February is Rare Disease Month!
Okay, what does that have to do with you if you don’t have a rare disease? You’d be surprised! Most likely, you already met or are related to someone with a rare disease.
In the world, 300 million people have a rare disease — that’s 5% of the world population!
72% of rare diseases are genetic — i.e., they result from a mutation in the gene, not necessarily passed from parent to child.
And that’s exactly where I and many others who have FD/MAS fit in! These are two very rare, chronic, and incurable conditions (Fibrous Dysplasia and McCune-Albright Syndrome).
The FD/MAS Alliance kindly let me and fellow patients share our stories with these conditions:
And it’s not just the month! Today (February 28th) is also a big day! Not only is it Rare Disease Day, but it’s also right in the middle of FD/MAS week!
Did you know that the diagnosis for rare diseases takes, on average, four to seven years? That’s a very long time to live in fear, anxiety, and without any answers.
So far, 6000+ rare diseases have been identified — while that looks like a big number, there are still many people who live without a diagnosis throughout their whole lives.
In my case, it took us four years to reach a diagnosis — that was lucky compared to the average. I was still a toddler and don’t remember a thing, but it was a very difficult time for my parents, who went on for years without an answer.
Estou muito feliz por vivermos agora na era da Internet. Temos acesso a TANTAS informações instantaneamente e isso ajudou muito muitas pessoas a descobrirem seus problemas de saúde – raros ou não.
In this video, I talk all about that (and much more):
In fact, it was only thanks to the internet that I finally met fellow patients — and I was 30 years old when it happened!
In these posts (with the collaboration of the FDMAS Alliance) I go over all these wild happenings:
My story with FD/MAS | Biakaorimi
And these posts on the FD/MAS Alliance site:
- Beatriz: A patient perspective from Brazil – FD/MAS Alliance
- When Beatriz met the Alliance – FD/MAS Alliance
- Beatriz becomes an Advocate – FD/MAS Alliance
How about you? Do you have experience with rare diseases? Or possibly know someone who has one?
Tell me all about it in the comments!