48. Alex's Wish for Duchenne

[00:00:00] Emma: Our strap line is ' Cure Duchenne'. That's our ultimate aim is to cure this devastating condition for every single child.

This generation of boys will either be the last to die of Duchenne or the first to survive.

survive Emma Hallam is high energy. Picking up her story just after leaving college; she launched herself into work, administrative at first, but then shifting into a marketing role.

[00:01:09] Steve: By 21, she decided to push even harder. And while continuing to work, Emma went to university to gain a marketing degree, working evenings, weekends, holidays.

And then on one of those midweek evenings, life was about to take a turn.

Emma meets her future husband

[00:01:27] Emma: It's a Thursday night. I've got work tomorrow. I'm not going out. And it was a last minute decision. No, I'm going to go out. Sod it, I'll go.

And off I went out and I was literally just about to get the taxi home and... literally five minutes before my taxi arrived, this guy... I caught his eye, he caught mine, we went to the bar and he said, "Do you want a drink?"

And I said, "Okay". And then I cancelled my taxi and stayed out for another couple of hours.

And that was my future husband. And we literally got engaged within the first year of meeting, we moved in together and I guess being 21 through my twenties  were absolutely fantastic.

[00:02:10] Steve: So Emma got married and the next ten years raced by. As for most of us, there were highs and lows, but Emma's now 31 and great news...

Alex is born

[00:02:22] Emma: I get pregnant. The baby was due... literally his due date was the 1st of May, and I went into labour on the 1st of May.

It was like this baby was perfect. He even lasted perfectly... full term.

[00:02:36] Steve: Amazing. What about the labour?

[00:02:39] Emma: It was a nightmare labour. He, basically took a long time to come out and he came out with his elbow sort of on his head, so can you imagine yeah, it wasn't the best.

However, Alex was born and just having this bundle of joy in my arms was just incredible. Yeah, absolutely delightful.

[00:02:59] Steve: Tell me about baby Alex.

[00:03:02] Emma: Alex was the most cutest baby toddler. I remember taking literally as maximum time off at work. I think I took nine months off.

 I was really cherishing these first months and we would go to baby classes and my mum would come as well. My mum sort of worked four days a week.

So she had Fridays off. So we spent a lot of time together on a Friday and just, you know, go walking, see other mums. It was just, yeah, absolutely fantastic.

[00:03:31] Steve: Roll forward a few years. Alex was nearly four. It was April. One evening Emma was returning home from work, via the nursery, to pick up Alex.

First concens about Alex's health

[00:03:42] Emma:  ..and Nursery has said to me, pulled me to one side and said, "Emma, just want to have a quick word." And I was like, "Oh yeah, okay, what's happened? What's... everything okay?"

 And they said, "We noticed something about Alex that was really noticeable..." noticeable being underscored.

They said, We don't want to alarm you, but something's not right with Alex, and we don't know what it is".   

[00:04:08] Steve: The next morning on her way to work, Emma was checking in with her mother on the phone, as she did every day, and mentioned the conversation she'd had with the nursery the day before.

[00:04:18] Emma:  And she just went really quiet and I said, "What's wrong?"

And she said, "Emma, I just need to mention something to you", and I said, "What?" and she said, "Can you remember your uncle who died when you were three years old?"

And I said, "Yeah, my uncle Derek who was in a wheelchair, Yeah, I do. I loved my uncle Derek. I used to sit in his wheelchair with him".

And she said, " There's just something like really bothering me". And I was like, "Okay, okay, I'll get a doctor's appointment booked and we'll mention it".

[00:04:49] Steve: Emma's mother had mentioned muscular dystrophy. So she called her husband.

[00:04:55] Emma: ...and he Googled it and he types it in, 'muscular dystrophy', and basically it came across a condition called  Duchenne muscular dystrophy.

And so the next morning We booked in an appointment and Alex went to the doctors and he said, "Let's just take a blood test and, you know, don't worry about it".

 So the blood test was taken on the Thursday on the Saturday morning I was getting ready to go around to some friend's house.

Duchenne muscular dystrophy diagnosis

[00:05:23] Steve: It was a beautiful sunny April morning. The phone rang. Emma's husband picked up.

[00:05:30] Emma: And I heard him say, "Okay, right, okay." And his tone, I knew, I knew that was the hospital. And I just sat there waiting for him to come off the phone. And I looked at him and he said, " Yeah, he's got it".

So we're then left with this devastating diagnosis, but no support. We're going to get a letter through for an appointment at the hospital.

[00:06:03] Steve: Devastating. What did you do at that moment?

[00:06:06] Emma:  ...so looking at Alex, excitable, want to go and see my best mate, we decided nothing more than open that front door, go on our way, go round to my friend's house, exactly as we had planned.

 I think the next morning when we woke up, that was when it really hit us, you know, of the devastation of what this now means, and what our future potentially now holds for Alex and ourselves.

Emma's uncle

[00:06:34] Steve: When any parent receives unexpected news of anything untoward about their children, it's a shock. It might be the first derailing in life that they've experienced.

How they react might surprise them. But Emma had previous. This wasn't the first time she'd experienced setbacks. In fact, Emma has had more than most.

 When she was 16, she came home one day to learn that her uncle had unexpectedly been killed in very tragic circumstances.

Emma's instinctive coping strategy was to focus on her mother who was very close to her brother, Emma's uncle, and was particularly effected by what had happened.

In turn, Emma could look to her father for support. She was close to him too.

Emma's father

[00:07:32] Emma:  My father really wasn't around a great deal. He would either work morning shifts, day shifts or night shifts.

But when he was, he was always full of laughter, he was always the joker. He was good fun to be around and he had such a great network of friends that I loved to be part of.

It was six months after Emma's uncle had died and she could sense that something wasn't quite right at home. That unbridled joy and laughter didn't seem to be there in the way it had in the past.  It was Saturday evening and my mum and dad went out to one of the local bars, the pubs nearby.

Sunday morning came and gone, I went out and about doing my thing, came home for Sunday lunch and interestingly, looking back it's very weird, but my dad said, "I don't want any meat today".

And... my dad never didn't have meat, so that was unusual. But at the time I didn't think anything of it.

[00:08:29] Steve: Sunday evening came. Emma's father left for work. He worked at the local colliery and was on the night shift that night.

Emma was upstairs in her bedroom, listening to music. As he was leaving Emma's father called up to her and said,

[00:08:46] Emma: "I'm going Emma, bye". But I didn't hear him. I didn't hear what he said. He was the kind of first aid medical person that worked night shifts just in case anything went wrong in the pits.

My dad had a room full of medical supplies, often him with a TV just sitting in the room for 8,9, 10 hours at a time.

And the next morning, so the Monday morning, I was getting ready to go to college. I was up early, I was upstairs in the bathroom. And my mum shouted, "Oh, your dad's not back yet".

 And, I remember thinking, "He'll be back, he's gotta take me to college". Well, he's gotta take me to the bus stop so I can get to college, he... doesn't let me down.

[00:09:28] Steve: Another five minutes passed and then there was a knock at the door.

[00:09:34] Emma: And I just heard my mum open the door and then shouting up to the stairs and saying, "Emma, you need to come downstairs".

At the time I'd sort of just got out of the bath and I was like, "Mum, I'm not dressed", and she goes, "Just put... a dressing gown on. You need to come downstairs".

So I did, went downstairs, wet hair, went downstairs and there was two policemen sort of sat in my living room.

So the police said, "Can you sit down? I need to talk to you and your mum". So we did.

And he said, "I'm really sorry to tell you,  but your dad's taken his own life".

[00:10:11] Steve: What'd they say had happened?

[00:10:22] Emma: What they said to us was, " Your dad has taken a massive overdose. He took 120 paracetamol. And he also took the ones that you pop out.

So literally he had to pop every single one of those tablets out. This was genuinely something that he was wanting to do.

And he'd taken the painkillers with a bottle of whisky as well.

 He meant to do it. It was something that he'd planned to do. He had put a note on the door that said, "Do not enter", for the next person that was coming in on the next shift.

They tried to resuscitate him but unfortunately, he passed away on the way to the hospital.

Emma's first child

[00:11:06] Steve: This was the second major loss for Emma within six months.

Again, she coped by focusing on supporting her mum, but also by putting our head down, and working hard. Very hard.

Roll on a few more years. Do you remember Emma said that Alex was their first child? Well, at the age of 30 she'd actually become pregnant for the first time and all was good up to 12 weeks when she had her first scan.

The radiographer referred the scan to the consultant who expressed some concern.

After carrying out an amniocentesis, the consultant was able to confirm that the baby had Edward's Syndrome.

 The prognosis was bleak and Emma and her husband were asked to consider the future of their baby.

[00:11:53] Emma: So we went back to the hospital and they did another scan and they just said to us, "You don't need to make a decision because the baby has already passed away."

And I was told that Edwards Syndrome is a one off, that it's genetic, it can happen to anybody. Do not let this put you off getting another pregnancy.

And so obviously, from that regard, there was some good news in that there was nothing wrong with me. I could have more children that we could try again, as devastating as this was.  

Emma's mother

[00:12:25] Steve: Through all of these losses Emma had at least had the love and support of her mother. Together, they could survive anything.

But when Alex was two years old, Emma's mother had been diagnosed with cancer, and despite fighting back and being in remission for two years, a short while before Alex's own diagnosis of Duchenne, it was back.

[00:12:48] Emma: ...and it came back very rapidly. And the only way of treating this cancer was through radiotherapy.

But unfortunately, my mum had had so much radiotherapy the first time round that she couldn't have any more radiotherapy.

 So literally, there was no more that they could do. We knew at this point that it was terminal.

[00:13:06] Steve: So when Alex was diagnosed, which was literally two weeks before Alex's birthday, she died ten weeks later. And it was at this point that Emma had hit rock bottom.

She seemed to be losing everyone closest to her and now she'd lost her mum. The next year was just a low.

Emma took time out of work to try and process everything that had happened.

Then, literally out of the blue, everything changed.  

 Dancing with Duchenne

[00:13:37] Emma: I'd kind of woken up one morning, and I literally said to myself, "That's it. Enough. Enough crying. Enough pity. This cannot carry on."

I signed myself up to do a skydive. I literally hate flying and the thought of doing a skydive was just terrifying. I hate flying and I hate heights. And I went and did this skydive.

And I jumped out of the plane and the whole experience just brought me back to reality and made me feel so alive and electric.

[00:14:18] Steve: Jumping out of a plane had given Emma the clarity that she had been searching for that past year.

[00:14:37] Emma:  Duchenne muscular dystrophy diagnosis is terrible. The fact that my mum has passed away is terrible. But what? She's not suffering anymore.

She will remain with me as my dad remains with me. Take control of the controllables and stop worrying about the uncontrollables.

 Stop worrying about Alex's future. Alex is okay today. And guess what? He's going to be okay tomorrow.

Now tomorrow, you can think that again. Today Alex is going to be okay and tomorrow he's going to be okay. And every single day, you tell yourself that.

 Stop worrying about what's further down the line. Enjoy every moment of him being him, right now. He's running around, he's having great fun, he's the most amazing little boy.

You've got the most amazing support network, friends and family around you. You've got all the tools that you need. Now go out there and make a change.

[00:15:28] Steve: And Emma immediately set about making that change.

Alex's Wish

[00:15:37] Emma:  What do I love doing the best? I love organizing events, I'm great with people, I think I am anyway, and go and do something positive.

So, I decided that I was going to embark on a new challenge and set up a charity that I then called Alex's Wish.

 I was told there's no treatment and there's no cure for this disease. This charity was going to raise awareness and raise money to try and bring new effective treatments and a cure for this condition.

And I put all my energy and attention and focus on that and doing something really positive.

[00:16:15] Steve: Let's just pause a second, Emma. What exactly is Duchenne?

Emma talks about Duchenne

[00:16:30] Emma: So Duchenne muscular dystrophy; It's a severe and progressive muscle-wasting wasting condition.

It affects every single muscle in your body. It starts in your legs, so the weakness in the legs means your child will need a wheelchair, possibly need a wheelchair full time by the age of 10 on average.

And then the muscle wasting will continue up their torso, up to their arms, which means that even putting a cup to their mouth becomes too difficult.

Raising their arms above their head is difficult. Hugging a loved one is too difficult.

Well, if you think your heart and your lungs are muscles too, so it's going to result in cardiac complications, respiratory complications, leading to cardiac and or respiratory failure.

Average age, Mid 20s. They will end up potentially on a ventilator to breathe and they will need heart drugs and it becomes too difficult to swallow food because the oesophagus is a muscle which leads to things like...

fragility of bones, more likely to break your bones, if you break your bones you're more likely to come off your feet quicker...

and also potential osteoporosis, which is the curvature of the spine, leading to potential spinal surgery needed, and the list goes on.

 There are no treatments. And there's no cure. And this is what's going to happen to your little, precious three year old boy.

[00:18:12] Steve: There was one small problem with Emma's plan to start the charity. Alex was seven and knew a limited amount about his condition.

She was going to go out there telling the world about it.

Telling Alex about Duchenne

[00:18:34] Emma: What I decided to tell Alex was that whatever he reads online, whatever is out there, is literally historical data. No one can read the future. What we can do is change the future.

And I told it in a really friendly way that was relevant to his age. He needed to be introduced to it in a really child friendly way.

 And if he was to ever ask me any questions, I'd answer those questions very specifically to his age appropriate. So, I wouldn't give him any more information than what he needed.

So, "Why, Mummy, have I got poorly muscles?" And I would talk to him about why - that it is something that he's born with, it's not something that he has done.

It's not his fault, it's not our fault, it's nobody's fault... these things happen. But just because he has got poorly muscles, it just means that he needs to rest a little bit more.

[00:19:20] Steve: Emma had adopted a simple approach that most parents adopt - by sharing information honestly and openly, but on a need to know basis.

It's just that this was on a much grander scale than usual. No big statement, just a succession of micro steps. And it seemed to work... usually.

[00:19:42] Emma:  I remember there was a time when we was in the car, and he was fascinated by cars. He loved watching Formula One, he loved sports cars, he was a massive car fanatic.

And I was driving him home from school one day, and he just said to me, "Mummy, am I going to be able to drive when I'm older?"

And it hit me like a sledgehammer. Because at the time, I didn't know. And I was just like, "Wow". I said..., " Hopefully, darling, yes. What car would you like to drive?", trying to distract him a little bit.

Because my emotions at the time, I remember, I literally could have burst into tears, those little milestones where they ask these questions and you just don't know.

 I didn't want to give him false hope, but equally, you've got to live with hope. I never wanted to say he couldn't do anything really. It was always, "Well, we can do that, but we might need to do that in a slightly different way".

Objectives of Alex's Wish

[00:20:40] Steve: So tell me a little more about the Alex's Wish charity.

[00:20:45] Emma: Our strap line is ' Cure Duchenne'. That's our ultimate aim is to cure this devastating condition for every single child.

This generation of boys will either be the last to die of Duchenne or the first to survive. survive  

So what we do is we invest in medical research, in clinical trials and new technologies, to bring about effective treatments and ultimately technologies that are going to help boys live a good life, a quality life, enable them to access the world in the best way they can.

 But also as well to give families hope that we're investing in the future.

[00:21:28] Steve: And of course to achieve this, you need to raise a lot of money. But you have a particular philosophy when it comes to that, don't you?

[00:21:36] Emma: What we do as a charity is lots of fundraising activities that are all fun.

We put the fun into fundraising. So it might be a really serious cause, and we're very serious about raising the money, but what we're not serious about is how we raise the money.

Every single day, Alex's Wish plays a huge part in our lives.

We've now got a team, we've got amazing trustees board, we've got some phenomenal supporters. We are so lucky to have so many people support the cause and we've now raised over £2. 2 million and we've invested in 37 different projects.

 How do we diagnose potential heart problems in boys? How do we delay those problems so that boys' hearts are stronger for longer? How do we get boys walking for longer? How do we bring about new effective treatments and ultimately that cure that we want?  So yeah, that's what we do as a charity.

Duchenne as a life-limiting condition

[00:22:27] Steve: I asked Emma how she approached the part of the Duchenne diagnosis that says 'life-limiting, average life expectancy - twenties'.

Well, having lived through the loss of her uncle and father, both under tragic circumstances, her mother from cancer and her first child pre-term, Emma has a well-considered view of what 'life-limiting' means.

[00:22:59] Emma: What is life-limiting? I see it this way; that my dad was here one day, he was gone the next, as was my mum. They hadn't been diagnosed with a life-limiting condition.

Accidents happen every day. They haven't been diagnosed with a life-limiting condition. We're all life-limiting if you think about it.

 We should never take our lives for granted. What is in our control is we can live today the best day. Because no tomorrow is guaranteed for anybody.

I don't have a crystal ball, I don't know what the future holds, so why should we be defined by somebody telling us what the future holds?

We concentrate on today, we focus even on this year, we don't even look beyond too much.

And we set ourselves goals, we set ourselves things we want to do, places we want to go, experiences we want to achieve and we just focus on those.

[00:23:48] Steve: When Emma says that they concentrate on today and don't look beyond too much, that's not strictly true. From the age of nine, Alex has been taking part in clinical trials.

Alex's Duchenne clinical trials

[00:24:02] Emma: So we know that families have got to be incredibly brave to take part in clinical trials because there are upsides and potential downsides.

  The first one was a trial that he was on for almost three years, and he had to go to hospital once a month for an infusion.

[00:24:18] Emma: So, not easy, quite disruptive in terms of family time and all the rest of it. However, that drug didn't... it just didn't work.

So, unfortunately it was stopped and it was devastating news for Alex because, you know, for him it gave him hope that he thought the drug was potentially working.

 However, good thing bad thing, who knows? I love that statement. It felt bad at the time. However, three months later, a new clinical trial came about.

And I remember calling the... guys up there to say, "Is there any chance I could get Alex on this trial?"

And they said, "Actually, yes, he was eligible,  Alex said yes, he's happy to go on the clinical trial and then he has been on that trial ever since.

He's still on it, so he's been on it for five years now. And about a year ago, we got the news, fantastic news, that this drug is actually proving to be delaying the disease progression.

[00:25:13] Steve: Ironically if the first trial Alex was participating in hadn't been stopped when it had because it wasn't working, he wouldn't have been eligible for the trial he's now on, which demonstrably is working.

As Emma said, "Good thing, bad thing".

[00:25:31] Emma:  So yeah, he's still on the trial and it's now going through the drug approval stage.

So hopefully we can get all children on this new drug. It's called Givinostat. And we don't know how long it's going to delay the disease progression. It's certainly not a cure.

But it's helping and I'm so proud of Alex that he's dedicated so many years on clinical trials, which not everybody is... up for doing.

So I take my hat off to him for doing that.

[00:25:54] Steve: And it obviously starts out as a very altruistic thing. It would be be quite a story if it actually ends up helping Alex to live stronger and healthier and longer and everything, wouldn't it?

Thoughts for other parents with Duchenne children

[00:26:07] Steve: And thoughts for other parents in similar situations?

[00:26:23] Emma: For me, that mantra of, "Today is going to be okay and tomorrow will be okay", really helped me bring it back to the here and now.

 Let's not get carried away with what's happening in 10 years time. Don't allow all the bad news to consume you.

Because sometimes it... can be all encompassing, like, all you're thinking about is Duchenne and you need time just to be normal and just to do normal things.

But also not to blame yourself. You know, goodness me, definitely don't do that. And just be kind to yourself. And take time out and give yourself space to come to terms with everything.  

For me, it meant setting up a charity, not everybody would want to do that, but doing something that will positively make a difference and positively impact the future I think is really gonna help.

Emma talks resilience

[00:27:17] Steve: As a result of a catalogue of devastating experiences, Emma undoubtedly is a different person today from that 16 year old. She's turned these experiences upside down.

And if you ask Emma for one word that describes how she's got to this point, she's quite clear- resilience.

[00:27:49] Emma:  I think resilience is in every single one of us. Sometimes we just need to know it's there and build on it, and   despite anything happening to you in life, anything, you can come out of this stronger.

 Say there's a line, and there's a spiral that sits below the line. And there's a spiral that sits above the line.

So, one pointing down to Earth, one pointing up to the sky. And that line is my good place. And whenever I feel that that spiral is going down towards the Earth, I think to myself, "Stop. What do I need to do to get back up to that good place?"

Because I've always had this fear that I don't want to slip down that corkscrew too much because I may not find my way back.  

[00:28:38] Steve: This reminds me a little bit of like when you're on the plane before take-off and the flight attendants are giving the safety demo.

And they always say to parents that you should put your own mask on first and then your child, which on one hand is counter-intuitive...

...but on the other makes perfect sense because without you properly functioning, your child is in real trouble.

[00:29:02] Emma: Yeah, absolutely. You've got to have those tools in your toolbox to say, "Come on, let's get back up to that point of where I'm in a good place".

 And the corkscrew going up, obviously that is when amazing things happen. But you go up and down that corkscrew all the time.

[00:29:18] Steve: And that middle spot is where you like to be.

[00:29:21] Emma: It's a place of calm, of, "I'm not feeling anxious, I'm not feeling worried, I'm just in a calm place".

It's where you're level headed and you can think straight. And you can make good decisions. And you're not making rash decisions.

Beating Duchenne

[00:29:36] Steve: It was that positive mindset carved out as so many stressful moments throughout her life that allowed Emma to work through a later process of genetic testing, to find out she was carrying the gene responsible for Alex's condition...

...to go through in vitro fertilization to ultimately give birth to her second child, her wonderful daughter Isla.

 And so for Alex, he's doing pretty well. He's a tough lad. He's out there taking on the world right now. He's looking after himself by looking out for others.

 So when you're next having a tough time, think about the Hallam family, how it's possible to turn so much adversity into a force for good.

And whatever mood you're in, always remember Emma's mantra:

[00:30:27] Emma:  When life gives you lemons, you make  lemon meringue pie.