17 Things You'll Only Understand If You Have A Rare Disease

Sometimes it isn't so great being one in a million.

1. You have weird symptoms that no one can explain

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Yes, it seems completely obvious that black urine and crippling arthritis are caused by the same thing.

2. You’ve lost count of how many times you’ve been told you’re a hypochondriac

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You start to doubt your own sanity.

3. When you finally get a diagnosis, you feel like this…

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10% of people with a rare disease have to wait more than 10 years to find out what’s wrong with them.

4. Then you find out that there is no treatment

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Of 7000 rare diseases, only 200 have cures.

5. Or there is a treatment but it's crazily expensive

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Rare disease treatments can cost more than £100,000 per year.

6. You can’t find any information anywhere

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I didn’t know it was even possible to get zero results in Google.

7. Or there is information but it all contradicts itself

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So I should drink less water AND avoid dehydration...?

8. Or it’s written in scientific gobbledegook

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Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans.

Obviously.

9. You become a PhD in your condition

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No one else seems to know anything, so you end up doing the research yourself.

10. No one can say the name of your condition

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Saying “lymphangioleiomyomatosis” has become your party trick.

11. You have to explain your condition to every doctor you see

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In fairness, with 7000 rare diseases, it’s not surprising they haven’t heard of most of them.

12. Then you become their prize patient

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Doctors see the same types of illnesses day in and day out, so when they see a patient with an unusual condition many take a special interest.

13. You have at least three different doctors...

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You have a cardiologist, dermatologist, pulmonologist, oncologist, physiotherapist and geneticist on speed dial.

14. … which means at least three different appointments

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At different times on different days, at different hospitals. Some patients have to travel hundreds of miles to see a doctor who knows anything about their disease.

15. When you meet someone else with the same condition it's like...

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I never thought I'd find you!

16. You wonder how to make your disease go viral

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Only people living under a rock didn't hear about the ALS ice bucket challenge.

17. Remember though, you are not alone

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Most rare diseases are chronic and debilitating. 80% are genetic and around half affect children. A third of children who have a rare disease will not live to celebrate their 5th birthday.

In Europe, a disease is considered rare if it affects fewer than 1 in 2000 people. However, there are so many rare diseases that there are an estimated 350 million people worldwide living with a rare disease. It’s thought that 1 in 17 people in the UK and 1 in 10 people in the US has a rare disease. So even if you don’t have a rare disease, you probably know someone who does.

If you would like to learn more about rare diseases, or want to know what events are going on near you, please visit the Rare Disease Day 2015 website.

H/T to Global Genes, Rare Disease UK and Findacure for the stats.

H/T to @HypoparaUK and @alanROYGBIV for their suggestions.

The author of this post, Lizzie Perdeaux, is a medical writer at Oxford PharmaGenesis™ and prepared this post for Findacure pro bono.