Jaxson's Journey with DMD

01/11/2026

01/11/2026

Stole our niece for the weekend and got some cousin time in ❤️

01/11/2026

❤️‍🩹

The Steroid Tightrope

For most families, one of the first conversations after a Duchenne diagnosis is about corticosteroids — Prednisone or Deflazacort.

They’re often described as a “deal with the devil.”

The benefit:
Steroids are powerful. They slow muscle breakdown, help preserve lung and heart function, and can keep a child walking for years longer than they might otherwise.

They buy time. Precious time.

The “side” effects (which are often just effects):
• Weight gain & “moon face” — visible changes that can deeply affect a child’s confidence
• Bone health — increased risk of fragile bones and “silent” spinal fractures
• Growth suppression — many boys with Duchenne are noticeably shorter than their peers
• “Steroid rage” — intense mood swings, anxiety, irritability… emotions they cannot control
This is the hardest part for many families.

As parents, we walk a tightrope every single day — balancing the physical strength these medicines provide against the emotional and systemic toll they take on our children.

Steroids are still considered the gold standard of care in Duchenne.
They protect the heart.
They preserve strength.
They keep muscles working for longer.

But that time comes at a cost.
It looks like puffy cheeks, brittle bones, and stunted growth.

It feels like emotional rollercoasters, outbursts, and overwhelm — for a child who never asked for any of this.
Every dose is a calculated choice.

A trade-off between strength of body and peace of mind.

In the world of Duchenne, medicine is often a double-edged sword.

01/09/2026

To the outside world, it might look like a child is being “difficult” or “lazy.”

But in the world of Duchenne, fatigue is a constant companion.

Imagine trying to run a marathon through sand while carrying a heavy backpack you can never take off.
That’s what a simple trip to the supermarket, a short walk, or a playtime outing can feel like for our boys.
When their body says “enough,” they have no choice but to listen.

Compassion begins with understanding that their stop is not a lack of effort or motivation —
it is a biological necessity.

The Reality
In a body without Duchenne, movement creates energy.
In a Duchenne body, movement consumes it — at a rate the body simply cannot sustain.

Because their muscles lack dystrophin, every movement causes tiny injuries. Their bodies are working on overdrive just to do what others take for granted: standing, walking, staying upright. What looks like “doing nothing” is often their body working its hardest.

What Fatigue Can Look Like
• Sitting down in the middle of the playground
• Asking to be carried after a short walk
• Irritability or emotional “meltdowns” late in the day
• Heavy breathing after minor exertion

When a child with Duchenne stops, it isn’t a choice.
It’s a wall.
They aren’t giving up.
They haven’t failed.
They have simply run out of fuel.

Please don’t judge what you don’t yet understand.
Kindness costs nothing — and for our children, it means everything.

01/07/2026

This

The first visit to the neuromuscular clinic stays with you forever.
On the outside, I was calm. Composed. Nodding at the right moments.
On the inside, my stomach was trembling like an earthquake I was trying desperately to keep quiet.
That deep, internal shaking that comes when your world is shifting and you’re not ready to admit it yet.
I listened… but I also didn’t.
Words were said that didn’t fully land.
Questions floated past that I didn’t know I should be asking yet.
You walk out later and realise how much you forgot, not because you didn’t care, but because your heart was busy catching up with your head.
I remember hugging Joshua just that bit tighter.
Not enough for him to notice.
Just enough for me to breathe.
I watched him do the North Star Assessment, turning it into a game like children do.
Stand up. Sit down. Walk. Balance.
He smiled. He tried hard. He was proud.
And I was watching something that looked playful on the surface, while quietly learning it was measuring things no parent ever wants measured.
Then came the planning.
Physio appointments.
Respiratory.
Cardiology.
So many doors opening at once, into rooms we didn’t know we’d need to enter.
A whole team assembling around our child, while we were still trying to understand why.
You leave that first appointment changed.
Carrying leaflets, dates, and referrals…
but also carrying a new weight in your chest that no one can see.
And yet, you also leave holding their hand.
Still their safe place.
Still their constant.
That day didn’t take our love, our joy, or our closeness.
If anything, it wrapped itself tighter around all three.

01/07/2026

No family ever forgets Diagnosis Day.
You remember what you were wearing.
The way the light fell in the doctor’s office.
How the air suddenly felt too thin to breathe.
First comes shock — a deep, physical numbness that settles into your bones.
Then grief — mourning the future you had quietly built in your heart for your child.
And then fear — for the battles you don’t yet know how to fight.
And then… you are handed an A4 folded leaflet.
A few pages that are supposed to hold the weight of your child’s life.
You’re told to go home and make memories for the time he has left — as if love could soften the blow, or preparation could make this survivable.
But the most surreal part of Diagnosis Day is what happens after you leave the hospital.
You still buckle your child into their car seat.
You still stop for petrol.
You still go home and make dinner, even though your heart is breaking at the kitchen sink.
Life doesn’t pause for your devastation.
The world keeps turning. 🌍
Diagnosis Day is a blur of medical words and shattered expectations.
It’s the day the imagined future disappears, and an unknown path begins.
But the story doesn’t end there.
Over time, we find each other.
Support networks grow.
There are spaces just for mums, and spaces just for dads — because we carry this diagnosis differently, and that matters.
We meet families who are brave enough to speak, to share, to say me too when the loneliness feels unbearable.
The dishes still need washing.
The laundry still needs folding.
But now, alongside the ordinary, there is community.
There is strength borrowed from others who have walked this road before us.

If you are standing in the early days of “after”, please know this:
It is enough to simply keep breathing.
That is enough for today. 🤍

01/05/2026

The Split. 💔
A Duchenne diagnosis doesn’t arrive all at once.
It doesn’t crash in—it creeps in.

It’s a slow-motion journey through blood tests, geneticists, and waiting rooms where time seems to stretch and your heart learns how to hold its breath.

You walk in hoping for a simple explanation.
Low tone. Late walking. “Let’s just check.”
And you walk out carrying a word that quietly rewrites your family’s future.

For us it was a paediatric trainee doctor that had listened to a lecture only a few weeks prior that had mentioned Duchenne symptoms.

For every Duchenne family, there is a Before and an After.
Before, when you didn’t know what dystrophin was.
Before, when milestones were just milestones—not warning signs.
Before, when your biggest worry was when they’d walk, not how long they’d keep walking.

The path to diagnosis is rarely straight.
It’s a series of hurdles—each one heavier than the last.

The CK Test.
A simple blood test. A number so high it doesn’t make sense.
“You should see a specialist.”

The Referral.
Neurology. Genetics. Appointments that take months but somehow move too fast when they finally arrive.
“You’re doing the right thing.”
“We just need to rule things out.”

The Genetic Test.
Looking deep into DNA—searching for a missing piece of the dystrophin gene.
The answer you fear, but also desperately need.

And in between all of this is the waiting.
The in-between is a heavy, quiet place.
You Google things you pray don’t apply to your child.
You analyse every movement, every fall, every climb upstairs.
At night, you watch them sleep—counting breaths, memorising eyelashes, convincing yourself they look strong.

And then comes the call.
Or the appointment.
And in a single moment, your life splits cleanly in two.

Before.
And After.

After, you are still the same person—but also someone new.
Someone who grieves the future they thought they had.
Someone who becomes an advocate, a researcher, a fighter—often without choosing to be.

Today, we honour that moment.
The split.
The courage it takes to survive it.
And every Duchenne parent who crossed that line and kept going—for love, for hope, for their child. 💙

What is the CT test?
​Creatine Kinase is an enzyme found primarily in your muscles. In a healthy body, CK stays inside the muscle cells to help produce energy. However, in Duchenne, the lack of a protein called dystrophin the muscle cell membranes fragile. These membranes develop tiny tears, causing CK to "leak" out of the muscle and into the bloodstream.

01/04/2026

“He’ll Catch Up” – Trusting Your Instincts
When a child misses a milestone, everyone is quick to reassure you. “Boys are just slower,” “He’ll catch up,” “He’s just taking his time.” You hear it so often that eventually, you start to question yourself.
But as a mum of a child with Duchenne, there’s a quiet, persistent voice in your heart saying: something isn’t right. It’s not just a little delay. It’s a struggle.

The Diagnostic Gap
On average, it takes two years from the moment a parent first notices something until a child is diagnosed with Duchenne. Two years of being told don’t worry, while inside, the muscles are slowly weakening.

If Your Gut Tells You Something Is Wrong
Ask for a CK (Creatine Kinase) test. It’s a simple blood test that shows muscle damage.
In a typical child, CK levels are low.

In a child with Duchenne, CK levels can be 10–100 times higher than normal because the damaged muscles “leak” this enzyme into the blood. Joshua's was 39000

Why It Matters
Early intervention—physical therapy, heart monitoring, and specialised care—doesn’t change the diagnosis. But it can change your child’s quality of life in ways that matter every single day.

We are taught to trust the experts, and of course, doctors are amazing—but no one knows your child like you do. If you notice frequent falls, struggles with stairs, or the “Gowers’ sign,” and it sits in your bones that it’s more than clumsiness… push for answers.

A simple CK blood test can save years of confusion and open the door to the support your child truly needs.

To every parent sitting in that “waiting room” of uncertainty: your instincts are real, they are valid, and they matter. Don’t stop searching until you have the truth.

01/04/2026

Vitamin D is crucial for bone health in Duchenne Muscular Dystrophy (DMD) patients, as deficiency is common due to corticosteroids and low activity, leading to osteoporosis and fractures; supplementation often with calcium is recommended to build bone density, supplement levels may vary based on age and severity

Bubs Vit D is slightly below target (target > 30). Dr recommended to continue the current multivitamin and add 400 international unit(s) daily- this one I bought from off Amazon is 500 and I put 8 drops in orange juice and he doesn't notice- which is huge because often he notices and won't take something without a major fight 🙄

01/03/2026

Day 3

The Early Signs – More Than Just “Clumsiness”

Before a child is diagnosed with Duchenne, parents often notice things that seem subtle at first — easy to brush off as just one of those things. But they don’t go away.

For us, the signs came early.
From just a few months old, we noticed Joshua’s hips were unusually stiff. After X-rays, we were told he had normal Graf type 2 hips, but with low muscle tone. At the time, it didn’t sound alarming — just something to “keep an eye on.”

Joshua skipped the usual crawling stage altogether, preferring to just go up on all fours, then flop onto his belly to commando crawl.

When he began sitting, we had to surround him with cushions because he couldn’t hold himself steady and would topple over. Again, we were reassured — every child develops differently.
But our instincts were already whispering that something wasn’t quite right.

The Red Flags:
Delayed Walking: Many boys with Duchenne don’t start walking until 18 months or later.
Low Muscle Tone: Babies may feel “floppy” or struggle with core strength from very early on.
Cruising Before Walking: Some children rely heavily on furniture for support when they first become mobile.
The “Duchenne Lean”: A slight waddle or sway through the hips when walking.
Calf Pseudohypertrophy: Calf muscles may look large and strong but are actually becoming stiff and replaced by fatty tissue.
Frequent Falls: Tripping more than peers or struggling to get back up.

The Gowers’ Sign — And Why It’s Sometimes Missed
One of the most recognisable signs of Duchenne is the Gowers’ manoeuvre. Because the hips and thighs weaken first, a child can’t stand up from the floor using their legs alone. Instead, they use their hands to “walk” up their own legs to reach standing.

But this sign isn’t always obvious early on.
With Joshua, we didn’t notice Gowers at first because he didn’t walk until 22 months — and even then, he mostly cruised around furniture. He wasn’t getting up from the floor independently very often, so the classic movement simply wasn’t there to spot.

This is why Gowers can be delayed, subtle, or completely missed in some children — not because it isn’t present, but because their mobility develops differently from the start.

Why Early Diagnosis Matters
Early intervention — through physiotherapy, steroids, cardiac and respiratory monitoring, and access to clinical trials — can significantly slow muscle damage and improve quality of life.
“Wait and see” is one of the most dangerous pieces of advice a Duchenne parent can hear.
If something feels off, trust your instincts. You know your child better than anyone.

The image shows Joshua aged 13months - we think he was cute then and he hasn't lost it 😉