Sarah had to wait more than a decade to receive a confirmed diagnosis of limb girdle muscular dystrophy (LGMD). She shares how this delay affected her mental health and also about her difficult experiences in the workplace.
“I had to work through 11 years of repressed grief when I was finally diagnosed.”

In 2011 I received a letter confirming I had limb girdle muscular dystrophy type 2A. This was eleven years after a doctor had said I “probably had the condition [muscle wasting] of some sort”. The weight of the unknown that I’d been carrying for over a decade hit me all at once.
At 41, I’m now a band eight Validation Manager in the NHS, but it hasn’t been easy to get to where I am today.
My ’sort of’ diagnosis
I’d struggled with sports from a young age, when we started doing cross country in high school I’d end up walking round the field because I fell flat on my face when I tried to run. I walked a bit like a duck and the kids at school called me penguin walker. After a while it started to get to me, so my mum took me to the GP.
I got referred from doctor to doctor who all said different things; ‘you’ve got loose ligaments in your feet’, ‘you’re asthmatic and that’s why you can’t run. Try this inhaler.’ Eventually I got referred to a neurologist who sent me for a muscle biopsy.
The biopsy came back inconclusive as I didn’t have a known strain of LGMD back in 1999, but the doctor said I probably had the condition. My parents were devastated and full of guilt. It was a bit of a relief to me as nobody could say I was lazy anymore.
Over the next ten years, I simply got on with my life. I went to Reading university to study Pathobiology. I moved back home after graduating and worked as a medical laboratory assistant for a couple of years until I qualified as a biomedical scientist.
In my mid 20s I moved out of my mum’s house into my own flat. She was nervous about me living alone in case I fell over, but I knew it wouldn’t be too long before I’d need more support with daily life, so I grabbed my chance.
Once I was settled in my own place, I decided to contact the hospital that did my biopsy when I was a teenager to see if they knew anymore now that science had advanced so much. They retested my sample − it felt weird knowing there’d been a small piece of me in a lab all that time − and more than a decade after my initial tests, I got a letter confirming I had LGMD type 2A.
“It was like experiencing eleven years of repressed grief at once”
I was really surprised by my reaction. I tried to tell myself I was being stupid. That having your condition written down on a piece of paper doesn’t make a difference.
” I’d been so focused on staying strong for my family when I got ‘diagnosed’ at 16. Now I had time to acknowledge what this meant for me.”
I’d never really accepted my disability, but I wasn’t able to ignore it any longer.
I went into a deep depression and had to have six months off work. Through counselling and finding a partner, I slowly built myself back up, but it was hard to work through eleven years of repressed grief.
Learning my rights
During this time, I moved to Cardiff to live closer to my partner. When I felt well enough to work, I found a job as a biomedical scientist. I was still able to walk at this point, but I tripped in the lab and had to have some time off to recover from my injuries.
“My employer said I couldn’t return to work unless I was in an electric wheelchair because I was a liability on my feet.”
After arguing that I couldn’t afford, and didn’t need, an electric wheelchair, they compromised and said I could come back in a manual wheelchair but wasn’t allowed to self-propel. It was so demeaning just answering the phones all day and having to ask for someone to push me if I needed the toilet or to go for lunch.
I eventually got given an electric wheelchair through the NHS. This created another struggle as my workplace wouldn’t put in a disabled toilet. I could just about use standard toilets, but one day I fell in the cubicle, so I was told I had to use the disabled toilet at the other end of the building through several heavy fire doors. It took so long for me to get there that I had a few accidents. They suggested I get a catheter. To avoid my current embarrassment, I had a surgical procedure to put in a Super Pubic Catheter (SPC).
Standing up for myself
Looking back now, I wish I had pushed back. But I just didn’t have the energy to fight for such basic human rights. I know my worth now. After a while I left that job and now have a band eight role in the NHS – better than any career progression I could have got at my previous workplace. My first day was amazing. They asked me what adaptions I needed to be comfortable and have my needs met. It was like a breath of fresh air.