Tia Rey can’t remember a time when she wasn’t feeling achey, but she’ll never forget the day she was told that the painful twinges were a sign that she was living with a rare and incurable autoimmune disease.
Ms Rey, 23, was told that she has anti-synthetase syndrome (ASS) in January this year, a condition which causes painful symptoms such as muscle inflammation, arthritis, fatigue and shortness of breath.
Last June, the customer care adviser, from Liverpool, noticed a rash spreading from her feet, swelling in her fingers and stiffness in her joints, leaving her concerned that something was ‘seriously wrong’ and it was time to seek medical help.
Her GP sent her home with different creams but ‘nothing was working’, so she was referred for a dermatology appointment.
In November 2024, while waiting for a slot with a dermatologist, Ms Rey hurt her hand while moving a sofa into the flat she shares with her partner.
Feeling as though she had broken or fractured a finger, Ms Rey showed her boss at the leisure centre where she works her injury—but he noticed all her fingers were swollen.
She said: ‘I was showing him how swollen my finger was, and he said, “which finger?”
‘It was then I noticed all my fingers were swollen on both hands, not just the one I injured.’
She went to see her doctor about her injured finger, but also noticed around this time that her joints were becoming stiff and sore.
‘I didn’t really know what was going on, but it got to the point where I couldn’t put my arms over my head and my partner was having to dress me before work,’ she said.
‘It was getting worse every day, and it got to the point where I was genuinely in tears trying to get ready.’
Her doctor arranged a blood test, where it was found her ALT levels—measuring her liver function—were elevated above normal.
She went to hospital in January this year where she was given an emergency appointment with a rheumatology specialist.
Ms Rey was diagnosed with ASS, which is so rare it’s estimated that there are one to nine cases per 100,000 people worldwide.
‘I had no clue what it was, so I called my mum and told her before either of us had looked it up online,’ Ms Rey said.
‘She hung up, searched it and called me back in tears – which is when I realised something was really wrong with me.’
According to the NHS, ASS is caused by the immune system being overactive, and can bring a host of symptoms such as inflammatory arthritis and mechanic’s fingers or hands, where the skin on the sides of the fingers becomes dry and cracked.
Ms Rey suffers with a variety of symptoms with the condition, such as fatigue, muscle inflammation, problems with her mobility and diastolic dysfunction—a condition impacting her heart.
‘Walking or standing for certain periods of time, my ankles are in agony,’ she said.
‘I have good and bad days with my knees, but they can lock on me or just feel in pain.’
Another symptom connected to the condition is interstitial lung disease (ILD), causing lung inflammation or irreversible scarring, according to the NHS—which Ms Rey also has.
‘It’s only mild at the moment, but I’m very breathless with it—even when walking up a flight of stairs,’ she said.
Ms Rey struggles to walk or stand for long periods of time, her knees can often ‘lock up’ and she becomes breathless after going up a flight of stairs—and while it is unknown what has triggered the condition, she feels stress has played a major part.
‘At the time things started, I was working three jobs—I always feel like I deal with stress very well, but obviously it was taking a toll on my body.’
Ms Rey said the condition has also impacted her mentally and emotionally.
‘I was in denial at first, I was just trying to get on as if things were normal, but I couldn’t,’ she said.
‘It started to hit me that I’m not the same anymore and there are things I can no longer do.
‘I’m very close with my cousins and growing up, I used to play with them all the time, but I can’t do it anymore, it’s horrible.
‘It all started to take a toll on me and I didn’t realise, but I started to go through a bit of a breakdown.’
She added it is not known why the condition has been triggered at this stage in her life, but she feels stress plays a big part.
Ms Rey now uses a mixture of medications to manage her symptoms, such as steroids.
She said her consultant has also suggested starting rituximab infusions though an IV drip, a medicine used to reduce the activity of the immune system, according to the NHS.
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She is currently waiting to see if she can have the treatment via the NHS as she said it is expensive—with one course costing around £10,000 if sought privately.
She has launched a GoFundMe page with the aim of covering some of the fee, but stated any donations will be refunded if she can receive it without the need to pay.
Ms Rey said the main aim of the fundraiser however is to raise awareness of the condition and connect with fellow patients and specialists.
Looking ahead to the future, Ms Rey said she is taking ‘every day as it comes’.
‘I’m trying to accept the reality of the situation, and I’ve got to keep a positive outlook,’ she said.
‘At the end of the day, I’m still here and it could be worse—things could always be worse.
‘I’ve always had a plan for my life, whether that’s in my career or wanting to have children someday, but now it’s all really uncertain and I don’t really know what to expect.
‘One thing that has got me through this is learning to appreciate everything around me.
‘I appreciate life so much more now because you never really know what tomorrow can bring.’
