Monthly Archives: October 2016

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

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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.

jumping-002

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