All posts by Claire O'Hanlon

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

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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!

A Different Kind of Bucket List

‘’Mummy are you going to die when I am still alive?’’

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These random words hit me like a bullet tonight. Luke said them to me as I was tucking him in and after I told him ‘Luke Mummy loves you so much, I will love you forever’. Of course I didn’t answer truthfully. I told him everybody dies at some time, but not until we are much older. His response was ‘all of us get old’ and I just said ‘yes darling’ and began to sing to him as I fought back the emotional wreck that was brewing beneath the surface. The truth is, that unless I’m struck down by a sudden illness or accident, Duchenne will have it’s way and take Luke long before he is anywhere near old and before it is my time to go.

But Luke’s little face was so full of concern, a concern I understood. He was afraid that one day he would lose the person he loved most in the world, the only person who can give him the comfort he needs, the person he thinks about when he feels down, the one he wants to tell all his exciting news to. The brief conversation not only saddened me but made me kind of angry. For Luke, this was a fleeting thought, but I think of the day I will lose Luke every single day. It causes worry and stress and sadness. How dare Duchenne creep in to every little crevice of our lives, tainting every memory and every smile with a hidden heartache? Sometimes I wish it were a tangible thing so that I could punch it, and kick it and scream at it and tear it to pieces just like it has done to me and my family.

But I can’t do that so instead I’ll make a personal bucket list – Not the kind that sees me scaling Mount Everest or spending a week on a deserted island. Instead it’s the type of bucket list that will see my family develop special bonds and memories, things untouchable by Duchenne. No doubt this list will be added to as the years go by but I imagine it will include things like:

  • Rolling in the mud with my boys until not one piece of clothing or flesh can be seen through the mud
  • Enriching my boys lives with so much fun that at least once a week we all laugh so hard that we can’t breathe
  • Telling my boys every single day that I love them, that they are magnificent and capable of anything and that I am proud of them so that as they grow they will have faith and confidence in themselves so that they believe they can achieve anything they set out to do
  • Find a miracle in everyday life so my boys grow up seeing beauty and love in the world
  • Finding a way to push Duchenne to the back of my head during the day so I can really be here in the moment with the boys, never missing a second of the love and joy they bring into my life
  • Taking the plunge and giving up my job to force me to find new ways of providing for my family that allow me to not only spend more quality time with them but that also include them

These are just the first few things that popped into my head but I look forward to completing this list and maybe tomorrow I’ll ask the boys to help me add some more items.

Duchenne might fight the hard fight and will win in all likelihood but my boys and me will put up the good fight too and will have fun doing it. It’s not that we’re stubborn or anything lol.

What if I Blink?

‘Sometimes you will never know the value of a moment until it becomes a memory’ (Dr Seuss).

Tonight I lay in bed singing my little boys to sleep – dear love them I haven’t got a note in my head but they love it. This is nothing new, I do it nearly every night. But tonight as I lay there croaking my heart out, I was reminded of how Mark and I would have lay in our mum’s bed some nights as she sang ‘Big Empty Bed’, a song Mark always wanted her to sing. With the exception of the song lyrics I remember much about those nights… the warmth of mummy’s bed, the feeling of comfort, the ‘not a care in the world’ feeling that only a child can experience. Those nights seem like just a blink ago and somehow here we are 30 years later. It got me thinking about how precious time is, and of course the thought of time always brings me to the dreaded reality of how limited my time is with Luke.

In just a blink those ‘lying in mummys bed nights’ were over, I became  a teenager, I lost my brother, I turned into an adult and I became a mum. And that makes me ponder all the blinks that I will take as Luke grows up.

My Luke just loves being active, I would need eyes on the back of my head. But what if I blink and he can no longer run outside with his little brother? This thought makes me want to wake him right now, take him outside and run around with him until he falls asleep on the grass.

What if I blink and he can no longer lift those little arms to catch a ball, or wave at his granny or lift an ice cream cone to his mouth or hug me? What if I blink and the only thing he can do with his upper body is push a light touch button that sits right next to him?

What if I blink and his lungs can no longer work on their own and even a regular cough becomes a deadly enemy?

These things I can handle. I would carry Luke bare foot to the ends of the earth and back if he said that’s how it ought to be – yeah he is spoiled – so what? No physical disability will ever stop me from making my little boy feel happy and valued and capable of achieving anything he wanted. My love for Luke and his love for life will help us to conquer anything this wreckless, unforgiving disease can throw at him. We will throw it back even harder.

But I know Duchenne too well. It has haunted us for years. We have looked it in the eye so many times and have never even come close to defeating it, we haven’t even managed to wound it. Without a miracle Duchenne will take my son. It will leave Coen without a brother and will leave an unfillable void in so many lives.

My most fearful thought every day is what if I blink and that little heart that I have nourished, so full of love can no longer sustain life in his little body? What if I blink and I’m standing at his graveside? How do I move on from that blink?… I couldn’t!!

I know that I should live in the present and not let worries of the future interrupt my life. But these fears, to me, are acceptance, or at least my version of it. I accept that Luke has Duchenne, it took me a while but I got there. I accept that he will become severely disabled. I accept that his body will give up piece by piece. I accept that I will have difficult questions to answer from both Luke and his brother. I accept that Duchenne is not going away. I even accept that a cure will not be found in Luke’s life time (we’re aiming for a treatment not a cure – something to transform DMD to a chronic condition instead of a fatal one). But I cannot accept that Duchenne has some God forsaken right to my son’s life. It is his life and I will do whatever it takes to make sure that he is in control of that life not Duchenne. The fight will be long and hard but I am in no mood for giving up.

So from me Duchenne… Do One!!!!!!!!!!!!

Life is

 

Even Against the Greatest of Odds

‘Even against the greatest of odds, there is something in the human spirit, a magic blend of skill and faith and valour, that can lift men from certain defeat to incredible victory’ (Walter Lord Author)

Children and young adults living with Duchenne face certain defeat from a condition that will take their lives each and every time. But this week I was lucky enough to be reminded of the skill and faith and valour of a community of Duchenne patients, families, clinicians and scientists who are dedicated to lift the curtain of certain defeat by slowing or stopping Duchenne in its tracks.

Monday’s Advisory Committee meeting with the FDA was a difficult day for the Duchenne community as they listened to what is the predictable outcome of Duchenne then heard how a group of boys who had been receiving Eteplirsen for a period of 4 years had not only stopped getting worse but had in fact started to regain skills that they had lost: Aidan Leffler went from falling 2-3 times a day to not falling at all; Dr Anne Connolly a neurologist at Washington University said she would have classified her patient with the milder Becker Muscular Dystrophy had she not known him and the progress of his condition prior to his enrolment on Eteplirsen; we saw video diaries of boys gaining the ability to climb into their parents car unaided, we watched video footage of a non-ambulant, 16 year old Austin Le Clair lift his arm over his head, reach into  a backpack on the back of his chair and transfer himself to bed – skills he had lost some years ago.

We heard Duchenne experts – clinicians and scientists –  describe their findings: We heard Dr Elizabeth McNally (Director at the Centre for Genetic Medicine, Northwestern University) describe a ‘clear difference between treated and non treated’ and how ‘any increase in Dystrophin is beneficial’. Dr Lou Kunkel, Professor of genetics and paediatrics at Harvard medical school, said of the Dystrophin produced ‘0.9% is a remarkable amount, there is no reason not to approve’. We heard Dr Perry Shrieh, MD PhD Neurophysiology, Neurology and Neuro muscular Medicine, stress that the data is positive and he sees no reason not to approve.

But such positive outcomes from patients and expert advice was blatantly ignored by the FDA who provided misleading arguments for the non-approval of Eteplirsen. Eric Bastings, MD Deputy Director Division of Neurology and Drug Products with the FDA said ‘We are a science based organisation’ but yet they fail to take the advice of experts in the field. His colleague Ronald Farkas argued that ‘kids could walk if they put their minds to it’. Such utterances only serve to iterate that the FDA is not an expert on Duchenne – if only maintaining the ability to walk were a choice. If only he could see how hard the boys try to stay walking, if only he could understand the impact that losing that ability had on a life, perhaps then he would base his arguments on science and not simply on mere speculation that the boys in the trial perform better because they are ‘more motivated’ (his words not mine).

The outcome of Mondays meeting was a crushing defeat for the entire Duchenne community. For me it was like diagnosis day all over again as I was forced to accept that the reality that in all likelihood I will bury my son. Rigid practices by regulatory authorities and an unwillingness to hear expert testimony and personal experiences will continue to make it impossible for any rare disease drug to make it to market. Throughout our Duchenne journey I have always tried my hardest to ensure that hope takes precedence over my fear of what Duchenne will do to my son and to stay positive but I will admit that on Monday evening, my hope shattered and no matter how hard I try I cannot find the words to describe that feeling.

But losing hope isn’t an option and so I will resign myself to the fact that the fight for Eteplirsen is not over yet. The FDA will make their final decision on May 26th and in that time we appeal to Janet Woodcock of the FDA, and ultimately the key decision maker, to urge her team not to make what she calls a type 2 error and describes as perhaps the most dangerous error the FDA can make i.e. failing to approve a drug that works. Janet herself questioned the integrity of the voting questions put to the panel, which ultimately led to a no vote. Ms Woodcock, we urge you to recognise the testimony of Duchenne experts with decades of experience in the natural history of the progression of the condition and listen to the patient voice. The Duchenne community is not a group of desperate parents who will try anything, we want safe and effective treatments for our children. We want treatments endorsed by experts and that will change the course of the disease and will improve our children’s quality of life beyond measure. Eteplirsen does just that. It has a perfect safety record, experts attest to it’s efficacy and the boys on the trial are living proof that the drug works. Our scientists have the skill, our doctors have the faith and our boys have the valour to lift our community from certain defeat by Duchenne. You have the power to help us and the potential to save a generation. Please do the right thing.

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Steroids have the potential to keep Luke walking longer