Alstrom Syndrome UK

Alström Syndrome UK (ASUK) provides support and advice for individuals and families affected by one of the rarest and most complex conditions in the world, Alström Syndrome (AS).

AS is an ultra-rare, genetic condition which can cause progressive blindness, loss of hearing and can affect all the main organs in the body, including the heart, kidneys and liver.

As a patient led organisation, the needs and wishes of people affected by AS are at the heart of everything we do. 

Since the charity formed in 1998, we have worked tirelessly to ensure families who are affected by Alström Syndrome are supported and empowered to live a healthy, active, and fulfilled life. We produce the only medical handbook and family database in the UK, established the world’s first specialised multi-disciplinary clinics where patients can get the specialist help, and support that they need in a ‘top to toe’ examination, and forging research links into one of the rarest diseases in the world. 

Alongside our community of young people we also developed T-KASH (Transition – Knowledge and Skills in Healthcare), which are FREE resources. These resources are designed to support young people, families, and healthcare professionals, to help everyone understand the transition journey and the things that are important to young people as they grow up. 

This animation gives a great insight into why this work is vitally important for young people to thrive and ensure their voice is heard.

We work collaboratively with other charities and organisations to embed T-KASH tools within their own organisations and also use within our NHS multi-disciplinary specialist clinics - we hope this award will spread the word about these vital resources so they are used throughout the UK and ensuring young people thrive.

We also run the Breaking Down Barriers Network, where over 70 organisations work together to improve the lives of families from diverse and marginalised communities, who are affected by genetic conditions so they have equal access to health services.

We strive for every family and individual to thrive, and make the impossible, possible by offering once in a lifetime experiences, that you would think would be possible, such as flying a plane, or driving a car!

One of our families who has recently been diagnosed gives her thoughts on the service she has received at one of our highly specialised clinics, and this reminds us why we do, what we do!

“Wow what a crazy day, we are so lucky to have such amazing support from Alström Syndrome UK. The ASUK team and the lovely nurses and Dr’s at Birmingham Children’s Hospital. As much as a rollercoaster ride it feels for us emotionally and physically, we are so lucky to have such an amazing team behind us supporting us every step of the way. Yesterday we got the chance to meet other families with Alström Syndrome and immediately felt the support and comfort from hearing one another’s stories and similarities to not feel alone on this journey. And to hear such a wonderful voice from one of the children singing to us all ‘it’s the climb’ song by Miley Cyrus almost had me in floods of tears and found inspiring because our children and adults that have Alström are true warriors, keep strong, keep climbing to reach your goals. Together we stand united. ​Thank you so much for all the help you’re all truly amazing”. ​

There is still so much more to do with no treatment or cure available, so your support is vital for our work to continue.

Thank you!