By Courtney M. Holbrook
On the 30th Anniversary of the National Marfan Foundation, the Sag Harbor resident, original co-founder and current Chair Emeritus of the Foundation reflects on her family, the Foundation’s development and new treatment options for Marfan Syndrome.
How has the treatment of Marfan Syndrome progressed since the death of your son in 1969?
My husband had his first abdominal surgery in 1960, which was two years after the development of open-heart surgery. This changed the entire picture for people with Marfan Syndrome. It has made it possible for people with Marfan Syndrome, who have the cardiovascular problems, to see a life with a future. My husband lived for another 10 years with open-heart surgery. My two other sons, who have Marfan Syndrome, have had their lives extended and we hope for a normal life span. The surgery itself has improved; they replace the weak tissue in the valve that was in the heart and damaged due to the mutation. They started putting in a prosthetic valve and tissue, which would cover the disintegrating tissue of the descending aorta. That was a very secure repair of the valve. But that required having Coumadin, a blood thinner. Now, they can have valve-sparing, where they can just repair the connection to the valve on the aorta, and they don’t have to have the blood thinner. Now, my granddaughter is in the clinical trial of the Losartan, which we believe will cause great improvements.
Are mutations of the Marfan gene different?
Marfan Syndrome is a family-specific mutation; that mutation in that family will be inherited by those who inherit it. But it’s different than all the hundreds of others. My husband had what they call a spontaneous mutation; he was the first one in his family to have that mutation. He had a 50-50 chance at each conception of transmitting that mutation to a child. If it’s not transmitted, that mutation will die out. We had seven children. Three had the mutation and they inherited it. Four do not have it and they won’t carry it.
What are the characteristics of those diagnosed with Marfan Syndrome?
A syndrome is like a group of characteristics that appear in a specific disorder reliably; in this case it would be very long bone growth — long arms, long fingers. Wherever the long bones are in the body, they grow longer than they’re naturally programmed by the genetic nature of the family. Because the mutation is different in everyone, it affects people differently. It could affect the eyes more than the bones; the bones more than the heart; or the heart more than the eyes.
How do you diagnose Marfan Syndrome?
First, diagnosis is made by observing the physical characteristics of the individual. Second, you need to get an echocardiogram, which measures the aortic root in the heart. Third, a slit lamp examination of the eye observes the connective tissues that hold the lens in place.
What advice do you have for parents who may be concerned their children have Marfan Syndrome?
You don’t want to be afraid of having a diagnosis, because there are many connective tissue disorders that are not life threatening, but still have some of these same characteristics. For instance, a lot of women have mitral valve prolapse. They’re very tall. They can be thin. So you do have to have an expert who is familiar with Marfan Syndrome and the other connective tissue disorders and can distinguish between them. I would suggest that they go to the website of the National Marfan Foundation (www.marfan.com), which has medical information and diagnostic evaluations. It gives certain visual evidence and areas where you can find expert researchers, doctors and surgeons. Diagnosis is important because you can adjust their lifestyle, an expert physician can follow them, you can know if they have it or not. If they have it, you don’t want your children to do contact sports. You want to get an echocardiogram or an MRI and have regular evaluations.
Is Marfan Syndrome predominantly found in a certain race or gender? Does it affect a certain race or gender differently?
No. It’s very democratic. The gender, the race — it doesn’t matter. Marfan Syndrome exists all over the world. But for women there’s an added problem. Having children can cause stress on the heart, so not only are you worried that you might have a child with Marfan Syndrome, which you don’t want to not have — because you have it and you’re doing just fine thank you — but there may be situations that you have to prepare for.
How has the National Marfan Foundation increased public awareness of Marfan Syndrome?
There’s no question that the formation of the National Marfan Foundation in 1981 drastically increased awareness. They’ve done so much: the mutual testimonies before Congress, the writing of materials for the layperson, the gathering of people together, helping with disability claims for those who have severe orthopedic problems or severe heart problems, supporting and bringing together the medical and research community in work and effort. They established the professional advisory board and a scientific advisory board. They hold conferences for the patients and their families every year, bringing together 400 people who share their experiences together. Sometimes, there are physical disabilities related to the rapid growth, and children look different because they are so tall and thin and may need glasses. At these conferences, they can share their experiences and develop responses to those people who may make fun of them. It brings everyone together.