There isn’t a parent I met that said: I want a child with a rare disease.
And yet the reality is that people are born and/or develop a rare disease. I have given birth to three children incredibly healthy and it never dawned on me that my youngest would be born with a rare genetic disorder.
And as we traveled the world of rare diseases I came across Rare Disease Day. This started in 2008, and every year a specific topic is high-lighted – check them out here.
The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. (https://www.rarediseaseday.org)
Rare diseases are just that, they are rare and little information is known about them, if anything at all. In my son’s case, who was born with urea cycle disorder – CPS1. The estimated incidence of urea cycle disorders is 1 in 8500 births. Here’s the link to the National Urea Cycle Foundation.
But back to rare disease day and it’s mission because “1 in 20 people live with a rare disease and a lot of them don’t have a cure and a lot more go undiagnosed” (www.rarediseaseday.org).
Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases (www.rarediseaseday.org).
The organization encourages people to get involved and have 8 ways of how you and I can make that happen. For me it’s writing this blog post, to bring that awareness to this platform and to share our story.
You can also go shopping here and purchase the official products to create awareness. To check out their store, click here.
And if you are interested in doing more and be part of something maybe bigger, check out the events!