'˜We were given a choice: accept the disease or fight it'

Five years after her son was diagnosed with Duchenne muscular dystrophy, Alex Johnson writes about her love for eight-year-old Jack and the battle to find a cure.

Thursday, 27th October 2016, 4:07 pm
Updated Thursday, 27th October 2016, 5:13 pm
Andy Johnson with son Jack and wife Alex

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. 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”.

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.

Sign up to our daily newsletter

The i newsletter cut through the noise

The size of our mission has grown to being so much more than we initially set out to achieve. As part of our fund-raising to pave the way for research which will find a treatment for this disease, we began focusing on creating the clinical trial infrastructure. Part of our mission is to ensure that patients have access to clinical research opportunities. It is a mammoth mission but it is what transformed the survival rates for childhood leukaemia.

What really drives me 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 – 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? 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 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.

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 three clinical trials and 13 research projects.

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

Co-funded a successful phase I trial for a steroid alternative trial of Vamorolone. The company was able to raise a further $12m for the phase II clinical trial.

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.

Co-funded one clinician to ensure eight additional trials are running.

Collaborated with UK patient groups to raise £1.2m to fund 16 clinical posts at hospitals.

Represented the Duchenne community by speaking at international conferences, workshops and meetings and at the Houses of Parliament.

Sped up access to promising drugs through lobbying for changes to the regulatory framework.

I was honoured to join the steering committee that helped organise a workshop with the EMA on exon skipping.

Made links across the Duchenne community 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.

I am on the board of United Parent Project and helped to organise international awareness events like World Duchenne Awareness Day.

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

Looking ahead our mission continues, we are working towards:

Fast-track to treatments

Testing drugs used for other diseases to see how they help Duchenne.

Clinical trials accelerator creating a network of clinical trials centres in the UK. £50,000 has been won for start-up funding, £700,000 is needed to run the 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. 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 share with you a letter Jack wrote to one of his heroes before the rugby league grand final. letter to Josh Charnley and his team, mates, Jack wishes them well for the match against Warrington and tells his famous pal “I love you the way you are because you are very kind and caring.”

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.