AS Global

World Alström Day 3rd May 2024
Advancements, Knowledge and Experience Lecture

On the 2nd May 2024, in celebration of World Alström Syndrome Day, the global Alström Syndrome community came together for this years annual lecture all about Alström Syndrome.

Prof. Pietro Maffei presented his insights into what we have learned and how, through collaborations and networks, our knowledge and understanding of Alström Syndrome is progressing.

Marina then spoke about her personal experience of education for her daughter and what she wishes she had known when her daughter was at school. She gave us lots of her top tips along the way.

Speakers

Prof. Pietro Maffei Consultant Endocrinologist and AS specialist Padua University, Italy President of ASSAI (Alström Italian Association)

Marina Valenti AS Expert by Experience ASSAI International Relations

Don’t worry if you missed the lecture as you can watch the recording below:

AS Global Conference 2024

Sharing Knowledge, Inspiring Hope 

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 27th January 2024, presenters from Germany, Italy, Hong Kong, 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 watch the films of all presentations below:

Ann Chivers, Executive Director, AS Global welcomed everyone to the conference. This was followed by an informative session with Sadaf Ali, Clinical Fellow in Metabolic Medicine from the UK who discussed how Alström Syndrome affects the liver and semaglutide research.

Next we were joined by Professor Rob Semple, Chair of Translational Molecular Medicine , Centre for Cardiovascular Science, University of Edinburgh, who talked about the Alstrom mouse model and how it can help and hinder research into AS.

He also gave us updates about the research into the role that unhealthy fat tissue plays in the diabetes, heart and liver problems seen in AS.

Professor Pietro Maffei, Alström Expert and Clinician from Italy, gave his top tips to feeling great and the benefits of eating a Mediterranean diet.

Melissa Crowland, ASUK Trustee and qualified social worker and counsellor spoke with us about her road to independence and the importance of looking after your mental health.

Alisha, talks us about her journey to getting a cochlear implant and the difference it has made to her life.

Dr Shyam Madathil talks about getting a good night’s sleep in his session.
He delves into the importance of sleep, common sleep disorders, specific sleep issues in individuals with visual impairment, and strategies for getting a good night’s sleep.

Dr. Shyam C Madathil, MD, FRCP (UK), Somnologist (European Sleep Society) has been a consultant in respiratory and sleep medicine at the University Hospitals Birmingham, UK, for the last 15 years and is a member of the Alström Multi Disciplinary Specialist Team at the Queen Elizabeth Hospital, Birmingham, UK

 

Professor Tim Barrett, Alström Expert and Clinician/Researcher from the UK talks to us about child’s growth: puberty & diabetes. 

 

Updates from around the world

Kerry, CEO of ASUK talks about the developments in the UK

Bernd, Alström Initiative,  talks about developments in Germany 

Chase Palmer, President of Alström Syndrome International talks about developments in America, and is joined by Jamie to discuss the A-Team!

Jack Chu, from the Alström Syndrome Greater China Association, gives us updates from Hong Kong as well as his personal journey to the UK.

Marina and Laura from the AS Italian Association, gave updates about the family activities in Italy including some fabulous photos!

Key Takeaways 

Ann Chivers, AS Global Executive Director, brings together the key takeaways from the day and leaves us with an uplifting message.

The Alstrom Syndrome International Conference will be taking place at the Sheraton Baltimore North Hotel in Towson, MD from the 5th – 9th October 2023.

This will be a great opportunity for families and professionals to meet together and learn from one another.

AS Global hosted a Q&A session with families from across the world, in case you missed the session you can check out the video below:

https://www.canva.com/design/DAFqSOsSWmE/FS0OwIGlCyqFcqnpnq7P9g/watch?utm_content=DAFqSOsSWmE&utm_campaign=designshare&utm_medium=link&utm_source=publishsharelink

You can find out more about the conference via the AS website www.alstrom.org including a link to the discounted rate at the hotel… you only have until the 4th September to secure this reduced rate!

You can also contact Chase or Eric if you have any further questions:

Chase Palmer chase.palmer@alstrom.org

Eric Beresford eric.beresford@alstrom.org

We look forward to seeing you there!

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’.

Speakers

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:

 

 

 

Alström Global Virtual Conference 2022

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!

Roll on the next one!!

 

Alström Global Virtual Conference

Bringing together families and professionals to connect, share and inspire one another from around the world.

It was a truly global affair, with speakers from the UK, Italy, China, America and beyond, joining us to share their knowledge, experience and insights into this ultra-rare complex condition.

From clinical and research updates and inspiring stories from those who have a passion for everything Alström.

You can read our full conference report HERE

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.

Horsing around

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 agenda here

Both days of the conference were recorded:

The Friday sessions can be found HERE

The Saturday sessions can be found HERE

The only areas of the recording which can’t be viewed on this video, is the videos which we played during the event.  You can find these videos below:

The video explaining all about the patient registry and how you can get involved, can be viewed below:

The beautiful piano rendition by Jamie Seeger in America, can be viewed below, it also contains some of your most precious photos.

Kerry gave an insightful presentation about Telemedicine clinics, this video can be viewed below:

Trying to keep our community fit and healthy is one of our goals and you can view the fun-filled ‘Stroove’ exercise video below:

We hope this will be the first global conference of many!

We look forward to seeing you all at the next one!!

All about the heart

In this series of 6 episodes, AS Global Director Ann Chivers and Prof. Rick Steeds talks all about the heart.

Who is Professor Rick Steeds?

• Consultant Cardiologist at University Hospitals in Birmingham.
• Lead Cardiologist specialising in cardiovascular imaging and in the management of cardiovascular complications of rare diseases, including Alström Syndrome.
• Honorary Professor and Deputy Clinical Director at the Institute of Cardiovascular Sciences, University of Birmingham.
• Published more than 200 peer-reviewed research articles, with an h-index of 56, and has lectured nationally and internationally. One of Prof. Steeds most recent research publications in to the heart can be viewed HERE

All about the heart – episode 1 – what the heart actually does.

All about the heart – episode 2 – how Alström Syndrome affects the heart.

All about the heart – episode 3 – key symptoms and the regular tests to keep a check on your heart.

All about the heart – episode 4 – how much exercise is safe to do.

All about the heart – episode 5 – research.

All about the heart – episode 6 – key takeaways and top tips from the 6 sessions.

 

We would love to hear from you, why not get in touch to be added to our mailing list, we can then let you know about news and updates and when the next AS Global webinars are.

Get in touch with Catherine at catherine.lewis@alstrom.org.uk

You can find further research papers HERE

We were delighted to host the ‘all about eyes’ webinar on the 23rd September 2023.

This was lead by one of our Alström experts in eye health, Mrs Archana Kulkarni, Consultant Paediatric Ophthalmologist, Warwick Hospital and Birmingham Women and Children’s Hospital, UK.

Archana explored eye health, sight, aids, and the benefits of tinted glasses as well as answering your questions.

Don’t worry if you missed the session, you can catch up on everything that was discussed in the film below:

 

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:

Design by Catherine Lewis

 

 

 

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.

1. Spend time each day with siblings one to one
2. Talk about disability from an early age
3. Acknowledge negative feelings as well as the positive ones
4. Teach siblings fun activities they can do with their brother or sister
5. Give siblings choice about spending time with their brother or sister
6. Limit the type and amount of care and support that siblings do
7. Take action on issues that affect your siblings’ wellbeing and education
8. Talk to siblings in the teenage years about plans for the future
9. Give siblings permission and encouragement to enjoy and live their own lives
10. 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

You can sign up to their newsletter here.

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 document HERE or 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

On the 24th March 2022 the AS Global community came together for a virtual, Wellness Club webinar.

Melissa, ASUK Trustee gave her experiences of completing the Patient Registry and being able to keep her medical information all in one place.

You can view the recorded session below

 

Melissa gets together virtually with Lexi, who couldn’t make the webinar to give her top tips in the short film below:

 

 

You can find further information and enrol onto the patient registry via the link HERE

If you need any assistance of support to do this, please get in touch with Catherine Lewis catherine.lewis@alstrom.org.uk

On the 24th February 2022 the AS Global community came together for a virtual, Wellness Club webinar.

Lexi, ASUK Chair gave her experiences of living with Diabetes and leading a healthy lifestyle.

You can view the recorded session below

You can also hear Lexi’s top tips to how she manages her diabetes in the short film 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