Exciting announcements

Florence Boulton’s blog – National Director

World Duchenne Awareness day 2022

On the 7th September (7/9 a nod to 79 exons on the dystrophin gene) we are proud to join the World Duchenne Organisation (WDO) and the international Duchenne community on World Duchenne Awareness Day. This year, giving a podium to Women and Duchenne, the theme celebrates and raises awareness of female carriers, manifesting carriers, female carers, girlfriends, wives, sisters and all the women making a difference in the Duchenne community. Having met so many incredible and strong women in the Duchenne community, I wish to give a special mention to; Elizabeth Vroom (President of the WDO), Pat Furlong (President and CEO of PPMD), Alex Johnson and Emily Crossley (joint founders of Duchenne UK), Phillippa Farrant and my incredible team here at Action Duchenne. 

It is a true privilege to be a part of this community, and over the next few months and years, I hope that together we can build stronger connections with other patient organisations, government agencies, NHS and care organisations, academia and biotech companies UK and worldwide, I can see opportunities to increase our influence, enhance our reputation and gain greater recognition for the work we do!

Back to school

With schools in Scotland already some weeks into the new term, this week sees the return to school for the remainder of the UK. There is likely to be the usual mixed feelings for many of you; relief at getting back to a bit of ‘normality’ and routine, but then the struggle of early mornings, homework and getting everything in place at school. When it comes to getting the right help and support for your child or young person at school, we know how varied your experiences can be. We know how much emotional work goes into advocating effectively for your child or young person to achieve their fullest potential at school, and want to let you know that we are here, to support you through that process. 

Further funding for transition to adulthood project

On the topic of great news, I am pleased to let you know that we have been chosen to receive funding from PTC Therapeutics for our ‘Yes I can’ project.  PTC Therapeutics is  a US-based global pharmaceutical company that has been a firm part of the Duchenne community for many years. They have been investigating gene therapy and small molecule potential treatments of rare diseases since 1998.  As long-term supporters of our Action Duchenne Conference, we were delighted to submit our project proposal for their coveted 2022 PTC STRIVE Awards Programme. We are proud to announce that; 

The external panel of judges reviewed submissions from forty (40) international Duchenne muscular dystrophy (DMD) patient advocacy organizations. Four (4) proposals were chosen to each receive a STRIVE award across the various categories. All of the submissions reflected unique and thoughtful solutions to the diverse, unmet needs in the global DMD community.

Lucy Oliveira, Corporate Relations Coordinator, PTC Therapeutics

We are delighted that PTC Therapeutics are supporting this much-needed project for young people and adults living with Duchenne, in the often challenging transition into adulthood. With this additional grant, we will be able to offer more young people and adults skills-based training, social interaction and peer-to-peer support through our residential and online professional- and peer- led workshops.  We will help to create role models living with Duchenne and help others to learn from them and each other.

Ravi Mehta – Project Engagement & Support Officer

A big thank you to PTC Therapeutics for making this possible. 

Pushing forward with research

Action Duchenne has injected £10+ million into Duchenne research, we take pride in our research selection process, ensuring we support and drive impactful and promising research directions. Action Duchenne carefully reviews potential project proposals, paying particular attention to the quality of work and we seek innovative research ideas that utilise our funding effectively. With this in mind, I am happy to share the news of two grants we are giving to support Duchenne research in the UK. These two promising project proposals have undergone our rigorous review process. We will share the research projects Action Duchenne will support this year with the Duchenne community soon/shortly. 

Once we place the contracts for the two promising projects, we will monitor each grant. The Principal Investigators leading both projects are required to submit regular reports or updates around significant project milestones. These will be  assessed and compared to the original project aims. Once a project is complete, we will share the main findings (non-confidential data) with you and encourage the researchers to present at our International Conference and engage with our supporters and delegates.

Overwhelmed with information and ‘things to do’

Through the hundreds of support calls we make to Duchenne families, our Support Officers are hearing from many of you that you are struggling right now. We are hearing of feeling overwhelmed, not only by the day to day demands on Duchenne families, but also the emotional toil of decision-making. At the Science on Tour sessions this summer, we helped many of you to make more informed decisions about important things like clinical trials and steroids. But we are also learning there are many other decisions areas as young people and parents you would like further support and information on. 

Although it can feel daunting and overwhelming to think about coming to a seemingly vast event like our International Conference 2022, it’s actually very different in reality. It’s like one big family coming together. And we all get it. We all understand that it can be emotionally draining, which is why you can join and leave any session at any time. You can retreat to your room (or the cafe/bar) when you need to. None of the sessions are compulsory, everything is available to everyone. The beauty of coming to the Conference is you can put your ‘Duchenne hat’ on for two days, learn everything you need to, immerse yourself in the most relevant topics for you, to help make your daily life better, and then put it to bed. You can leave the Conference armed with new knowledge, and give yourself time to digest the information and put into action your discoveries.  

And of course, there’s the Friday Dinner at the end of the first day of the conference, which is simply the most wonderful opportunity to come together with everyone. 

Please come to relax, socialise and have dinner with us at the Jury’s Inn, Hinckley Island on 11th and 12th of November! Get more details and sign up here.

Look forward to seeing you there!

For those of you returning to the routine of school, good luck for the new term. Take care of yourselves and looking forward to sharing another update with you next month. 

Florence