Our aim is to bring the global Alström community together. Bringing individuals affected by Alström, their families, clinicians and researchers together to work in collaboration so we can learn more about this ultra-rare complex condition.
Collaborating with families, professionals and AS organisations from around the world and growing by the day!
We try to meet virtually via zoom on the last Thursday of every month to chat together and discuss a relevant health and wellbeing topic. You can catch up on any you have missed here, including our top tips from each session.
Please also get in touch with Catherine if you would like to contribute to a session or if you have a topic you would like us to explore, we invite an expert and/or an expert by experience to help answer your questions.
If you would like to be added to our mailing list, please get in touch with Catherine Lewis by email email@example.com
Where a warm welcome awaits!!
Click HERE to read our latest Impact Report ‘The Knowledge Exchange’ 2022 – 2023
World Alström Day
Alström Syndrome: Past, Present and Future
Inaugural Lecture by Dr Richard Paisey
On the 3rd of May 2023, in celebration of World Alström Day and Alström Syndrome UK turning 25!, AS Global provided the world’s first annual lecture all about Alström Syndrome.
This lecture explored the history of Alström Syndrome, what progress has been made over the last 25 years, living your best life with this ultra-rare condition and what the future may hold, highlighting recent and ongoing research into the ‘Alström Eye’.
Dr Richard Paisey one of the first ‘AS Pioneers’ was joined by Lexi Line, Expert by Experience and Jonathan Eintracht, PhD Student Researcher, UCL Institute of Ophthalmology.
Don’t worry if you missed the lecture as you can watch the recordings below:
In true virtual style, with over 100 registrations the Alström community came together; to learn from one another and share their stories at the AS Global Conference. This year it was bigger than ever before with families and professionals from 24 countries joining online.
On Saturday 3rd December 2022, presenters from Germany, Italy, the UK, and America shared their knowledge and experience.
The aim was not only to bring the community together but provide a global insight through presentations from families, researchers, and clinicians from around the world.
We know that having an ultra-rare condition like Alström Syndrome can sometimes be a lonely place; feeling that no one really knows what you are going through. The global conference is an opportunity to talk and learn together. It shows us all the strength and resilience throughout the community and to support each other.
You will find the graphics from the day and in case you missed any sessions, you can download the conference report HERE and watch the films of all presentations below:
Ann Chivers, Executive Director, AS Global welcomed everyone to the conference.
The first sessions of the day, centred around a Dad’s ambition to provide support and research opportunities in Germany. Bernd shared his story of how his son Ben, creates artwork that is inspiring others to follow their dreams.
Prof. Pietro Maffei Consultant Endocrinologist from Padua University in Italy was up next with his popular session ‘Live Life on the Med!’ All about the benefits of following a Mediterranean diet. Pietro shared his top tips of how discovering the delicious food of the Mediterranean can help keep you healthy.
Next, we welcomed Professor Rick Steeds, Consultant Cardiologist and Deputy Director of Clinical Research, Queen Elizabeth Hospital, Birmingham and the Chair of the AS Medical and Scientific Advisory Group. Rick took us on a worldwide tour of the research happening across Europe.
This was followed by Professor Rob Semple, Chair of Translational Molecular Medicine at the Centre of Cardiovascular Science, University of Edinburgh and Eleanor McKay, PhD student in Cardiovascular Science. They gave an overview of their research into the role that unhealthy fat tissue plays in diabetes, heart and liver problems that are often seen in people affected by AS.
Jonathan Eintracht, PhD student from Great Ormond Street Hospital, gave an exciting overview of the development in eye research and how this may benefit people with AS in the future.
The next three talks shared some insights on living with Alström.
First to present was Melissa (ASUK Trustee) and Alisha with their presentation called ‘Don’t wrap me in cotton wool!’ – looking at a young person’s experience of Alström Syndrome. Alisha’s gave some top tips for Moms, Dads, and all…
Then we heard from Dr Richard Paisey who explored the evidence behind why exercise is vitally important to keeping fit and healthy with AS. Richard, was joined by our very own Trevor (Advisor to the Board of ASUK) who shared his experience of using a fitness tracker and how this has motivated him to exercise more.
Next, we heard from Hassan, sharing his story about riding his tandem to trek across Europe. Hassan was joined by his Dad, Kez who shared his insights into how difficult it can be to let go as your child grows into an adult, but how it can be positive for the whole family if this can be done in a supportive way.
We were delighted to welcome Chase Palmer from Alström Syndrome International, Marina Valenti from ASSAI in Italy, Bernd Rosenbichlet from AS Germany, and our very own Kerry Leeson-Beevers from ASUK to share their updates on what is happening in their corner of the world.
Lastly, Ann Chivers (Executive Director, AS Global) thanked all of the presenters and emphasised the commitment of AS Societies and Groups around the world to work and learn together to further research and support services for all those affected by Alström Syndrome.
Kerry and Ann shared the exciting news that ASUK will be having a silver anniversary year. ASUK will be 25 years old next year!! – it is going to be a year of get togethers and celebrations starting with a family gathering in the UK in April.
Thank you to everyone who was involved in this informative and inspiring day!
Don’t worry if you missed the event or would like a re-cap, you can find all the highlights of the day below in films of the day:
Welcome back our colleagues and communities in China
The first film welcomes everyone to the event. The first speaker was Qianwen Zhang and Dr. Xiumin Wang, Chief of Department of Endocrinology, from Shanghai’s Children Medical Centre, discussing the continuing research across China. Exploring the onset of symptoms compared with the rest of the wider population throughout Turkey, America and Poland. She also discussed her research into facial features and whether this could be a diagnostic tool going forward.
Welcome to the world new bambino!
Dr Pietro Maffei Consultant Endocrinologist from Padua University in Italy, was up next with his eagerly anticipated presentation about the first baby born to a couple, where the Mother is affected by Alström Syndrome.
‘AS discovered in small village in Palestine’
Next we welcomed Dr.Reham Khalaf-Nazzal, MD, PhD, Physiology and Medical Genetics from the Faculty of Medicine from Arab American University/Jenin and Dr. Emma Baple, Clinical Senior Lecturer (Genomic Medicine), Consultant in Clinical Genetics from the Royal Devon and Exeter Hospital, England. They discussed the partnership between Exeter Hospital in England and the community work happening across the Palestinian Territories. They have found clusters of families affected by AS in a small village in the Palestinian Territories and they are using the facilities at Exeter Hospital, to implement diagnostic genetic testing.
Do you know your BP from your BMI?
Prof. Barrett explained about how we can monitor our own health at home and what the readings mean for us.
He gave some top tips throughout, about how we can lower our blood pressure, such as reducing our salt, eating lots of fruit and vegetables, avoiding saturated and trans fats and tobacco, reducing our alcohol intake and having regular exercise.
Accepting and Connecting
Marina from Italy shares her own family journey of acceptance and resilience.
The Three Amigos!
Then we heard from Jennifer from America, about her three Amigos—sharing her family story of her three boys being affected by AS.
Lexi our own ASUK Vice Chair was up next. Showcasing how she overcame Covid-19 and became a dressage champion.
Focus on Sight Support
We were delighted to welcome Archana Kulkarni, Consultant Ophthalmologist, Paediatric Ophthalmology and Adult Strabismus from South Warwickshire NHS Trust, Warwick Hospital and Birmingham Women and Children’s Hospital.
Archana discussed sight, support and beyond, looking at the different lenses, tints and support aids which can help people affected by vision loss.
I’ve won the lottery again!
Cathy Chadwick-Rayner from our Breaking Down Barriers project brought us a quick snapshot of scams and how to keep you and our loved ones safe.
Do you know how many people in the world have AS?
Alyssa Mendel, Research Project Manager, from Coordination for Rare Diseases at Sanford (CoRDS) gave us a whistle-stop tour of the Sandford Research Unit and explained all about the AS Patient Registry and why it is important for everyone to be involved.
This film also includes summaries and key points from Robin, Ann and Kerry as the event comes to an end.
On the 4th and 5th December 2020, ASUK were delighted to hold the first ever, virtual Alström Syndrome Global conference.
You can read a summary of both days, including lots of insights and further information in the conference report HERE
In true 2020 style, the Alström global community came together from 23 countries and took a virtual tour of the world, with insights from AS experts and inspiring personal presentations from families.
It was certainly a global affair with presenters from China, France, Scotland, Italy and here in the UK.
Some of the feedback we have received from families about what they enjoyed about the conference:
“Today was great!! Understandable for the parents and patients. If we can’t be in person, this is the next best thing.”
“I enjoyed all of it, something there for everyone. I can really see how the involvement of children, young people and families are helping to shape the charity. Loved hearing from clinicians, researches and workers within ASUK. Some minor problems with technology but this did not impact upon my enjoyment of the presentations. Clinicians sessions were very thought provoking and raised many questions for me. ASUK is really developing as a charity, the CEO presented really well giving a confident performance.”
The programme was full of clinical and research updates from around the world, as well as top tips to stay healthy and personal experiences from families too. You can download the agendahere
The Alstrom Community were delighted to welcome Antonio Ochoa-Ferraro, Specialist Pharmacist from University Hospital Birmingham. Antonio gave an insight into how to review and manage your medications.
Please click on the link below to view the recording of the session:
The Alstrom Global community were delighted to be joined by Clare Kassa, Chief Executive from the charity Sibs who explored how we can support brothers and sisters of those who have complex conditions.
Sibs have kindly brought together some information from the session and their top tips.
Spotlight on Siblings
What is it like being a sibling?
Being a sibling of a brother or sister with a rare condition brings experiences which can be both positive and challenging. Siblings often learn skills and develop abilities from supporting their brother or sister. This means they often show great patience and can be creative and resourceful. However, sometimes siblings might struggle a little too. Siblings at times may feel isolated, worried or lonely.
What can I do as a parent to support my sibling child?
Parents often feel worried and guilty about the impact having a disabled brother or sister might have on their sibling child. It can feel like a struggle to meet the different needs of all of the children in the family. However, there are some simple things which can help.
Spend time each day with siblings one to one
Talk about disability from an early age
Acknowledge negative feelings as well as the positive ones
Teach siblings fun activities they can do with their brother or sister
Give siblings choice about spending time with their brother or sister
Limit the type and amount of care and support that siblings do
Take action on issues that affect your siblings’ wellbeing and education
Talk to siblings in the teenage years about plans for the future
Give siblings permission and encouragement to enjoy and live their own lives
Celebrate siblings’ achievements.
Where can I find information for my sibling child?
Sibs has been supporting siblings for over 20 years and they have learned how important it is for children and young people to have access to good quality information. Young Sibs (www.sibs.org.uk/youngsibs) is their online information service for siblings aged 7-17. There is lots of information about how to cope with sibling life at school, maintaining good mental health and tips about what siblings can do if they are worried about the future. Importantly, there is also information about finding ways to develop positive relationships with their brothers and sisters. Sibs also writes monthly blogs for children on relevant topics such as celebrating family occasions, changing schools or learning about new diagnoses. There is also the opportunity for siblings to write to a sibling advisor with any specific worries or problems, receiving a personalised response from the Sibs Team.
What about adult siblings?
Siblings need support and information throughout their lives. Many adult siblings tell us that their experiences are complex and that their role is rarely acknowledged. Sibs has written an eBook for adult siblings on self-care and a range of guides on dealing with common sibling issues. Siblings juggle multiple responsibilities and can feel isolated. The charities top tips for adult siblings include:
Acknowledge your own feelings as a sibling
Make self-care a priority
Take the opportunity to meet other siblings
What other support is available?
Having opportunities for siblings to meet each other is a source
of support and comfort for siblings. Young siblings may attend local sibling support groups, or support from young carer services and others have the opportunity to meet other siblings through local and national events for families of disabled children. Sibs runs a network of adult sibling support groups. It is crucial for siblings to know they are not alone! Sibs has also developed Sibs Talk, an intervention for primary school aged children. Sibs also works to train professionals wishing to set up sibling support groups for young siblings.
Sibs is the UK charity supporting brothers and sisters of disabled children and adults and provides support to siblings across the lifespan. www.sibs.org.uk
On the 28th April 2022 the AS Global community came together for a virtual, Wellness Club webinar.
This webinar brought together, Dr Richard Paisey, Alström Syndrome clinical expert and Marina Valenti, Mom, and expert by experience from AS Italy Association, who gave their viewpoints about leading a healthy lifestyle to the Alström global community.
You can read the top tips from the session in a word documentHEREor as a PDF file HERE
You can view the recorded session below
You can find further top tips and resources on the Stay Fit, Stay Healthy, Stay Happy page HERE
Following the virtual AS Global conference on the 4th December 2021 we have been working in collaboration with Dr.Reham Khalaf-Nazzal, Physiology and Medical Genetics from the Arab American University/Jenin and Dr.Emma Baple, Clinical Senior Lecturer (Genomic Medicine), Consultant in Clinical Genetics from the Royal Devon and Exeter Hospital, England as they have discovered clusters of families affected by Alström Syndrome in a small village in Palestine.
The AS specialist clinicians from the UK have met with Reham and Emma to discuss ways that they can support from afar with virtual meetings and learning from each other as some of the symptoms associated with AS have been different in those affected in Palestine.
It will be interesting to discover why this is and ways that these teams can support each other going forward.
Reham and Emma, presented about their ongoing work and the families affected in Palestine during the global conference in 2021. A brief summary is below:
You can find the full summary of the AS Global conference in 2021 by clicking HERE