Two years ago, six-year-old Sean Alderson was enrolled in karate class and excited for his first T-Ball season. He was outside kicking a ball around, on a day like every other carefree day before that. Then his vision got blurry, and the colors around him changed. He felt weak and looked pale.
After two more fainting spells within two weeks of the first, Sean’s mother Kristina rushed him to the emergency room. They were referred to a cardiologist at the University of Florida, where he was diagnosed with a bicuspid aortic valve and mild to moderate aortic root dilation. A normal aortic valve has three cusps, like a peace sign; Sean has one flap dividing his valve into two cusps, which makes his heart work harder to pump the blood throughout his body.
Sean was no stranger to the doctor. He was born at Wolfson’s Children’s Hospital two months premature, before his lungs were fully developed. He had to be put in an incubator immediately. Kristina didn’t get to meet him until two days later. She calls it “the most traumatic experience you could ever go through in your life.”
When Sean went in for his yearly follow-up last May, doctors recognized his issues as symptoms of Marfan syndrome, a rare and potentially life-threatening connective tissue disorder caused by a gene mutation. Physical characteristics of the disorder include long limbs, loose ligaments, flat-footedness, crowded teeth, and a high-arched palate. Sean exhibits all of these traits. He also has pectus excavatum: his ribs have grown abnormally to where the middle of his chest is sunken in, which could eventually press down on his heart and force it to change shape as it grows.
The gene mutation causes variable expression, so each patient is affected differently and thus treated on an individual basis. As Sean grows, other obstacles could arise, or the severity of his current ailments could change. Intelligence is unaffected.
Kristina says, “It’s crazy to think, it’s kind of like they took all these different [chronic] things and said, ‘Well let’s just put them in a bowl and this is Marfan.’ It makes things extremely complicated.”
According to the Marfan Foundation’s website, approximately 200,000 people have Marfan syndrome or a related disorder. Half of those cases are undiagnosed.
Sean goes to Neptune Beach Elementary School, where his favorite subject is math. Kristina met personally with the nurses, and an informal meeting was held to educate the faculty. The school also has a defibrillator on site, which is imperative in case of an emergency.
After waiting eight months for the results of his genetic testing, Sean’s doctors confirmed their diagnosis of Marfan syndrome. He was forced to retire from the karate dojo and never got the chance to lace up his cleats for the baseball diamond.
He was, however, approved to start swimming at the YMCA this summer. He won’t be participating in any competitions for now, but Sean likes being in the water, especially when he peeks over into the deep end. A true renaissance man, he also takes piano lessons to keep his fine motor skills sharp and has a knack for pottery.
“You have to find other ways of tapping into their creative side, or some other talent within them,” says Kristina. “Most of the time, everyone wants their kid to be some superstar in sports, and when they just can’t do it, you have to find another outlet for them.”
Sean participated in Neptune Beach Elementary’s “Fun Run” to raise money for new school facilities. The students exchange laps for donations and pledges, and he was right there with his classmates, earning a tally mark on his shirt for every one he completed. His heart started to hurt and he left for the clinic, but not before completing 28 laps, only three shy of his mark from the year before. He is alert to his body and knows to rest or find an adult if he feels a spell approaching.
“He still likes to run and play and do everything, and as a parent, how do you slow him down?” Kristina asks. “How do you say, ‘No, you cant do that,’ you know? So you kind of have to let him go, let him do his thing. And I was kind of expecting the phone call [after the fundraiser].”
Sean’s birthday is July 19th and he hopes he can add to his collection of XBOX games on the occasion (he already has Minecraft so please choose something else). He likes reading Pete the Cat: I Love My White Shoes. Sean never loses his cool, either. He wants to be a policeman when he grows up and has an excellent memory. If you make a promise to him, you’d better keep it, because he will remember and hold you to it.
For now, Sean is waiting as patiently as any seven-year-old can for the weather to warm up and the pool to open. In the meantime, it is his and Kristina’s mission to continue raising awareness about Marfan syndrome and the potential hazards it poses to the youth sporting community. Long limbs and height are ideal traits for basketball and swimming, but Kristina sees possible Marfan symptoms instead of athletic potential. The rash of sudden unforeseen deaths on the football field and basketball court could be connected to the disorder and the undiagnosed heart problems that accompany it.
Kristina says, “Most of the time, a person does not find out that they have it unless something tragic happens, where they have an aortic aneurysm or an aortic dissection, and that is where the life-threatening part comes into play.”
Flo Hyman was captain of the U.S. Women’s Olympic Volleyball team in 1984. She collapsed suddenly during a match in Japan two years later and died on the bench from a weakened aorta. It wasn’t until an autopsy was performed at the request of her family was it discovered that the seemingly healthy Hyman had Marfan syndrome and was never diagnosed.
Former Baylor University basketball star Isaiah Austin was four days away from being taken in the first round of the NBA Draft last year when doctors discovered his enlarged arteries during a physical. Austin has been blind in his right eye since he was in middle school due to a detached retina; ocular issues are a Marfan red flag, too. His hoop dreams were over, but his life may very well have been saved in the process.
“It’s difficult to live with, but once you figure it out, it’s a reality,” says Kristina. “Early diagnosis is key. We’re losing too many people this way.”
North Florida/ Inspirational Story/ April 2015
Sean Alderson
Neptune Beach Elementary School
Neptune Beach, FL
Brandon Ibarra
Young Swimmer Raises Awareness for Marfan Syndrome
