FSHD: Another Misdiagnosis

At 13, one skating accident ended the thing I loved most, and I never skated again. I was gutted. However, it started my health journey. Then, at 14, came 04/04/1997.  

Polymyositis was diagnosed. A condition that, at the time, belonged to elderly women, not teenage boys. They gave me a life expectancy of two years. They didn’t understand it, but needed a box to put me in, and that was the box. So I lived in fight mode, and every boundary set, every expected but unreachable date, I blew straight past. Life kept going.

At 25, everything changed. They used my biopsy from years earlier, ran it through newer technology, and came back with: “We misdiagnosed you.” It wasn’t Polymyositis. It was FSHD, Type 1.  

My world shifted — my prognosis, expectations, what I might pass on to my children, and the way I understood my own body. It hit my marriage too. Becoming the full‑time carer of someone who is slowly deteriorating is difficult. Not everyone can do it. It wasn’t the only reason my marriage ended, but its weight affected us.

My mental health took a hit. It took years, but eventually I adjusted. When the boys were born, I carried that inheritance fear — that 50/50 coin toss — until we finally had them tested when they turned 8. Negative. Relief like I’d never felt before. 

Life moved on. My health declined, but I made peace with it. I met Hannah. Married her. She knows the real me, and loves me anyway. Even though loving me means being a carer, we’re still us. It’s hard, but we’re happy.

Then a video appointment with my specialist last week happened. We hadn’t seen him in four years. Appointments are usually every 18 months, and if you miss one, you wait another 18 months. We didn’t think we’d missed anything, but no new date ever came. Turns out a system update meant I was lost in the digital void. Thankfully, when I chased it, they squeezed me in for this last‑minute appointment.

The appointment was the usual: check FSH‑areas and discuss what I can and can’t do now. Nothing surprising. Nothing I hadn’t already written about recently. Then the atmosphere shifted.

There’s always been a question hanging over me: why am I in the top 1% of severity? FSHD varies wildly, even within families. Some have mild facial weakness, shoulder issues, stay mobile for decades, and some end up in wheelchairs early. There’s no typical presentation. I’ve always been… different. Severe. No one knew why.

I’m adopted, so no family history to compare. I met my birth mum, and everything about her screamed FSHD, but she refused testing. When the relationship became toxic, I walked away. My chance for clarity died in December 2024 with her.

Four years ago, my doctor took blood to explore a theory: maybe I had a double dose of FSHD, one from each biological parent. A million‑to‑one scenario, but possible. I’d forgotten about it. He hadn’t.

I don’t have both. I only have one. However, the original diagnosis of FSHD1 was wrong. I have FSHD2.

FSHD1 and FSHD2 outwardly look the same. The same muscles weaken. The same areas are affected. The same slow progression. The difference is in the why. FSHD1 is caused by a chunk of DNA on chromosome 4 being shorter than it should be. FSHD2 isn’t about a shortened chunk at all; it’s a gene that keeps things switched off failing to do its job. In both types, a protein that should stay silent switches on in muscle cells, and that causes the damage, but the route to that switch is different. FSHD2 needs two separate things to go wrong. It’s still 50/50 in theory, but in real life it’s inherited less often than FSHD1.

Suddenly, some of my severity makes sense. FSHD2 is known for being unpredictable. Some barely notice it. Others, like me, get hit hard. It doesn’t change what’s already happening in my body, but it does explain why my progression has never quite matched the “usual” FSHD1 pattern. It also means that some of the things we’ve blamed on “bad luck” or “my version” might actually be due to FSHD2. There’s no new treatment, but it gives context.

It still knocked the wind out of me. The boys were tested for Type 1. Not Type 2. My relief has evaporated. Now I’m seeing zebras everywhere. For anyone who doesn’t know the phrase, doctors are taught: “When you hear hoofbeats, think horses, not zebras.” Meaning: look for the common explanation, not the rare one. Living your whole life with FSHD makes it hard not to see it. The hypermobility, tired legs, winged scapula, thin arms, and speech issues. Are they signs? Are they nothing? Am I carrying the guilt again?

FSHD2 is harder to inherit, and no one knows why. Yet it still happens. Now I’m left with more questions than answers. Does it change anything? Why am I still in an unexplainable top‑severity bracket? I don’t know, and I'm not sure this diagnosis will answer these questions.

It’s just another thing to get my head around. Nevertheless, here we are — still talking, figuring it out, living it, but one confusing twist at a time.