Dealing with Marfan syndrome

ST. LOUIS (Ivanhoe Newswire/WTVM) - Marfan syndrome is a genetic disorder that affects the body's connective tissue; these tissues hold all the body's cells and organs together.

One in 5,000 people have it, but some may not even know it until there's a tear in their aorta or their valves pull apart. Until recently, a Marfan patient wasn't expected to live to be 50, but new drugs are helping people suffering with Marfan live longer lives.

Brooke Pulliam isn't like other 15-year-old teens. She was born with Marfan syndrome.

"People usually comment about how I'm tall so I usually just explain what Marfan is," Brooke says.

Brooke is 6'1" to be exact. Her legs, arms and toes are long too. Her spine is fused. Her mom knew Brooke had Marfan's even before she was born.

"The thing with Brooke is that we could probably tell from ultrasound pictures that she had it," said Dawn Pulliam, Brooke's mom.

Alan Braverman, MD, Cardiologist at Washington University in St. Louis School of Medicine says, "Cardiovascular features are the life-threatening ones."

Aneurysms can form in the patient's aorta and burst.  A beta blocker blocks adrenaline, and takes stress off the heart.  For years, this was the only medicine available, but it can cause fatigue and nausea. Now, Dr. Braverman is testing another class of drugs — called angiotensin receptor blockers or ARB's.

"Either drug seems to slow the rate of growth of the aorta over time," says Dr. Braverman.

ARBs work differently than beta blockers by relaxing blood vessels, making it easier for the heart to pump; they have little to no side effects.  This was an important discovery for Dr. Braverman.  His father died from Marfan's and his brother is living with it. His goal is to help everyone with it live longer.

Dr. Braverman says, "I think what's the most exciting thing about caring for people with Marfan syndrome is watching them grow old."

Though there is no cure for Marfan syndrome, treatment with beta blockers and ARBs, along with surgery has increased life expectancy into the seventies. Dr. Braverman believes finding new drugs will help researchers learn more about the cause, which in turn will lead to a breakthrough to stop its progression.

Copyright 2015 WTVM. All rights reserved.