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

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

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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.

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.

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.