Always looking up

oy helps others learn about Marfan's dire effects

oy helps others learn about Marfan's dire effects


KNOXVILLE, Md. -- Daniel Speck knows all too well how other people think he was made to play basketball.

Daniel stands at 5 foot, 5 inches tall, weighs about 80 pounds, wears a size 12 shoe and looks older than his 10 years.

And when he was younger, shooting hoops was his dream.

That was until he was diagnosed at age 7 with Marfan syndrome, which affects not only his height and build but his connective tissues and organs, including his heart.

His parents, Amy and Larry Speck, who will be married for 15 years this year, had no other choice but to sideline their son, especially when doctors told them he could possibly die while engaging in competitive sports.


Although Marfan has forced Daniel off the court, he has made sure the disease hasn't taken him out of the game of life. He's involved in plenty of activities that keep him busy and has also made it a personal mission to help others with the disorder.

Daniel says he's trying to help other people with Marfan through a newsletter and fundraising. In other words, Marfan syndrome is something he has, not who he is.

Marfan syndrome

According to the National Marfan Foundation, the syndrome is a disorder of the connective tissue, which helps to keep the body together and control how the body grows. The disorder, which affects 1 in 5,000 people in the United States, affects the heart, blood vessels, bones, joints and eyes. The lungs and skin can also be affected.

Marfan is a genetic disorder, but Amy and Larry say they found no evidence of Marfan in either side of the family tree.

According to the National Marfan Foundation, if there is no family history, such as in Daniel's case, it's considered a spontaneous mutation. Doctors will diagnosis Marfan if a person has three major criteria in a least two body systems and a minor criterium in a third.

From his long arms and legs, his "pigeon-breast" chest, and even stretch marks, Daniel has many of the classic signs. Amy and Larry didn't know their son wasn't just tall he had Marfan syndrome.

Reading the signs

When Amy and Larry welcomed Daniel to the world on Oct. 6, 1998, doctors told them they had a healthy, 9-pound baby boy.

"We noticed that he had really long fingers and toes, and he was really long," Amy says. Daniel was 22 1/2 inches long.

Their son had grown quickly - he was always off the doctor's charts in height - and by the time he was in public school, he was playing basketball and T-ball.

"We just thought he was naturally tall and thin," Amy says.

In early January 2007, Daniel, then 7, was taken to a visit to his pediatrician for a regular check-up. The doctor noticed a curving of the spine and suggested Daniel see an orthopedic doctor to get a scoliosis baseline.

The orthopedic doctor confirmed that he did have scoliosis. And that should have been the end of the exam. But then Amy off-handedly asked a question that got doctors thinking.

"I asked if, because he was so tall and thin, if that somehow had something to do with the scoliosis," she says.

Both Daniel's orthopedic doctor and pediatrician felt that Marfan syndrome was a possibility. The next day, the Specks had an appointment with a geneticist at Children's Hospital in Washington. Doctors confirmed what everyone had suspected: The boy had Marfan syndrome.

Unfortunately, the condition had already affected Daniel's heart. He had a mild mitral valve prolapse - his heart's valves weren't closing properly.

But the most concerning was that he had aortic root dilation - the portion of the aorta that is connected to the heart had become enlarged and could pull the valve apart and cause it to leak. If Daniel didn't heed his doctor's advice - no more playing competitive sports - Marfan could lead to sudden death.

Keeping busy

Although Daniel's diagnosis dashed any dreams of playing in the NBA, he has plenty of other activities to occupy his time.

"He likes tearing apart machines with me. It really changes his focus," Larry says.

The father and son enjoy working on Allis Chalmers B Tractors as well as building other projects.

With two golden retriever puppies, Comet and Daisy, Daniel is actively involved in Tail Waggers 4-H Club. He takes piano lessons and takes home-school classes at Frederick Community College in physics and robotics. He plans to take a flight class this summer. Daniel says he hopes to be an engineer one day.

Daniel still has to see specialists regularly, including his trips to Johns Hopkins.

He has also become more active in sharing the story about his disorder. Daniel has published a quarterly home-school newsletter, DLS News, which started out as a project for home school. He writes, sells ads and sends it to about 50 family and friends.

For the National 2008 HaveHeart campaign, Daniel raised more than $1,830. He used his newsletter to publish an article challenging readers to send in money. He awarded them prizes from items he purchased from the National Marfan Foundation. When he sent NMF the check, he asked that the money be used specifically for research.

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