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“Rare diseases actually are all around”

Ok, so it might not be as good of a catch phrase as Hugh Grant’s ‘Love actually is all around,’ but hear me out because it’s true. We all know that rare diseases are individually rare, but collectively common. As it turns out, they are pretty commonly found all around us too – we just don’t always notice them straightaway.

Whenever people ask me what I do as a job, I tell them I work for a rare disease charity, which I often follow with a ‘yeah, I know, pretty niche right?’ Looking back on these interactions, I tend to feel that by labelling them as niche, I am only pushing them further into the corner they have repeatedly been left in. Actually, all it takes is a quick glance at the world around me, and at the listings on BBC iPlayer or 4+ one, to see that rare diseases have been in our faces the whole time.

Even just from my own experience, rare diseases pop up all the time outside of my work at Findacure. Only recently did I find out that the condition my aunt and uncle live with is a rare condition called spondyloepiphyseal dysplasia. My sister mentioned in passing the other day that her boyfriend’s auntie was unable to attend a family wedding due to a diagnosis of PKU. A few years ago, my good friend spoke to me about her sister’s experience of living with Cystic Fibrosis and the impact that it had on her family. Just yesterday I spoke to my housemate about a friend with a family history of Haemochromatosis. The list goes on and on. I am sure that it will continue to expand.

All you need to do is turn on the telly to find some more examples of rare diseases being everywhere. A quick scroll through 24 hours in A&E or DIY SOS shows rare diseases appearing in a large majority of episodes; from Ehlers Danlos Syndrome and Motor Neurone disease to multiple system atrophy and rare juvenile arthritis. Children in Need, which raises millions of pounds every year from the general public, has featured many stories of children living with rare diseases who they’ve helped through their funding.

I realise that just by listing the rare diseases I have come across doesn’t do much to address the point that I am trying to make. My point is that rare diseases are everywhere and staring us in the face a lot of the time. In fact, we are giving money to causes that benefit rare disease patients without maybe even knowing it.

Something that connects these examples is that rare diseases all pop up in isolation to each other, which reminds me of another response I often get when I tell people where I work: ‘Rare diseases? Which ones?’ But that’s just the point! Rare diseases and their impact cannot be considered in isolation. The community is too big and varied. The diseases are too rare to be looked at on their own. Rare diseases often get shrouded in a fair amount of misunderstanding due to their long and scary names and the uncertainty that comes with the word ‘rare.’ That’s why awareness is so important and why I will continue to bang on about rare diseases at every family event and social gathering I attend. I will also continue shouting ‘That’s a rare disease!’ every time they get mentioned on TV.

Rare disease has been a part of my life since the day I was born. I just never saw it, and further, I never thought to ask. This is why now I want people to care about rare as much as I do and actually look up to see rare for the first time staring back at them.

Rare diseases actually are all around

by Philippa Norman time to read: 4 min