Zoe was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) in 2024 after having unexplained symptoms for almost 10 years. Now that she has a diagnosis for her condition, she is passionate about raising awareness. She shares her long diagnosis story, what she’s found helps to maintain her mobility and reduce pain, and the picnic in the park she’s holding on World FSHD Day.
I had to wait 10 years to be diagnosed with FSHD. I don’t want that for others
The signs were always there
I would say my symptoms started when I was around 18 or 19. Although even at yoga classes I would go to as a teenager with my mum, I remember not being able to do certain positions.
At first, it was things like not being able to raise my arms properly and having weak core strength during fitness classes. There wasn’t much pain at that stage, so I didn’t think too much about it. My shoulder blade has been visibly elevated for nearly as long as I can remember.
Everything became harder to ignore when I moved to Japan at the age of 22. The pain started becoming more noticeable, particularly around my shoulders, back and neck. I was teaching children, which is a very active job, and even writing on a whiteboard was painful because it meant holding my arm up for long periods.
I started seeing a chiropractor who helped me build a stretching routine and encouraged me to keep exercising, but the language barrier was hard, and I was in a very rural area. Then Covid happened and I was completely isolated on the other side of the world. I ended up not seeing my friends and family for around two and a half years.
My mental health wasn’t great, and my physical health was deteriorating. Eventually, I realised I needed to come back to London.
You’ve been on the wrong path this whole time
When I returned to the UK, I thought finding out what was wrong would become easier, but it still felt like a never-ending journey. For two years I was under an orthopaedic department and repeatedly told that all I had was severe scapular dyskinesia. But I just knew it was more. I guess you know your own body.
I had some really frustrating encounters over this period. One physiotherapist would ask me to raise my arms every week, despite the fact I told him it was painful and something I physically couldn’t do properly. It felt like nobody really knew what to do and they were making it up as they went.
The turning point came when I had nerve conduction tests and met a neurophysiologist. He took one look at my smile and immediately suspected FSHD. I remember him saying, “You’ve been on the wrong path this whole time.” It was surreal that he knew that quickly, when I’d been searching for answers for nearly a decade!
After being referred to the National Hospital for Neurology and Neurosurgery at Queen Square and having genetic testing, I finally received my diagnosis in November 2024. It was a real mix of emotions having waited so long to know what was happening to my body.
Living with an invisible condition
One of the hardest things before diagnosis was feeling like people didn’t always believe me. When I moved back to London, I worked as a receptionist in a restaurant. I was open about my back and neck pain from the beginning, but over time my role started including tasks that were physically difficult for me. There was a high cloakroom cupboard where staff had to put away heavy coats. When I repeatedly explained that I couldn’t do it, colleagues would pull faces and roll their eyes if I asked for help.
I’ve adapted a lot of my daily routines now. Most things involve making sure my elbows are supported. Whether it’s brushing my teeth, styling my hair or getting dressed, I usually need a surface to lean on. I keep things at accessible heights around my home and use a step in the kitchen when I need it.
Exercise is still important to me. I’ve learned that movement helps, but I’ve also learned that I can’t push through in the way I used to. Pain is one of my biggest symptoms. Stretching, Pilates, physiotherapy exercises and self-massage all help, but pain is something I live with every day.
Fatigue is also a big part of life with FSHD. I’ve almost become used to it because it’s been part of my life for so long. Sometimes I’ll come home from what most people would consider an ordinary day and feel like I need to lie down immediately.
Why I’m speaking out on World FSHD Day
Before my diagnosis, I’d never heard of FSHD, and to this day I’ve never met anyone with my condition. I want to change that.
This year, I’m organising a community picnic in a local park in Barnet to raise awareness of the condition and hopefully bring people together. Everyone’s experience is different, but hearing other people’s stories has shown me how important awareness and community can be.
The picnic is open to family, friends and anyone who wants to learn more about FSHD. People can wear orange, bring a picnic and help raise money through donations. It’s about more than fundraising though. I hope the picnic helps start conversations, raises awareness and helps others feel less alone.
