All posts by Claire O'Hanlon

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

Eteplirsen, the FDA and Us

This morning I kissed my 2 sleeping little boys as I crept around the house before the crack of dawn getting ready to leave them for 4 days, longer than I have ever left them before. And I have to admit my heart is a little anxious. But my reason for leaving is necessary. Because for the first time since Duchenne entered our family over 60 years ago, we have an opportunity to be a part of history, a part of a movement that will push through a treatment with the potential to help slow the progression of Duchenne in around 80% of patients (Eteplirsen will help 13% but follow on drugs will help up to 80%), to show that the patient voice matters and to let regulators see that following archaic practices of drug development for rare diseases simply does not work and is in fact immoral, unethical and unjust. Especially given that the drug in question has an impeccable safety record and has been endorsed by 36 Duchenne experts, clinicians who have seen thousands of Duchenne patients, to have shown significant efficacy in slowing the progression of Duchenne in all the boys who have been receiving the drug in trial for the last 4 years.

Around two thirds of Duchenne cases are caused by a deletion of one or more pieces of the Dystrophin gene, meaning that children with Duchenne cannot produce an essential protein, Dystrophin, which is vital for muscle repair. Without Dystrophin, every muscle in the body simply wastes away, leaving patients like Luke paralysed and at severe risk of heart and lung failure. Eteplirsen is the first in a pipeline of drugs designed to ‘patch over’ the missing piece, allowing the body to produce a small amount of Dystrophin, but a tiny bit of Dystrophin is all that is needed to slow muscle damage and to add years to the walking ability of children with Duchenne. Which in turn adds years to their life expectancy.

Eteplirsen won’t help Luke and even if campaigners are successful in getting it approved by the FDA, it will only be available in the U.S.A. so why is it so important to us that it is approved?

The technical answer – Approval of Eteplirsen by the FDA will be a monumental step forward for the entire Duchenne, and in fact, wider rare disease communities for many reasons. Firstly, Eteplirsen is simply the first in a pipeline of drugs being made by Sarepta Therapeutics that use exon skipping technology to treat the underlying defect causing Duchenne. Together this pipeline has the potential to provide part of a cocktail of treatments for around 80% of Duchenne patients. If Eteplirsesn is not approved by the FDA, it will put paid to the hopes of hundreds of thousands of families who will witness the failure of the most advanced potential treatment for Duchenne, a 100% fatal condition for which there are no treatments. This failure will be made all the more heart breaking, given that the treatments works – it meets its primary objective of slowing the progression of Duchenne.

Secondly, the failure of Duchenne experts and families to convince the FDA of the efficacy of Eteplirsen will deter the bio tech industry from investing in research for Duchenne and many other rare diseases. After all, while the trial population was small, the drug has a perfect safety record and of the 12 boys who started out on the trial over 4 years ago (chosen specifically because their condition was deteriorating rapidly and they were likely to come off their feet imminently), 10 are still walking compared to a comparable group of Duchenne boys not receiving the drug and where only 1 out of 11 is still walking. If a drug like this can’t be approved then why should drugs companies spend millions developing drugs that work but that will never see the light of day?

Thirdly, the FDA have a moral duty to put patients before process. The FDA continue to use drug development processes implemented decades ago. These processes do not allow for innovation in medicines and certainly don’t create a platform for the approval of new innovative, personalised medicines, the only medicines likely to pave the way forward for hundreds of lethal rare diseases. By not granting Accelerated Approval for Eteplirsen, the FDA will be showing the world that they want to continue to live in the dark ages and their decision has the potential to deter a generation of innovative and life saving medical research.

The Duchenne population is limited, and these limitations are even more restricted given the personalised nature of exon skipping technology, so traditional trials consisting of hundreds of patients half of whom are on placebo is simply not an option. Who in their right mind would put their child through years of clinical trial procedures and painful risky muscle biopsies if there was a chance that all they were getting was water? Duchenne is a muscle wasting condition remember, these kids have little enough muscles as it is.

Fourthly, the approval of Eteplirsen will create a clear, transparent and usable way forward for future personalised medicines and will lead to an accelerated pathway for follow on exons, putting life saving drugs in the hands of children before it’s too late. Especially considering that there are no drugs in development designed to reverse the effects of Duchenne. Time is life in this situation.

Even though FDA approval will only make the drug available in the U.S.A, it’s approval there may make it more likely to be approved in Europe by the European Medicines Agency (EMA).  Approval will allow patients to work with Sarepta Therapeutics and the EMA to ensure that approval is granted as soon as possible and will bolster the argument of patients, advocates and families that the EMA should use accelerated pathways to approval, not just for Eteplirsen but for follow on drugs as well.

My ‘real life’ answer  – As I fly off today, I am filled with apprehension, nerves and excitement. Apprehension because I am all too aware that we may not be successful. Nervous because travelling alone to engage with a huge group of people is so far outside my comfort zone, and excitement because I can feel the enormity of the situation and I have an opportunity to be a part of history at the largest Advisory Committee meeting the FDA has ever seen.

Duchenne has broken dozens of hearts in my family, it has taken 4 boys from us including my only brother, and threatens the life of my son and my cousin. It has caused countless tears and sleepless nights, it has taken over my life and on a positive note it has perhaps moulded me into the person I am today. Someone who has had enough, someone who simply can’t sit back and take it anymore. It has given me my fight. But I wouldn’t have that fight if it weren’t for the promise of a treatment.

Eteplirsen simply has to be approved. Exon skipping technology has the potential to save Luke’s life. We are lucky in that the exon he needs skipped is next in the pipeline with trials having already started in the U.S.A. Eteplirsen’s approval will, in all likelihood mean Luke could have a treatment before he loses his ability to walk. The promise of exon skipping has been a life line to me since Luke’s diagnosis. It has been the one thing that has kept my hope alive and it is that hope that has given me the drive and passion to carry on knowing what the future holds for Luke. I spend countless hours researching, fundraising, campaigning, building awareness, all because I want to tell Luke that I tried. I want to teach him to never give up, to persevere, to push for what he wants in life but if Eteplirsen, and indeed the whole exon skipping technology, the most advanced potential treatment for Luke and that is still some years away, is refused approval, then I wonder where the hope will come from. I have no doubt that I will see a viable treatment for Duchenne in my life time but failure of Eteplirsen could mean that it will not come in Luke’s life time and that is a bite that is just too hard to swallow.

So to the FDA, I say look at the facts, the drug is safe and effective and 4 years of data and the real life experience of the children on the trial for 4 years prove that. The potential to save or indeed extend the lives of thousands of children is in your hands, don’t let your need to stick to rigid and archaic processes trump the lives of children. Don’t say that a generation of research has been wasted when this drug works. Don’t shatter the hopes of families with children with rare disease all over the world because you feel you can’t back down. See the real picture, listen to patients and families and do the right thing.DSCF9279

A Birthday Promise

‘I’ll love you forever, I’ll like you for always, as long as I’m living, my baby you’ll be’ (Robert Munsch)

This is one of my favourite books to read to my boys, and it was the one Luke chose to read last night and the timing could not be more relevant.

Tomorrow, that crazy little boy I’ll love forever and Like for always, the one that made all my dreams come true when he made me a mum, will celebrate his birthday. I just can’t quite believe that it’s been 5 years since I first cradled that little 9lb 1oz bundle of love in my arms. Since my heart completely and totally belonged to the little boy who would grow to call me his mummy.

I think for most mums, birthdays bring a melting pot of emotions, they are happy and proud of their growing children but realise that childhood is short, and soon, their little ones will be all grown up. But when your child is life limited, birthdays become so much more significant and seem to come around much too quickly with each passing year.  Luke has had 5 years of muscles wasting, 5 years waiting for a treatment. He’s more than half way to the age that most boys with Duchenne become wholly dependent on wheelchairs, he’s 5 years closer to needing 24 hour ventilation just to keep him alive, 5 years closer to not being able to lift his arms to hug me, and 5 years closer to the inevitable end that Duchenne always brings.

But he is just like any other little 5 year old excitedly waiting for his big day. In his pure and perfect innocence Luke, my little sugar monkey, says all he wants for his birthday is icing (yip the cake topping lol). But my birthday gift to him will be much more than icing or the super cool go kart that he has recently learned to pedal. My birthday gift is a promise – a promise to always love him; a promise that his happiness will always be more important than my sadness over how Duchenne will impact on his life; a promise to renew my resolve to do whatever is in my power to make him proud, to keep him on his feet, to make sure he has the best chance at life. To keep his lungs breathing and his heart beating. And above all, a promise to give him as normal a life as possible. I promise to tell him off when he’s naughty and teach him right from wrong. I promise to teach him the value of life’s most important things – friends, family, love and hope and I promise to try my best to give him the independence all kids need when growing up and to teach him that dreams are worth fighting for – even the dreams that seem almost impossible.

While the last 5 years have moved Luke closer to the inevitable consequences of Duchenne, they have also been filled with wonderful happy memories. I’ve had 5 years of cuddles, and giggles, and little boy chats. 5 years of tripping over Thomas the Tank Engine trains and toy dinosaurs and I’ve watched the movie ‘Cars’ more times that I would want to count and I’ve loved every second of it.

So to my baby boy on your birthday, I promise to love you forever and like you for always. I will do whatever it takes to make you happy and to give you many many many more happy birthdays.

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Making Today Count

‘Happy are those who dream dreams and are willing to pay the price to make them come true’

 I first read these words yesterday. They were written across the top of the certificate I received for completing my first ever completely terrifying, amazingly exciting tandem skydive at the Wild Geese Flight Centre. The event, the occasion and the significance of the date were all part of my ‘paying the price’ to make my dream come true. You see I have a dream, one that I will never let go of, the one thing that takes precedence over everything else in my life. It’s a dream that has pushed me to do things so far outside the comfort zone of the shy girl that I am, that I can no longer see the zone, a dream that is so close to being real but so far that it may not happen in time. It will be no surprise to those who know me and our story, that my dream is to end Duchenne Muscular Dystrophy (DMD), to bring to an end the trail of destruction the disease has wreaked through 3 generations of my family, the condition that made my grandmother bury 3 sons, 2 of them only 10 days apart, the condition that took my brother from me, and that threatens the lives of my son Luke and my cousin Brian Og.

I completed my Skydive as part of the Make Today Count team for Muscular Dystrophy UK (MDUK). The project aims to inspire people to make use of the extra day in the Leap Year by taking to the skies over one weekend to raise funds for the Duchenne Research Breakthrough Fund, a fund that I believe will pave the way for my dream to come true.

Ever since I was a young child I was fascinated by the notion of the leap year and was always excited to hear of someone who had their birthday on that day, but I never would have imagined just how significant that date would be in my life. At 5.07am on the cold morning of February 29th 1996, my only brother, my best friend, my side kick, took his last breath. He had lived with DMD for 16 years, 1 month and 9 days. He gave it all he had but, just as it always does, Duchenne won. Mark’s passing left a sadness in my life that will only be known by others who have lost a sibling, especially one so young. There have been so many occasions in my life where I have missed him beyond measure, especially following the birth of my children and the diagnosis of my son Luke with the same condition. But as Mark’s 20th anniversary approached I was adamant that, while there may be tears shed for him, this anniversary would be a celebration of his life. It would be an opportunity to do something crazy, something he would find ludicrously hilarious. For this anniversary I wanted to remember him laughing and not the events leading up to his passing. So together with 10 friends, I signed up to Make Today Count and braced myself for the adventure.

I will admit I was petrified. The only time I ever remember being so scared was when I was on my way to the hospital to see Mark before he died. As the plane door opened at over 10,000 feet I think my heart might have leapt straight out of my chest if it wasn’t for all the parachute equipment. But taking that leap from the plane was absolutely exhilarating. I was so overcome with emotion that I wanted to cry but all I could do was laugh and admire the beauty of the countryside below me as I said ‘well our boy, I did it’ and I could just imagine him cheering me. The event and Mark’s anniversary, which coincidentally coincides with World Rare Disease Day 2016, is an opportunity for me to remember my brother and strengthen my resolve to make my dream come true.

The price of my dream is a hefty one. It’s one that will push me to my limits, will take precious time, it will pull at my already broken heartstrings, it will take tears and setbacks and many years of fighting but can you imagine how happy I will be when my dream comes true? And it will, it has to!

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mARKS ANNIVERSARY 20002

”Duchenne, My boy will never be yours”!

Duchenne you have taken so much from me, my only brother, the opportunity for me to know my uncles and the opportunity for my boys to know theirs, maybe some of my hopes for the future but I assure you Duchenne my boy will never be yours.

You may waste his little muscles so that even getting off the floor is a chore, but I will have taught him the value of perseverance so that he will try and try and when he is no longer able he will not question his own resolve and you will not win.

You may stop him walking, running, swimming, all the things he loves, but I will have taught him the art of adaptability so that you Dear Duchenne will not win.

You may stop his little arms from hugging me but you cannot stop me from wrapping his arms around my neck and squeezing him so he knows that even if he can’t hug me I will never stop hugging him and he will always know that he is loved, and you will not win

You may take his ability to be active in a way that only teenage boys can, but I will have taught him values that he will seek in others who will become his friends so that he will always have a friend who will stay with him, he will have friends who adapt their plans to include him, he will never be alone and you will not win.

You may fill his life with the monotony of hospital and therapy appointments but I will fill the rest of his time with enjoyment and love so that these things you put him through will just be minor blips in an otherwise perfectly happy life and you will not win.

You may take his ability to move freely, but I will have taught him determination in spite of his challenges and together we will find ways for him to maintain his independence so that you will not win.

You may make it difficult for him to breathe and quash his tiny lungs but I will manage his care with such love that such things will not impact immensely on his quality of life and you will not win.

And even when you take his last breath and stop his heart from beating you still will not win. You see, he and I are connected by the soul and you can never touch his soul. It is pure and perfect and beautiful. And while I may despise you for the hurt that you have caused, I will teach my son to love you because you are a part of him and he is indeed pure and perfect and beautiful.

Duchenne, I know that you will be relentless in your fight and you will one day take him from me, but just know that I will fill his life with love, his heart with determination and his soul with such compassion that even though you may slowly take his body, my boy will never be yours.

Sometimes

If I were a boy…

‘If… a little word with a big meaning’

Obviously I am not a boy and some may argue that it is pointless to imagine how things would have been if I had been born male but I must admit that many times over the years I have pondered how different my life would have been if that had indeed been the case.

Not to start into a science lesson or anything but, as a carrier of Duchenne Muscular Dystrophy I have a faulty ‘x’ chromosome – its missing 2 little pieces. If my other perfectly healthy ‘x’ chromosome had been a ‘y’ I would have been born a boy and those 2 little missing pieces would have had explosive consequences for my future.

If I were a boy, I would have never pedalled my first bike, never climbed a tree. I would never have won a race or helped my mum with heavy boxes. I would never have played dodgeball, or skip or tag in the school playground. I would never have been able to jump – I mean clear air between my feet and the ground jump. I would never have enjoyed days of jumping off the sand pits at the back of the clay factory with my friend Aisling (risky either way lol). If I were a boy I wouldn’t have got the regular bus to school with all the other kids. I would never have felt the sheer exhilaration of dancing my heart out, arms waving to ‘sexy eyes’, my favourite song in Clubland as a teenager.

If I were a boy, I would never have done these things because it is a scientific certainty that those 2 tiny little missing pieces on one little chromosome would have given me Duchenne Muscular Dystrophy and the tiny muscles in my body simply would not have let me. I was born in 1981, the very cause of Duchenne would not have been found for another 6 years, I would have had little hope of a treatment and like most boys with Duchenne at that time, either my heart or my lungs would have given out on me and my life would have been over by my mid-teens.

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Me and mark

That would have meant that I would never have had the opportunity to go to University, to work the same old fast food restaurant and shelf stacking jobs that are almost a rite of passage for most students. I would never have been able to grow into a completely independent adult. I would never have experienced having my heart broken by what I thought was my first love. I would not have met some of the amazing people that I have met in recent years. I would not have trekked the Sahara Desert, would never have known the sheer joy of having children. I would not have known nor could I have ever imagined the technological world that we live in today. I would not be your friend on Facebook, you would never have had a text from me, I would never have dropped you an email to say hi, or taken a selfie in some random place. I would not have known the colleagues I work with today nor those I have worked with in the past, I would not have known many of the friends I have today. If I had been born a boy, my life would have been snatched from me before it had even really begun and the very thought makes me grateful for every experience I have had in my adult life.

I would never have had the opportunity to play my role, small though it is, in helping to end Duchenne once and for all. To try to make sure that being born a boy, with 2 little missing pieces of chromosome, will not mean that a kid’s life will be ended all too soon.

If I were a boy, I would not be here today. My parents would have buried 2 children by now and my sister would be an only child. I don’t even want to think about the impact that that would have had on their lives.

Those 2 little missing pieces caused the loss of my brother when he was only 16 years, 1 month and 9 days old. I was born a girl, a carrier girl with 2 little missing pieces but I get to live my life. My first born son now is missing those 2 little pieces but I will fight to the death to change the currently catastrophic consequences that they will have on his life.

A year of Possibilities

With the new day

And so it’s time to celebrate the ending of one year and the beginning of a new one. Some will be glad to see the back of 2015 and relish in all the possibilities that 2016 may bring. Others will welcome the new year with a sense of fear and dread, a sense that time is moving too fast when there is important work still to be done. But hopefully, most will enter into 2016 with a renewed sense of hope – hope for strength, for courage, for the health of a loved one, hope for abundance or hope for change that will create happiness in their lives.

For me, the dawning of the new year is really no different that the dawning of each new day, each new week or each new month. For every day I rise to the same thoughts and questions – will I notice decline in Luke’s condition today? How can I use today to give my boys as normal a life as possible despite Duchenne? When will we have a treatment? Will I be able to save my son?

Luke has a terminal illness, one for which there are no cures or treatments. It is a condition that will see him get worse over time, not better and one which will eventually claim his life. While most look to the future and envisage their children growing up and becoming more independent, more able to do things for themselves, we face just the opposite. Each year will see Luke become weaker and more dependent as he loses the ability to do the things you or I take for granted, things like walking, hugging, feeding himself and breathing. The stroke of midnight tonight will not magically change that. Tomorrow I will wake up and my thoughts and fears will be exactly as they were this morning.

And while I understand this fact, I must also relish in the possibilities that can be created in 2016. It holds the possibility for the approval of 2 new Duchenne (DMD) drugs by the FDA in the U.S. and the availability of Translarna, the first ever drug for DMD to be approved by the regulatory body in Europe , on the NHS. None of these drugs will help Luke but their approval will help pave the way for a pipeline full of new drugs that will help Luke.

It holds the possibility for trials that Luke may be able to take part in. Trials that will allow him access to medicines which might help to slow the progression of his condition. It holds the possibility of better understanding of DMD among health professionals which will lead to greater care, greater quality of life and ultimately a longer life for DMD children. It holds the possibility that there may be more good days than bad, it holds the possibility that Luke will have another year where he doesn’t realise he is different and where the effects of his illness are minimal on his day to day life. It holds the possibility that we can change what having DMD means, that it will no longer be a death sentence but merely a chronic condition that with adequate care can be managed.

The attempts to create these possibilities are being carried out on a global scale by families and clinicians all over the world who are determined to make our boys the first generation to survive Duchenne and as the new year looms I renew my resolve to:

  • Play my part in ensuring new drugs are approved
  • Educate myself in all areas of the care and management of Duchenne to ensure the highest possible quality of life for Luke
  • Help other families as they struggle to come to terms with a diagnosis of Duchenne
  • Create awareness of DMD among individuals, communities and health professionals
  • To be first and foremost mummy to my precious children

 

And just as importantly, I resolve to never forget the help and support that we have received. Support that has allowed us to contribute over £50,000 to Duchenne research over the last 3.5 years, support that has given us the strength to deal with the condition on a daily basis and support that has given me the determination and resolve to end Duchenne once and for all. From the bottom of my heart I am eternally grateful for this support and I will continue to be grateful for all the support we receive in the year ahead.

And so it is with a hopeful heart that I wish you and yours a peaceful and happy new year. May your health be in abundance, may you measure your wealth by the love shown to you and may your happiness be ever plentiful.

Here’s to hoping for miracles in 2016 xxx

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Just a Little Boy, No More, No Less

hold him a little longer

It’s so easy to focus all our energy on how ‘special’ Luke is. Special, not just because he and his bother are more precious than anything in this world to us, but because of the life that he will live and the challenges he will face, in what will likely be a short life. But what’s more important than his ‘special’ needs, is the need to recognise that Luke, at heart, is just a little boy, no more and no less.

Like most 4 year olds, he makes his mummy laugh, he makes me cry, he drives me crazy and shows me what is really important in life. Just yesterday I found him peeing on my coffee table and laughing his heart out at how naughty he was for doing it –  yes, he was punished, but my goodness it was funny. All 4 year-old boys do that, right?

Maybe I shouldn’t mention how he let us down a bucketful the other day by telling his teachers he said the ‘F’ word in the car on the way to school. (He didn’t hear that from his mummy lol). Now he even manages to pull a chair over to the bench and climb up to get the sweetie tin and help himself to as much of the contents as he can before I catch him. He and his brother fight ding dust but they also kiss each other good night and sometimes even share. Being a little boy means he’s a little explorer. Every nook and cranny of every little thing has to be explored in great detail and if something should be broken, well by golly it’s time for him to get the tool box out and fix it. As a typical P1 pupil, he never tells us what he did in school and just the other week said ‘that’s enough talking Granda’ when his he tried to ask him about it. Like most little boys his hands are always sticky, his face covered in food, he has ice cream in his hair, and juice spilled down his jumper.

He wants to drive a motorbike and be a farmer with a John Deere tractor. He loves to do ‘jobs’ no matter how big or small – he might need to mow the grass, or plant a tree, or use his screw driver to fix the door hinges. His favourite question is ‘why’ and I usually have to make up the answer because the question is so random. He loves outside and mud and water, and all 3 together is even better.

He’s impatiently waiting for Santa. he believes in the tooth fairy and the boogy man, and fairies and any other mythical creature we tell him about.

He’s a typical little boy who is madly in love with his mummy, he still plays with my hair when he needs comfort, he never wants me to go anywhere and he spoils me with endless kisses and hugs (please tell me that bit doesn’t ever end ).

Luke doesn’t know that he is different. He doesn’t know that he will never drive that motorbike or be a farmer. He doesn’t know how much he will one day depend on the brother he fights with. He doesn’t know that in a few years he won’t be able to carry that tool box, or cut the grass or even have the strength to turn the screw in the hinge with his screw driver. He doesn’t know that in the not too distant future he won’t be able to stand up and pee on the coffee table lol. He doesn’t know his days of playing in the mud are numbered.

He just knows his name is Luke O’Hanlon and he is 4 and life is so much fun. And that is just how we want him to think. And so you see, Luke might have tough challenges ahead but just being a little boy is way more important than all of that for now. He’s a son, a brother, a grandson, a nephew and a cousin. He is all these things before he is a Duchenne patient.

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My London Taxi Driver and Time

This past weekend, I went to the Action Duchenne Conference in London, learned a little and met a lot of lovely interesting people; members of my Duchenne family that I have spoken to often but have never had the opportunity to meet. But even with all that went on over the weekend, the thing that has me thinking the most since I came home, is the conversation I had with the driver of my black taxi on the way to the conference on the first day.

The driver was a lovely, chatty man, who sounded like he had just walked straight off the set of Eastenders – The type of conversationalist who wants to know where you’re going, what you’re doing there and why you’re doing it. So with plenty of time to chat while sitting in the London traffic, I told him all about Duchenne and Luke and my family history. He told me that one thing that should come out of it all is that while most people are so busy with life, they forget to treasure each and every moment with their children, I would never do that and that I probably am always aware of how precious time is with my kids and probably do more with them because of it!!

I’ve been pondering this for days and I have to say I’m not entirely sure that I do. I know that I should, I know that each and every second is precious with both my children. But do I really realise the gravity of the situation?

For 3 days a week I leave my children to school and to their granny’s. I don’t see them again until after 5 and then I’m so busy with making dinner, ironing clothes for the next day, doing homework, cleaning up and getting the boys ready for bed, that for those 3 days I barely stop to think that I will never get these couple of hours I have with my boys back. No different to most working families except most, thankfully, don’t have a life limited child. Could I really do that if I fully recognised just how precious my time is?

When I’m not working for a living, my head is always so consumed with all the things I am doing to save Luke – fundraising, researching, campaigning, creating awareness…  that I wonder am I spending so much time trying to save him in the future that I forget to live for the moment and enjoy him today. And by doing that am I robbing him of opportunities to have lived a full life with so many happy memories that, when he finally succumbs to Duchenne, he will take his last breath having lived a full life where he was encouraged to achieve everything he wanted to?

For all mums, splitting your time between working and raising kids is tough, add all the stresses of raising a sick child, fundraising, hospital appointments, medicines, researching all the ways you may be able to help your child, acknowledging and dealing with the fact that in reality you may not be able to save him, having to fight for higher standards of care that could add years to your child’s life, and the pressure of trying to create an image of ‘business as usual’, then how do you possibly find the time to make the most of the time you have?

Part of my paid employment is to encourage women into self employment/ employment so I have read the research and understand the benefits that having working mothers have on a child’s development. I have a great education and I don’t want to waste it but I really struggle with justifying the time away from my boys when one of them is on a timer. Soon he won’t be able to climb, or get off the floor, or walk, or breathe for himself. And sooner than I would ever want, this disease will take him from me. I have been lucky in that my employer has been immensely supportive of my needs as a special needs mum, but I just can’t help but feel that if I have to work, I really should be doing something that will add more meaning to my children’s lives. I should be doing something that in my heart I feel adds value to the lives of the people around me – in my home, my family and my community, while also allowing me time to actually live life with my children.

I don’t know yet what the solution is. But I know that my focus now is to work on finding that solution, something that will allow me to make use of my education and skills to provide for my children while also giving me the opportunity to fully realise the value of every second with them.

The driver of my black taxi will never know it but he has been a major player in my new ambition to change my life, to acknowledge the priorities and to dedicate myself to ensuring that both my children – my life limited son and my healthy son who will also grow up dealing with the affects of DMD on his life, have a fulfilled life, one where they are encouraged to dream big, achieve big and love big.

life is like a camera

Steroids – one year on!

Exactly one year ago today, Luke’s consultant made the decision that the time was right to start Luke on steroids. There would be tests etc to do first but the decision was made and steroids would become part of our lives in just a couple of months.

I’ll admit, I didn’t take it very well and it would be months before I would fully accept it. I thought we would have had at least another year to prepare for this next stage of our Duchenne journey and to keep Luke’s little body free of drugs that had the potential to do more harm than good. But Luke hadn’t really gotten any stronger since his last appointment and research does show that ‘if’ steroids were effective for a child with Duchenne then the younger they were started the better. So why the big deal?

Ever since Luke started his steroids many people have said to me that either they or their kids were taking steroids for this and that. The difference though is that Luke and other boys with DMD are not on steroids for a day, a week, 6 months or a year. It’s for life and it’s the only treatment option they have. Do you know what long term steroid use can do to a child? Well here are just a few of the side effects that most children will experience:

  • Stunted Growth – as if living with Duchenne didn’t already make kids different from their peers, those on steroids will also have to deal with the implications of being much shorter than their peers
  • Poor Bone Density – Children with DMD already have low bone density, add steroids to the mix and you essentially have brittle bones. Put this in the context of Duhenne where boys rarely recover from broken bones, and that poor bone density can be a life shortener, considering the link between the age they go off their feet and life expectancy
  • Weak Immune System – Steroids directly affect the immune system leaving children with Duchenne open to all sorts of infections and even a simple child hood illness like chicken pox can be life threatening. This weakened immune system puts life expectancy in danger as the kids are more susceptible to pneumonia, which their weaker than average lungs will find difficult to fight
  • Emotional & Behavioural problems – The difference in Luke’s emotions and behaviour are startling clear when he is on steroids. On his days on he can be uncontrollably giddy and happy one minute but the next something that normally wouldn’t bother him will set him off on a crying fit that it can be difficult to get him out of
  • Danger with anaesthetic – General anaesthetics are extremely dangerous for a child on long term steroids and simple operations like getting their tonsils out put the child at extreme risk
  • Moon Face – Most children on steroids for long periods of time will develop a rounder face often called the ‘moon face’ and in most cases when I see a picture of a child with Duchenne I can instantly tell whether they are or aren’t on steroids just by the shape of their face
  • Excessive weight gain – This is one of the more widely known side effects of long term steroid use and causes enormous pressure on the child’s bones, heart and lungs which are already weakened.

Indeed the reasons not to start steroids go more deeply than this but these are the reasons I was so afraid to start steroids.

But steroids create the ‘possibility’ that Luke will walk for up to 2 years longer than expected, they make it possible that he ‘may’ escape the need for scoliosis surgery in his early teenage years, they give him energy that he would not otherwise have had, and in many cases steroid use is a pre requisite for participation on a clinical trial. And so Luke started to take steroids early this year on a 10 days off/ 10 days on regimen and so far, with the exception of some emotional and behavioural issues and him not having grown much since, they have had a positive impact on his life. He tires less easily, he can climb a little better, he can move a little quicker and his balance seems a little better. I can’t see what they are doing inside his body but for now, his regime has kept many of the physical side effects at bay. He will move to a daily regime within the coming months and I know that this will change things. But for now, the decision to start steroids was a positive one and we will focus on that and the hope that they might keep him walking for longer and use all of Luke’s newly acquired skills to make his life as happy and abundant as possible while they last :-).

Steroids have the potential to keep Luke walking longer
Steroids have the potential to keep Luke walking longer