Jaxson's Journey with DMD

03/04/2026

Know the signs 🚨

We/everyone always thought his gait was cute. It was "just Jaxson" and we thought maybe he was a little unportioned. Until we learned why..it's not cute anymore. It's a dagger and also something we cling to until it won't exist anymore.

Duchenne gait is a characteristic walking pattern in children with Duchenne Muscular Dystrophy (DMD) caused by progressive weakness of the hip and knee muscles. It typically presents between ages 3–5 as a waddling gait, excessive lumbar lordosis (swayback), toe-walking, and a wide-based stance to maintain balance.

Key Characteristics of Duchenne Gait:
📌Waddling Gait: Due to pelvic girdle weakness, the pelvis drops on the swinging side, causing the trunk to sway side-to-side.
📌Hyperlordosis (Swayback): An exaggerated inward curve of the lower spine occurs as the child pulls their shoulders back to compensate for weak hip muscles.
📌Toe Walking: Children often walk on their tiptoes to manage balance and compensate for weak knee extensors.
📌Increased Lumbar Lordosis: The belly is pushed forward while the shoulders are tilted backward, leading to a "double bump" pelvic tilt.
📌Reduced Stride Length: Steps are smaller, and the base of support is wider

03/02/2026

If you need a good laugh today.

Always leave it up to Jaxson 😂😂😂😂 this was a moment I was so thankful we had a camera to catch 🤣🤣

Big sis tells a joke, Jaxson laughs, the she asks him "did you even get that?"

"Yup, yup, that's a joke 🤪"

02/28/2026

Please reshare:

Rare Disease Day is observed every year on 28 February (or 29 February in leap years—the rarest day of the year). It was established and is coordinated by EURORDIS in partnership with over 70 national alliance patient organisations. The day serves as a powerful focal point, driving advocacy efforts at local, national, and international levels.

Duchenne (pronounced dü-shen) muscular dystrophy (DMD) is the most common fatal pediatric disorder. Duchenne is a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and ultimately, premature death. Children with Duchenne are born seemingly healthy and decline over time, typically losing their ability to walk around the age of 12 and succumbing to the disease in their early to mid-twenties. Duchenne has no cure.

Rare Disease Fast Facts
300 million people worldwide are living with a rare disease.

Equity for people living with a rare disease is equitable access to diagnosis, treatment, health, social care and opportunity.

Rare disease currently affect 5% of the worldwide population.

72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes or are rare cancers.

70% of genetic rare diseases start in childhood.

Duchenne Fast Facts
There are approximately 15,000 individuals living with Duchenne in the USA.

Accessible equipment, like accessible vehicles, are often not covered by health insurance, making critical items financially out of reach for many families.

Duchenne impacts the whole family. Parents, siblings, relatives, and friends often don’t get the support they need to navigate a diagnosis alongside their loved one.

Duchenne still has no cure. But, there is so much hope. Research and advocacy work have helped increase treatment options and show promising results.

Donate today to find a cure 🙏🏼

02/28/2026

A letter from a mum in a rare disease household

Dear world,
Living here is loud in ways you can’t hear.

Our home carries words most people never have to learn — Duchenne, PVL, hypertriglyceridaemia. Autism. ADHD. Learning disabilities. Conditions without neat labels. Sleep that doesn’t come. A bowel that doesn’t behave. Questions that sit unanswered for years.

And alongside all of that, the man I share this life with — kidney cancer survivor, bowel cancer survivor, now living with severe heart dysfunction — still showing up every day as a dad.

Rare disease doesn’t affect one person.
It reshapes an entire family.

Our calendar isn’t months. It’s appointments.
Our normal isn’t predictable. It’s adaptive.
We measure time in test results, waiting lists, and tiny victories that feel enormous.

Some days I am a nurse.
Some days a researcher.
Some days an advocate.
Some days a taxi driver.
Some days I am just a mum trying to keep everyone afloat while quietly wondering how much weight a heart can hold before it cracks.

There is grief here. I won’t pretend there isn’t.
Grief for ease.
For certainty.
For the life we once assumed would unfold in straight lines.
But there is also a love so fierce it has rewritten me.

My children are not tragedies.
My husband is not a diagnosis.
This life is not broken — it’s just heavier than most.

Rare Disease Day asks for awareness, but what families like mine need is understanding. Support. Systems that don’t require us to fight for every inch of help. A world that sees rare not as an exception, but as a community that deserves to be held.

Tomorrow we will wake up and do it again.
Medications. School runs. Hospital calls. Laughter in between.
Because even in the hard, there is still joy here.

We are tired.
We are proud.
We are still standing.

And that counts for more than most people will ever know.

Love,
Me, Mum in a Rare Disease Household

02/28/2026

Hope is heavy when your child can't wait.

Tomorrow is Rare Disease Day. Tonight, I'm thinking about all the headlines I've read over the years.

"Promising research."
"Breakthrough in trials."
"New therapy shows potential."

And every single time, buried in the article: "Phase 1 trials expected to begin in 2-3 years."

My son doesn't have 2-3 years to wait for trials to begin.

He's aging out of hope in real time.

Clinical trials move slowly. Science takes time. I understand that. I do.

But children don't have time.

Every month that passes, he loses a little more. Every year, he's further from the age range researchers are looking for. Every breakthrough I read about comes with eligibility criteria that might exclude him by the time it's ready.

Too old.
Too progressed.
Too late.

This is what rare disease families live with: hope suspended between headlines and heartbreak.

We celebrate every research announcement because what else can we do? We have to hope. We have to believe something is coming.

But we also watch our children grow. We watch them lose abilities while we wait for treatments that are "just a few years away."

We refresh research websites. We join every trial we can. We travel hundreds of miles on the chance he might qualify. We hold our breath through every assessment, hoping he's not too far gone, not too old, still eligible.

Still in time.

Because here's the truth they don't put in the headlines: rare disease research isn't just slow. For some children, it's too slow.

By the time the treatment is approved, they've aged out.
By the time the trial opens, they've progressed too far.
By the time hope arrives, it's too late for them.

I am so grateful for the researchers, the scientists, the people fighting to find answers. I am. They're doing incredible work.

But I'm also angry. And terrified. And exhausted from living in this limbo.

From reading "promising results" while watching my son's legs get weaker.

From hearing "game-changing therapy" while knowing he might not be a candidate by the time it's available.

From holding onto hope that feels heavier every year.

Tomorrow, on Rare Disease Day, people will share statistics. They'll talk about the need for funding and awareness.

And they should. We need both desperately.

But tonight, I'm thinking about the children who can't wait for the science to catch up.

The ones who are running out of time while the world runs trials.

The ones whose parents are watching research move forward and their children move backward.

Hope is heavy when your child can't wait.

And we're all carrying it anyway.

02/26/2026

https://gofund.me/15f1b724b

The money nobody talks about.

Rare disease is expensive in ways families never choose.

People see the diagnosis. They don't see the receipts.

The mileage to specialists three hours away, every month, ever few, sometimes every week. The fuel. The parking. The meals you grab because you left at 6am and won't be home until dark.

The equipment that isn't quite covered. The wheelchair adaptations. The bathroom modifications. The stairlift you never imagined needing when your child was still so young.

The physiotherapy appointments. The hydrotherapy sessions. The orthotics that need replacing as he grows.

The days you can't work because there's another appointment, another hospital admission, another crisis. The promotion you didn't go for because you can't commit to the travel. The career you quietly let go of because something had to give.

The hotels near the specialist centre. The meals out because you're too exhausted to cook. The emergency taxi when he couldn't manage the walk from the car park.

It adds up.
And up.
And up.

Not in dramatic ways. In a hundred small ways that no one sees. In the bank balance that never quite recovers. In the holiday you don't take. In the savings that were meant to be for his future, spent on his present.

People ask if we're okay. We say yes, because what else do you say? But rare disease doesn't just cost us emotionally.

It costs us in ways that are impossible to explain to people who've never had to choose between the equipment their child needs and paying this month's bills.

This Rare Disease Day, I'm saying it out loud: rare disease is bankrupting families. Quietly. Relentlessly. While we smile and say we're managing.

02/26/2026

Rare disease parents grieve and celebrate at the same time.

I didn't understand this before Duchenne. How you could feel both things at once. How your heart could be so full and so broken in the same moment.

But here's the truth: grief isn't one event. It comes in waves.

It comes when he takes his first steps with a walker, and you're cheering and crying because he's doing it, he's really doing it—and you're also mourning the steps that should have come easily.

It comes at his birthday party when he blows out the candles and you're celebrating another year, another milestone—while quietly counting how many more you might have.

It comes when other parents complain about their kids running wild, and you smile because you'd give anything for that problem.

Grief lives alongside joy in rare disease families. Not instead of it. Alongside it.

We celebrate milestones others overlook. We throw parties for things like "still walking at 10" or "managed the stairs today." We take photos of moments that seem ordinary to everyone else but are extraordinary to us.

Because we know. We know how precious these moments are. We know they're not guaranteed.

So yes, we grieve. We grieve futures that won't happen and abilities that are slipping away. We grieve in the middle of the night and in hospital corridors and in the silence of our own thoughts.

But we also celebrate. Fiercely. Loudly. With everything we have.

Because loving a child with a rare disease means holding both truths at once: the heartbreak and the joy, the loss and the gift, the grief and the gratitude.

It means your heart learns to be bigger than you ever thought possible.

Big enough for both.

02/26/2026

The unavoidable has begun- the medical binder and bag. 💉

I've put it off for far too long, but given some risks with this new steroid we are about to begin (see post on adrenal crisis), I had to start, so school and anyone watching Jaxson has resources for emergencies. 🚑

The hardest part. This is the most simple and smallest binder we will ever have. It will grow in size and complexity as time continues to fly by.🏥

Someone

Would appreciate any other tips, suggestions, etc for the loathed binder from other DMD families ❤️‍🩹

Next... An organization system for all his docs, bills, records, resources, etc.. 👎🏼

02/24/2026

02/24/2026

❤️‍🩹

1 in 17 people live with a rare disease. Most are children. Most people know someone affected and don't realise it.

Before Duchenne, I thought rare meant unlikely. Now it's our everyday life.

Rare means watching other parents worry about whether their child will make the football team, while you wonder if yours will keep walking.

Rare means becoming fluent in a medical language you never wanted to learn. Dystrophin. Cardiomyopathy. Corticosteroids. Words that sit heavy in your mouth.

Rare doesn't mean what I thought it meant.

It doesn't mean distant or far away. It means isolating. It means your child's name on a diagnosis that most doctors have never seen. It means specialists who are hours away, clinical trials that might not happen in time, and a future that looks nothing like the one you imagined.

Rare means the loneliness of sitting in waiting rooms where no one else is waiting for the same thing you are.

Rare means no one brings you casseroles. There are no awareness ribbons on cars in the school car park. No walks or runs in your town. Just you, learning to be your child's fiercest advocate while pretending to the world that you're holding it together.

It means googling at 2am because no one in your life understands what you're going through. It means explaining, over and over, to family and friends who mean well but can't quite grasp it. It means sometimes stopping trying to explain at all.

It means people asking how your child is doing, and you not knowing how to answer. Because how do you say it? How do you make them understand without watching their face change, without becoming the family people whisper about?

So you smile. You say "fine." You keep it rare — which is to say, you keep it quiet.

Rare diseases might be rare individually, but collectively they affect 300 million people worldwide. That's not rare. That's just invisible.

Rare means being surrounded by people but feeling utterly alone.

But here's what I've learned: rare doesn't mean isolated. There's a whole community of us — parents loving fiercely, fighting tirelessly, carrying more than anyone should have to carry.

On Rare Disease Day, we're not asking you to fix it. We're asking you to see us. To know that we're here, in your schools, your neighbourhoods, your social media feeds. Really look. At the mum in your child's class who seems tired. At the family who can't make weekend plans. At the people living full, complex, heartbreaking, beautiful lives in the margins.

We're here. We've always been here.

Living with rare isn't unlikely.

It's just invisible.

Until it's not.

02/24/2026

The long road to answers

Before families can fight a rare disease, they have to fight for a diagnosis.

For rare disease families, the journey often begins with a gut feeling that something isn't right. But that feeling is met with:
→ An average of 4–7 years before getting answers
→ Multiple misdiagnoses along the way
→ Being dismissed as "anxious parents" or told "let's wait and see"

Imagine knowing your child needs help but being unable to get anyone to listen. Imagine watching symptoms progress while doctors tell you everything is fine. Imagine the relief mixed with devastation when you finally get a name for what you've been seeing all along.

For Duchenne muscular dystrophy and thousands of other rare diseases, early diagnosis can mean earlier intervention, better outcomes, and precious time. But too many families are still fighting to be heard.

This Rare Disease Day, let's acknowledge the diagnostic odyssey that rare disease families endure—and commit to believing parents who know something is wrong.


If you're a rare disease parent who fought for your child's diagnosis, drop a 💙 below. You're not alone, and you were right to keep fighting.

02/22/2026

💙 Duchenne Mum Explainer: Creatine vs CK (Because the Names Are Confusing!)

One thing I wish someone had explained clearly at the beginning of our
Duchenne muscular dystrophy journey is this:
Creatine and creatine kinase (CK) are NOT the same thing.

And when you’re already overwhelmed, those similar names can really throw you.

Here’s how I understand it now:
✨ Creatine is something our bodies naturally make. It helps muscles produce quick energy — like a little rechargeable battery inside the muscle cells.

When people talk about supplementing, they usually mean
Creatine monohydrate — which is just a stable powdered form of creatine.
It’s something you give (with medical guidance).
🧪 Creatine kinase (CK) is completely different.
It’s an enzyme that lives inside muscle cells. When muscles are damaged — like in Duchenne — CK leaks into the bloodstream.
That’s why our boys often have very high CK levels. It’s not caused by creatine supplements. It’s a marker of muscle breakdown.

So the simple way I explain it now:
Creatine = muscle energy helper
CK = blood test marker of muscle damage

Two different things. Similar names. Totally different roles.

Taking creatine monohydrate does not typically raise CK levels in the way Duchenne does. CK is high because of the lack of dystrophin and ongoing muscle breakdown — not because of creatine levels.
That distinction really matters.

If you’re newly diagnosed and trying to make sense of all this — I see you. The terminology alone can feel like another mountain to climb.

We learn. We ask questions. We add things to our clinic lists. And we keep advocating 💙