Shining A Light On Rare Diseases: How You Can Help

This year for Rare Disease Day we are shining a light on rare diseases.

Why is this conversation so important?

I was 17 years old when I was diagnosed with a rare disease, one that my life had been deeply impacted by from 8 years old, an illness that till then I’d been living with unknowingly since I was born.

I knew something wasn’t right, it just took me a long time to find out exactly what.

My diagnosis didn’t come from the prompt of any of the multitude of doctors and specialists I’d seen from a child. 

My diagnosis came from a girl on YouTube, her name was Amy. I didn’t understand why I could relate to her at the time, but I could. She had Ehlers Danlos Syndrome, I’d never heard of it before then. 

My doctors told me it was anxiety, that I’d grow out of it. 

This was 4 years before I was diagnosed. 

My diagnosis came from my physiotherapist who picked it up within minutes of seeing me. 

My doctor at the time dismissed the suggestion in seconds, refusing to even entertain the idea.

This was 2 years before I was diagnosed. 

My diagnosis came from a stranger at the local dog park, who took one look at me and simply stated, “You don’t have to tell me, you have EDS right?” I thought she had it wrong, after all my doctor brushed off the idea instantaneously so that couldn’t be it. But I brought it up anyway, just in case.

My doctor asked if I could touch my toes, my answer was no, therefore I couldn’t possibly have EDS…

This was a year before I was diagnosed.

My diagnosis came from the local EDS support group, who went through the diagnostic criteria with me. I ticked every box… 

My doctor begrudgingly filled out the referrals I had begged for, for months. Many came back denied. They refused to see patients with the condition as they say they “Can’t do anything to help”. I apparently showed too many signs of having it…

This was 6 months before I was diagnosed. 

My official diagnosis came from a rheumatologist, the only one in the state that would willingly see me. I found him through my friend, the one from the dog park one year earlier. 

This was 9 years from when I first started looking for answers. 9 years of hospital trips, doctors appointments and tests upon tests all inconclusive. 9 years of speculation, of dismissal both in and outside of the medical system, of feeling like it was my fault, that somehow I was doing it to myself.

So again why am I telling you this? Without realising it we all leave a small piece of ourselves with everyone we meet, I’m hoping this will be the piece you remember. Not for me, I’d rather not be remembered as that sick girl you read about on the internet. But for your friend, family member, co worker, friend of a friend, neighbour, client, patient. You may know someone that’s affected or you may not, but someone you know might. Bringing awareness is kind of like a giant game of Chinese whispers, you hope people remember enough to get the information to where it’s needed.

Rare disease day is everyday for some people. Every minute, of every hour, of everyday. When you have a rare disease you have two battles. One is the illness itself and the other is living in a world where no one understands what you’re going through. 

People always say, “I hope you feel better soon.” You won’t. People question you your whole life, with or without a diagnosis. Just because you have not heard of it before doesn’t mean it’s not real. 

Most tests will come up inconclusive and because of that many never get a proper diagnosis or prognosis. Instead you’re made to feel like it’s all in your head.

 If you have a diagnosis, you likely know more about your illness than your doctor. This is scary given the fact that they are making crucial decisions revolving around something they don’t understand. 

For most rare diseases there is no cure and very little treatments available. Health and support systems are designed with common illnesses in mind.

 Because of that, people with rare diseases face constant barriers accessing and participating in the world, facing discrimination with accessing school, work, medical care and social scenes.

 Having a rare disease is isolating. People don’t know about it unless they know of someone living with one. Though I bet without realising it, most people know at least one person with a rare disease, they just aren’t aware of it. 

300 million people living with a rare disease worldwide

Over 6000 different rare diseases

72% of rare diseases are genetic

70% of those genetic rare diseases start in childhood.

When tomorrow comes and the spotlight dies, nothing will change. Our fight will continue just the same.

But there are ways you can help long past rare disease day.

  1. Show empathy and flexibility, no one hates the implications of the illness as much as the person living with it. You getting frustrated or judging them will only lead them to further disengage with the world.
  2. Listen with your ears, eyes, hands whatever way they communicate. We don’t need people to try to relate to us or fix our problems. Just listen, that’s all we ask.
  3. Help bring attention to the voices of those living with rare diseases, both online and in person.
  4. Write a letter to the key policy maker in your community. Highlighting the importance of addressing the needs of rare diseases. Including equity toolkit.

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