We're all Joining Jacks fight against Duchenne Musculare Dystrophy, are you?

Five years on

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It’s strange to think that five years ago, Andy and I had never heard the words Duchenne Muscular Dystrophy. Joining Jack and Duchenne UK didn’t exist. They didn’t need to in our world.

We were a ‘normal family’, enjoying life and working hard to pay the bills. I almost can’t remember that life now. I am not going to lie, the years of not knowing that Duchenne is robbing our beautiful, fun-loving son Jack of the use of every single muscle in his body were pure bliss. Please believe me when I say there is nothing more I could wish for than for Duchenne not to exist and there to be no need for Joining Jack or Duchenne UK, and that we were still that ‘normal family’.

As with every anniversary of his diagnosis I reflect on our journey. At first, Duchenne consumed us physically and emotionally, we were completely broken. But we were given a choice after Jack’s diagnosis: to accept the disease and what it was going to do to our son, or to fight it. With strength from our friends and family we founded Joining Jack and began our fight.

As our journey has progressed the size of our mission has grown to being so much more than we initially set out to achieve. As part of our fundraising to pave the way for research which will find a treatment for this disease, we have now began focusing on creating and providing the clinical trial infrastructure to make this happen. Part of our new mission is to ensure that all patients with Duchenne, including children and adults, have access to clinical research opportunities. It is a mammoth mission but it is what transformed the survival rates for childhood leukemia.

Patient advocacy has become a huge part of my life and campaigning to ensure patients get fast access to new treatments is at the core of our mission. What is the point of funding research and clinical trials if we cannot get access to the results and treatments fast enough?

What really drives me forward is the acute awareness that time is running out. I am often left fighting back tears as I watch Jack lose the functions I have so loved watching him gain. It pains me to see him look at the stairs like a mountain looms before him. He looks at me helplessly as he holds up his hands like a baby to be carried up – he hasn’t got the strength left in his little legs to get up alone.

What makes it harder is that his four-year-old brother bounds up effortlessly at the side of him. I hate the nights he cries before he goes to sleep because his legs hurt or because he’s frightened of what his future holds. I look for words of comfort and struggle to find them. I fight back tears as I don’t want him to see my fears.

I know the treatments are coming, we are making them happen, they are starting to dangle before us like the proverbial carrot, almost in our grasp but will they come in time?

With time very definitely not on our side, we must campaign to remove the bureaucracy of drug development, approvals and reimbursements that stand before us. The politics, insensitivities and roadblocks we face often consume me and the way forward isn’t always clear but that’s where I am lucky to have people who steer me back on track and focused on our mission.

A mission which this year, has brought about a partnership with Duchenne UK. The collaboration of Joining Jack and the Duchenne Children’s Trust (DCT) came as little surprise to many who know me and DCT founder and fellow Duchenne mum, Emily Crossley. We have become a formidable pairing. Together we are driven, dedicated and devoted to our mission.

Duchenne UK is focused on helping us to deliver our mission. Our impact statement is testament to what we have achieved and how we are already working on our groundbreaking next projects.

Our Impact shows that we have:

  • Spent more than 90p in every £1 raised directly on research grants by being the most efficient, transparent and volunteer-supported organisation working on a cure for Duchenne.

  • Funded 3 clinical trials and 13 research projects.

  • Proved that a new gene therapy approach works in animal models. Our investment of $5m allowed the US biotech running the project to raise a further $42m to fund the Phase I/II.

  • Co-funded a successful Phase I trial for a steroid alternative trial of Vamorolone, previously known as VBP15. As a result of our investment, the company was able to raise a further $12m for the Phase II clinical trial which is starting in the US this month, and in the UK in December.

  • Funded Biomarker research which will help create an outcome measure to help Summit Plc show proof of concept in their Phase OUT DMD clinical trial in the UK and US.

  • Co-funded one clinician to ensure 8 additional trials are now running.

  • Collaborated with UK patient groups to raise £1.2m to fund 16 critically needed clinical posts at leading hospitals in the UK

  • Represented the Duchenne community by speaking at international conferences around the world, workshops and meetings with the FDA, EMA, MHRA, NICE and at the Houses of Parliament. Emily was praised in the House of Commons for her lobbying work.

  • Sped up access to promising drugs through lobbying for changes to the regulatory framework through the Early Access to Medicine’s scheme

  • Alex was honoured to join the steering committee that helped organise a workshop with the EMA on exon skipping. Following the meeting the steering committee published an article in the Lancet. 

  • Made powerful links across the Duchenne Community: parents, scientists, clinicians and Governments to identify and fund the best treatments worldwide for Duchenne through our leadership and sponsorship of Treat NMD, a global network of scientists and clinicians.

  • Alex is also on the board of United Parent Project (UPPMD) and has helped to organise international awareness events like World Duchenne Awareness Day. 

  • Raised the profile of Duchenne in the UK both through media interviews on television, radio and in newspapers: through the help of the rugby world, the JJ Salute and through our campaign to save the World’s Strongest Boys.

     

    Looking ahead our mission continues, we are working towards:

  • Fast-track to treatments

    Testing drugs that are already used for other diseases, and see how they help Duchenne. £200,000 is needed for preclinical work £1.5 is needed for the clinical trial

  • Clinical trials accelerator Creating a network of clinical trials centres in the UK, to co-ordinate, accelerate and increase the amount of clinical trials for Duchenne Muscular Dystrophy. £50,000 has already been won for start-up funding, £700,000 is needed to run the full programme for three years.

     

At times, it is all consuming, finding the balance is painfully hard. Without Jack my life will lose all meaning but what if I can’t save him and I have to live with the fact that I spent so much time away from him because I was so focused on doing just that? It terrifies me.

As impressive as the above list reads I still face the stark reality that there remains no effective treatment for Jack or the vast majority of the Duchenne community.

I want to end by sharing with you a letter Jack wrote to one of his heroes before the rugby league Grand Final earlier this month. It reminds me he is still just a little boy with hopes and dreams like every other little boy who deserves a bright future. We will continue working our hardest to ensure he, and everyone in the Duchenne community, get their wishes granted.

Thank you to everyone who has taken Jack and our charity into their hearts and supported us on every step of this journey,

Alex Johnson

 

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