Gabrielle Wales is tall for 12, taller than her mother Kathy, with long, lanky arms and legs. These are features of Marfan Syndrome, where the arms and legs grow faster than normal and where joints are too stretchable/.
"I can't play contact sports, but I can play the cello and I do ballet and I swim and ride my bike," she said.
The long fingers make it easier to reach notes on a cello. But contact sports could kill Gabrielle.
Her aorta, the big artery from the heart, is stretching just as her joints do. At worst, it could burst and kill her. She could also need surgery to replace it. Now, a drug called cozaar, or losartan, could prevent either outcome.
"The knock-it-out-of-the-park home run would be if, essentially, all patients with Marfans, the aorta stabilizes, and their whole lifespan remains normal," said Dr. Bruce Gelb, of Mount Sinai Medical Center
The new study compares losartan to the standard drug atenolol, which doesn't prevent aorta ballooning in all patients. Researchers hope losartan will work better to block chemicals in the blood that damage the aorta.
There was a study out recently that looked at patients in whom the standard drugs had failed to stop the aorta from stretching. Losartan worked in those cases.
For the Wales family, the losartan study may signal the beginning of a more normal life for Marfan patients.
"For Gabrielle and everyone else involved, especially the children, it gives us great hope," mom Kathy Wales said. "And that's what we have to look forward to."
The study will watch just more than 600 patients with Marfan, ages 6 month to 25 years. Half will get the standard drug atenolol and the other half will get losartan. Participants won't know which they are on. For more details on the study and whether you can enroll, visit Marfan.org or call 212-241-6012.
From the National Institute of Health:
What is Marfan Syndrome?
Marfan Syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In patient's with Marfan Syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan Syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.
Marfan Syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least one in 5,000 people in the United States have the disorder.
The best hope for living into one's 70s or even 80s lies with attention to recommended medical care and changes to lifestyle. Lifestyle changes are mostly related to limitations in physical activity, both at work and during recreation.
Marfan Syndrome has "variable expression," which means symptoms in affected people can range from very mild to quite severe. The reasons for the differences in severity, even among members of the same family, are not well understood.
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STORY BY: Dr. Jay Adlersberg
WEB PRODUCED BY: Bill King
