A Mum's perspective
'As long as it's healthy.'
It's funny isn't it? Most people take the healthy bouncing baby scenario for granted. When asked do you mind if its 'pink or blue' the common answer is 'I don't mind as long as it's healthy'.
'As long as it's healthy.' It was a common thing said to me throughout both my pregnancies but more so my second. Truth be known second pregnancy I was dying for a girl, desperate for all things pink and frilly and girly shopping trips.
But what happens when we are faced with the situation no parent or expectant mum wants to be faced with. Do we sink or swim or kind of do a frantic doggy paddle crying I am waving but not drowning. To be honest in my experience over the last eight years it's been a bit of all three and will probably carry on that way.
And if your reading this it's probably because you have been thrust into the world of disability and you're either sinking, swimming or doing the frantic doggy paddle trying to stay above water. Where ever you are on this Duchenne journey, grab a cuppa and a biscuit and take some time to read this blog :-)
I went through my first pregnancy terrified of something going wrong I uttered those five words 'as long as its healthy' I ate all the right things through pregnancy, I didn't touch a drop of alcohol, didn't smoke, didn't eat prawns or weird cheese etc etc. I did everything by the book. 12 week scan came and all was well, 16 weeks blood test came back fine, there was no family history of anything scary. The biggest test the 20 weeks scan came and all looked good and what's more the bump was blue! From that point on baby blue bump in my eyes was destined to be a rugby player. Funny isn't it how we build up our own dreams and hopes for our children even before we know their skills and interests.
After an unremarkable 9 months, I even managed to work past my due date, the time came and after a 36 hour labour (yes 36 hours!) I gave birth to a beautiful bouncing baby boy. The picture of health well until he was whisked away to SCBU as his breathing 'just wasn't right'. The next day though we were reunited and he was fine.
I had my little rugby player cute as a button and healthy. Sound Familiar?
And for the next 18 months I played with, fed and cuddled my perfect boy. Little did we know that we had been lulled into this false sense of security and our world was going to blow apart.
We all know Duchenne is a cruel disease no one can deny that and if ever said to me 'ah but it could be worse' I would want to slap them! But one of the really cruel things as a parent is thinking that we passed the 'as long as it's healthy' hurdle to find out down the line we really haven't. Most kids aren't diagnosed till 3. Mine was 18 months thanks to a great health visitor and physio. It's a two edged sword isn't it 3 years of blissful ignorance but does that then make diagnosis even harder as you will have built up more dreams more plans none of which take disability into account.
I remember diagnosis day going back to pick him up and immediately thinking how life was going to change and boy did our lives change. Catapulted out of blissful ignorance into what felt like a dark abyss. I lived in that world for a while, the world where crying yourself to sleep becomes the norm and walking around in a daze is expected. Some of you maybe there in those really hard few months after diagnosis some may be slowly climbing out and some may have come out. We all deal with it differently and in different times. For me I had to focus on something to get me through it so I threw myself into fundraising and lobbying I needed to do something. But I don't think in that first year I actually dealt with the diagnosis that came later. No one can tell you how to deal with diagnosis. But one thing that really helped put it in perspective for me was the poem Holland. There is a link at the bottom of the page.
Living with Duchenne teaches you so many things and learning about the condition and treatment gave me some control back. We have to learn so many different skills don't we suddenly we have to be doctors, nurses, physios, lobbyists, teachers. We have to learn how to form fill effectively, how to navigate the education system, the housing adaptations system, the NHS.and the list goes on. And more often than not we have to fight with all the systems. On top of that let's not forget the most important role we have as a mum! And some of us will also be wives/partners, employees. It's no wonder we end up doing the frantic doggy paddle trying to keep our heads above water!
Getting to that place of Hope.
Over the last 8 years I have learnt to be all that and in some areas more effective than others. It's helped carry me through from a place of despair to a place of strength. It's a journey and it has its ups and its downs. Within the Duchenne journey we are given many stages and milestones. For me the most important one I reached was the HOPE milestone. Hope gave me the strength to see my way out of the dark abyss. Don't get me wrong I don't have my head in the clouds I don't think my son is going to be cured tomorrow, read on and you will see what I mean.
I know my son has Duchenne I know what the prognosis is so how can I have hope? I have hope because most days I see past Duchenne and see what he can do in spite of Duchenne. I have met many young men with Duchenne who over the years have truly inspired me and given me hope. Hope that Zak can have a good education, a career, a relationship, live independently and have a fulfilling meaningful life. I know he isn't going to be a rugby player but he is going to be something and that's my hope.
On 31st March 2004 though when we got the diagnosis I didn't have that hope, and you may be reading this and you may not have reached that milestone yet, but you will. When we were told our son had Duchenne things were very different, exon skipping was a theory and utrophin a dream. Now look where we are. We were told he would be in a wheelchair probably around 9 years old and life expectancy was 18-25. The only treatment would be steroids when he was a bit older and a bit of physio. There was no joined up working no Duchenne Alliance and no real money being pumped into research. Things have moved on in 8 years not as much as we would like but they have moved. My son is nearly 10 and he is still very much walking I know many young men who have surpassed the life expectancy of 21. Let these facts alone give you some hope.
We still have a long way to go but I believe it's achievable.
The other thing that gave me hope was knowing that even though I can't change the diagnosis I can have a good go at changing the outcome and the life my son has access to. I can make sure Duchenne doesn't define him or our lives and I can take the challenges and turn them into positives. I am planning for the future but I am hoping for a different one.
I still have my bad days I wouldn't be a mum or even human if I didn't.
As I write I am at a soft play centre we all know how hard that can be. I have one child flying around the place and the other slowly but steadily. As I sit here watching my son slowly but surely overcoming the obstacles to get to the top of the frame it gives me strength, it' s seeing his determination and courage that keeps me going.
So whilst we plan for the future let's hope for a different one and more than that let's work towards a different one let's learn from our kids and overcome obstacles with grit and determination...
Duchenne Now that's what its all about, its taking the future into our own hands now and changing the course of it..Together we can treat Duchene Now. Together we can live in that hope.
Welcome to Holland
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...
When you're going to have a baby, it's like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome To Holland".
"Holland?!?" you say, "What do you mean "Holland"??? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy"
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around...and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes that's where I was supposed to go. That's what I had planned".
And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very significant loss.
But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.
by Emily Perl Kingsley