Back in November, during Marfan Syndrome Awareness Week, I told you about this rare genetic condition of connective tissue that affects me and many members of my extended family.
Now, today, January 30, I'm joining bloggers around the world in a "blog hop" to mark 30 days until the upcoming World Rare Disease Day on February 29.
More than 350 million people, or about 5% of the world's population, have a rare disease. Some 7000 of these diseases are so rare, they affect fewer than 100 people. Eighty percent of these disorders are genetic. These are chronic, life-threatening, and fatal conditions. Only 5% have any type of treatment. More than half of these disorders have no research, advocacy, or support groups for those affected by them.
When I was a boy and young man, there were virtually no diagnostic or treatment options for Marfan Syndrome. I watched as my mother's sister and brothers succumbed to this "silent killer" and I felt sure that, like them, I would die young.
But that began to change about twenty-five years ago. New diagnostic tools made effective surgical intervention possible. And some medications have had some benefits for some people. Groups like the Canadian Marfan Association came together to foster research and offer support and information to patients and their families. Today, a large-scale clinical trial is underway, involving researchers from around the world, that is investigating the effectiveness of the most promising medication to date.
We have been lucky: Marfan Syndrome diagnosis and treatment has come a long way. Today, my brother and three of my cousins are alive thanks to life-saving surgery that wasn't available to my aunt and uncles.
It's time millions of others with rare disorders and diseases got the same chance.
So, what's a "blog hop"? At the bottom of this post, you'll find a list of other bloggers participating in this project. By clicking on their blogs, you can "hop" from blog to blog to read their stories.
And there are other ways you can get involved. World Rare Disease Day is a campaign of R.A.R.E. – the Rare disease Advocacy Research Education Project. It is trying to unite 1 Million for RARE on the Global Genes Project Facebook page. Wear jeans (genes) on February 29, or donate a bracelet to the 7000 Bracelets for Hope campaign. You can find out more at http://www.globalgenes.org/ and http://www.rareproject.org/
Follow me on Twitter: @AeneasLane
Thank you for posting about Marfan disease. I had never really read more about it until today. I am so glad that you and your brother and cousins are doing well in spite of what sounds like a difficult disorder. I pray there is a cure, or at least super effective treatment, very soon!
ReplyDeleteIt was my pleasure to "meet" you today!
Mindy (a fellow rare disease blogger)