Joe was diagnosed in 2014, just a couple of weeks after his fourth birthday. Before the appointment with the consultant, we’d had our suspicions – largely due to a comment our GP had made about Joe’s symptoms, and then some searching we’d done on the internet.
I remember the consultant asking the nurse to take Joe out of the room, and then hearing a noise like a wild animal. It turned out to be my husband, Darren: he knew what was coming, even before the word ‘Duchenne’ was spoken out loud.
In that moment, our lives changed forever. My mind ran away with me, and I fast forwarded 10 years, would Joe still be walking? In 15 years, would he still be breathing unaided? In 20 years, would he still be with us…? I pictured my husband and I in our old age meeting new people and being asked if we had children. How would we reply? How do you even comprehend answering a question like that?
Then came a light in the darkness. We were contacted by Sue, a Neuromuscular Care Advisor whose position was campaigned for and funded by MDUK. She talked to us about the boys she knew with Duchenne and how, with medical advances and support, they were living full and wonderful lives.
You may have heard about one treatment in particular, the incredible drug Translarna, which has meant that boys with Duchenne, who previously might have expected to be full-time wheelchair users by around the age of ten, are now walking, riding bikes and driving cars into their early twenties.
This drug has recently been recommended by The National Institute for Health and Care Excellence (NICE) as an option for treating Duchenne muscular dystrophy.
This is simply wonderful news but, for us, it’s somewhat bittersweet as, unfortunately, my son Joe has never been eligible for this drug. You see, Translarna targets a particular genetic change, called a ‘nonsense mutation’, and which causes just 10-15 percent of cases of Duchenne. Quite simply, Joe’s condition isn’t caused by this mutation and so this drug wouldn’t be effective for him.
There are over 60 types of muscle-wasting conditions, Duchenne being just one, and within these conditions, different mutations mean we need different treatments. So, you can see how complex these conditions are, and how much work we still have to do so that children born in the years to come can live lives free from the limitations of muscular dystrophy.
Which brings me to my reason for sharing our story today. I would like to ask if you’ll consider leaving a gift in your Will to MDUK.
We understand that loved ones always come first but, once they are provided for, many people choose to donate a share of what is left over to a charity they care about. Gifts in Wills are so incredibly precious to MDUK: in fact, they fund a quarter of all the work the charity does. These special gifts enable new research to find treatments and cures for all conditions.
We know that including MDUK in your Will is a decision that no-one takes lightly. But if you choose to do so, even as little as one percent of your estate will make a really meaningful contribution to MDUK’s work for years to come. And making a Will needn’t cost you anything now. I have enclosed a flyer that details how easy it is to have a simple Will made or amended for free through MDUK’s membership of the National Free Wills Network. I hope you will read it and give it some thought.
I firmly believe that hope lies in research. Every gift in every Will increases that hope for families like mine.
Back when MDUK was founded, over 60 years ago, very little was known about muscular dystrophy and the life expectancy for boys with Duchenne was just 14. Today, some men with Duchenne are reaching their 40s and 50s and having families of their own.
It was research that led to the treatments that are now accessible, as well as the ones currently being trialled, and it is research that will lead to the treatments we are yet to discover.
You can be a part of these discoveries with a gift in your Will. I hope you will consider joining us with one of these special gifts, to enable the next generation of research scientists to finish what we’ve started, and to make muscular dystrophy a thing of the past.
Find out more about leaving a gift in your Will.