Downstate student lives with tissue disorder

CHAMPAIGN - In Kat Williams' ideal world, she'd be able to do more things teens her age do, like playing sports. And she'd stop herself from growing any taller.

"I will put a brick on my head to make myself stop growing," she jokes with her mom.

At just a bit over 5 feet, 10 inches tall, Kat, 13, of Champaign, was born with Marfan syndrome, a connective tissue disorder characterized by a tall, thin build - and sometimes serious heart complications.

An eighth-grader at University Laboratory High School, Urbana, Kat was diagnosed with this genetic disorder when she was six years old, she and her mother, Ramona Sullivan, said.

Marfan syndrome also claimed the life of Kat's father three weeks before she was born.

Kat's early diagnosis means she's gotten the care she's needed to avoid life-threatening damage to her aorta, the main vessel that brings blood from the heart to the rest of the body.

But by the time her father, Lionel Williams, learned in his late 20s that he had Marfan, there had been too much heart damage already done by strenuous activities, among them playing football and basketball, and he died at age 31, Sullivan said.

Before her late husband was diagnosed with Marfan, Sullivan said, "we'd never heard of this."

February is the national awareness month for Marfan syndrome, a condition that affects one in 5,000 people in the U.S. - though half of the people who have it haven't been diagnosed, according to the National Marfan Foundation.

Recognizing Marfan early is important. When it goes undiagnosed and untreated, there's up to 250 times the risk of a tear or rupture to the aorta, the foundation said.

After what happened to Kat's father, Sullivan said she's apt to walk right up to people she sees who look like they might have Marfan characteristics and ask them if they have heard of Marfan syndrome.

"I don't want this to happen to anyone else," she added.

Marfan affects the long bones of the body, which can lead to the tall, thin build, long arms, legs, fingers and toes and flexible joints. Other traits can include a spine that curves to one side (scoliosis) along with flat feet, teeth that are too crowded and a chest that sinks in or sticks out, according to the National Heart, Lung and Blood Institute.

Three-quarters of people who have Marfan syndrome inherit it from a parent, and those who have it stand a 50 percent chance of passing the altered gene along to each of their children.

Sullivan said her 18-year-old son, Matthew, didn't inherit the condition.

In addition to heart complications, Marfan syndrome can also cause eye, nervous system and lung complications, but since Kat was diagnosed as a young child and has gotten the proper treatment, she's escaped serious complications.

In addition to limiting some activities, Kat takes daily beta blocker medication and gets an echocardiogram (an ultrasound test of the heart) once a year, she said.

Ask Kat how Marfan syndrome has most affected her, and she said first she's had to grow up without her dad.

She also has had to settle for being a fan instead of a player when it comes to sports. She developed a love for volleyball around sixth grade, and even went to volleyball training camp, she said.

"I was all set to play, and my doctor said I couldn't, if I wanted to have a long and happy life," she recalls.

With her long, thin fingers, Kat said she tried playing piano, which turned out to be not for her, though she has taken to playing the guitar. Reading, movies and doing things with her friends are also high on her list.

"My friends are really incredible," she said. "They act like there is no difference between me and them."

She's also about to become a big sister, and is looking forward to that, she said. Sullivan remarried in 2010, and she and her husband, Anthony Ortega, are expecting a baby due to arrive in July.

Kat and her mom said they've gotten a chance to meet others living with Marfan syndrome by traveling to National Marfan Foundation conferences. Since she's seen some kids at these conferences in wheelchairs due to the scoliosis complication, Kat said, she believes doesn't have any right to complain.

"I don't have it that bad," she said.

"It used to make me really sad," she said about having Marfan. "But I've just learned to live with it, because there is nothing I can do about it, so why be upset?"

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Source: The (Champaign) News-Gazette, http://bit.ly/1nHsffX

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Information from: The News-Gazette, http://www.news-gazette.com