Category Archives: duchenne

The beginning of the end

The beginning of the end

Two things today made me cry.

The first caught me off guard and as much as I tried to swallow them away, to inconspicuously wipe the first few tears as they pricked the corners of my eyes they fell. Making me feel small, uncertain and very vulnerable.

I failed and the emotion of the moment got the better of me and the tears over spilled in front of a consultant, a physio, a nurse and the school OT..awkward!

I am often referred to as strong, determined and a bit feisty. I will try my utmost to keep my emotions at bay and usually they come out as strong worded emails that I can hide behind and control. Not today.

I was told that one thing that needs to be done as part of transition and to ensure Z has a voice in his medical care is a bit of paperwork which includes an emergency health care plan. This is a plan that is to be put in place to direct the medical staff if an emergency was to take place with Z. How far would we want them to go with treatment etc.

Well obviously as far as they possibly can because why wouldn’t they?

The enormity of the meaning of this plan and how it could change over time brought the tears and I felt totally overwhelmed by it all. I know it will need to be done and I know why it was mentioned but my head is not ready to deal with those tasks and my heart broke a little bit more.

I have dealt with the same services for a number of years. I have a good relationship with most of them but the cocoon of those services is about to be torn apart and we are not ready to come out of it. These are services that have, in general, protected, provided and supported the needs of one of the most precious people in my life and now their job is to move him on. That would be great if there was something to move on to but I feel we are about to be cruelly ripped out of the cocoon and thrown into the long grass.

This is Transition! I have heard other parents talk about their experiences and now its our turn.

It seems only yesterday we were starting the process of Z accessing children’s services, only yesterday that we began the journey of navigating support and getting all the referrals to the people that can help him get the best life possible, getting his statement, getting him known to the children with disabilities team, accessing amazing physio support and getting the house adapted. It wasn’t yesterday though! It has been almost 15 years!

Transition is looming and I am just not ready.

fav rainbow quoteThe second thing that made me cry was my 4 year old singing ‘Somewhere over the rainbow to me.’ Its our little song after all she is my little rainbow. I usually have to sing it to her but today she wanted to sing to me.

Her innocence and her sweet little voice singing about dreams coming true and troubles melting like lemon drops.

Someday I’ll wish upon a star, and wake up where the clouds are far behind me
Where troubles melt like lemon drops, away above the chimney tops
That’s where you’ll find me

If happy little bluebirds fly above the rainbow why oh why cant I….


Collective collabaration .. the road ahead 

Collective collabaration .. the road ahead 

Last Friday I attended a workshop organised by Duchenne UK, DMD Pathfinders and the Duchenne Hub. The workshop was to discuss how we can develop trials for adults in Duchenne.

Primarily I left encouraged.

  • Encouraged that we are now having conversations about trials in the adult population ( I think ) I’m not sure if everyone in the room embraced the word adult or if when the word adult is used they are actually meaning non ambulant. Currently there is only 1 trial that is for adult age the rest cut off at 16-18. That is not adult.
  • Encouraged because there are some real discussions taking place around outcomes and end points other than the 6 minute walk test. One of the slides was entitled ‘outcomes for grownups.’  The PUL (performance of upper limb) is now becoming a recognised standardised tool in clinical trials.  I’m sure there is further work to be done on tools to include adults and those with very limited upper body strength. There is definitely some work to be done still around measuring quality of life outcomes.
  • But most of all it was encouraging to see in one room representatives from health, research, pharma, patients and patient organisations

For the first time I felt there was a real desire for collaboration between industry, patient organisations,  health and research. That is testament to the hard work of Duchenne UK.

We have moved on from blaming to moving forward.

It’s been about two years since the emotionally charged meeting at the Centre for Life where patient organisations and researchers met in the midst of a crisis situation.

Clinical trials were being turned away as centres were at capacity. This situation had come about, I think, because of lack of foresight, collaboration and lack of funding.

Out of that meeting The DMD Hub was formed and Work began and now the situation is changing. In just two years we have more trial sites and more clinical trials taking place.

True Collaboration works!

Now we are faced with another challenge. Getting trials and treatments to the whole of the DMD population.

It’s a huge task! However we have the starting blocks.

  • We have standards of care that are now recognised for adults
  • We have conversations taking place
  • We have recognition from all sectors that this is needed.
  • And I think we have commitment … time will tell on that one.

Why is it so important ?

One day these children that we have invested in so heavily, in terms of research, care and trials they are going grow up. The majority will reach 18, 25 and possibly even 30!

They are going to be the next generation of adults. These children who can take advantage of trials now will need to be followed and monitored and we have to ensure we have the infrastructure to do that.

The drugs we have now are slowing the decline but they are not stopping it.

Better access to standards of care, better treatments , better heart and respiratory care isn’t going to ease the burden on our clinical infrastructure it’s going to increase it. The Duchenne adult population will increase as our children grow up and live longer. So more than ever we need to look at the bigger picture. Let’s not be so short sighted we create another crisis.

For example I was shocked to hear that one of the biggest hospitals in Scotland doesn’t have access to a hoist for dexa scans. We can start by getting the clinic infrastructure prepared.

I hope that yesterday was the start of something truly ground breaking. I am confident that Duchenne UK will hold every biotech and every researcher to account and we will further the opportunities for all with Duchenne.

As a side note : Catch 22

The first approved treatment for Duchenne took 18 years! I was listening to the representative from PTC who thoroughly depressed me with his presentation. He was proud of being the only biotech to have an approved treatment but as he went on to explain it took 18 years!

We don’t have 18 years to sort this for the adults with Duchenne.  I think we all know that by now.

When asked a question around ensuring access for adults on trials he said they are in a catch 22 situation. They have to design effective trials to meet endpoints to get approval or no one gets the drug. He said it’s about give and take. I still can not decide whether that was an insensitive or just a brutally honest answer.  However it was said to an adult patient and from what I understand there’s not been any giving or taking from the adult Duchenne population.  They don’t have the opportunities to give to research and they certainly haven’t been able to take from research.

We need industry and the regulators to really think outside their small 4-12 years old ambulant boxes.

We need to get ourselves out of this catch 22. Until we can find the magic bullet, which stops the disease in its tracks, we have got to remember that all these children will become adults and will need better access to treatment and care than there is currently.

We’ve got a long road ahead of us in this journey but finally it’s a journey that’s begun.


Let’s not be afraid to make the paths where currently there are none, ensuring that those to come next can follow in these brave new steps.

Step by step let’s do everything we can collectively to ensure no one is left behind.

Enough of the Cheese


I hate this time of year – I love Christmas but after the last present has been unwrapped, the last bit of Christmas dinner eaten or fried up I am done with it.

Because what comes after boxing day is just days of limbo waiting for the turning of the new year and I hate that part even more.

I like order, I like tidiness and I can’t do unpredictable or uncontrollable and those few days of ‘crimbo limbo’ just make me anxious, down and insular.

I have to force myself up and out, My Mum will be surprised to read that I actually don’t indulge too much in the alcohol or chocolates as I know if I start I wouldn’t stop and then come New Year I will be berating myself for the extra pounds put on.

During the lead up to Christmas I am busy, busy shopping, planning and ensuring that we all have an amazing Christmas one to remember, another memory for the box. When you have a child who, one day, you know you will face Christmas without you try and make the most of every moment. Capture every smile, every laughter, every present swap just so when they are gone you have something tangible to look at and hold. Memories – because one day that is all I will have.

This year however I had to take a step back from the camera, over the last year I have learnt alot about being present, being there in the moment instead of looking on from a view point years down the line and trying my hardest to capture it to box it up. So after a few token surprise face photos I put down the camera and I looked through my eyes instead of a lens and I saw firsthand the smiles, the laughter, the present swaps and as I saw each one with my own eyes I stored them deep in my heart. I buried the fear of a Christmas without him deep deep down and enjoyed the Christmas with him. (as well as with the rest of them obviously)

But then come these days, these days where they all blend into one, where you get fed up of turkey, cheese and crackers and the thought of another mince pie makes you wretch. The days where seasonally they are dark, cold and wet and all you want to do is stay indoors, in bed and hide away. Or maybe that really is just me?  I know that in a couple of days time New Years Eve will hit and I will have to plaster a smile and pretend to celebrate another turn of the year and make plans for 2018.

I can no longer make plans – look too far ahead because the future scares the absolute shit out of me. There have been so many changes in the last year what can happen next year? Plus on top of all that I am turning 40 in 2018 and let’s face that alone is depressing.

But back to today, the kids argued all day, the weather was crap, all I saw on social media feeds were kids having fun sledging, building snowmen and pretty pictures of snow. We had rain! Awful heavy rain and it stayed dark most of the day. I stayed in bed for as long as I possibly could then when the guilt of doing nothing got to much I got up and had a shower. I then remembered that actually it’s ok to feel like this, maybe in some strange way it is normal, like some sort of Christmas comedown. My only way back up was to write off today accept the feelings and practice some self care and self love. So I put some music on, put a face mask on and then played mousetrap with the kids. They still fought like cat and dog (or should that be cat and mouse) but we managed to get through three games relatively unscathed, Then after more cheese, crackers and pate I retreated to bed accompanied by violet gin, my thoughts and this blog, whilst my amazing husband watched Harry Potter with the girls and Z went on his new game. Which incidentally I can hear blaring out of his room!

There have been days like today before and there will be days like today again. On this journey sometimes it feels like  I stop  under a very dark cloud and you know what that is ok. What is not ok is to make it home and to settle there.

Fearne Cotton, in her new book Happy, refers to the Pendulum therapeutic tool

‘We all feel scared of getting too happy, as its often sidelined by the fear of that moment ceasing to exist. Fall into good times feeling safe, but knowing of course that it will have a natural end. The same with the darker times. All this too shall pass. If, like me, ‘blue’ or ‘black’ is one of your go to states, let it come and pass naturally. Don’t get stuck in it for too long and dont feel desperate to block it out or numb it with other feelings. There’s room for it all.

Fearne Cotton (Happy)

Tomorrow is a new day….

2018 is a brand New Year full of empty pages ready to be written and if I let the dark cloud s

starswallow me all that will happen is my hopes and dreams will be spat out and if we don’t have hope we have nothing.

Being Present 

Being Present 



toasting marshmallows with mates

The anniversary of a Duchenne Diagnosis day is often described as the day people felt they started to grieve for a child they lost and with that to say goodbye to dreams they had for their child and the life they thought they would have.

I’ve been there and said things like ‘He’s never going to play international rugby now, he won’t have a girlfriend, a job, get married, he’s not going to do this or will never do that’ Chances are he was never going to play rugby internationally anyway!

But he can still have a job, a relationship, get married and maybe even become a dad.

Last week we celebrated my nephews birthday he’s 2 weeks older than Zak. My earliest memories of my nephew involve cuddling him on my huge, ready to pop, belly and introducing him to his unborn cousin and thinking of all the adventures they would get up to and how close they would be growing up.

This year was one of the hardest birthdays as it was obvious looking at my nephew who all of a sudden has grown, literally, head and shoulders above me and grown into the life of a teenager going out doing his thing, planning for GCSEs and as I silently watched I thought to myself ‘that should be Zak.’

Little did I know 15 years ago how different their lives would be.

Birthdays are often the hardest in the Duchenne community, birthdays, Christmas and diagnosis days. Why is that? Well simply put it is because we don’t know how many more of them we have left.

As our kids get older the deterioration becomes more obvious. Zak will be 15 on Monday he is more than half way through the average life expectancy. There are many things now that the condition has taken from him, things he can no longer do.

However the other day I had a moment, some may call it an epiphany. This led to me making a commitment to myself that this year I am only going to celebrate – celebrate that on 21 August 5:10pm after the most horrendously long and difficult labour my firstborn came into the world and for every day I have him I will celebrate this day.

I know that one day the 21 August is going to be a really, really tough day so why should I make it tough prematurely?

I started then to unpick this theory of throwing away dreams, of comparing lifestyles – of saying things like ‘that should of been Zak’

Zak is Zak, end of. OK so he isn’t planning his GCSEs but he is planning a future , he has not grown head and shoulders above me physically but my goodness he has in his courage, determination and personality.

He asked me the other day if I was still sad because he couldn’t walk anymore , my reply was simply ‘no not really Zak I think I’ve got used to it’ I asked him how he felt and he replied ‘I’m still sad but I will be ok in a few weeks’  he said it so matter of fact.

He makes friends easily and he may not always access that in the same way as others his age but he is popular, he is friendly, and he is kind and isn’t that what we dream of for our kids?

As I started writing this he was down the club house probably talking the hind end off a donkey! He actually didn’t get back in until 2:30am!

I’ve watched him mature over the last year – OK so maybe a little more closely than my sister has with her son but maybe that, for me, is a privilege and not something to bemoan.

I dreamt of having good relationships with all my kids and I have that with Zak we have a great bond and he makes me laugh every day.


Amazing big brother

He’s an amazing big brother he teaches them naughty words, gives backers on his wheels and will still play minecraft and lego heroes with Sian even though he has moved on to games above her age.


A rare moment of laughter in the midst of dementia.

He has courage way beyond his years and a sensitivity to situations and people that most kids his age and even some adults probably don’t have. Just the other day I had the privilege of watching him visit his Great Grandma in the home, the smile and cheer he gave not only to her but to the other residents. He really does have the gift of the gab and the ability to make people laugh.

On the flip side he has the most amazing teenage outbursts. His version of stomping up the stairs is slamming his fist on the lift door opener and going up shouting things or muttering to himself! The other week he decided he was so annoyed about something he actually stropped out of the house and went around the block to calm down!


Zak’s journey in life has gone down a very different path to the one I imagined when he was safe inside me and the one I imagined before diagnosis day, but this is the journey he was destined for. If I travel that journey with him clothed in grief and sadness I am going to miss out on the beauty that the journey can give me and one day, when the journey ends, I will look back, and regret not being in the moment and not being truly present to make that journey with him.

As I tidy this blog post up and make the final edits I can hear Zak chuckling away to himself, messing around with Itunes and singing away. He is so up for his birthday tomorrow and so excited that it is contagious!

So Happy 15th Birthday Zak and here is to every other happy Birthday that I will be lucky enough to celebrate with you.

I can’t wait to see what the rest of your future holds and the challenges you beat. You’ve got this kid and I am right there with you.


Mr independent

Disclaimer : it has taken me 13 years to reach this point. It has not been an overnight process and I am not saying it is easy and in no way playing down the difficult journey we make as parents. I may also have a huge wobble tomorrow morning when his birthday actually arrives! However I will hold fast to this commitment to fully celebrate.

We each have to find our own way in our own time. Xxshakespear

Time and my race against it.

Time and my race against it.


When I was younger I used to wish time away – I was always looking to the next thing. Life was always going to be better when …

When I had my first child as a young,  unwrinkled, 23 Year old I was still wishing time away. Wishing away those sleepless nights, the nappies, the feeding but still wanting to keep those baby cuddles , to always keep that gorgeous baby smell, that closeness in the middle of the night when it’s just you and baby. The way his little hand would curl around my finger. I’m sure we can all relate to those moments the moments where you want time to stand still but fast forward to the next exciting stage as well.

If I knew what I know now I would have made more of those moments, I would have relished in the pure innocence of the first 18 months of his life.

31 March 2004 my outlook changed and changed forever. Time was not going to be a friend of mine no more. Time was my enemy. We were going to have a love hate relationship.

I was going to spend the next years of life battling to stop time , in a race against time, trying to buy more time, looking back on time, trying to make the most of every moment in time, fitting in as much as we could in the time we had.

Why the battle with time?

My first born – my gorgeous content baby boy had Duchenne Muscular Dystrophy. In a cold clinical room I heard those words, progressive, severe, fatal.  The more time that passes the weaker his muscles would become. Time is not on his side.

The ironic thing though was those first years after diagnosis my boy developed, developed in his own way and within the limits of his muscles but he certainly wasn’t getting weaker and he was learning to do new things. For years Time lured me into a false sense of security – what a bitch!

Whilst celebrating each new milestone I was trying to stop time, pause time and buy us more time. I was so busy trying to do the impossible that when I look back I really don’t think I made the most of those years, that time, when he ‘was doing well’ when he was gaining skills and not losing them. I should have taken more video , more photos.

All of those once celebrated skills are now becoming mourned for skills.

The getting up stairs was the first to go , he then struggled to get up off the floor, off a chair , walking slowed, then came the first fracture – all DMD parents dread the words fracture, casFile_000t because we know that time in a cast can be detrimental and often kids will stop walking as a result. 4
weeks and 3 days in cast and he amazed us all by walking as soon as the cast was off. In fact that was a year ago today – time hop told me so!


A few months down the line  he suffered a second fracture, and he hasn’t walked since. I waited 3 years for him to walk and wished and wished for it and he did it, he walked for almost 11 years. I know I should count myself ‘lucky’ some DMD parents never see their child walk and some children don’t walk for as long.

This photo File_000 (1)bizarrely was taken the day before he fell, it is the last photo I have of my son standing by my side.

Time is relentless stripping away what he once could do.  His arms are weakening. I won’t get into what life is like now. He is nearly 15 and deserves his privacy but whilst his soon to be 3 year old sister is gaining independence at a rapid rate he is losing his. How crap is that!

Fast Forward

Fast forward 13 years – 13 years of knowing my son has an incurable condition , 13 years of knowing the likelihood is I will need to plan my sons funeral, 13 years of hoping that if I really tried hard enough we would beat this and do the impossible, 13 years of researching what was going on in the world of DMD research, of alternative therapies, thousands spent on supplements that ‘may’ help , hundreds of hospital appointments, blood draws, scans. Countless conversations explaining the condition, battles with local authority to get what is needed, 13 years of campaigning and being involved at the heart of Duchenne research charities, 13 years – time is not my friend. Time is not on my side and whilst every day is a gift everyday is a curse….

…and I’m tired, I’m tired of fighting with time. Time has taken its toll on me – I’m no longer the young unwrinkled 23 year old. I am wrinkled , grey haired (when I’ve left my colour appointment too long) and I’m weary. There I’ve said it! I’m weary.

A year ago as we approached the 12 year diagnosis anniversary I sat all day looking out of the window, not talking, not functioning, not even thinking. Late afternoon I went out down the beach for a walk – I walked along the shore line listening to the roar of the sea and I talked to myself , the jumbled thoughts swirled around like the sand by my feet. I began to slowly realise that I was in a race that I wasn’t winning in fact I was losing and the biggest fear was it was turning into a race I wasn’t actually going to finish.

The race

Picture the race – One by one the supporters that were cheering me along from the sidelines had got bored and gone to the next thing, or had run out of things to cheer so had gone silent. The ones running by the side of me had also got weary and some had dropped out of the race altogether as the person they were racing for had gone, that’s heartbreaking running side by side with someone and then they have to stop because the pain of loss is so great. You feel their pain, you know that one day that will be you and you try to find the words to comfort them but what do you say, what can you say that could possibly make sense and help?

What started as a race, a sprint to the finish line was turning into a marathon and I was tiring. I looked behind me and saw younger runners full of strength , full of hope running behind me running at a faster pace , running like I used to run. They had a load of people at their sidelines cheering them on , giving them support, handing out refreshments. I was in danger of becoming resentful of these runners, of the promise they had, the optimism.  (I have always said I will not turn into a bitter angry parent – and I haven’t by the way)

And it was then that I realised it was time to stop running and it was time to start living. It is time to make my peace with time.  There are others behind me that are faster , stronger and have more to run for. Maybe time will be kinder to them, maybe time will be a good friend to them, maybe they won’t see once celebrated abilities turn to inabilities , maybe just maybe they will cross that finish line in time.

This last year has been one of the most difficult years of my life, but I’ve made it through. I know I will adapt to every next stage, I have to what other choice is there, plus I have the most amazing young man, a son and a friend who shows me how to adapt.

This is now our journey, it is not a race. it is a journey that we will make together, not trying to cram every thing into every day , not driving ourselves mad trying to create amazing memories, but believing that as we go along this journey, at our pace, memories will be made, moments will be had and life will be lived for as ever long as we aFile_001re lucky to live it. There will be tears and there will be joy but life will be enjoyed. No more focusing on the have not and can not but the have and can do.

I stopped the other day whilst walking the dog and I sat for 15 minutes and just listened to the birds singing , I haven’t enjoyed something like that for years! It is the simple things that give us the strength and it was then I think I realised I had come out of this year intact, or maybe its the chemical altering pills 😉

Time is so very precious – every moment , every day, every month , every year and when that time ends I will look back and celebrate the times we had not mourn for the time we didn’t.

I don’t want to get to the end and regret lost time.

Advice from an old wrinkly runner….

So to all those younger runners who are just starting off on their race, please look after yourself , remember to take in your surroundings , breathe deeply and make the most of the flat bits of the race it will help you on the uphill. I may no longer be running in front of you but I will be checking on progress and will cheer on one day from my sideline. Who knows maybe there will be a last minute dash to the finish and I will be there celebrating too!File_000 (2)
To those who have run this race with me side by side over the last 13 years, who were there when it got really tough, who celebrated and cried with me, advised and encouraged me. To those who have always had my back, Thank you. I am so lucky to have a group of DMD parents that I can call friends and I’m grateful for each one of you.

To those few people still standing on the sidelines who are cheering us on thank you for your stick ability

Lastly and most importantly for those who have withdrawn from the race because of loss, to those who no longer have their sons with them please know I am always here.

I’m truly sorry the race was not won for them.  I am truly sorry we couldn’t cross that finish line in time.