photo by Robert Stewart The Schmidt family, from left, Jordan, Kirsten, Peyton, Shelly, Steve and BreAnn.

by Robert Stewart

    Being diagnosed with a rare condition often results in the affected person seeing the world through new eyes. For Steve Schmidt of Seward that is doubly true.
     In June of 2005, Steve was diagnosed with the Marfan syndrome, "a genetic disorder of the connective tissue that can affect the skeleton, eyes, heart and blood vessels," according to information from the National Marfan Society. (See sidebar for more information.)
     Steve was diagnosed after doctors noticed a slipped lens in his right eye.
     "When you have a slipped lens in your eyes there's only two things it could be," Steve said.
     The possibilities were Loeys-Dietz and the Marfan syndrome. Steve's doctor recommended he see a cardiologist to confirm the Marfan diagnosis. After visiting the Nebraska Heart Institute in Lincoln, Steve went to the Omaha Medical Center. Doctors there found a slight enlargement in Steve's aorta, a common result of the Marfan syndrome.
     "When I was first diagnosed, it (the aorta) was at 3.9 (centimeters), a year later is was 4.1," he said. "When it gets to 5.0 they replace your aorta with a pig's aorta. It ends in surgery most of the time."
     The more pressing matter of his slipped lens resulted in immediate surgery to address the problem.
     The first surgery, performed in Lincoln, was not successful, necessitating a second lens replacement surgery at Johns Hopkins in Baltimore, Md. Steve and his wife Shelly travelled to Maryland the first time on April 25, 2006.
     "They put in an acrylic lens. They sew it in," Steve said.
     The surgery this time was a success.
     "With glasses and the new lens I can see 20/20 out of my right eye," Steve said.
     After visiting the Omaha Medical Center for the first time, Steve and Shelly sat down with their four children BreAnn (15), Jordan (13), Kirsten (12) and Peyton (10) to discuss his condition. Steve said the meeting was emotional for him.
     "I tried (to tell them), Shelly had to," Steve said. "They knew I was being tested, but they didn't understand it."
     The discussion helped to clarify things for the children.
     "They all kind of said, 'Yeah we understand and we want to be around (during treatments and surgeries),'" Shelly said.
     The news affected the kids in different ways, but it hit all of them strongly. Kirsten said she was "scared" when they were first told.
     "I was kind of sad and stuff, a little upset," Peyton said.
     "I was kind of scared because I didn't think anything could happen like that to my dad," BreAnn said.
     "(I was) really, really shocked because I didn't know what it was and what I could do and what I couldn't do," Jordan added.
     As the Marfan syndrome is largely a hereditary disorder and because it affects connective tissue, the activities the children could be involved in went through some changes.
     "As long is it's not a competitive–," Steve began.
     "–or contact sport," Shelly added. "Our oldest daughter (BreAnn) is in color guard and she can continue to do that."
     A sharp blow or heavy physical activity could rupture muscle or tissue already weakened by the syndrome, so care must be taken in which activities the children engage.
     "If their aorta is weak they could have an aneurysm," Steve said.
     Steve and Shelly wanted to make sure the children were not engaged in activities that had the potential to exacerbate the Marfan syndrome, if the children were affected by it.
     "All four of them made the decision that until they got checked out they weren't going to play (sports)," Steve said.
     For children active in several sports from basketball, softball, as
    a freshman, BreAnn made the Seward High School softball team, and baseball to football, giving up these activities was something of a sacrifice. Keeping everyone's schedules straight and making sure they made to practices and events occupied a lot of the Schmidts' time.
     "It was really hard at first because we were used to going and going and going and then we stopped going," Steve said.
    
    Second surgery
     The family scheduled lens replacement surgery for Steve's left eye on July 11 of this year, again in Baltimore, Md.
     The family left for the east coast a few days early, however, in order to attend the National Marfan Foundation convention in Philadelphia, Pa. Steve said the convention was helpful and educational.
     "It was good. We learned so much about it (the Marfan syndrome) and visited with so many doctors," he said.
     Shelly said staying educated about the syndrome is key for those affected by it.
     "You have to become more knowledgable than your doctor because it really is such a rare disease and you have to become an advocate for yourself," she said.
     The convention provided the Schmidt children with a chance to familiarize themselves with the syndrome and learn more about it.
     "I learned that there's not just one type of Marfan's, there are several types," BreAnn said.
     "And it affects each person differently," Shelly added.
     While in Philadelphia, Pa., the children were tested for possible indicators of the Marfan syndrome at the University of Pennsylvania.
     The children met with cardiologists, geneticists, optometrists, orthopedic specialists and pediatricians.
     All of the children were found to have skeletal features that could be first signs of the syndrome, while checks of their hearts revealed them to be functioning within normal ranges. The results of the tests eliminated some of the questions in Steve and Shelly's minds, but in dealing with medical conditions, many variables exist which make each case different.
     "Marfan's can lay dormant for some time," Steve said.
     "I as a parent wanted to go in and get the 'yes or no,' (as to whether the children have Marfan's)," Shelly said. "But it wasn't a definite yes or no."
     Steve had his surgery on July 11 as scheduled and it went well, much quicker than the last time due, in part, to the fact that the surgeons were not having to repair an earlier, unsuccessful surgery as they were on Steve's right eye.
     Steve will soon, with the assistance of glasses be able to see with 20/20 vision from both eyes.
     Recovery time from both surgeries ran to six weeks, during which Steve must limit his physical activity in order to allow his eye to heal properly.
     Which is part of the second, non-physical, way in which Steve, and the entire Schmidt family, is able to see the world through new eyes.
     "You tend to (not) worry about the little things anymore," Steve said.
     The pace of the family's life has slowed down as a result of the syndrome, but they do not let it stop them from doing the things they enjoy.
     Rather than the constant rush of sports practices, games and school-sponsored activities, the Schmidts have chosen activities that suit their new, more moderate pace better. Sports such as golf, biking, fishing and hunting will fill their days and time spent as a group fills hours formerly spent with each family member off at different events.
     Steve said living with the Marfan syndrome has helped the family to slow down and appreciate each other and the time they have together more than they did before.
     "We have more family time now," he said. "We can use the charcoal grill a little more now, rather than the gas grill. We can wait for a little while."