The Variability of Marfan Syndrome: Spreading Awareness and Connecting the Patient Community

January 31, 2017

Siblings will always argue over who is taller. But what happens when your height is one of the symptoms of a life-threatening rare disease? Especially if you are significantly taller than everyone else in your family?
This is just one of the few key signs of a curious and often undiagnosed disease, Marfan syndrome. February is Marfan Syndrome Awareness month. 
Marfan syndrome is a potentially life-threatening genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes.
Some Marfan features – for example, aortic enlargement or expansion of the main blood vessel that carries blood away from the heart to the rest of the body – can be life-threatening. With Marfan syndrome the lungs, skin and nervous system may also be affected although it does not affect intelligence.
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who is a carrier of the gene. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child. Some people with Marfan syndrome are the first in their family to have it which is referred to as a spontaneous mutation, this is the most dangerous scenario as a Marfan syndrome diagnosis typically does not happen until it is too late. 
Chief Communications Officer Eileen Masciale has been working with The Marfan Foundation for over twenty years.
“If one parent has Marfan [syndrome], there is a 50% chance that their child will. And it’s a 50% chance for each pregnancy. But in about one-quarter of cases, the child is the first in the family to have the condition; this is called a spontaneous mutation—which happens to about 25% of reported cases.”
The goal of The Marfan Foundation is simple; to save lives before they’re in jeopardy. 
While many patients show symptoms directly at birth, others may find they have a hard time confirming the diagnosis or ever even learning about it at all.
“Many cases are first recognized by the eye doctors, that’s where we see a lot of the missed earlier signals,” says Masciale. And while some patients get an early diagnosis—others may not know about their diagnosis until they have a tear in their aorta, the large blood vessel near the heart. If the aorta ruptures, that can cause sudden death.
“Many people with Marfan are pushed into athletics because they are tall and hyper-mobile, but this is actually dangerous for them because of the stress that competitive and contact sports put on the aorta and the danger to other body systems,,” says Masciale, who recalls several, including Flo Hyman, captain of the 1984 U.S. Olympic volleyball team who died of sudden aortic dissection without ever knowing she had Marfan syndrome. Knowing the symptoms can save lives. The Marfan Foundation has developed tools and resources on exactly how first responders, doctors and medical students can obtain that crucial information to act quickly, correctly, and with an eye towards preventative care. 
Some of The Marfan Foundation’s resources include:

  • Assisting in finding a doctor
  • Q&A video series
  • Patient tools including a medical alert card, emergency preparedness kit, and physical activities guidelines.

While it’s great for patients to be educated—are doctors out there really able to recognize this disease that has such a wide range of symptoms?
“They have a day in medical school where they learn about this,” says Masciale, “but until they see these patients they can’t imagine the variability of it. But I’ve been to many conferences and these doctors are interested. They’re really willing to learn.”
Want a great way to spread awareness? Start by connecting with the Marfan community. The Marfan Foundation has plenty of ways to get involved including their Walks for Victory program , volunteer opportunities, as well as local and online support groups.

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