having a diagnosis gives control. You are now armed with the knowledge that will allow you to research treatments and therapies, and find experts and support groups specific to the condition. You can educate yourself, your family, and friends on this syndrome. You can create a support circle. You will realise you are not alone. You will have the option to connect with other people and families who are on a similar path or to connect with PWS specific Associations and Organisations. Relief can be found in the realisation that there is a global community of people, experts working to find a cure to some of the more difficult symptoms of this condition.
Acceptance allows you to move forward. To look to the future and plan how best to navigate it. Accepting a diagnosis can allow you to reclaim control. To be brave enough to ask for help from those that were close.
It can allow you to see and be grateful for the small steps forward that you, your family, and child will have made. No matter where you are in your journey, there are steps you can take to help you reach acceptance a little earlier and perhaps a little less bruised.
Below are five things to implement that can help you arrive at acceptance and relief:
- Talk – Seeking professional counselling services may help you process the trauma of receiving a diagnosis and its impact on your life. Acceptance can only come once it has been processed.
- Stay connected or reconnect with family and friends, to PWS Associations and other parents of children with PWS. Receiving a diagnosis can be isolating. You may feel you have lost connection with family and friends, as they lack an understanding of what you are going through. Connecting with people who understand because they are living it can help.
- Routine – can seem impossible, particularly in the early days, but it’s important to feel you have control, and routine can help achieve this. Start by setting a time where therapy ends for the day, schedule one day per week where you don’t book appointments and allow yourself time to just be a parent.
- Move – its easy to forget to look after yourself. Get active, 30 minutes walking per day will do wonders for the body and mind.
- Breathe – simple but effective. Sit in a chair (or outside in nature), with your feet on the ground, and take 60 mindful slow deep breaths, make the exhale longer than the inhale. If 60 breaths seem too much for you right now, start with 10. What’s important is that you start!
A parent writes:
Our planned daughter was born in 1989. Until we received the diagnosis seven long years of uncertainty determined our daily life. When she was three months old a false diagnosis (spinal cord tumour) obliged us to stay in the hospital for paediatric neurosurgery, with the result that we went home with no answers. Our paediatrician then gave us the advice just to enjoy her early childhood and to go along with the necessary therapies (Vojta therapy, sensorimotor therapy, Feldenkrais method, etc, etc.) When she was three years old she made her first steps… At this time there was just a little knowledge of Prader-Willi syndrome. Finally, the suspicion was confirmed and we had a plan: to look for knowledge and to be more prepared to accept and manage this rare diagnosis. In 1998, with the help of engaged doctors and parents, we founded the PWS Austria Association. The diagnosis of PWS is shocking – but gives you many ways to manage it and achieve the best potential for your child.
A parent writes:
My daughter was born in 1978. I was told she may have Down Syndrome or a muscle-wasting disease, but when tests came back negative, I was sent home with almost no help and told to try to feed my daughter using a bottle (not easy in those days – we ended up feeding her from a spoon). Her official diagnosis at the time was “failure to thrive and developmental delay”. I was told she might catch up. When she began to put on weight for no real reason when she was nearly five years old, a paediatrician finally made the diagnosis – my daughter was only the second child he had seen with the syndrome. The PWSA UK had just started up and I immediately joined. The information I got back was from the USA and I was truly shocked by the prognosis – how could my angelic child turn into such a challenging person when they grew up? I determined that this would not happen and am happy to say that, though there have been a few bumps in the road, my 44 year old daughter is now very happy and settled and is a joy to be with.
Receiving a diagnosis of any disorder, syndrome or condition for your newly born child is a shock and challenge for any parent, especially when the diagnosis is of a rare disease and involves many complications. Today, in the world of PWS we are fortunate to know so much more than 50, even 20 years ago. Treatments and lifestyle support strategies to assist the child’s development are available and research continues.
This article was written by IPWSO’s Famcare Board.
2023
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Sharing international knowledge among professional service providers throughout the world.
Paediatric Association of Nigeria - 57th Annual Scientific Conference
IPWSO was proud to support a dedicated PWS symposium at the 57th Annual Scientific Conference of the Paediatric Association of Nigeria (PAN) Conference held 21-23 January 2026 in Ogun State.
Famcare Board Member, Dr Elizabeth Oyenusi, presented on the clinical features, diagnosis, and management of PWS, while Dr Oluwakemi Ashubu shared the first genetically confirmed case of PWS in the country - an important milestone. The session attracted over 104 delegates and sparked a lively discussion.
IPWSO also hosted an exhbition table throughout the 3-day conference, distributing educational materials and engaging directly with healthcare professionals.
We are hugely grateful to Dr Oyenusi, Dr Ashubu and Dr Oladipo (Senior Registrar) for their support in making this educational oureach possible - helping to strengthen awareness and improve early diagnosis of PWS in Nigeria. Funding for this event was kindly provided by Friends of IPWSO (USA).
Global Newborn Society Inaugural Conference, Sweden
The Global Newborn Society’s 1st Conference took place in Uppsala and Stockholm, Sweden, from 2-4 November 2025, marking an exciting milestone for the organisation’s international community.
We were delighted that Dr Susanne Blichfeldt was invited to deliver a plenary lecture on behalf of IPWSO, titled “Neonatal Hypotonia: Clinical Features Seen in PWS That Can Help Differentiate It from Other Congenital Disorders with Similar Symptoms.”
The inaugural event brought together a diverse audience of physicians, nurses, and social care leaders from around the world. The programme was wide-ranging and stimulating, featuring cutting-edge discussions on newborn health, early diagnosis, and innovative care practices - setting a strong foundation for future collaboration within this growing global network.
ASPED 2025, Dubai, UAE
The 6th conference of the Arab Society for Paediatric Endocrinology and Diabetes was held in Dubai over two days on the 26th and 27th September 2025. IPWSO was invited to be a partner and to present at a session on PWS. The conference was attended by over 400 paediatric endocrinologists from more than 20 countries in the Middle East and North Africa. Charlotte Hoybye and Tony Holland attended and presented on behalf of IPWSO and Dr Sarah Ehtisham described her experience seeing patients with PWS in the United Arab Emirates. IPWSO hosted a stand for the whole conference.
In conversation many attendees reported seeing people with PWS and described the challenges they faced, particularly with the management of behaviour problems. Some felt nervous about starting growth hormone as they had had no experience prescribing it to infants with PWS.
Approximately 100 attendees joined the IPWSO mailing list and attendees were very keen to gain knowledge about PWS. Numerous memory sticks with information on PWS and printed material in English and Arabic were taken. Some attendees talked about establishing national or regional PWS Associations.
This was an extremely positive experience and hopefully attending this meeting has laid the groundwork for IPWSO to engage more fully in the Region in the future. We were very well looked after, and the organisers were excellent hosts.
EPNS 2025, Munich, Germany
Together with parents and representatives from the Prader-Willi-Syndrom Vereinigung Deutschland, we were proud to host a PWS exhibition stand at the 16th Congress of the European Paediatric Neurology Society, held in Munich from 8-14 July 2025. The event welcomed over 2,000 medical professionals from around the world.
We had the pleasure of engaging with attendees from Türkiye, Iraq, Palestine, Croatia, Moldova, the Philippines, Ukraine, North Macedonia, Kazakhstan, Armenia, and many local specialists.
Dr. Stefani Didt, Gesellschafter at Katholische Jugendfürsorge der Diözese Augsburg, kindly supported us at the stand and provided expert responses to clinical enquiries. We hope these international connections will contribute to raising awareness about IPWSO’s work, particularly in improving access to genetic testing in underserved regions.
We also highlighted the new treatment for hyperphagia and shared our recent publication, "Improving Mental Health and Well-being for People with PWS."
Sincere thanks to our colleagues from PWS Vereinigung Deutschland and to Dr. Didt for their invaluable support.
ESPE-ESE 2025, Copenhagen, Denmark
IPWSO was honoured to participate in the recent Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE), held in Copenhagen from 10–13 May 2025. This important event provided an invaluable opportunity to raise awareness of Prader-Willi syndrome (PWS) among a broad international medical audience.
IPWSO was represented by our CEO, Margaret Walker, along with Dr Charlotte Höybye from Sweden and Dr. Susanne Blichfeldt from Denmark—both esteemed members of IPWSO’s Clinical and Scientific Advisory Board.
Dr Blichfeldt noted that this congress is a major event in the clinical academic calendar and has a particular significance as it marks the first-ever joint meeting of these two prominent societies. Despite its European designation, the congress attracted participants from around the globe, including delegates from the Middle East, Africa, the United States, Japan, Australia, and New Zealand.
IPWSO’s educational booth was strategically positioned within the Patient Advisory Group area dedicated to rare disease organisations. As part of the programme, we were invited to deliver a 30-minute presentation during the Patient Voices Session. Dr Charlotte Höybye and Dr Susanne Blichfeldt presented on Prader-Willi syndrome (PWS), with a focus on genetics, endocrinology, and clinical manifestations. Our presentation, along with many others, was recorded and is now available on demand via the ESPE-ESE congress platform.
PWS was prominently featured throughout the congress. In a session on the transition of care for patients with rare diseases, Dr. Maithé Tauber (Toulouse, France) discussed the specific challenges associated with the transition period in PWS. She emphasized the need for multidisciplinary care and ongoing specialist follow-up in adulthood through dedicated PWS clinics.
Another session addressed medical and clinical management in both children and adults with PWS, again highlighting the critical importance of a smooth transition from paediatric to adult care and the role of specialised clinics. The session included an in-depth discussion on hyperphagia in PWS, exploring its profound impact on individuals and their families. Management strategies were reviewed, and a new medication, Vykat, was presented as a potential treatment for hyperphagia.
In addition, there was a strong presence of scientific posters on PWS from various countries, covering a wide range of topics such as hormonal therapies, genetic findings, ageing, and guidance for families. A total of 33 posters focused on PWS, reflecting a growing global interest and commitment to advancing knowledge and care in this area.
We were greatly encouraged by the high level of engagement and the visibility given to PWS throughout the congress. This increased awareness brings hope that more children will be diagnosed earlier and receive appropriate, specialised medical care from childhood through to adulthood.
ASPAE 2025, Abidjan, Côte d’Ivoire
After Yaounde (Cameroon 2023) and Alger (Algeria 2024), IPWSO was pleased to be present at the 16th Annual Congress of the African Society of Paediatric and Adolescent Endocrinology (ASPAE), at the invitation of Dr Kouamé Hervé Miconda, Programme Co-organiser. Prior to the main conference, IPWSO, in partnership with Dr Micondo, organised a dedicated PWS workshop which attracted 60 professionals - paediatricians, endocrinologists, doctors, students, nurses, and midwives.
MENA 2025 Abu Dhabi, UAE
The Middle East and North African (MENA) conference for Rare Diseases was held in Abu Dhabi, United Arab Emirates, between 17th and 20th April 2025. Tony Holland represented IPWSO at this meeting and presented a poster about our work. The conference was attended by clinicians, genetic councillors, scientists, and other health disciplines from across North Africa and the Middle East. The conference was in English as many clinicians in this part of the world are from elsewhere and not Arabic speakers. The conference was of a very high standard and ranged broadly across many rare genetically determined conditions as well as there also being discussions about how to develop services and how to seek approval for new treatments. Our poster was one of five that was selected as the best posters exhibited at the meeting. Tony said, "My experience of the conference was very positive and I am sure there are opportunities that can be built on. Being part of the endocrinology meeting, which is likely to be attended by endocrinologists from across the whole region, provides a wonderful opportunity to engage more fully with clinicians most likely to see people with PWS".
Kenya Paediatric Association Annual Scientific Conference, Monbassa, Kenya
Dr Menbere Kahssay and Dr Renson Mukhwana, Aga Khan University Hospital, Nairobi represented the Kenyan team and, together with Drs Constanze Laemmer and Dr Charlotte Höybye, managed the IPWSO educational booth at our first meeting in this region.
A dedicated session on PWS significantly raised awareness and knowledge about the syndrome among paediatricians and allied health professionals.
Dr Kahssay said, "We were able to have track and plenary session and four days interaction with the participants at the booth.
The PWS session focused on case experiences and regional differences in PWS management. Thanks to IPWSO’s support, Drs Charlotte Hoybye and Constanze Lammer joined as expert speakers, sharing their valuable experiences in managing PWS across the neonatal, childhood, and adult stages".
Dr Menbere Kahssay and Dr Renson Mukhwana presented genetically confirmed local cases, highlighting diagnostic challenges and treatment approaches.
Third Biennial Rare Diseases Conference, Rare X, Johannesburg, South Africa
Karin Clarke and Molelekeng Sethuntsa organised the IPWSO exhibition table at this event in Johannesburg from 14-17 February 2024. Molelekeng attended the conference and reported on the excellent discussions that focused on the challenges of early diagnosis, especially in Africa, centres of excellence, and ways that the Department of Health, WHO and RDI can improve detection and treatment of rare diseases.
6th RARE Summit 2023, Cambridge, UK
Tony Holland, President, and Agnes Hoctor, Communications and Membership Manager, represented IPWSO at the 6th RARE Summit organised by Cambridge Rare Disease Network on 12 October, 2023.
MetaECHO® 2023, Global Conference, Albuquerque, New Mexico
The 5th MetaECHO® Global Conference took place from September 18-21 in Albuquerque, New Mexico. It celebrated 20 years of ECHO programmes and brought together ECHO leaders, partner teams, government officials, funders, policy makers, and industry experts to share retrospective work and thoughts on the future of ECHO. Our President, Tony Holland, presented a paper on “A Global ECHO Programme for the Rare Disorder – PWS", based on IPWSO’s Project ECHO programme.
EPNS 2023, Prague, Czech Republic
The 15th European Paediatric Neurology Society Congress (EPNS) took place from 20-24 June. Tünde Liplin, PWS Hungary, and Hana Verichová, PWS Czechia, represented IPWSO. Twenty-two people from countries including Georgia, Israel, Lithuania, Turkey, Italy, Slovakia, Romania, Netherlands, Bosnia Herzegovina, Belgium, Argentina, Norway, Serbia, India, and Australia subscribed to the "Stay in touch with IPWSO!" contact list. Tünde reported that many people came to the stand just to inquire and chat, the majority of whom were hearing about IPWSO and our work for the first time.
ECE 2023, Istanbul, Turkey
The European Congress of Endocrinology (ECE) took place from 13-16 May. We hosted an information table and were represented by IPWSO advisers, Constanze Lämmer and Charlotte Höybye, and also our Communications and Membership Manager, Agnes Hoctor. We were pleased to be given the opportunity to present on IPWSO and PWS at the Hub Session. The most exciting and important element for us was that the Turkish location meant that delegates came from many countries in Middle East as well as Europe.
ASPAE 2023, Yaoundé, Cameroon
We hosted an educational booth and presented at the round table on Obesity at this important Endocrinology conference hosted by the African Society of Paediatric and Adolescent Endocrinology (ASPAE) from 9-10 February. Read our blog about our visit.
ECE 2021, Online
We hosted an educational booth and gave a presentation at the European Congress of Endocrinology in May 2021.
ESPE 2019, Vienna, Austria
We exhibited at the European Society of Paediatric Endocrinology (ESPE) Conference in Vienna, Austria, which took place in September 2019. Find out more in our blog.
ECE 2019, Lyon, France
We exhibited at the European Congress of Endocrinology in May 2019.
Dr Ashubu discussing IPWSO's educational materials with delegates at our booth.
IPWSO was honoured to be invited to present at the Global Newborn Society's Inaugural Conference.
Dr Sarah Ehtisham presenting at ASPED 2025 followed by a panel discussion.
Colleagues from PWS Vereinigung Deutschland help manage our PWS stand at EPNS 2025. Many thanks to all the parents and carers for their invaluable support!
Dr Charlotte Höybye (Sweden) and Dr. Susanne Blichfeldt (Denmark) presenting at the ESPE-ESE Patient Voices Session - May 2025
Dr Blichfeldt and Margaret Walker (CEO) managing our IPWSO educational booth.
François Besnier, IPWSO's Vice President, meeting some of our travel fellowship delegates at ASPAE 2025.
IPWSO's poster achieves top award!
Many thanks to Drs Constanze Laemmer, Menbere Kahssay, Charlotte Höybye and Renson Mukwana for all their support at KPA 2025.