Duchenne Awareness Day
Today is Duchenne Awareness Day and as some may know I'm living with Duchenne Muscular Dystrophy myself. It's a devastating life shortening disease that affects 1 in 3500 male births and through a rare process called skewed X inactivation some females develop it too. DMD is caused by a damaged protein called Dystrophin which is located in the X chromosome hence it mainly affects males.
Without Dystrophin muscle cells eventually die and get turned into connective tissue and adipose. This has terrible consequences on the body, starting with weakness and fatigue leading to wheelchair use at 8-12 years. As it's a progressive disease it doesn't stop there, the arms and upper body start failing in the teenage years and then the heart and lung muscles are affected leading to eventual death which occurs on average in the mid twenties although it can vary depending on individual circumstances.
Pretty grim reading.
So what is it really like living with this disease I want to share three perspectives siblings, parents and myself as someone affected by it.
Siblings:-
They watch on as their affected sibling gets weaker often not knowing what is going on until later on. They can miss out on valuable time with their parents and often worry about their sibling. It's definitely hard on them too. I have sometimes felt sad that my sisters may have missed out but our parents tried their best to share their time. My mother is prominently caring for me so mother daughter time is obviously diminished but they do what they can. Siblings are often really caring and they'd do anything for their affected sibling which is admirable.
Parents:-
They get a devastating diagnosis day and often the mothers blame themselves for their child's illness, but it's not their fault because we have no idea what damages the dystrophin protein. It's hard on their marriages sometimes leading to divorce but often it can galvanize a relationship as they have to rely on each other. Financially it's very difficult because housing must be altered for wheelchair access, new vehicles must be purchased for wheelchair access also, electricity bills can increase because of medical equipment and heating bills are high because of poor circulation. Physically it's difficult initially lifting their children until hoists take over but eventually their doing personal care, having chronic sleep deprivation, operating life saving equipment and generally doing everything their child needs being on call 24/7. Their in a living grief anticipating the eventual death of their child but some deal with it better than others but that's not to point fingers. My parents are incredibly positive and that definitely rubs off on me.
Affected individual:-Without Dystrophin muscle cells eventually die and get turned into connective tissue and adipose. This has terrible consequences on the body, starting with weakness and fatigue leading to wheelchair use at 8-12 years. As it's a progressive disease it doesn't stop there, the arms and upper body start failing in the teenage years and then the heart and lung muscles are affected leading to eventual death which occurs on average in the mid twenties although it can vary depending on individual circumstances.
Pretty grim reading.
So what is it really like living with this disease I want to share three perspectives siblings, parents and myself as someone affected by it.
Siblings:-
They watch on as their affected sibling gets weaker often not knowing what is going on until later on. They can miss out on valuable time with their parents and often worry about their sibling. It's definitely hard on them too. I have sometimes felt sad that my sisters may have missed out but our parents tried their best to share their time. My mother is prominently caring for me so mother daughter time is obviously diminished but they do what they can. Siblings are often really caring and they'd do anything for their affected sibling which is admirable.
Parents:-
They get a devastating diagnosis day and often the mothers blame themselves for their child's illness, but it's not their fault because we have no idea what damages the dystrophin protein. It's hard on their marriages sometimes leading to divorce but often it can galvanize a relationship as they have to rely on each other. Financially it's very difficult because housing must be altered for wheelchair access, new vehicles must be purchased for wheelchair access also, electricity bills can increase because of medical equipment and heating bills are high because of poor circulation. Physically it's difficult initially lifting their children until hoists take over but eventually their doing personal care, having chronic sleep deprivation, operating life saving equipment and generally doing everything their child needs being on call 24/7. Their in a living grief anticipating the eventual death of their child but some deal with it better than others but that's not to point fingers. My parents are incredibly positive and that definitely rubs off on me.
I never had a specific diagnosis day but gradually on my own terms when I was curious my parents and the internet gave me the knowledge I needed over the course of 15 years. I'm still learning about DMD because it relentlessly steals abilities and you never know what is next to go. As of now I'm 31 and I'm a virtual quadriplegic but I can still feel things. I'm reliant on a non invasive ventilator to breathe 21 hours a day and I'm on heart medication because I have cardiomyopathy. I have a twisted spine which makes getting comfortable very difficult often very painfully so. I've felt sick with back pain thankfully not often. I have no effective cough so I've had mini tracheotomy for 14 years to allow me to have suctioning to remove mucus. I struggle to swallow so require pureed food. My hands are severely contracted into fist positions and I barely have ability to click a mouse, typing this is tiring, painful and has taken almost 3 hours.
Things I miss, I definitely miss giving hugs to people, being able to care for my physical needs, I miss pastry, bread and textures in food, being able to scratch an itch, playing with and holding my 3 nieces and nephew and being truly alone outdoors. It's definitely a relentless all encompassing disease that I wish never existed. I can do many things despite this disease for instance I wrote a book and I'm a digital artist. Faith is extremely important to me and gives me hope of a future cure for ALL diseases. Never give up hope.
I hope this has been insightful.
EBOOK available here; https://www.smashwords.com/books/view/69702
Available on Amazon USA here; http://www.amazon.com/DMD-Life-Art-Ian-Griffiths/dp/1907652337/ref=sr_1_1?ie=UTF8&s=books&qid=1288120811&sr=8-1
Available on Amazon UK here; http://www.amazon.co.uk/DMD-LIFE-ART-AND-ME/dp/1907652337/ref=sr_1_1?ie=UTF8&s=books&qid=1288105302&sr=8-1
My new Ebook Poetic Diversions available to buy here; https://www.smashwords.com/books/view/206857
All links available in my website here; http://duchennemen.net16.net/Buy-my-books/
My art can be viewed here; http://www.redbubble.com/people/thebigg2005
Foreword
I’m Ian Griffiths from South Wales. This book is a story of my life so far up to the age of twenty five years. I live with and suffer from the ill effects of DMD which stands for Duchenne Muscular Dystrophy. It is a severe muscle wasting disease and a life limiting terminal illness. It won’t kill you in six months in the traditional sense of ‘terminal’, but it’s far crueller than that, it steals every muscle in your body first and then kills you, anywhere up to the age of thirty. There have been cases of men living past that into their forties and fifties but only with drastic interventions such as ventilators and tracheotomies, more on this can be found by reading on.
I hope to cover a few things in this book, from a history of my childhood years to a more detailed history from sixteen years onwards and finally onto my current problems and triumphs. At times things I write may make you smile or may make you pause and think about the seriousness of life with this devastating disease. I really hope there will be a cure but currently for us supposedly ‘older’ guys with DMD (over twenty one), there seems very little hope. If I don’t see a cure in my lifetime, I hope my campaigning helps in some way bring it about for future generations, so another child won’t have to see their body wither and die before their time
