Why Rare Disease Day is Important

Written by Jade Evans 

Edited by Holly Barr

rare disease

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population, and currently there are between 6,000 and 8,000 known rare diseases. Due to this 1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives. Despite this, only around 300 of these diseases have a known biological cause, and on average it takes around 5 years to even get a diagnosis.

These are just some of the shocking statistics around rare diseases, and yet most people I have spoken to have no idea what a rare disease is, never mind how to react without offending or upsetting someone with a rare disease. Schools, universities and the government barely discuss rare diseases and therefore render them invisible and unimportant. With this being the case, the stories of the rare disease community are never told or given a platform, so people are usually unaware or uninterested. This makes most of the rare disease community feel isolated from society, like a burden in a lot of cases and rarely ever feel valued within society.

This is a section from a poem written by Karen about living with a rare disease, which emphasizes the ignorance and judgement that she faces everyday:

“God, why can’t they accept what they don’t see?

Why can’t they see, they’re not accepting me as me?

I’m not broken, or weak, or crippled or old.

I’m not faking or making the flu of a cold!

It’s not easy having a rare disease.

A single genetic mutation too, if you please!

I’d stop it if I could, that you must know.

It’s not fair to assume, to just assume you all know!”

To read the full article follow this link: http://www.rarediseaseday.org/stories/5271

People only become aware of rare diseases when it personally affects them or their families. Even me and my family were ignorant before my sister Zia was born 10 weeks early, spent 6 months permanently in hospital, and left with a rare diagnosis of Prader-Willi Syndrome. None of us had heard of this diagnosis before, not even most of the ‘professionals’ had a clue.

Here is a quote my dad wrote in an article about Zia’s condition:

“Whenever we speak to professionals about her condition we find ourselves telling them more about the condition and the assistance we need, rather than them offering us advice. This we do find empowering but not very reassuring” (Full article will be available on Rare Disease Community Leeds page)

How can it be that medical ‘experts’ and her dietitian don’t even know anything about her condition? My family have been playing a guessing game and it’s frustrating. I fear for her future, not just because of her diagnosis, but because of how little acceptance there is within society for disabled people. Despite this we have been lucky. We got a diagnosis within a few months of her being born, and have managed to get in contact with a few charities, which have helped us so much, but not everyone gets this support.

Below is a section from Susan’s story about her experiences with a rare Genetic Metabolic Disorder known as Fabry’s Disease:

“School was a nightmare, especially summer and PE lesson, I used to try and get out of every lesson, skiving if I had too, anything physical was torture and left me fatigued for days and in so much pain. I had no idea why. Then I would remembers, it’s all in my head!!!!  I pulled away from a lot of my school friends as they were all sporty, it was easier to do that than keep making excuses not to join them.

As I got older, people said I was lazy, I had no energy and never wanted to join in with a lot of activities, it was easier to stay at home and do what I knew I could manage. I was even told I was not a typical normal teenager.” (Full article will be available on Rare Disease Community Leeds page)

It is difficult to read that people would call someone ‘lazy’ despite not knowing anything about the person, but this is the reality for most people with rare diseases. Obviously there needs to be more education around rare diseases within Universities in order to create more acceptance, so I did a quick Google search of ‘rare diseases Leeds Beckett University’. I was actually shocked that literally nothing came up about rare diseases in my own university, it is embarrassing. How can it be that 7% of the population has a rare disease at some point in their lives and the university has no online support for these students, not even one page dedicated to them?! It is about time that universities, such as Leeds Beckett, step up and start becoming an inclusive safe space for people to be recognised, acknowledged and to thrive regardless of disability, race, gender, sexuality or class.

I wanted to end this article with a section from Rachele’s story, where she unfortunately lost her son, Zach after fighting a 12 year battle with a rare disease. I hope everyone can see how important raising awareness of rare diseases is, and how isolating it can feel for individuals and families with rare diseases. It’s time for change.

“You see my son Zach suffered from a rare Disease called Infantile Neuroaxonal Dystrophy, INAD for short. We went from seeing a very healthy baby who hit all his milestones to slowly losing his every ability. In sum, we watched as his body failed him.


Please remember that there are lots of rare diseases that are robbing people of their lives everyday. Very little research goes into these diseases because they aren’t the big named diseases. I have found that this is one of those things that I find very hard to accept. No life should be determined by how much research money they get.”

For the full story please read here: http://www.rarediseaseday.org/stories/57

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