By Stacey

People often ask me when my journey with HMERF began.

The truth is… it began long before I was born.

It began with my nanna.

As a child, I didn’t realise that what I was seeing wasn’t normal. My nanna always seemed to have another chest infection. It felt like she was always poorly, always in hospital, always trying to recover from the next illness. To us, it was just life. We had no idea those chest infections were the first signs of a rare genetic condition that none of us had ever heard of.

Then our whole world changed.

My nanna became critically ill.

The following years were filled with fear, uncertainty and heartbreak. Around eight years of our lives were spent in hospitals. We travelled between different hospitals, met countless consultants and specialists, and heard so many different opinions that we no longer knew what to believe. Every appointment gave us hope that someone might finally have the answer, but instead we were left with more questions.

As her muscles weakened, breathing became harder and harder. Eventually she needed a tracheostomy to stay alive.

Watching someone you love fight every single day is something that never leaves you.

Hospital became normal.

Machines became normal.

Waiting for phone calls became normal.

Living with uncertainty became normal.

Then, after years of searching, we finally got an answer.

HMERF.

Hereditary Myopathy with Early Respiratory Failure.

A rare muscle disease caused by a fault in the TTN gene.

It explained everything.

The weakness.

The chest infections.

The breathing problems.

The gradual loss of independence.

Finally, everything made sense.

But with that diagnosis came another devastating reality.

It was hereditary.

Suddenly, this wasn’t just my nanna’s diagnosis.

It belonged to our whole family.

Not long afterwards, my mam was diagnosed too.

Looking back, the signs had always been there. She was constantly aching, exhausted and struggling with things other people seemed to do without thinking. She fell more often than she should have. Her muscles became weaker, yet for years she was told it was arthritis, getting older, or simply one of those things.

It wasn’t.

It was the same disease.

Eventually her breathing became affected too. Carbon dioxide started building up because the muscles responsible for breathing were weakening. Another generation was following the same path.

Then came me.

I was only sixteen years old.

I wasn’t tested because I couldn’t walk.

I wasn’t tested because I couldn’t breathe.

I was tested because of headaches.

Just headaches.

None of us imagined those headaches would lead to a diagnosis that would change my life forever.

When my test came back positive, suddenly my entire childhood made sense.

Why I was always so exhausted.

Why my whole body constantly ached.

Why climbing stairs felt impossible some days.

Why my legs felt so heavy.

Why I struggled to keep up with everyone else.

Why I felt different.

For years I blamed myself.

I thought I was lazy.

I thought I just wasn’t fit enough.

I was made to feel that because I was overweight, that must be why I struggled. People assumed losing weight would fix everything.

It didn’t.

Because the problem wasn’t my weight.

The problem was that my muscles were already becoming weaker.

Living with HMERF is so much more than muscle weakness.

The pain is almost impossible to explain.

Imagine the feeling after you’ve run the longest race of your life, climbed mountains or spent an entire day lifting heavy weights.

Now imagine waking up feeling like that before you’ve even got out of bed.

Every single day.

Some days the pain burns.

Some days it throbs.

Some days it feels like every muscle has been bruised.

Some days my body feels so heavy that simply standing up feels like hard work.

Then there’s the fatigue.

People hear the word “tired” and think they understand.

They don’t.

This isn’t staying up too late.

This isn’t needing an early night.

This is the kind of exhaustion that sleep can’t fix.

It’s feeling like your body has no battery left.

It’s needing to plan every part of your day because doing one thing often means sacrificing another.

People see an hour of my life.

They don’t see the recovery afterwards.

They don’t see me paying for it later.

They don’t see the days spent resting because my muscles simply won’t do what I ask of them.

As the years have passed, HMERF has continued to progress.

I now live with early respiratory failure.

Knowing your breathing muscles are becoming weaker is frightening.

Breathing is something most people never think about.

For me, it’s something I can never completely forget.

Because I’ve watched this disease through three generations, I know what it can do.

That knowledge is heavy to carry.

One of the biggest challenges of living with a rare disease is constantly having to fight.

Fight to be heard.

Fight to be believed.

Fight for referrals.

Fight for support.

Fight for equipment.

Fight for understanding.

Fight against assumptions.

Fight against people who think that because you look okay, you must be okay.

Living with HMERF often means becoming an expert in your own condition because so few people have even heard of it.

That fight is exhausting in itself.

Then there is motherhood.

Becoming a mum is the greatest gift I have ever been given.

It is also one of the hardest parts of living with HMERF.

I want to run around with my girls without thinking about tomorrow.

I want to carry them whenever they ask.

I want to say “yes” to everything.

Sometimes my heart says yes…

…but my muscles say no.

There are days when I have to sit instead of stand.

Days when I have to conserve energy just so I can make tea, help with homework or cuddle my children before bed.

The guilt can be overwhelming.

Not because I don’t love them enough.

But because I wish my body allowed me to do more.

One of the hardest thoughts I carry is knowing this disease is inherited.

I know what it has done to my nanna.

I know what it has done to my mam.

I know what it is doing to me.

As a mum, you can’t help but worry about the future. Those thoughts are heartbreaking, but they also remind me why awareness, research and earlier diagnosis matter so much.

HMERF has taken so much from my family.

It has stolen strength.

Energy.

Breath.

Independence.

It has stolen years while we searched for answers.

But it has never taken our love for one another.

It has never taken our determination.

And it has never taken our hope.

If my family’s story helps even one doctor recognise the signs sooner…

If it helps one family finally get answers…

If it helps one person living with HMERF feel less alone…

Then every word I’ve written has been worth it.

This is our story.

Three generations.

One rare disease.

A lifetime of fighting.

And a family that refuses to give up.