The Largest Gene and Presian

08/05/2026

https://www.nice.org.uk/news/articles/nice-approves-duchenne-muscular-dystrophy-treatment-givinostat-after-commercial-deal-sealed

HomeNewsNews articlesNICE approves Duchenne muscular dystrophy treatment givinostat after commercial deal sealed Around 530 people in England will benefit from access to the Duchenne muscular dystrophy treatment givinostat, following the successful negotiation of a commercial deal to make the medici...

29/04/2026

The first blood test after starting - hopefully the results will be ok. The nurses at RUH were great.

21/04/2026

21/04/2026

The amount of medication needed for Presian to delay the progress of Duchenne and to keep well. He started taking Givinostat last week, as part of Early Access Programme, which we are thankful for. It's a lot (morning and evening now) and the pile will only get bigger with time (plus machines in the future). He's taking it all with no complaints despite the bad tasting liquids. And will have many blood tests in the following weeks to monitor how he is doing on the new medication. Our special boy. 💙

15/02/2026

We are watching Duchenne research move faster than ever before… and somehow it still feels like time is running out for our children.

There are real breakthroughs happening. Not headlines for the sake of headlines — actual science moving.

Elevidys is already approved in the US.
Dyne Therapeutics’ exon-skipping therapy is in human trials showing encouraging early results.
Genethon’s gene therapy is in Phase 3 trials in Europe.
And now companies are working on ways to deliver full-length dystrophin that could one day allow re-dosing.

The pipeline is real. The progress is real.
But so is the clock.

When you live Duchenne every day, research isn’t abstract. It’s measured in hospital appointments, fractures, wheelchairs, breathing changes, fatigue, and the quiet awareness that our children’s bodies don’t pause while science catches up.

We celebrate every breakthrough. We cheer every trial result. We donate, advocate, travel, fundraise, and push for faster access.

And at the same time, many of us carry a fear we rarely say out loud:
What if this comes just a little too late for our generation?

That fear doesn’t make us ungrateful. It makes us parents watching a race between science and a disease that does not wait.

Hope in the Duchenne community isn’t soft. It’s fierce. It sits right next to grief and exhaustion and determination. We hold all of it at once.
Because even if our children don’t receive the full benefit of what’s coming, we fight so the next generation will. And we fight because medicine has surprised the world before. Timelines shift. Doors open. What feels impossible becomes standard care.

So we hang on.
Not by a thread.
But by each other.

29/01/2026

This is the amount of medicine a boy living with takes every morning, and more expected in the future.

This is daily life with .

24/12/2025

Our fundraising event for Action Duchenne earlier this month. Thank you so much Maria Matei for your support (you've made lovely products!), and to everyone who made donations to the charity, was there for us, bought a gift, or gave us encouragement. It means a lot. Happy Christmas to all. ❤️

16/12/2025

The largest known human gene is dystrophin (DMD).

This gene has an important job. It helps keep our muscles strong and protected, acting like a shock absorber every time we move, walk or even breathe. When dystrophin works well, our muscles handle daily stress without a problem.

But when something goes wrong in this gene, the effects can be serious. Small changes (mutations) in its long sequence can lead to conditions like Duchenne and Becker muscular dystrophy, severe muscle-wasting disorders, where muscles gradually weaken over time.

So even though it’s invisible to the eye, the largest gene in our body quietly works behind the scenes every day—reminding us that even the tiniest parts of life can carry the biggest responsibilities.

27/11/2025

https://www.facebook.com/share/p/17WEASUkaP/

💛💙 Why some children with Duchenne ask their mum to speak for them 💙💛
—from a Duchenne mum

I wanted to share something I see with Joshua all the time, especially at medical appointments… and I know so many of you will relate.

You’re stood there, a doctor or nurse asks your son a question—
“How’s college going?”
“Any pain today?”
“What made you laugh this week?”

And he immediately turns to you and quietly says,

“You tell them?”

And for a moment you wonder… Why? He knows the answer.

Here’s the truth 👇

For many boys with Duchenne, speaking in certain situations can feel overwhelming.

Their brain is already juggling fatigue, discomfort, anxiety about tests or results, trying to read the room, trying to stay brave…
And then a social demand gets added on top.

That simple question becomes too much 😔

So when they ask us to answer for them, what they’re really saying is:

“I can’t do the social bit right now… please help me.”

💛 Being put on the spot in a medical setting
💙 Feeling tired, sore or emotionally drained
💛 Worrying they’ll say the “wrong” thing
💙 Can’t find the words when pressure hits
💛 Feeling embarrassed or unsure about how honest to be
💙 Having already talked about their symptoms over and over again
💛 Worried about people’s reactions, or about disappointing someone

They lean on us because we’re their safe person, their emotional buffer.
The one place they don’t have to mask or perform. 🙏🏼

And honestly? It’s completely okay.
You’re their anchor. Their comfort. Their home base. 🧡

The goal is never to force them to speak.
It’s to help them feel safe enough to share when they are ready.

If this is your child too, you’re not alone. There’s nothing “wrong” with them.
Their world asks a lot of them, and they’re doing the best they can.

Sending love to every Duchenne parent who quietly steps in and holds space for their son until his voice feels safe again.

💛💙

21/11/2025

🎉 Today is my birthday, and I don’t wish for anything material — I wish for health for my family, especially for Presian, who lives every day with Duchenne muscular dystrophy.

The amazing charity Action Duchenne has stood by our family from the moment we received Presian’s diagnosis, and continues to support him throughout his journey living with Duchenne. Now, on my birthday, I’d love nothing more than to give something back. ❤️

📅 On the 6th of December 2025, we will be having a stall at the Hayesfield Christmas Fair, raising funds for Action Duchenne.
If you’re nearby, please pop along and say hello — your support, in any form, would make Presian and all of us incredibly happy.

If you’re able to support Action Duchenne with any donation, it would mean the world to us. https://www.actionduchenne.org/support-us-fundraising/

Thank you so much for your kindness. 💛
Every bit of support is truly appreciated.

Love,
Ivelina