Starting 2023 with hope

Starting 2023 with hope

I want to begin by wishing all of you a very happy new year and sharing the hope that 2023 will be a year of positive change for our community. 

We were so excited to be able to share the news that NICE has published final guidance recommending access to Duchenne muscular dystrophy treatment Translarna. This is the culmination of many years of campaigning alongside MDUK, families, clinicians and other patient groups and represents real hope for our community. Translarna is applicable for those who have a nonsense mutation and is the first treatment designed specifically for the treatment of Duchenne that will be available on the NHS. The Final Evaluation Document is available to read on our website.

It represents the importance of remaining hopeful, of continuing to fight alongside our community and of leaving no stone unturned in realising our vision of a world where lives are no longer limited by Duchenne muscular dystrophy. I am truly positive about the developments in research taking place currently and determined to ensure that we are working to bring these changes to our community as quickly as possible. 

Science Education is back on tour

I am delighted that our science and support teams are back on the road and coming to 30 locations across the UK in 2023. Our small group workshops give you the opportunity to meet others in your area, ask the questions you’ve been wanting to ask and to gain support and understanding for wherever you are in your Duchenne journey. 

Knowledge is power

We believe that knowledge is power and our sessions are designed with this in mind. Our science communication team will help you to have a real understanding of the science of Duchenne, looking at the impact on both the muscles and the brain. They will also be talking you through the basics of a clinical trial, helping you to feel informed and empowered when making the really difficult decisions for your loved one. If you attended a session in 2022, there is plenty of new content and new information to be shared and more knowledge to be gained. Our outreach officer Alex will be on hand to provide support and to ensure that you have access to the services you might need. Myself and my team would love to welcome as many of you as possible to these workshops and we hope that you are able to join us.

End of life and bereavement

As part of our All Through support programme, Action Duchenne wants to ensure that we are providing the right kinds of support for families who are experiencing bereavement. Our survey is now available for you to share your thoughts and tell us what would help you so that we can improve our services. 

As well as the newly designed area on our website which will signpost you to places that you can access more support, myself and my team are always here for you. Please reach out to us and we will do all we can to support you and your family through every part of your Duchenne journey. 

School support

For many parents with children with additional needs, the transition to secondary school is a challenging time. With the deadline for school allocation approaching, our team is here for you and able to support you and your family in this process. We also have a School Support Toolkit on our website which can be shared with your child’s school. There is information on the EHCP process, learning and behaviour as well as how to access support.  Our Science on Tour workshops are also a brilliant way for those working with your child to gain vital understanding about the physical, cognitive and emotional impact of Duchenne. Please do share the event details with your child’s Teacher; TA; SENCo leads and let them know that we are here to support them alongside your family.  

Welcome to Sofiya

I would like to extend a very warm welcome to the newest member of our Action Duchenne family, Sofiya Got. Sofiya joins us as our Science Communications Coordinator and will play an integral role in our Science Education programme. Sofiya comes to us with expertise in medical literature, clinical research, and project management gained in different countries and cultures. Having worked as a dentist while also gaining varied experience in both research, patient care and mentoring medical students, Sofiya is now also a part-time MBA student at Brunel University London with a specialisation in healthcare management. We are excited to have her on board and I know that she is very much looking forward to meeting many of you in the coming months during our Science on Tour workshops. 

And finally, save the dates

And finally, save the dates! Our International Conference 2023 is already in the planning stages and we want to see you all there. After the positive feedback from previous events, there will be a pre-conference virtual event for our Newly Diagnosed families on Saturday 21st October 2023 followed by our main in-person conference on the 10th and 11th of November 2023. Our 2022 event was a wonderful way to bring together Duchenne families, clinicians, therapists, researchers, pharmaceutical companies and, most importantly, those living with Duchenne muscular dystrophy from across the globe and we can’t wait to put on another unmissable event for our community. The videos of many of the sessions from the 2022 conference give you a flavour of the event and are available to access on our website:

I wish you a positive start to 2023 and I look forward to meeting many of you at our events over the coming months. Please remember that myself and my team are here to support you in whatever way we can.