Springing into action

A message from our National Director, Florence Boulton

It was 2 years ago when I first joined my new team around a table in a meeting room in Shoreditch. It was the AGM 2020 and it was my first day at Action Duchenne. I was excited to be taking on the new challenge, and raring to get started! Roll the clock forward two years, and gosh, so much has happened, and we have so much yet to achieve.

I am delighted to be collaborating with community leaders to address the support needs of Duchenne community and addressing the unmet needs through designing programmes and services to maximise resources. I am particularly proud of the strides we have made over the last two years with our ‘All-through Support’, the Conference, science education, and our campaigns for access to Translarna and #weneedanswers. 

If you are new to my blogs, please take a look back over the journey we have been on together over the past two years;

Translarna collaboration

Back in 2016, the Duchenne community worked tirelessly to campaign for access to Translarna, and eventually (after hundreds of hours invested by scores of people) the treatment was approved on a Managed Access Agreement (MAA). Translarna is the only approved treatment for Duchenne muscular dystrophy, and it is designed to target ‘nonsense mutations’ which occur in 10-15% of cases. 

Right now, NICE are reviewing Translarna and will be making a decision about whether to continue to make Translarna available on the NHS through the MAA. This is a crucial stage for the 70 Duchenne families who are currently accessing Translarna. We are working in partnership with Muscular Dystrophy UK, NICE and PTC (the manufacturers of Translarna) on this important campaign to gather vital supporting evidence from Duchenne families. Once we have gathered the information from surveys, video testimonials and nominated patient representatives, we will make a joint submission with MDUK where we will present the information to NICE, to help them make their decision. 

We know how important it is for Duchenne families to have clear and easy to understand information and communication on such complex topics.  We want families to understand what the MAA process looks like, how you can get involved and what happens when NICE makes their decision. We teamed up with the brilliant team at MDUK to host a Q&A with NICE last week, which was deeply valuable for families to hear about timeframes, and how NICE makes their decisions. Earlier this week, on Rare Disease Day, we invited PTC Therapeutics and MDUK to an online event where families had the chance to ask questions and get their voices heard. 

It is vitally important that each Duchenne family who has access to Translarna gives their lived-experience and testimony. I urge you to please take a few minutes to fill in the survey below, or contact us on info@actionduchenne.org if you would prefer to submit your experiences via video or on the telephone.  The more information you can provide, the better our evidence will be to present to NICE. We need to help them make the right decision.

Rare Disease Day 2022

This week, we were proud to raise the profile of Duchenne on Rare Disease Day, by launching the moving and beautifully crafted ‘Riley’s Film’. It tells the story of 7 year old Riley and his family; giving an insight into the daily challenges, highs and lows of living with Duchenne. 

When you watch this film, I hope you will feel moved to take action, and feel inspired and empowered to grasp life. You can make a real difference to families like Riley’s by becoming a Member of Action Duchenne through setting up a monthly donation. Just £10 per month will help us look after a newly diagnosed Duchenne family; providing them with bespoke 1-2-1 support and information, meetings and calls with a Support Officer, and ongoing care throughout their journey. 

For those of you that love a challenge, we have inclusive and engaging events to suit all abilities, locations and interests! Our dedicated Events Officer will look after you from the moment you sign up, giving you training tips, keeping you on track for your fundraising, and helping you engage your supporters. We’ll make it easy and incredibly rewarding for you to help support our work. So please, don’t hesitate, sign up for one of our events today, or get in touch with info@actionduchenne.org if you’d like a place in an event not on our list! 

‘All-through Support’ update

Following my last blog, where I explained about our exciting plans for 2022, and the journey that had led to this much-needed project, I am pleased to share with you our progress. We have selected and set up the delivery steering committee; a team of volunteers, trustees and staff who are taking a key role as the captains of the ‘All-through Support’ project ship. Our team has already started delivering key parts of the project, including; 

• support webinar double-bill this month (we will be welcoming scores of Duchenne families to two evening support sessions with trauma and bereavement expert, Dr David Schonfeld).
• 1-2-1 support calls and meetings with Duchenne families (last year we called or (virtually) met with 1,169 Duchenne families, and this year we plan on smashing this total, so that every Duchenne family in the UK receives support from us).
• carefully ‘match-making’ Duchenne families with others in a similar position. We have achieved a number of ‘matches’, and have seen the power of peer-to-peer support.
• hosting The Friday Hive (we’ve just launched this open, peer-to-peer support group for Duchenne families during term time on Fridays from 10-12 and I’m excited to see it grow over the coming months).
• planning the transition to adulthood project (I’m thrilled to be a part of this important project, and am excited to bring you news about how you can join in!). 
• new team-mates have joined our ranks; Alex (Outreach Officer) and Mehreen (Chief Science Officer) and they are already embedded in the team and have started making an impact on our work.
• Together we are truly stronger. Collaboration is important to us and we are proud to be continuing our efforts on more joined up activities with partner organisations, both from within the Duchenne community and from other specialised areas. 

Thank you for reading, it means a great deal to us all to have your support and I look forward to bringing more updates next month! 

Take care, 

Florence