(NOTE – This blog entry is mainly for family and friends who need to understand what it’s actually like to live with Duchenne, in the hope that it will foster a greater understanding and compassion for what we are all living with).
Look at these beautiful and happy faces. These are the faces of Duchenne.
Some are so young, some are older, and sadly some are now running free in our dreams and amongst the stars. But they all have something in common. They are all kids with Duchenne Muscular Dystrophy.
Imagine this . . .
You are lying in your bed, unable to move. Your arms and legs feel like lead. You are hungry and you need to go to the toilet. But you can’t move. You can’t even move your arm to reach a button to notify anyone that you need help. You keep on willing your arms to move, but they don’t react. Your mouth is dry and you need a drink of water – where is someone to help you? And then you are hit with the agony of an itchy nose. Aaaarrrggghhh!! It is driving you insane because you can’t move to scratch it. Oh my god, will someone please come and help me! You call out, hoping someone will hear you. And then, from around the corner, your mother appears. She looks tired from getting up 13 times last night to help you turn in bed, and yet her face still lights up with the most incredible look of love when she sees you. She tends to your needs, she kisses your face, she puts your arms around her neck so you can feel what it’s like to hug someone, and then she pulls up a chair so she can sit with you and spend quality time watching your favourite television show or playing video games together.
And this is a good day.
When we were first told that James had Duchenne Muscular Dystrophy, we were devastated. We couldn’t comprehend the fact that our son would end up in a wheelchair or his life would be cut short. But that’s only part of it, and I’m beginning to realise the actual reality of this disease.
So what is Duchenne Muscular Dystrophy (DMD)? Generally, DMD is not diagnosed in infancy. According to Wikipedia, symptoms usually appear in male children before age 5. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include enlarged calf and deltoid muscles, low endurance, and difficulties in standing unaided or inability to climb stairs. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are fully wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including serious curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs, eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD is around 25, but this varies from individual to individual. (Thank you Wikipedia!) It’s a disease that affects 1 in 3500 baby boys. And even though it’s genetic and sex-linked, it can happen to any child through spontaneous mutation at conception (in over 30% of cases – my son was one of the these), and it can also occur in girls (although rare).
Many people incorrectly assume that a child with Duchenne will lose the ability to walk, and nothing else. But nothing could be further from the truth. The reality is, Duchenne affects pretty much every single part of their body. Think about it – there are muscles in our legs, our arms, our torso, our neck, and of course our heart and diaphragm are muscles. Duchenne ends up affecting every single muscle, even the eyelids. And it’s when the heart and diaphragm are affected that death will eventually occur.
I asked a good friend of mine, 16 year old Dan (real name omitted), to write what his day is like. This is what he wrote, and it is confronting, to say the least. As parents of a newly-diagnosed or young child with Duchenne, we never actually think too far into the future. We never think how it will be when our child is a teenager, or even how they will feel. I am thankful to Dan for being so honest with me, knowing full well that what he wrote would most likely break my heart and force me out of the Cave of Denial, where I have been dwelling. But his reality, and that of many other Duchenne kids, has to be described so others will understand why there is so much urgency to find a cure and provide the best for our kids.
“What’s DMD? It’s the illness I have. Here’s what some of my day is like. Every morning I wake up and call for mum, because I can’t move on my own. While I’m waiting I try and wriggle my body to move myself, but it’s useless – nothing happens. Mum comes to me and gives me a hug and wipes the sleep from my face and sits me up in bed. It makes me feel sad most days now because I can’t lift my arms up to hug mum back and that is what I miss more than anything.
I have a cup of tea, though not like you probably do in a mug or cup. I have mine in a beaker with a straw (a baby beaker), because DMD has taken away the power in my arms to lift a cup to my mouth. It’s hard to eat now as well – it takes me ages because I can only use one hand. The other hand works to hold the working hand up – that’s hard to explain really, but I can move my fork or spoon just enough to get food into my mouth.
When I’m ready to get up, I can’t just get up. Mum has to wash me and dress me, then put a sling around me and hoist me up out of bed, and then position me in my chair. As the day goes by I know I’m asking my mum to do so much for me. If I need to scratch my nose I have to call her to do it for me. If I want a drink I have to call her to get it for me. If I want to go on my Playstation 3 or laptop, I have to call mum to set it up for me. I spend all day sitting down. I’ve forgotten what it feels like to have the wind blow around my back when I go outside, I only get that now when I’ve had beans for tea . . . LOL!
I do get angry sometimes and ask why have I got this shitty DMD. I hear people moan about stupid things and think “If only you knew what it feels like to be trapped in a body that won’t move, even though in my head I’m telling it to”.
I have to ask for help with pretty much everything I want to do and that gets very annoying. I can’t do the simple things like scratch my nose when it’s all itchy, and I hate having to ask for help all the time, but that’s how my life is.
When I was little I used to have a lot of fear – fear I’d fall or fear someone would knock me over. Now I’m older, I have a fear of being ill. A cold can go to my chest and then I spend ages getting better. This year I was very poorly and had to go to hospital because I can’t cough strongly enough to get rid of the mucus that stays on my chest. It took me nearly 5 weeks to start to feel better. I now have a machine to help me cough, but I still worry every time someone around me has a cold that I will get it and be poorly for weeks. Just to get over a cold. I know I’m going to need more drugs and machines to help my heart and lungs, and I’m ok with that because it’ll keep me well so I can enjoy every day that I have.
My body is pretty much useless, BUT I enjoy every day that I have because I know that I may not have that many days to my life.
I wish it wasn’t like this, but it is so there’s no point moaning. My dream is though that one day a cure will be found and no more boys and girls will have to live with this shitty illness ever again. I say “living with” because I hate it when I read “suffering with DMD”. I don’t suffer, I live with it.
My favourite song is “Always look on the bright side of life”, and that is what i try to do. I have days when I get angry about everything and I have days when I get depressed about not being able to do what I want on my own, but mostly I enjoy my days. I can go on my PS3, laptop, and I’m getting into photography. Even though I can’t pick up a camera myself, I can tell someone else what I want and then take the shot by remote. My Gran always told me “Where there’s a will, there’s a way” and it’s true”.
Such a mature attitude from a boy who should be out kicking a ball and playing with his mates, getting up to all sorts of mischief, and gearing up to finish school and move into the world of grown ups. Something we all take for granted with our children, but experience has taught me that a “normal” future like this isn’t always a given.
There really is no way to sugarcoat the reality of Duchenne. It sucks. Big-hairy-balls-kind-of-sucks. It’s not as simple as just never being able to walk again – if only that was the case. It affects everything, from the way our kids live their lives, to the extra care needed by us (their parents). It affects families financially, emotionally, mentally, and spiritually. Marriages crumble much harder and faster than average, because of the overwhelming effect it has on the entire family.
We never asked for our kids to be afflicted with such an insidious illness, and our children most certainly never asked for it. And yet here we are, mortgaging our houses and going into huge amounts of debt to pay for expensive medical equipment, breathing machines, air ventilation units, modifications, wheelchairs, accessible vehicles, treatment, and therapies, many of which we don’t receive funding for, or funding is very little. Our kids need beds that turn them throughout the night, beds that most families will never be able to afford as they cost tens of thousands of dollars. Families need wheelchair-accessible vehicles, and they don’t come cheap. Nor do the modifications on existing vehicles. We recently received a quote to modify our car – it was$32,ooo!!! Most families don’t have $1,000 lying around, let alone $32,000. And yet we have to somehow find that money just so we can transport our son from one place to another.
Medical therapies and treatment are also costly, both financially and time-wise. With a (short) lifetime of physiotherapy, occupational therapy, speech therapy, hydrotherapy, bone-scans, cardiac assessments, opthamology exams, psychologists, counselling, and numerous other specialist appointments, our hip pockets take a hit and our diaries are full. And that’s even with top cover health insurance. We are lucky here in Australia to have many things covered, but there are still so many out-of-pocket expenses. Then there are drug therapies, trials, hospital stays, vaccinations, stomach feeding-tubes, assessments, and reviews. There are IEPs to be done at school, and constant dialogue with both teachers and special ed support workers. Steroids cause weight gain, rages and meltdowns, reduced bone density, cataracts, and numerous other side effects. Autism is common, as are other behavioural problems. Most kids develop cardiomyopathy or respiratory problems. And severe scoliosis is a serious and common problem, resulting in full spinal fusion. Imagine having to go through all that, either yourself or with your child.
I think one of the most heartbreaking aspects of having a child with DMD is the affect it can have on marriages and family life. Gone are the normal family activities, like bikeriding and hiking and snowskiing. Partaking in any of those activities means that the child with DMD has to sit out and watch. Even family vacations, and particularly camping, ends up becoming a thing of the past. Our son James is now 12 years old and spends most of his time in a wheelchair or on a sofa/sitting down. We made the decision that they years before he goes off his feet for good would be spent exploring our beautiful country, showing the kids sights and experiences that we remember growing up. And it has been expensive, but it had to be done sooner rather than later, because once he’s fully wheelchair-bound it will all be too hard.
There will come a time when going on holidays will mean taking equipment to make James’s stay more comfortable and less back-breaking on us. Hoists, electric wheelchairs, and profiling mattresses are just for starters. Not to mention the fact that his wheelchair will take up pretty much the entire rear of the car, leaving no room for luggage. And even before we get to that stage, there’s still the matter of finding accommodation that is wheelchair accessible, without an exorbitant price per night. Not so easy, let me tell you. As for visiting family and friends, that can become tricky. James’s grandparents live in a house in Sydney, a house where the entrance is up a flight of stairs on the second floor. On previous occasions, we have been able to carry him up, but he’s so heavy now that we can barely do it now, let alone for much longer. I know some would say “put him on a diet”, but that’s difficult when he’s also on steroids (which increases water retention and appetite) and he can’t exercise. But my point is, visiting family and friends will quickly become a thing of the past as well. Unless their home is wheelchair accessible, which many homes aren’t. In the near future, we will not be able to visit the kids’ grandparents, or most of our family and friends. We will miss out on things like birthdays and christmas celebrations and other family occasions, all because our child won’t have access. And that sucks. For all of us.
It’s often difficult for extended family and friends to understand the difficulties in our lives compared to theirs. I have been told by some that “you’ve changed” over the past few years. Well, I think it’s safe to say that anyone who doesn’t change when hit by something like DMD is both inhuman and devoid of all emotion. I have changed, I’m not the person I used to be. I miss the person I used to be, and I know I will never see that person again. Whereas I used to be happy and carefree, now I’m just scared and sad. And I’m on a mission to give my son (and my other 3 children) the best life possible, even if that means upsetting others in the process. I’ve learnt that life is not a popularity contest, but I’ve also learnt that life is short and uncertain, and time is too precious to waste. Even though it’s reported that kids with duchenne are living into their twenties and thirties, that seems to be the minority. The fact is, many kids with Duchenne are dying whilst they’re kids.
As my friend Jenn (who has two boys with Duchenne) wrote, living with Duchenne means a lifetime of doctors, medications, appointments, school struggles, expenses, and heartbreak. It puts mothers and fathers under stress that no marriage should have to try and survive. It means siblings get left out, pushed aside and ultimately left behind by their brothers illness. Duchenne alienates family members and rips apart friendships. Duchenne hurts, both physically and emotionall . It is a backache from too much lifting, and a headache from too much crying. Living with Duchenne means heartache, helplessness, fear, and grief. It is a lesson on patience, acceptance, and loving even when it’s hard. And it gets bloody hard, for all of us.
So if you are a family member or a friend of someone living with Duchenne, please try to remember what they are going through. Please remember that they need your support, and they need your love. Most of all, they need you there when times get especially tough or overwhelming. Please don’t judge them, and don’t put such high expectations on them, and please try to show both understanding and compassion. Let this blog be a turning point for you, so that you now truly understand what “living with Duchenne” means and use your knowledge to make a difference. And never, ever, ever make us feel bad because we’ve changed and are no longer the person we used to be. The more understanding and support we have, the more awareness and funds we can raise, and the faster research will progress. And the easier our lives will (hopefully) be.
And the next time you have money to give, think about the kids in the photo above and give generously to Duchenne. Because every single dollar can make a difference. And every single child that lives with Duchenne deserves not to.
I wrote this blog over a year ago. After it was published, I received a message from an anonymous reader asking why this post is so negative.
Why focus on the negatives?
Because everyone seems to paint a picture of men living into their 20s and 30s, when I already know of so many boys who haven’t even made it to 20. For every person living with Duchenne who makes it into their late 20s or even their 30s, there are a dozen or more who don’t.
The fact is, Duchenne still is 100% terminal and that’s not changing in a hurry, no matter how much hope we can all have for research. Yes, it’s a promising time for some, those whose kids will possibly benefit from exon skipping, but that’s still not a cure it only helps a small percentage of the kids.
I know so many parents, hundreds in fact, who feel the same way I do. And my 16 year old friend wrote how he feels. Yes, there are young men out there who are quite “happy” with their lives, and whose parents are making the most of it. As parents ourselves, we try to make the most of it in terms of doing as much as we can and seeing as much as we can, and helping James to have a lifetime of memories in a short time. But for most of us, there are crippling expenses, siblings who are pushed aside, and lives that are compromised. And there are kids with Duchenne who are being bullied because they aren’t “normal” like other kids, kids who watch others playing sport and wish like crazy that they could at least move their legs and walk let alone run.
Most of us live “happy” lives, we have to make our lives as happy as we can for our kids. But the fact is, many of us cry ourselves to sleep every night because of the helplessness we feel and the grief of knowing what this disease is doing to our own beautiful children. Many of us are on medication just to get through the day. Many of our marriages have failed because of the stress it puts on us as individuals and partners.
I am sick of Duchenne being sugar-coated, and made out to be less serious than it actually is.
I never knew exactly what it was going to be like, how difficult it was going to be for my son and the rest of my family, or the impact it was going to have on extended family members and friends not understanding.
I never realised how much of a strain this would have on us financially, and how every decision we make is based on Duchenne – where we live, what sort of car we drive, where we go for holidays, what sort of job my husband can take so he has flexibility to be around when he can.
I never realised that taking my son to a rugby match, whilst making him happy, would also make him so angry because he has a body that is failing him.
And I never knew what sort of effect the steroids would play on his behaviour, and how that behaviour affects his relationship with his siblings and his school friends and us (his parents). And it’s not his fault, so I can’t get angry with him in the way I would with my other kids – I have to learn to deal with his behaviour in other ways.
This post was not meant to be positive or sugar-coated, it was written from the reality of myself and so many others. This is how duchenne affects so many of us. And most of us wear a mask out in public, so others don’t know what we are thinking or feeling or dealing with.
This post is to family and friends, to explain why we are angry and why we cry and why our priorities are different to those with healthy kids. This is for them to understand US, and to have some comprehension of what our lives are going to be like, to encourage them and teach them that we need their support and understanding.
This post is so those family members and friends, who resent us because we’ve changed, might actually understand why we’ve changed and show a little more compassion and support.
This is for those family members and friends who get angry and upset when we can’t attend family functions because the venue is inaccessible, and have no idea of how accessibility plays a big part in where we go and what we do. This blog is not for those going through Duchenne, although I have received so many emails and messages from those people who are affected by duchenne to voice their appreciation and for finally making public how so many of us live our lives.
Whether research is moving ahead or not, this is how we feel. And let’s face it – research isn’t moving ahead fast enough. Probably not fast enough to save most of the boys in that photo.
I’m a realist. I say it as it is. And I don’t sugar-coat.