Health Check: Marfan syndrome awareness

Keller Family

Melissa Keller is a very outgoing 7-year-old. She likes to perform, singing a song about her curvy spine disease -- scoliosis -- that she and her dad recently made up.

That diagnosis was made last year.

"That's when the doctor asked the child to bend over and he asked me, 'Have we talked about this?' It's very visible that her spine is an S," said Vera Keller, Melissa's mother.

Melissa was told she'd have to wear braces.

"Yeah, I was like, braces on my teeth? I didn't really get it very much," Melissa said.

She does now. That's because she wears two braces: one at night and another one during the day to help keep her spine from getting worse.

A few months after the diagnosis of scoliosis, Melissa's doctors suggested something else.

"He suggested, he said, 'I'm just looking at her hands and her long fingers. Why don't you, what do you think about testing her for Marfan?' I had never even heard of Marfan," Vera Keller said.

But these parents were soon to learn their daughter had all the characteristics of Marfan syndrome: a tall, thin build; flat feet; long arms, legs and fingers; and very flexible joints.

"One of the reasons we want to raise awareness about Marfan syndrome is that this is something people can have, especially people who have scoliosis," said Jonathan Keller, Melissa's father.

Most people with Marfan have scoliosis, and there are complications.

"If you know that you have it you can manage it. There's medication. Because one of the main problems is sensitivity in the aorta, so it's life-threatening if you don't know about it," Jonathan Keller said.

"Now that we know, we know enough for her to see a cardiologist every year. We know enough to know that she cannot play soccer, that she's not allowed to play any contact sports," Vera Keller said.

No problem for Melissa. She swims and takes dance, and she has favorites.

"I think I like ballet and tap and jazz because I like performing on stage," Melissa said.

Melissa and her parents wanted to do this story to raise awareness about Marfan syndrome and scoliosis, which is often a trait of Marfan.

They've set up a Facebook page in search of others in Southern New England who have Marfan syndrome.