About Duchenne

Duchenne Muscular Dystrophy is an aggressive form of Muscular Dystrophy that affects 1 in every 3,500 boys born.

It results in total paralysis.

Every single muscle is destroyed due to a lack of protein.  It also affects the heart and the lungs.

There are very few treatments available to help all children at present. And no cure.

 

Stages of Duchenne

  • Age 3-5 – Diagnosis/trouble keeping up with peers
  • Age 6-9 – Muscles begin to deteriorate
  • Age 9-13 – Progressive muscle loss and damage/wheelchair dependent
  • Age 13+ – Heart and respiratory complications
  • Age 19+ – Ventilation dependent/24-hour care
  • Mid-late 20’s – Current average age boys will lose their life

The Facts

  • 60% are carrier cases meaning the mother carries the gene and passes this onto their new born child
  • 40% are spontaneous mutations meaning a child with Duchenne can be born without the mother carrying the faulty gene and therefore can affect anyone at any time
  • Around 50 boys are affected in the East Midlands
  • 2,500 boys are affected in the UK alone
  • 300,000 sufferers worldwide – that we know about
  • Boys affected by Duchenne may look healthy on the outside, but on the inside fatty scare tissue is what makes up a bulk of their muscle tissue
  • Duchenne causes respiratory impairment and cardiomyopathy in later years
  • Very few drugs prescribed for Duchenne – steroids which have serious side effects and Translarna which will only help around 13% of all cases
  • The landscape of research has changed dramatically over recent years and intensive research to find a cure is carrying on in many centres around the world
  • 60+ clinical trials are now taking place thanks to charities like Alex’s Wish
  • Care is improving and boys are now living longer – but still not long enough

So what does this all means for those affected…

Imagine a life where every moment becomes a struggle, you get up in the morning and need 24 hour care to help you get out of bed, wash and get ready.  You need help to eat and are unable to scratch the itch you have on your nose. You require a respiratory machine to keep you alive and are unable to walk out of your front door, get in a car and drive to where you want to go without the help of others.

For adults with Duchenne, everyday life is hard.  They see their friends with Duchenne die one by one leaving them feeling isolated and with the knowledge of what lies ahead for them.  They live a life trapped in a body that doesn’t want to work. Lets get things straight, some adults living with Duchenne are living a full life and making the best of it – and they are an inspiration to younger boys. But its far from easy.

Younger boys like Alex also live with daily struggles too.  They are unable to play sports as they are unable to keep up with their friends; they need a wheelchair as walking even a short distance is too difficult for them. They have to endure lots of hospital appointments, and some boys are also taking part in clinical trials (like Alex) often requiring weekly/monthly drug infusions.  Most boys take daily steriods (as this is the only treatment to help keep them mobile for a little longer) but these come with serious side effects.  Alex broke his hip a few years ago due to bone weakness caused by steriods. They delay puberty and cause weight gain and reduced growth. They have to cope with the physiological problems of living with a life-limiting condition – knowing their condition will keep getting worse. This has huge strains on families living with Duchenne.

Duchenne also devastates the families of those affected, as they are often unable to cope with the diagnosis, as well as the care and support needed to bring up a child with Duchenne.  Then, of course, there is the constant emotional turmoil of Duchenne’s devastating and relentless destruction of the one they love and knowing that there is no treatment or cure that will help them. Some families often struggle financially as often one parent will need to give up work to care for their child. The cost of living with a child with Duchenne is huge as grants do not always cover the full cost of renovating homes and providing the necessary equipment needed.

These are just some of the reasons why we need to find a cure for Duchenne right now!  Families have to live in hope.  Your support and help will have a massive positive impact on those lives affected.

Click here to view a video on You Tube that explains what this disease does to young boys – it’s heart breaking.