Patient care & support

Parent Information Day 2023

We were delighted to welcome dozens of families to our latest Parents Information Day in London this weekend. We are so grateful for all those who came. People came from across the country – one Duchenne researcher came from Boston in the United States! There were presentations from a range of specialists – and the SMART Suit, recently seen on TV, was also on display. Ioan Tereco and Saul Catlin were both able to give it a go. Please sign up to the Gene Therapy Patience Preference Survey: https://qualtrics.ca1.qualtrics.com/jfe/form/SV_eG8HH0ItV9CdNEG Please sign up to our newsletters if you haven’t already: https://www.duchenneuk.org/newsletter/ We really want feedback on the day itself. Get in touch via our website: https://www.duchenneuk.org/contact/ And please join our fight if you can by fundraising for Duchenne UK. There are so many ways you can help from cycling to Paris in 24 hours – to simply spending some time under a Duvet as part of our Duvet Days campaign. Find out more about how to support us via website: https://www.duchenneuk.org/support-us/ Much of the focus on the day was on DMD Care UK – our initiative to ensure the best possible care for our community across the country. We have our own website - https://dmdcareuk.org Finally below is Emily’s speech from the beginning of the day. It outlines what we have achieved together over the last ten years. We truly believe we can end Duchenne. "Welcome to the Duchenne UK Parents Information Day. We are thrilled to see so many of you  – even though Alex and I know how much you wish you’d never heard of Duchenne. Duchenne UK is now 10 years old – older than many of your children. But despite our youth, we are punching way beyond our years. When Eli and Jack were diagnosed, the horror was compounded by a total absence of hope. Every consultant told us there was no research being done – or to be done. One organisation told me research proceeds at a “glacial” pace as I looked at my three year old son whose muscles were already beginning to weaken. Alex found her doctors almost had nothing to say, leaving her to conclude they didn’t actually know much about it. Eventually, I stumbled across the name Kay Davies – and met her when she showed me a video of a mouse with Duchenne running freely on a wheel. She told me research was happening; the gene had been identified and breakthroughs would come. That’s when my journey began. And then I met Alex – at an event a bit like this. We hugged, cried and connected. We had finally met someone ready to fight. The information we were given then was wrong. And it would be beyond wrong now. Alex and I can’t stand before you and tell you it is all going to be ok. You and your sons face enormous challenges. But the landscape has changed beyond recognition. We were told gene therapy would never happen in our lifetime. But a drug company is now in negotiations with US watchdogs about bringing gene therapy to market. Charlie Anderson has been dosed with the drug at Newcastle as part of a trial. He was recruited through a database set up by Duchenne UK. Twenty years ago, steroids were not routinely prescribed. Now they are keeping boys walking and living for much longer. And a steroid alternative – Vamorolone – which we invested in and offers fewer side effects – has this week been submitted to the UK health watchdog for market authorisation. The company behind it, Santhera are also applying for the drug to be accepted under the Early Access to Medicines Scheme, a pathway that Duchenne UK lobbied for.  When Eli and Jack were diagnosed, trials were being turned away from this country because we didn’t have the capacity to administer them. Duchenne UK invested in the DMD Hub – creating a network of trial sites across the country. Now if there’s a trial going – it will come here – offering the chance for your children to potentially benefit.   One of those trials was for a drug called Givonstat. The data so far is very promising. Jack was on the trial – in November last year he was able to proudly march behind Owen Farrell as the England captain earned his 100th cap against the All Blacks at Twickenham.  We also discovered many boys were being treated properly by the NHS. Heart medications were prescribed too late – or even never. Boys in A&E weren’t given a stress dosing of steroids to counter adrenal insufficiency – with potentially fatal consequences. We set up DMD Care UK to ensure best practice is implemented across the NHS so our boys stay healthy and strong as new treatments arrive. We want to provide the best care across the piece for our community – for example, mental health support is now potentially available through DMD Care UK. There is nothing worse than discovering there is a treatment available – but no one will pay for it. The path to persuading the NHS to pay for a drug is an agonising one. That’s why we set up the award-winning Project Hercules – it’s brought drug companies, patients and regulators together to ensure a smoother pathway to drug reimbursement. We have every step of the way from the lab to the clinic covered. And we’ve opened a new front – technology. Beating Duchenne is not just about finding medical treatments – it’s about innovating in every area of society. This week my son Eli showed off the SMART Suit for TV viewers across the UK – I was just a little proud. The SMART Suit is a proof-of-concept prototype for a wearable device that helps those with Duchenne keep the use of their arms. We hope to bring it to market in the coming years. We are also designing a new wheelchair that teenagers want to have, rather than have to have. There is nothing we won’t do to end Duchenne – and you have been with us all the way. Nothing of what I have just outlined could have been achieved without this community, your incredible fundraising, and your unwavering support. We are an army on the march. Eli told BBC Breakfast his ambition was to play at Glastonbury. He knows that he can still dream big despite having Duchenne. Your children can do that as well. They can go to university, have jobs, get married. I wish I’d never heard of Duchenne. But I also think we can beat it, and that my son is living his best life. Thanks so much for coming. " We host Parent Information Days annually, so if you were unable to make this years, then please consider joining us in future.

Published on 6 March 2023

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