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“I had to work through 11 years of repressed grief when I was finally diagnosed.”

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.

A photo of a lady talking to a man in an orange t-shirt

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. 

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