Blog Hop for World Rare Disease Day

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

Marfan Syndrome Awareness Week

This week, November 13-19, is Marfan Syndrome Awareness Week.

Marfan Syndrome is a genetic condition that results in weakness in the body's connective tissues. Connective tissue is the "glue" that holds many of the body's organs and systems together. People with Marfan Syndrome can experience problems with the lenses of their eyes, their joints and skeletal system, and most significantly, their aorta, the large blood vessel that leads out of the heart. Over time the aorta can stretch and tear, and this can be fatal if not diagnosed and repaired.

The majority of people with Marfan Syndrome inherited it. It's caused by a dominant gene, meaning if you have it, you have a 50-50 chance of passing it on to your children. It doesn't "skip" generations, though: if a child didn't inherit it from his or her parent, he or she can't pass it on to his or her children. But as many as 30% of people with Marfan didn't inherit it; they have it because of a new mutation in the gene that controls the connective tissue fibrillin.

Many people with Marfan are tall, but not all; they are merely taller than they would be without it. Most have poor eyesight because their lenses are dislocated. Some have loose joints. Every person with Marfan is at risk of aortic aneurysm.

The "classic" Marfan physique may be easier to diagnose, but Marfan people come in all shapes and sizes and races, and that's why it's important that there be greater awareness of this condition. Because a lot of people have Marfan and don't know it. It's estimated that 1 in 5,000 Canadians have Marfan, but the number could be double that.

A generation ago, the outlook for people with Marfan was not very bright. There was little knowledge in the medical community, spotty diagnosis, and few effective treatments. The average lifespan of a person with Marfan was less than forty years.

All that has changed in the last twenty-five years. Today there are good diagnostic tools like echocardiography and effective drug and surgical treatments. Research has discovered the cause and mechanism of Marfan, and a global study is underway to investigate a promising drug therapy that could prevent aortic aneurysms.

Organizations like the Canadian Marfan Association exist in most major countries to spread awareness, support Marfan patients and their families, and foster research. This year marks the twenty-fifth anniversary of the Association's founding by a remarkable woman, Elizabeth McHenry. Over the past quarter century many hard-working people have given of their time, energy, and money to support and build the Association, and their efforts have saved and prolonged countless lives.

If you would like more information about Marfan Syndrome, or wish to support the Canadian Marfan Association, click on this link.

I have Marfan Syndrome.