WOODSTOCK – Walter Stukel, 11, isn’t allowed to run out of breath.
He has a connective tissue disorder, so even though he looks healthy, he has to sit out in gym classes and not participate during parts of his tae kwon do practices.
“Sometimes it’s kind of freaky because I ran at a bus once, and you can feel your heart start to hurt,” he said.
He and his mom, Sheri, both of Woodstock, were diagnosed recently with connective tissue disorder, which is related to Marfan syndrome. The syndrome is characterized by long arms and legs, curvature of the spine, and above average height. It affects about one in 5,000 people in the United States.
Notably, a number of professional athletes have had the disease, including U.S. Olympic volleyball captain Flo Hyman, who died from it during a 1986 game while sitting on the bench. Some also believe that Abraham Lincoln had the syndrome, said Bruce Klein, president of the Northern Illinois chapter of the Marfan Foundation.
Internally, the problem that causes Walter such strict exercise restrictions is an aortic aneurysm, which can lead to death if it dissects. He and his mom have to avoid not only running out of breath, but also heavy lifting.
“We got some shelving at Target, and I had to ask for someone to help put it in the cart, and we look fine,” Sheri Stukel said.
Treatments, surgery and preventive measures can have a strong impact on Marfan patients though, which makes diagnosis all-important, said Chris Malaisrie, assistant professor of Cardiac Surgery at Northwestern Memorial Hospital in Chicago.
This is most evident in the average life spans of patients with the syndrome. Those who go undiagnosed usually live to about 40 years old, while those who know they have it can live to be about 70 years old.
“I’m very interested in caring for these Marfan patients,” he said. “Because we can dramatically improve their longevity.”
The Stukel family found out about their own diagnoses after Sheri saw an ad about the syndrome and decided to get tested. The syndrome usually is genetic. Sheri Stukel had no basis to assume that she was genetically predisposed, though, because she was adopted.
“Fifty percent of the people who have this, they don’t know they have it until they have died,” she said. “It’s just funny now, because I see people a lot now, and I want to go up to them and say, ‘Do you have this?’”
Sheri and Walter Stukel both have long limbs and are on the tall side. They also can wrap their thumb and pinkie finger around his wrist and have them overlap, and Walter can turn his foot backward – characteristics of the syndrome.
Sheri Stukel said despite knowing of the characteristics before being diagnosed, she didn’t believe it was something that could affect her.
“Quite honestly, I had just been confronted with it enough times that I just wanted to get it off the table,” she said.
The Marfan Foundation’s Klein, himself a victim of the disease, said it was scary that so many people didn’t know they had the disorder.
He was diagnosed when he was rushed to the hospital because he thought he was having a heart attack, but instead he was having an aortic dissection.
“I was lucky enough to run into a doctor who had … just finished reading about Marfan syndrome,” Klein said, adding that the doctor looked at his arm span and high arched feet and diagnosed him.
The encounter was nothing short of a miracle, he said.
“It could have been catastrophic otherwise,” Klein said. “When they did the open heart, they said I had maybe another two hours.”
The disease often is misdiagnosed, something his organization tries to combat.
“We want to reach out to the local areas as well as to local physicians and local professionals to help educate them,” he said.