Discover and read the best of Twitter Threads about #rarediseases

Most recents (3)

I'm pleased that today is #RareDiseaseDay as I'd like to raise awareness of something close to my ❤️ - a condition called "Genitopatellar Syndrome".

Chances are you haven't heard of it as only a handful of people in the world have been officially diagnosed with it. /1
Sadly, one of them is my three-year-old niece. She's a sweet, smiley little girl who brings joy to all who know her. But she has also suffered multiple health problems since birth. These include blindness, club feet, hole in the ❤️, a missing corpus callosum, & kidney issues. /2
This #RareDisease is caused by a mutation of the KAT6B gene. Not much is known about it as it was only identified as the cause a few years ago. This link provides a good overall summary, though I believe the gene can mutate in different ways… /3
Read 9 tweets
About 6 years ago I was diagosed with rare genetic blood #cancer called polycythemia. Since then it’s progressed & become post-polycythemia vera myelofibrosis. 36 months ago I was also diagnosed with multiple myeloma.

I have fought every single day to stay alive. I’m alive bcos we belong to #Euratom European atomic energy community - it also deals with medical radiation treatments.

For more on Euratom see here:…

I also rely on the British participation in the ERN’s. These are European Reference Networks which allow collaboration across EU member states and they do essential work on #rarediseases making my, & many other ppl’s, treatment possible.

Read 13 tweets
How to stand out?

Have you ever shared a pink, red, or blue ribbon or donated during an awareness campaign? Did most of your friends already know about that disease? /1
For #rarediseases, awareness days are TRULY vital to educate people about diseases most of the general public have never heard of.

And if they’ve never heard of it, it’s hard to have sympathy/empathy, and this hard for groups to generate funding for research.
And when a disease is rare, by its nature, few are affected, so that equals:
- fewer people to start and run organizations,
- fewer friends, families, and companies to donate,
- fewer dollars to fund treatments and cures.
Read 6 tweets

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