Just imagine

Imagine sitting in a hospital consulting room, being told your child has a life-limiting condition, with a life-expectancy of only 30 years old. Imagine the numbness, the feeling of utter grief, loss, devastation.

Imagine being told by your Doctor not to google the name of your child’s condition, Duchenne muscular dystrophy as it will not help. Of course, you then do precisely that. You type in those three words. You are over-whelmed as you dive down an endless online rabbit hole of mis-information, opinions, stories and complicated science jargon.

Imagine doing everything you can to learn about your child’s Duchenne, you spend hours trawling the internet to find answers, you speak to specialists, you read research papers. And still, your questions aren’t answered. Imagine investing all that time and effort, but still not knowing the right thing to do, or the best course of action.

The many unknowns

Imagine being told your child may benefit from the only potential treatment available, Corticosteroids. Imagine reading the side effect risks; difficult behaviour, significant weight gain, weakened bones leading to osteoporosis, delayed puberty, stomach problems, the list goes on. Imagine knowing that a potential trip or fall could cause a break in weakened bones. Imagine having to make a decision for your child to take the Corticosteroids over a period of years, with the fear that a fall and break could mean your child comes off their feet and becomes reliant on a wheelchair full time.

Imagine needing to make a decision about your child joining a clinical trial, which could cause disruption to your family life, take the child out of school, it could require invasive muscle biopsies, and hours in hospital, but the result may mean your child walks for longer, have a better quality of life and ultimately will live longer.

As a Duchenne parent, there are so many unknowns. So many choices to make. You doubt yourself and second guess every decision. It is exhausting and takes you away from focussing on the positives of life and the child themselves.

Changing lives

Our vital project gives the families the information they need immediately.

We are planning a nation-wide roadshow of workshops. Each workshop will focus on a decision that families must make. They do not need to sit for hours on the internet, our expert science communicator and Director of Research will give them the answers there on the spot. We will give them information and guidance based on up to the minute information, in really clear, un-biased terms.

The events will feature hands-on interactive activities, experiments and unique exhibits to demonstrate Duchenne science in a straightforward, simple way.  Families will come away fully equipped with the tools and information to make the best choices they can, quickly and more easily.

This then allows them more time to get busy living, and making the most of their precious child.

Please support this project, you will be helping us make the most incredible impact to these families across the UK.

What is Duchenne Muscular Dystrophy?

Duchenne is a muscle wasting condition. Every muscle in the body wastes away, and people typically need to use a powered wheelchair from their early teens. Since the heart and breathing muscles are affected, most will require a ventilator by their twenties. Life expectancy is around 30 years; there is no cure.

Our Charity

Action Duchenne has a simple vision: a world where lives are no longer limited by Duchenne muscular dystrophy. 

We work to achieve our vision by: 

• funding research to identify and advance potential therapeutic strategies for everybody living with Duchenne, and support clinical trials and the staff and infrastructure required to bring trials to the UK.
• campaigning for the NHS to provide their patients with the earliest possible access to medicines that have been approved for the treatment of Duchenne.
• lobbying Government agencies to improve care and services offered to those affected by Duchenne.
• striving to create an inclusive society where everybody is equal, where disability is accepted and is no longer a barrier in accessing transport and other facilities. 
• building a community for all those affected by Duchenne - to bring people together to share their experiences and to raise the profile of the condition. 

While we hope that research and clinical trials will one day lead to a treatment, or cure, for Duchenne, we believe it is vital to support families living with the condition today. We support families from diagnosis through their whole Duchenne journey. 

More than 50% of Action Duchenne’s staff and trustees have a direct connection to somebody with Duchenne - sons, brothers, grandchildren. This gives us an amazing understanding of this journey from many different viewpoints and helps us to fulfil our aim to reach and support everybody with Duchenne muscular dystrophy in their lives. We can offer families the support they need, when they need it.

What is the problem?

Do you know what Duchenne muscular dystrophy is? Or ‘AAV-vectors’? Do you understand ‘point-mutations’? 

Perhaps not. Although you will understand what ‘life expectancy of 30’ means, or ‘using a wheelchair from your teens’.

Parents of somebody living with Duchenne are in exactly the same position. Duchenne is a rare condition, and most parents have never heard of it before their child is diagnosed. They will understand the severity of their situation but do not have the level of understanding needed to make sense of the scientific information online.

Read an article written by a Duchenne Dad about his diagnosis experience. 

But these parents have to make incredibly important decisions about medical care and it is the scientific information that guides those decisions. Without understanding this scientific information, these decisions are simply impossible to make.

In this project, we want to help families understand the science behind Duchenne.

How will we provide the solution?

We are planning a nation-wide roadshow of workshops. Each workshop will focus on a decision that families must make. We will focus on explaining the research information in an easy to understand way so families can make informed decisions.

The workshops will be led by Action Duchenne’s Head of Research (an expert science communicator) and a member of the support team. Families will learn from our team and share in a uniquely informal and comfortable environment. 

The events will feature hands-on interactive activities, experiments and unique exhibits to demonstrate Duchenne science in a straightforward, simple way. 

What do other people say?

In 2019, we held a pilot series of Science on Tour events. We learned a great deal about how well this event format works and collected lots of incredible feedback from families:

"Plain English throughout. Easy environment to ask any questions without fear of thinking you might sound stupid."

"The highlight was the experiment where we extracted DNA from a strawberry."

" It empowers families to understand the reality behind headlines & gives them the tools & confidence to get to grips with the jargon used."

"Recommended to all families! No previous science/ research knowledge required."

Why is this project important to Duchenne families?

"When you have a child with Duchenne, your journey through life is unique. You carry a huge weight of responsibility, an unrelenting guilt and constant doubt alongside a never-ending feeling of grief. 

“Before my son was diagnosed I hadn’t heard of Duchenne. Now I find myself trying to make incredibly complicated decisions that could have a profound impact on my son's future. 

“The Action Duchenne Science on Tour event was brilliant! It was so engaging, informative, and great fun. As a direct result of hearing the presentations, asking questions, and learning about the science behind Duchenne, I now have the confidence to make decisions with an in-depth understanding of the facts.

“I also met other Duchenne families and heard their invaluable experiences, which was a huge source of comfort and support.

“Please help me by supporting this series of events, so that Action Duchenne can bring vital information and support to Duchenne families like mine." 

Please dig deep and you will be helping support Duchenne families to make the most impossible decisions.

Thank you!