Spreading awareness could mean saving another’s life
By Kristen Miller
COKATO, MN With February being National Marfan Awareness month, one mother hopes to educate others about the disorder and possibly prevent a life-threatening illness from going undetected.
At age 3, Dassel-Cokato sophomore Jaden Uecker was diagnosed with Marfan Syndrome, a connective tissue disorder that affects about 1 in 5,000 people.
According to the National Marfan Foundation, Marfan Syndrome (MFS) is caused by a defect in the gene that tells the body to make a protein that is an integral component of connective tissue.
This mutation then causes different physical features such as tall and thin body type and long and skinny fingers.
Abraham Lincoln is believed to have had MFS, according to Uecker’s mother, Marie.
Other signs are curvature of the spine, which also affects Uecker, who has scoliosis and kyphosis.
Uecker also underwent a surgical corrective procedure when he was 12 years old to repair what is called pectus carinatum, or pigeon breast. This is when the chest protrudes and causes respiratory problems, making strenuous exercise difficult for the individual.
There are also various medical conditions common to people with the disorder including an enlarged or bulging aorta, the main blood vessel that carries blood from the heart.
Eventually, Uecker will need his aortic valve replaced to prevent a fatal rupture or tearing.
Eyes can also be affected for people with MFS.
Once a year, Uecker needs surgery on one of his eyes due to a separation of the lens.
Marfan’s affects everyone differently. “Some are more extreme, like my boys,” Marie said. Uecker’s older brother, TJ, also has MFS. Though TJ’s heart condition isn’t as bad, his back is worse than Jaden’s, Marie noted.
Currently, he goes for physical therapy twice a week to correct his spine. If the therapy isn’t successful, he may need to have titanium rods surgically placed.
For Uecker, it’s not the physical features of MFS that bother him; he just considers himself a tall person, as do his friends, who are unaware of the disorder.
It’s not even his regular doctor appointments that annoy him. After all, they get him out of school.
What frustrates Uecker is that MFS prevents him from playing football and other contact sports that he would like to play. Though he can still play catch, it’s the tackling he has to avoid, and hits to his chest.
Uecker must keep a steady blood pressure and avoid any instances where he could get hit in the chest.
If Marie sees Marfan’s listed on the sports screening test, she knows her boy is unable to participate, she said.
An added frustration is MFS makes it more difficult finding clothes that fit, Uecker commented.
At 6 feet 8 inches, Uecker said he is the tallest student in school.
“I hate the restrictions and not being able to do what I want,” Uecker said.
A person born with MFS may go years without it being detected.
Uecker’s grandmother was 30 before she was diagnosed with the disorder. His father also has the disorder, and people with MFS have a 50 percent chance of passing on the mutation to thier children.
Today, it’s much easier for people to be tested for MFS rather than in years past, Marie said, explaining that it’s just a simple blood test rather than a genetic formula that was used when Jaden was first diagnosed.
Though Jaden doesn’t worry much about it, it’s a scary thing for his mother, who said Jaden has to have an emergency plan at school if something were to happen due to his heart condition.
There is no cure for Marfan’s, though advances in medical care are helping people live longer and maintain a quality of life, according to the National Marfan Foundation.
It is also important that those with Marfan’s get the treatment they need and follow medical advice.
Though he wishes he were able to someday join the National Guard, Marfan’s prevents Uecker from joining the military, Instead, is looking forward to graduating high school and going to college for auto mechanics. But for now, he plans to “just live life the way I can,” Uecker said.
For Marie, this isn’t something she had planned when she became a mother; having to take her sons to the University of Minnesota for doctors appointments and seeing them undergo various surgeries.
She also knows that even though they have it worse than some, “we have it better than others,” Marie said, which helps keep her going.
For more information about Marfan’s Syndrome, visit www.marfan.org or call the National Marfan Foundation Resource Center at (800) 862-7326 ext. 26.