Local boy being treated for little-known disease - KMOV.com

Local boy being treated for little-known disease

Abraham Lincoln likely had it.  Michael Phelps might develop it too.  It's a common, yet little known disease that can be deadly if not recognized early.

In honor of heart month, we're talking about Marfan Syndrome, and in many cases you can identify someone with Marfan Syndrome just by understanding the physical features, like long, lean arms and legs.

"His aorta is the normal size for an adult," Dr. Angela Sharkey, says.

But he's a 10-year-old boy.  Isaiah Perry has Marfan Syndrome.  It's a disorder of the connective tissues, which puts many patients in daily pain.

"My legs -- they hurt a lot every night, but usually a heating pad helps," Perry says.

He's had to give up sports but now likes to cook.

"I only have a couple of friends because it's really hard keeping friends when you can't do things most other people can," Perry says.

Isaiah sees Dr. Sharkey at Children's Hospital every six months to check on his heart.  Sudden death is the biggest fear for patients with Marfan Syndrome because their aortas that never stop growing.

"It's very likely that patients with Marfan Syndrome will have to have aorotic surgery in their lifetime," Dr. Sharkey says.  "But the risk of sudden death from a tear in the aorta decreases when patients are on these medications."

Everyday Isaiah takes blood pressure medicine.  He's part of a clinical trial at Children's Hospital to find the best blood pressure medicine to slow or even stop the growth of his aorta.  Treated this early could increase his life by 28 years, but identifying the disease can be the hard part, because there are no internal symptoms.

So look on the outside for traits like flexible joints, long, thin arms and legs, flat feet, crowded teeth and scoleosis.  Marfan Syndrom pateints also often have a chest that sticks out and disconnected eye lenses.

"We want people aware, and we want people educated because this is something that with medical care can be treated," Melinda Perry, Isaiah's mom, says.

"It's quite scary because it affects every part of your body, and I have the thought in my mind that at any sudden moment my lungs could collapse," Isaiah Perry says.  "My aorta is extremely large, and I probably would have died by now if we didn't figure it out, and I don't want anyone else's children to die."

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