I first encountered AD when our lovely little nephew, Samson, was diagnosed with the condition a few years ago. Before that, I had no real understanding of the DMD or the various different strains of muscular dystrophy. Since then, our whole family has worked hard to inform ourselves in order to better understand the implications of the diagnosis and the potential treatments but also how to support Samson to lead as active and fulfilled life as possible. This is key for us. As MD is a progressive disease, as far as Samson and his siblings are concerned, it’s pretty much business-as-usual.

How have Action Duchenne helped you?

The Duchenne diagnosis came as a complete shock to the whole family so we immediately started researching the condition and came across the Action Duchenne website and associated resources which were invaluable in helping us educate ourselves about Duchenne.

Importantly on the Action Duchenne website, there were many positive stories and support for families which helped us navigate our way through the initial shock and negativity of the diagnosis and arm ourselves with information in the fight against the disease. 

Have you got involved in fundraising for Action Duchenne?

Since the diagnosis we have participated in the first Parallel London event as a family, which was brilliant fun. Our kids, who were 3 and 5 at the time, completed the 5k course and we raised over £700 as well as having an utterly brilliant day.

Arcellor Mittal Orbit abseil 

Since then, I have abseiled down the Arcellor Mittal Orbit in London with Samson’s dad, Lex, and the rest of the Action Duchenne team. Although it was terrifying, the team spirit was amazing and again, we had tremendous fun as well as raising vital funds for the charity. I am very much hoping to take part in a wing-walk next year to raise even more cash.

Would you recommend taking part in Action Duchenne fundraising events?

I’d absolutely recommend them. Our whole family have found the events well-run and entertaining. The Action Duchenne team are wonderfully friendly and accommodating and as some of them invariably take part alongside you, you know they appreciate the effort you are putting in. it’s also great to meet other families affected by Duchenne.

Can you pass any advice on to other families?

Although the diagnosis is initially crushing, positivity is everything and through our involvement with Action Duchenne we know that there is so very much to be hopeful for. The developments in the treatment of DMD are happening at an amazing pace and there are many treatments in the pipeline that are hugely promising for sufferers of different strains. Education is key to understanding and Action Duchenne are brilliant at making seemingly inaccessible information easier to understand.

The other thing we have learned is that as the disease is progressive, nothing changes overnight in the eyes of the your child upon diagnosis. They still live the life they know in the way they are used to and do virtually everything they did before – albeit more carefully and with a little more support.

The changes to their life are relatively gradual and perhaps more easily accepted as a result. Although us adults are acutely aware of the diagnosis, kids are pretty indifferent and take things in their stride which is a godsend in so many ways.

- Nicole Greenfield-Smith is from Kent and works at ThinkBox as Head of Research, is Mum to two children and wife to Pete.