We were given the news in a dark, windowless room at Great Ormond Street hospital. My husband and I – sitting there with his mum and my mum. All of us trying to grapple with what we were being told.
Our eldest son, Eli had just been diagnosed with Duchenne Muscular Dystrophy. A fault on his dystrophin gene – the largest gene in the body. Dystrophin plays a massive role in keeping the body healthy. It’s a protein that acts like a coat hanger, holding the muscle cell intact. Without it muscles simply die. For Eli that meant he would be in a wheelchair at 12, completely paralysed by his mid-teens; life expectancy was mid-twenties. And that there were very few treatments, very little the doctors could do.
…no counselling, no support. Just a simple message to prepare for life with a seriously disabled child and try to make the most of it.
And that was it. They sent us back into the world – with no counselling, no support. Just a simple message to prepare for life with a seriously disabled child and try to make the most of it.
In one sense everything was the same. Eli was the same 3 and half year old he’d been the day before. But of course nothing was the same. The world as I knew it had just collapsed in on itself.
That was in 2011. Up until that point, it would have appeared that I was leading a golden life. Perfect because my husband and I were in good health. And our two children Eli and Lauren were healthy. These are things that you absolutely take for granted. Until they are taken away from you.
The world as I knew it had just collapsed in on itself.
I had recently landed my dream job as a reporter and presenter with Channel 4 News. I had fought my way up from a behind the camera producer to reading & reporting on the news. It was a job I had always wanted. I almost didn’t make it. I remember one (male) boss, saying to me: Emily, less scatter, more brain: you don’t want to get the reputation as a lightweight. I had a degree from Oxford. I also had blonde hair. The blonde hair counted against me more than the degree counted for me.
But I worked hard. I had a thousand nos. And then I got lucky – if you can call it that. I was the first reporter on the scene when London was bombed on July 7th – I happened to be round the corner when Hasib Hussain blew himself up and murdered 13 other people on the number 30 bus.
Channel 4 News saw me reporting live, and offered me a job.
Staff congratulated me and patted me on the back saying: now darling – just don’t go getting yourself bloody pregnant.
I was breaking stories. I was starting to make an impact. One morning, one of the staff congratulated me and patted me on the back saying: now darling – just don’t go getting yourself bloody pregnant. But I was already was. I took a year off and delighted in my first born child, Eli.
My best friend had a daughter around the same time, We watched them grow together. We took them to the park, to swimming lessons. They walked the same way, they played as equals.
And then, that day, my life took it’s devastating turn.
I felt the physical chasm open up – between our old lives and our new reality.
I remember Nick and I standing in the waiting room afterwards, clutching each other, tears running down our faces: and in that moment I felt the physical chasm open up – between our old lives and our new reality. I looked back at the other parents in the room and could see the horrified looks on their faces. It was obvious that we had just received the worst news possible, and I could see them hugging their children tighter, as if by doing so they could ward off whatever terrible news had befallen the couple they were watching.
And I wish that the doctors had given me a diagnosis that day: I wish they had said, Emily your son has DMD, and you have Relapsing Remitting Grief disorder, or Your World is Collapsing Condition: just something to get me through those first days. Just an acknowledgement of how utterly devastating this news was to a parent. How I wish they had levelled with me and said: Emily, you are going to have to find strength that you didn’t ever know you had, because you are going to have teach your son how to live, whilst watching him slip away. And somehow make that ok.
You are going to have teach your son how to live, whilst watching him slip away. And somehow make that ok.
I cried everywhere I went. On the tube. At the shops. On the bus. I felt utterly lost, bereft, robbed of all hope. Robbed of any sense that life was worth living. I just couldn’t contain the huge well of grief desperation and despair that seemed to envelop my every mood.
Everything seemed hopeless.
And at the heart of it all, I just felt so alone. I would drop Eli at school and then sit in the car sometimes for up to and hour and just sob. I couldn’t tell any of the other mums – it just seemed too much of a big thing, too horrifying, and somehow too intimate to share. When I did, of course there was a collective kindness that I could not have ever imagined.
…there was a collective kindness that I could not have ever imagined.
The definitive turning point for me was when I began to meet other Duchenne mums, who felt like I did. I first met Alex Johnson, with whom I ended creating Duchenne UK, at a conference for families and boys with Duchenne Muscular Dystrophy. We were introduced, having both recently received a diagnosis of DMD. We could barely speak to each other we were both in so much pain. But bit by bit a deep and enduring friendship developed and I had finally found someone who felt as I did. Not to be defined by Duchenne. But to be defined in a response to fight. And in 2016, I renamed my charity and Alex and I set up Duchenne UK.
Not to be defined by Duchenne. But to be defined in a response to fight.
In that time, I have met extraordinary people. I’ve met some total bastards too. One scientist, who took it upon himself to mansplain to my husband and I, that no matter what we did we wouldn’t make a jot of difference.
Well, he was very wrong. It’s not an understatement to say that our charity is moving mountains: I’ve gone from being an Oxford graduate of modern history, to embarking on a crash course on drug development. It’s a hugely complex and challenging industry, and the hurdles and the amounts of money involved are simply mind boggling. We’ve been making huge strides: And then Covid happened.
I’ve gone from being an Oxford graduate of modern history, to embarking on a crash course on drug development.
On one level, the first lockdown felt manageable, because for me, no news on earth ever could be worse than a diagnosis of Duchenne. But on another level, we were extremely anxious: Eli was initially placed in the vulnerable category – so we were extremely worried for him. We begin isolating 10 days before the national lockdown and our charity started hosting emergency webinars for our community, all nervous and anxious about what to do for the best. Rumours swirled about children with pre-existing conditions being denied treatment. None true of course, but nevertheless very frightening. We dug in for the long haul. I spent 2 days frantically trying to get in Eli’s medicines. He takes daily corticosteroids and heart medication and I was terrified of running out. I was called by Great Ormond Street and was told to train myself for what to do in an emergency and how to treat him if we couldn’t get to hospital. And I had to learn to administer his monthly injections, because we were told to stay away from the GP.
I was told to train myself for what to do in an emergency and how to treat him if we couldn’t get to hospital.
But once the initial shock of Covid subsided and we were in a routine of isolating, I felt strangely calm. I felt that, for the first time since diagnosis, everyone was in the same boat as me. There was nothing Eli was missing out on, because nothing was happening.
A bridging line here to get to the charity
In 8 years we’ve raised more than £15million – which is a tiny drop in the ocean in the multi billion dollar pharmaceutical industry. But we’ve used that money – and our vast experience as patients – to really leverage our influence and help accelerate drug development and bring about real change.
Take gene therapy for example …. When Eli was diagnosed, the doctors said to forget gene therapy – it was too far off. We invested $1million in a US biotech, Solid Bioscienes, and today they are now testing their treatment on boys with DMD. And two other companies are developing this exciting approach. We are funding our own trial looking at the breast cancer drug Tamoxifen – which has shown to be promising in DMD.
I know that game-changing treatments are coming. But Duchenne is relentless in it’s attack on the body. We are in a race against time
We have set up a network of clinical trial sites to make sure all boys diagnosed with DMD have the chance to take part in clinical trials.
We have done what no-one before us has done and set up project Hercules, an award winning collaboration of competing pharmaceutical companies to help them prepare the data and information they need for organisations like NICE. And we are now moving into an exciting new area technology – looking at how we can improve the lives of disabled wheelchair users today by harnessing technological developments.
I know that game-changing treatments are coming. But Duchenne is relentless in it’s attack on the body. We are in a race against time: The hardest part for me now, is wondering whether whether these will come in time for my son. Grief has given me focus. But there’s no comfort. I hear friends struggle with their children growing up. And I’m jealous. Because my son’s trajectory is going backwards – physically, he’s going in the wrong direction.
Writing this piece has been much more painful than I’d anticipated.
Reminding myself of just how low I had sunk. Dredging up these memories has been painful. And it’s frightening because at any moment I could be back there in that awful place of despair and desperation.
Acceptance doesn’t mean giving up. And in this new normal, there is incredible joy, happiness and unbelievable pride.
But with time, and with therapy, my husband and I have found a new normal. It’s now normal to discuss with our son when he might stop walking and what will happen then. These conversations are tough. But somehow we have all found a resilience to cope with them. And in this new normal, there is incredible joy, happiness and unbelievable pride. Pride in my son’s stoicism and bravery – he’s in a mainstream school and is loving it. He’s the only kid in a wheelchair , but he goes to and from school every day on his own with friends in his power chair – something I never imaged he’d be able to do. He’s the lead singer in a band, Alcatraz, and they played at our Christmas party last year.
Our two daughters bring us joy in so many ways – and in their kindness and love for their brother.
I’m sure that the Emily Reuben sitting in that dark hospital room with her 3 year old son, would not believe in the words I’m writing now. Maybe she would feel that it’s a betrayal – that by accommodating the pain I’ve somehow accepted Duchenne. That Emily was so lost, so broken.
But someone once said to me that acceptance doesn’t mean giving up. And that has stuck with me. I now accept my son’s diagnosis. But I will never, ever give up hope and I will never ever stop fighting for him.
– Emily Crossley
I only learnt to speak up when I had a disabled child
Coming to terms with her daughter’s autism was a catalyst for Jing’s own transformation
How to Help Teens Cope with Anxiety
Alicia Drummond explores the effects of the pandemic on our children, and what we can do to counter them