What's it like to be rare? - News - The Lily Foundation
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What's it like to be rare?

Personal stories Awareness

13 February 2023

It’s Rare Disease Day on February 28th, so to shine a spotlight on the millions of people around the world living with a rare disease, we asked mitochondrial disease patient Amy to tell us what it’s like to be rare.

A head shot of a smiling woman with shoulder length brown hair A young mito warrior in a safety helmet at the Lily Young Adult Support Weekend A young adult mito warrior in a sparkly dress at the Lily charity ball A young adult mito warrior in a green dress posing in front of a red vintage car

In lots of ways Amy’s just like any other twenty-something. When she's not studying for her Master’s degree in Film & TV Production, she loves hanging out with her friends, eating good food, listening to cheesy pop music and watching TV in the comfort of her bedroom. But Amy is also very rare, because she suffers from mitochondrial disease, which is a very rare genetic disorder.

As a child, Amy had a low immune system, and picked up every cough and cold going. But one day at school, when she was eight years old, her teacher noticed that her eyes weren’t quite moving together correctly and she was struggling to see the board. What began as a routine eye test ended up with five opticians peering down at a frightened Amy and commenting on the weirdness of her eye movement.

Around the same time, she started to experience bad headaches and stomach aches, trouble walking, and a general decline in her health. The biggest change, though, was in her behaviour. In her own words, overnight she turned “from an angelic child into the devil.”

The challenge of diagnosing a rare disease

Over the next two years Amy endured various tests, all of which came back inconclusive. Her doctors insisted there was nothing wrong with her and put it down to something behavioural. During that time, Amy was in and out of school a lot; consequently her education got disrupted and her friendship groups dwindled. Eventually, after a skin and muscle biopsy, Amy finally got the conclusive news. She was given a diagnosis of mitochondrial disease, something neither her nor her family had ever heard of.

Amy’s doctors told her that there was nothing more they could do for her, and she should just go home and carry on with her life. But Amy’s entire world had been pulled out from under her. She was terrified. She remembers going for weeks without sleep, because she was so afraid that she was going to die while she slept. With this frightening prognosis hanging over her, and nowhere to turn for help, how could she simply get back to normal?

For Amy, one of the worst things about being rare was the isolation. The lack of a support network, the absence of anywhere to turn for advice, and the feeling that she and her family were completely alone. Even googling ‘mitochondrial disease’ brought up only worst-case scenarios and negative stories. No-one knew what the future might hold, and that frightened the whole family.

A way to ease the loneliness

And then in 2019 she went to a Patient Information Day co-hosted by UCL Mito Centre and The Lily Foundation, and her experience of mitochondrial disease changed forever. Up until this point, she’d never met anyone else with the disease, yet here was a room full of people who were living through the same experience, here was someone who was talking positively about it. For the first time since her diagnosis, Amy felt some hope.

She recalls coming away from that day smiling. “They were just like me,” she observed of the other people in the room. “It felt really positive and upbeat, and I remember getting a good feeling about it – and that doesn’t happen often! Liz was telling us about future projects. When you’re diagnosed with mitochondrial disease, there isn’t much talk of the future. And the fact that the logo colours were pink and purple swayed me!”

Being rare became about being included, about being understood and feeling reassured. Suddenly Amy had the opportunity to meet fellow mitochondrial disease patients of all ages with their own unique stories, many even positive, and she began to think, “There is a light out there.” Since that first Patient Information Day, the Lily family has become a huge part of Amy’s life. She loves the virtual coffee mornings, where she can meet other people who all have mitochondrial disease in common.

The foundation also helped point her in the right direction for support with her mental health, following the medical issues and traumas she suffered. And she’s even been to the Lily Young Adult Weekend. Despite being a self-confessed homebody who would rather be doing her hair and make-up or watching TV on the sofa, she found herself zip-wiring through trees in the Lake District, and admits she might even do it again one day!

Taking it one day at a time

What’s the worst thing about being rare? Amy doesn’t need time to think. “The pity looks. Don’t look at me like you feel sorry for me – I’m dealing with this.” She has a very philosophical head on those young shoulders, reflecting that these are simply the cards she’s been dealt, and it’s up to her to play them the best she can. “With mitochondrial disease” she continues, “you just have to take each day as it comes. And know that there’s going to be some tough times, but there’ll also be some happy times.”

And the best thing? Her experience of mitochondrial disease has taught her not to be judgmental towards others; it’s taught her empathy and understanding, and how, through her own struggles, she can help others to feel less alone and come to terms with their own diagnosis.

So, coming back to our original question – what’s it like to be rare? “Ooh I don’t know, I think I’m a bit basic!” she laughs. “I don’t really see myself as rare, I just see myself as Amy. I’m one of those people that doesn’t give up, no matter what hurdles are put in my way. The mitochondrial disease is just something that happened to me along the way, it doesn’t define who I am.” Hats off to this brave young lady – we think she’s pretty unique.

There are about 300 million people around the globe affected by over 6000 rare diseases today. Find out more about Rare Disease Day, and why not head over to our social channels to share if you’re rare.

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