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.