World Rare Disease Day 2018

A rare disease/condition is defined as a condition that effects less than 200,000 people (in the USA). There are more than 7000 rare diseases and conditions currently identified, with more being discovered daily. There are more than 350 million people in the world living with a rare disease or condition, with about 30 million of them living in the United States (which is about 10% of the population). Sadly, since so few people are impacted by each individual condition, most rare diseases do not have a single FDA approved treatment and patients (and doctors) are left grasping at straws to find ways of managing the condition. Because there are no treatments, many patients are literally left to die. (Information from Global Genes RARE Disease Facts page)

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These are some of the reasons we have World Rare Disease Day.

There are 350 million reasons in this world to care about rare diseases. 350 million reasons to spread the word. 350 million reasons to support organizations for rare diseases. 350 million reasons to start a conversation about rare diseases and conditions.

I went to a public high school in Southern California. At the time I attended, there were 4000 students there (and I’m sure it’s only increased since then). That means, with a rate of one in ten or 10%, I attended school with 400 students that had a rare disease/condition. 400 at one public high school.

Thank about your place of work. Does the floor you work on hold 100 people? Odds are, if they didn’t die in childhood, you share your floor with 10 people that have a rare disease/condition.

Notice how I said “didn’t die in childhood?” Sadly, a disproportionate amount of the people with rare diseases are young children – about 50% are children. And about 30% of the children with rare diseases will not live to see their fifth birthday. Rare diseases are also responsible for about 35% of deaths in the first year of life. (Information from Global Genes RARE Disease Facts page)

Since so many children die in very early childhood due to rare diseases, the amount of adults with rare diseases and conditions is a lot smaller. However, we still exist. And we still exist in larger numbers than you may think.

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Personally, I have two rare diseases: eosinophilic esophagitis and generalized hypermobility spectrum disorder. Technically, G-HSD is not a rare disease/condition in itself, but Ehler’s Danlos Syndrome hypermobility type is. My physical therapist is almost positive that if I had access to the geneticist even 5 years earlier than I did, I would have been diagnosed with hEDS instead of G-HSD.

Last year, I wrote more about my rare conditions: here. I included dysautonomia. Technically, dysautonomia is not a rare disease or condition. However, it is often included in WRDD because it is rarely known about. With doctors not knowing much (if anything) about it, there is significant delay in diagnosis and treatment of individuals that have it. Dysautonomia also has a lack of research, due to a lack of funding, due to a lack of awareness. All of those reasons are why it is often included in WRDD despite it being a relatively common condition.

You can look at the huge list of rare diseases (remember, I said over 7000) on Global Genes website: Global Genes Rare List.

Please check out my posts from last year:

Also, please check out my friend Sarah on Instagram: @strongerthanpots. She has been posting absolutely amazing information for World Rare Disease Day, and has amazing awareness posts in general! (She didn’t ask me to shout her out, I’m just really happy with everything she has been posting.)

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