Leap for Luke 2016 – A Year in Review

I remember once when I was younger, my mum telling me about someone she knew who cried to the song Auld Lang Syne. I remember being baffled by this and thinking ‘why on earth would someone cry to that song’? The song after all represented, for me, a time of happiness, of celebration, of family and new beginnings. But how things change because now I can’t remember the last time I heard it and didn’t at least have a lump in my throat.

Each new year represents another year that we have lived without my dear brother Mark, it’s another year of watching Duchenne take its grip on Luke, another year with nothing to treat him, which ultimately means another year closer to Duchenne’s inevitable outcome, an outcome so terrifying to me that I dare not think too much about it.

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But this year, while I have no doubt I will be sitting sobbing at my TV watching the new year count down and looking over my Christmas photos of the boys, I’m determined to keep those good old meanings of new year and make it a time of happiness and celebration again. But we can’t celebrate new year without reflecting on the year that we are saying goodbye to, and what a year 2016 has been.

This year has had many ups and downs in my world as a Duchenne advocate. Delays at the beginning of the year for the 2 most advanced drugs to treat the underlying causes of Duchenne had me on tenterhooks for a while with hope fading for a treatment; we discovered that all the places were full and indeed, there was a waiting list for a trial for a new drug that could help Luke; I had a trip to Washington to help our American friends advocate for approval of Exondys 51, and while it turned out ok in the end, this was one of the most emotionally exhausting experiences of my life; and as the year draws to a close, I am still in the same position that I was at the end of last year – watching a progressive, life limiting condition take hold of my son with no real treatment possible in the coming few years.

But as 2017 dawns, I do feel more hopeful than I did last year because despite all the downs, 2016 has also been filled with positives. This year, 2 drugs were granted conditional approval and made available to boys with Duchenne (one in the US and one in Europe). Neither of these drugs will directly help Luke and when they were approved, I cried, like the floodgates have opened kind of cried! For the most part these were tears of sheer joy. For the first time ever, at least some boys would have a chance and I could actually feel the relief of the parents who were about to receive a drug that could help to prolong their son’s life, and because one of these drugs uses a technology that will help Luke in the future. It’s approval has given me real hope that I just might get a drug in time for Luke. But I must admit, and I know the parents of the boys on these drugs will understand, I also cried tears of sadness and envy (known in inner Duchenne circles as Mutation Envy), because it’s not fair that some boys have a drug and Luke, my cousin Brian Og and so many others don’t. After all, Duchenne has already taken so much from my family. Was my brother and my 3 uncles not enough?

Me and mark

This year I became chair of the Northern Ireland Council of Muscular Dystrophy UK (MDUK), giving me a real opportunity to help make even a small difference to the lives of people living with all types of muscle wasting conditions in Northern Ireland. The drug development process is very slow and there’s only so much fundraising I can do, so working to improve care for people with Muscular Dystrophy in Northern Ireland helps me to feel like I am doing something, however small, to help Luke and others. If my dream comes true and we get a drug that will help to prolong Luke’s life then maybe he will have some years in adulthood and I want to be sure that, if he does, he receives the best care possible and working with the council allows me to work towards that.

My Duchenne family has grown. This year I had the opportunity to meet many families that I had only known online before and I met entirely new families including 4 here in Northern Ireland. These people, are a huge part of my life and while I wish I didn’t know them (given the circumstances), I sure am glad I do, and I look forward to many years of continued friendship and mutual support with them. What amazes me most about these people is how they make me laugh. We are all facing exactly the same thing, all dealing with it in our own ways and maybe that gives us a special bond, I don’t know… all I know is my Duchenne family is awesome.

This year, Duchenne provided me with personal opportunities and experiences that I would never have had if it hadn’t reared it’s ugly head back into my life. I went to St James’ Palace this year and met Prince Philip; I went to an Advisory Committee meeting of the FDA in Washington and met some of my DMD heroes; my fundraising group, Leap for Luke, was recognised for it’s fundraising efforts for Muscular Dystrophy UK, and I got to meet Sue Barker. But those experiences hardly compare to how Duchenne changed me personally this year. Anyone who knew me up until recent years, will know that I am that quiet, shy, maybe socially awkward girl at the back of the room, always willing to let others take the lead, to speak up. Afraid of any kind of role that might put me on the spot, force me to talk to people I don’t know or even express an opinion. But this year, I accepted a leadership role with the NI MDUK council, I was interviewed and had 2 appearances on separate independent TV channels, I had at least 4 radio interviews, I gave speeches to hundreds of people, some of them colleagues, some acquaintances but mostly strangers, and I made my opinion known any time I had the chance. So thank you Duchenne, not for increasing my confidence, but for providing me with impeccable acting skills, now I can act confident and I think I’m pretty believable :-).

But this year has also taught me that I am just one person. I have never been as busy as I have been this year. Being a mum to 2 young boys as hard work, add Duchenne to the mix and it gets harder, add in a job and what sometimes feels like a full time voluntary role and you soon find both your time and energy dwindling fast. I know that I need to work out something that will allow me to do what I feel I have to do to save Luke and improve his future quality of life, while also being able to provide for him and then actually spend time with him and his brother. Something will have to give. I don’t know what the answer is but 2017 is the year I’m going to find it.

So as I sit now to reflect on all that has happened in 2016, I’ll take some time to acknowledge the harsh realities of the situation but I won’t focus on them. I’ll focus on the incredible successes that my fellow Duchenne advocates will achieve in 2017, I’ll focus on the difference that families, the health care team and the MDUK team here in Northern Ireland will make in improving care in NI, I’ll focus on building those friendships within my Duchenne family and I’ll focus more on my one and only goal in life… saving my son.

I’ll probably not be able to see my screen through my tear filled eyes on New Years Eve so I’d like to take the opportunity now to wish you all a very happy, hopeful and focused 2017 :-).

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When He Knows

Can you do something for me? Will you take just a minute to think of your life, your daily routine, the things you do each day, the activities you enjoy. Think of the ordinary mundane things you do that allow you to live a normal life… tying your shoe lace, brushing your hair, running to answer the door, eating dinner, hugging your loved one’s good night.

Now with that in mind, can you imagine over hearing that soon you may never walk again? How would you feel finding a piece of paper that says soon you will not be able to lift your arms to feed yourself, or hug your mum or play your favourite games? Can you imagine how scared you would be to find out that in the not too distant future, something as primitive as breathing will be impossible for you to do alone. Imagine hearing from a little child that you are so ill, you may not live much beyond the next decade! Scary huh? Now imagine that it is your child who will hear these things about themselves! Now it’s not just scary, it’s gut wrenchingly heart breaking!

When my son Luke was diagnosed with Duchenne Muscular Dystrophy (DMD) I made a promise. I promised that I would use every ounce of strength I had in me to try to save him. I promised that I would push myself to the limit to make sure that Duchenne wouldn’t take him like it took my brother and 3 uncles before him. I promised that I would make things different. I would change what having Duchenne means and that while doing that I would make sure that he was the happiest little boy on earth.

To keep my promise, I’ve told thousands of people our story. I’ve told them what having Duchenne means, I’ve told them what will happen Luke and I’ve told them that I don’t want to lose my baby. But the risk of awareness building is not lost on me and for a while now, I’ve worried about how Luke may feel when he hears snippets of information. How will I console him? How will I ease his worry and fear? And how will I keep my promise to make him the happiest little boy in the world while also raising vital awareness that will help me keep my promise to save him? It’s a catch twenty-two that I wish I could hide from. Am I wrong to create awareness? My opinion on this changes often but deep down I know that the only way I can save Luke is to tell people about him so that they will help me do all that can be done to keep him alive and well and happy.

They say great love and great achievements involve great risk. I love both my children more than life itself. I will do anything to save Luke from the clutches of this cursed disease, and I will do anything to spare Coen the heartache of losing his only brother. And so, I believe it is worth the risk and that I must continue creating awareness while at the same time silently planning how to drip feed Luke the details of his condition in a way that he can understand. Right now, Luke thinks that he is the fastest runner and the highest jumper on earth, he thinks that he has big strong arm muscles and can beat anyone in arm wrestling. He thinks that he will grow up big and strong just like any other 5 year old boy believes. He knows he has sore legs and sometimes little boys with sore legs use a buggy. He knows that some day when he is too big for his buggy, mummy will get him a cool wheelchair, and for now that is all he needs to know.

People always tell me to let them know if there is anything they can do to let them know. Well I don’t always need people to raise money or organise an event or jump from planes. What I would like to ask people today is to help me keep my whole promise. I can’t stop creating awareness. By doing so I would be giving up on the possibility that I could be part of a movement that is fighting hard to save little boys like Luke. But, you can help me by reducing the risk of the emotional train wreck that is headed for Luke and the rest of my family. You can do that by treating Luke just like any other 5 year old. You can organise inclusive birthday parties and activities so that Luke is not isolated from his friends as he grows older and his condition takes hold. You can educate your children on disability. If they know Luke personally, you can drip feed information to them that is age appropriate so they don’t drop a bombshell on little ears. If you’re not sure what to say to your children, then you can talk to me about it. While I’m not naïve and I know that I may not be able to save Luke, there is a possibility that we will and it is this message of hope that Luke will grow up with. You can help me promote this message of hope so that with love for Luke we can achieve great things.img_19361

Looking for the Positives

‘Something will grow from all you are going through and it will be you’ (Unknown)

 I’ve seen this quotation so many times recently and every time it brings me back to our journey with Duchenne and the impact it has had on me personally.

When Luke was diagnosed with Duchenne Muscular Dystrophy on 25th May 2012, my whole world fell apart. The words simply don’t exist to explain that heart shattering moment when I was told that my first born, the baby I had waited so long for, would likely die before me. That the beautiful, active toddler, sitting in front of me on that gloriously sunny day, would slowly, but still much too quickly, lose power in every muscle in his little body, so that he would no longer be able to do the things he loves, even hugging me.

And even though every day is an emotional rollercoaster and I hate Duchenne with every fibre of my being, part of my fight to prevent Duchenne from consuming me, is to actively look for and acknowledge the positive effects that Luke’s diagnosis has had. And perhaps by doing so, I can teach Luke as he grows, to also look for the positives, even though there are days when they are hard to find.

So many people I know today would not have known the old me, and those who did will likely tell you there are times they barely recognise me now. I was, and still am quiet, shy and reserved. I tended to keep myself to myself. I always let others take the lead in everything I was involved in. With the exception of delivering training as part of my job, I shied away from situations that would involve public speaking or anything that would put any kind of attention on me. My world was pretty close knit.

The way I see it, Luke’s diagnosis has added 3 things to my life that were missing before New people, Confidence and Appreciation.

Since making Luke’s diagnosis and my resolve to save him public, I have been blessed to have met some truly amazing people who have supported me along this journey. They have included friends and strangers. People from our community and further afield who have shown me the real generosity and kindness of the human spirit. And that’s not even to mention the people who have become my Duchenne family – the hundreds of Duchenne parents worldwide, most of whom I’ve never met in person but who share in this journey. In them I have made many life long friends. If it weren’t for Duchenne these people wouldn’t be in my life. And I know my Duchenne friends will understand this – I wish these people weren’t in my life but I’m glad they are.

I cannot save my son without creating awareness of his condition and actively asking other people to help me. I cannot save him without campaigning for care that will prolong his life or without advocating for access to therapies that will slow down his condition. In my quest to save him, I have openly shared my story, I’ve poured my heart out in public even though it felt totally against the nature of my personality. I’ve spoken on live radio and on independent TV channels, I’ve taken centre stage at events that provided me with awareness building opportunities and I’ve travelled alone to conferences and advocacy events throughout the world, where I had to force myself to network, no matter how hard that shy little girl inside me felt it was. Without Luke’s diagnosis I would never have had the confidence to do those thing. His diagnosis has created a fire that burns so strongly in me that Duchenne has given me the strength I need to fight it…ironic huh!!

 

Every night before I sleep, I watch my boys sleeping for a little while and revel in the beauty of the 2 little miracles I created. I’d like to think that I would have done that even if Luke didn’t have Duchenne but I know that his condition makes me appreciate the little things in life, in a way that I might not have done without it. Every single day is precious when you have a life limited child. In just a few years Luke will be off his feet and so between now and then, I take in and memorise each little pedal of his trike, each run down the lane, every nature walk. A  while after that he may not be able to hug me, so I hold tight with every hug in the hope that it will last a second longer. And after that his heart and lungs will weaken so as I watch them sleeping I listen to his breath and watch his little chest and silently ask them to promise to fight to stay strong. I must have 10,000 photos, memories made, and 2 children who know that they are loved beyond compare.

Sometimes Duchenne has little victories, moments when my guard is down and it plays havoc with my emotions but mostly Duchenne has given me strength, resolve and purpose. It has brought people into my life who give me strength, it has given me the confidence I need to beat it and it has made me ever wary of just how precious each and every day really is. So thank you Duchenne for that, but I’m still going to kick your ass!!! 🙂

me-and-sue

Donaghmore Sisters Leap for Luke

In February 2017, two Donaghmore sisters will take to the skies above Northern Ireland in a bucket list challenge that will see them jump 12,000 feet from the sky. Denise Murtagh and Alanna Collins will become part of Team100 Make Today Count, an initiative by local fundraising group, Leap for Luke, who are attempting to get 100 people from across Northern Ireland taking to the skies in early 2017, to create awareness of Duchenne Muscular Dystrophy and to raise funds for the Duchenne Research Breakthrough Fund run by Muscular Dystrophy UK.

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Both Denise and Alanna work in Dungannon Enterprise Centre along with Claire O’Hanlon, from Coalisland whose 5 year old son, Luke, has Duchenne Muscular Dystrophy, a life limiting, muscle wasting condition that leads to increasing disability and has a Northern Ireland life expectancy of just 19 years old. Denise has said ‘being a mum myself I can’t imagine what it would be like to know that my son has a life limiting condition. I know Luke, and when you see him, it’s hard to imagine what lies ahead for him. But his mum Claire is so positive and believes that scientists are at a point where they could save this generation of children living with Duchenne and we are up for anything that will help them to achieve this. Yes, a sky dive is scary business but there’s nothing as scary as the prospect of losing your child’.

The girls, who together have helped hundreds of entrepreneurs in Dungannon to start and grow their own businesses over the last decade, are calling on as many friends, colleagues and supporters as possible to either jump with them or donate to their fundraising campaign. Alanna said ‘I’m just not thinking about the actual jumping part right now, I’ll leave that to the day. I remember Claire waiting for Luke’s results and then getting his diagnosis. She was heartbroken but since then her resolve to save her son has been unwaivering. By being part of Team100 I’m hopeful that we can help Claire and other families in Northern Ireland to one day gain access to drugs that could add years to their children’s lives’.

If you are up for the challenge and want to jump with the girls all you have to do is visit http://www.musculardystrophyuk.org/events/make-today-count/  or Facebook message Leap for Luke and register for just £29 (early bird rate ends 31st October) and commit to raising £400 sponsorship which is much easier than you think.

If jumping from a plane isn’t quite your thing then please nip over and sponsor Denise and Alanna at www.justgiving.com/fundraising/deniseandalanna and give Leap for Luke a like on Facebook.

FDA Approval and Renewed Hope

Over the years since Luke’s diagnosis, our supporters will have seen me post fervently in favour of approval of Exondys 51 (previously Eteplirsen). You’ll have had me ask you to sign petitions, seen me post patient stories and even fly to Washington D.C. to help our fellow American patient advocates campaign the Food & Drug Administration (FDA) for approval. And just a few weeks ago you celebrated with me, when after a delay of 4 months, the FDA finally agreed to grant Accelerated Approval for Exondys51.

But I know that some of you have been wondering why we are so excited over the approval of a drug which is not yet available here and which will not help my son Luke or my cousin Brian Og. And the reasons relate much more to the bigger picture and the doors that approval of Exondys51 has opened both is terms of the drug development process and in providing real hope to families like mine.

In the grand scheme of things FDA approval of Exondys 51 has paved a clear pathway forward for the approval of personalised medicines to treat small subsets of patients with DMD. While Exondys51 itself will only treat around 13% of boys with Duchenne, the technology it uses, exon skipping, can be used to treat around 80% of boys by slightly tweaking the formula to target a different mutation. Sarepta Therapeutics, who make the drug have a pipe line of follow on exons, and the next in line will help Luke and Brian Og, with the trials currently recruiting in the U.S. The hope is that approval of Exondys 51 has created a more effective and efficient pathway to approval for the follow on exons, bringing real and tangible hope to a generation of boys and their families. It has shown that drug regulators are open to the approval of drugs for small patient populations based on smaller than normal trial populations when the drug is safe, and is reasonably likely to have a clinical benefit.

While FDA approval only makes the drug available in the US, patient advocates and clinicians are hopeful that approval by the FDA places the drug in a more favourable position for approval by the European Medicines Agency (EMA), and patients and charities in Europe can now lobby Sarepta Therapeutics to quickly lodge their New Drug Application to the EMA and urge the EMA to follow the FDA’s lead in providing a clearly safe and effective drug to children with a life limiting condition for whom time is of the essence.

The long and turbulent wait for approval of Exondys 51 had captured the attention of investors and Bio Pharma companies across the world and its success will likely lead to new and significant investment in the Duchenne drug development arena, not just for exon skipping technologies but for other promising therapies, which may have the potential to treat all children with Duchenne regardless of their specific Duchenne causing mutation. This can only help to speed up the drug development process and contribute to saving the lives of children and young adults affected by Duchenne.

In my opinion Exondys 51 was approved, in large part, due to the patient voice which was backed up by science and the testimony of expert clinicians, scientists and doctors. Families and parent led organisatons in the States were instrumental in advocating for the drug’s approval and even managed to organise the largest gathering of Duchenne families in history to attend the Advisory Committee Meeting in April. Such successes highlight the importance and power of the patient voice and has motivated families and charities in Europe to follow their example. They have taught us that our voice matters and that when we come together we can create miracles.

For me personally the approval of Exondys 51 is a monumental milestone in the life that has descended over 3 generations of my family. For 50 years we have watched young men in our family succumb to the devastating consequences of Duchenne with no viable treatment options. Now, for the first time ever, we have a drug that has the potential to pave the way forward for my son, my cousin and future generations of our family. It has created the possibility that my son’s life may be spared, that we may keep him on his feet longer delaying the inevitable devastating decline that he will otherwise face.

Approval of Exondys51 represents the first battle that we have won in what has been, and will continue to be, a long war against Duchenne. Neither Exondys51 nor any of the follow on exons will cure Duchenne. They will simply help to delay the progression of the condition, keeping boys on their feet longer –  maintaining independence, and staving off further complications like scoliosis, and respiratory & cardiac complications – prolonging life for patients. In reality, it will take a combination of therapies to halt progression in the long term, but approval of Exondys 51 has created the possibility of more efficient drug development and approval processes for other potential therapies and has presented opportunities for greater collaboration among the multitude of pharma companies, who will now feel that the Duchenne drug development industry in worth investing in.

Approval of Exondys51 has heightened the resolve of the Duchenne community to fight tooth and nail to stop Duchenne.dscf0460

One Day Soon

Dear parent whose child was just diagnosed

I want you to know that you are not alone. I know your despair, I feel your anger, I hear your heart breaking, I see your tears. I understand these things because I once stood exactly where you are now. I built the walls on the roads that would take me out of my despair, I cut myself off from the people who could help me, I feared the next day let alone the years that would become my future, I pondered how life could be so cruel and I wondered how I could carry on amidst the sadness that had just descended upon my world.

But four years on, I’m still living, I’m breathing, I’m smiling and laughing. I’m going to work, I’m seeing friends. When I wake in the morning I am no longer consumed with fear and sadness. And to the untrained eye, I even resemble the old pre diagnosis me.

Don’t get me wrong I still can’t look at my son sleeping and not have my heart break a little more, but my mind will quickly turn to wondering if he’s dreaming of all the fun he had today. I can’t watch him climb steps and not feel sad that he lingers so far behind his younger brother, but then I look at his face –  his only goal is to get to the top and today he did that and he is happy, so I am happy. When he tells me he wants to build houses when he’s a big boy, I want to curl up in a ball and hide from the world so that I won’t one day have to tell him he can’t – but then I realise there’s more to building houses than carting bricks, you can’t build a house without a drawing, and that he will be able to do even if he does need technology to help. And when he tells me what he’s going to do when he’s a man, I feel like I just might die there and then because I know he may not live long enough, but then I remember that there’s the possibility he will, and it’s that possibility that I focus on. I still have bad days and I still have really bad days but right now it’s mostly good days and I can live with that.

The coping mechanisms did not come easy. I had to find the things that would give me focus. I had to train myself to push the negative thoughts to the back of my mind so I could see the joy around me and understand that, with the exception of genuine fears for the future and a sadness that will always reside in my heart, I was still the same person and my son was still the same little boy he was before diagnosis. And even now I still build those walls around myself, I still cry a lot, I still worry all the time and my heart is always broken. But the walls are only ever temporary because that little blue eyed boy who calls me mummy, needs me more than I need to find comfort. He is my whole world but I am also his. I discovered that making him happy made me happy, and no matter what the future brings, if I can keep him happy, then I will be happy too. And if and when Duchenne should win this battle, only then will I even consider letting it consume me. Duchenne will not ruin my son’s life no matter what it does to me.

So parents please allow yourselves to grieve. What you feel right now is natural. Your world has irreversibly changed and change is never easy. You will live with a sadness that will always be there but I promise you will find a way to manage this new life. It may not be today or tomorrow, but one day soon, come tea time, you’ll realise that you didn’t cry when you woke that morning. One day soon, you’ll take your kids for a day out and you’ll smile and laugh with them and you will feel joy. One day soon you will have a bad day but the next day will be good. One day soon you will adjust to this life and I promise you will be happy again.

Until then, just know that you are not alone. Reach out and you will find a hand to hold and an ear to listen and an understanding soul to lean on.

Yours faithfully

Another Duchenne mum

My ‘World’s Strongest Boys’.

Those within the Duchenne Community will likely already be aware of the new brand, World’s Strongest Boys, created by Duchenne charity, Duchenne UK. But for those who aren’t, The World’s Strongest Boys campaign is designed to help raise awareness of the condition and to draw attention to the strong defiant spirit of boys with Duchenne despite their physical weaknesses.

My boys’ Strongest Boys t-shirts arrived today and got me thinking about how each of them really is the World’s Strongest Boy for very different reasons.

While Luke is clearly physically weaker than Coen, his sheer determination and will to do whatever he chooses is truly awe inspiring. To see the effort he puts in to climbing stairs, getting up from the floor, running, squeezing the play dough from his dough bakery set, and all with a smile on his face, would put any athlete to shame. Not because he can do what seems like regular things but because to him those regular things feel like what pulling a lorry or lifting twice your body weight might seem to you or I.

Coen is my other World’s Strongest Boy, because at just shy of 3 years old, he already recognises that his big brother’s needs are different to his. He is the happiest and giddiest little boy I’ve ever met even though he maybe doesn’t get the attention he should and even though he has to walk when his legs are tired because Luke’s are tired too, and even though I try, I can’t carry both of them together for very far and sometimes it just isn’t safe to do so.

Both my boys show strength in their understanding that mummy is often distracted. Sometimes the worry of raising a life limited child can be all consuming meaning that coincidentally countless hours are spent worrying, researching, fundraising, campaigning and awareness building, trying to buy time. But they never bat an eyelid, they just go with it. My boys are my heroes and more worthy of a medal than any strong athlete picking up medals in Rio this Summer.

And what’s more, as they continue to grow, so too will their strength. Luke will have to persevere through the inevitable decline that is coming. He will not be able to do all the things his friends will do. For him walking and running will be just a memory. He will have hospital appointment after hospital appointment. He will, hopefully, take part in clinical trials that will help to create a better understanding of his condition for the boys that come after him. He will struggle to sit up straight. His arms and hands will give out on him. And he will struggle to breathe on his own. But knowing his character, he will smile through it all and live his life to the fullest. His strength will keep me and everyone else who loves him going. If that isn’t worthy of a World’s Strongest Boy title, then I don’t know what is.

And Coen will make so many sacrifices for the love of his brother as he gets older. He will sacrifice time with his mum while she tries to meet Luke’s needs. I’ve no doubt there will be times he will stay home with Luke instead of going out with his friends so that his brother doesn’t feel lonely. He will miss running around the house with Luke when Luke is no longer able to do so. He will be his brothers best friend and confidante and will feel the hidden anguish that Luke may sometimes feel but will never tell his mum. But what will make him especially strong is that he will one day realise that Luke’s life will be short and he will have to find his own way to deal with that, and then one day, he will have to face the future without his only brother. I know that feeling, and it’s the hardest in the world. But my boy is made of tough stuff and another worthy World’s Strongest Boy title contender.

I’m the luckiest mummy in the whole wide world!