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'It won't be that it's very rare'

By Tilly Rose

A post in honour of Rare Disease Day:

'It won't be that it's very rare'

When my mum and I present our suggestions to doctors, this is more often than not, the response we are met with.

After 13 years of pneumonias and emergency bowel resections, with no answers, I would turn around and say 'but if it wasn't rare, wouldn't we have found it already?'

It, eventually, turned out I'd be living with 13 years of undiagnosed, active M. bovis Tuberculosis from drinking unpasteurised milk - RARE.

A few years later, I became unwell again with a whole host of vague symptoms; extreme weakness, fatigue, morning nausea, leg pain, flank pain, sweats, brain fog. I did the rounds of doctors again and again. When no one could find the cause, I was referred to a psychologist. She told me I needed to 'adapt to life as a well person'. 'But I don't feel well,' I thought. Two weeks later, I went into my first adrenal crisis and was diagnosed with Addison's Disease - RARE.

I was stressed not because of a psychological problem but because I had NO cortisol (the body's stress hormone!).

In the years that followed, my life totally spiralled out of control. More and more symptoms were added to the list, culminating in a 3 month admission in hospital. Day one, the medics were lovely to me, crying at my bedside, as my body went into excruciating attacks. 6 weeks on, when no one could identify the cause, I took to Instagram to ask my followers for suggestions. The response was overwhelming. People from all over the world got in touch with diagnosis ideas, test suggestions and treatment options. We compiled these into a list and presented them to the doctors.

'It won't be that, it's very rare,' they said to us. I couldn't get my head around this. Every team had been to see me. No one had reached a diagnosis. Surely this had to be something rare. Instead, when they couldn't find an answer, they did what they have so often done before, they sent in psychiatry.

After being discharged home, still in a real state, with no diagnosis, my mum continued her relentless research. She started looking more into MALS (something my followers had suggested). MALS is part of a group of rare syndromes, called vascular compressions. Whilst it didn't fit exactly, mum found out you could have these vascular compressions all over your body. She learnt that there was an expert in Germany, who had a specialist scanner which was able to detect compressions, not always seen on other scans. When it became evident that no one in the UK was searching for a diagnosis anymore, my mum proposed we headed to Germany.

In November 2023, I had a unique, 4D Doppler scan in Leipzig, Germany. I was diagnosed with multiple vascular compressions explaining ALL of my symptoms - RARE.

I hope this post shows you that RARE does not mean IMPOSSIBLE. There is a reason for everything. Never give up on that quest for answers.


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