February 22

Marfan syndrome sufferers seek support in central Maine

When Marfan, a rare genetic disorder, is diagnosed, it can usually be controlled.

By Matt Hongoltz-Hetling mhhetling@centralmaine.com
Staff Writer

The girl was unusually skinny. Standing in line for a water ride at Funtown Splashtown USA in Saco last summer, the 5-year-old’s ribs were clearly visible.

click image to enlarge

Normal life: Kaitlyn Parker, right, and her sister Briana play with toys Wednesday at their home in Augusta. Kaitlyn is dealing with a medical condition known as Marfan syndrome, a genetic disorder that can affect ligaments and the heart.

Staff photo by David Leaming

click image to enlarge

marfan: Mindy Parker and her daughter Kaitlyn, of Augusta, are dealing with Marfan syndrome, which afflicts the young girl and can affect ligaments and the heart.

Staff photo by David Leaming

Marfan Support Group

Marfan Syndrome, a potentially life-threatening genetic disorder that affects about one in 5,000 people, often goes undiagnosed.

People with the condition, which affects the body’s connective tissues, often are characterized by a tall, thin body type with long arms, legs and fingers. They might have very flexible joints, a curved spine, flat feet and crowded teeth, among other features.

A newly formed support group is coming together for the first time at 6 p.m. on Monday at the Red Barn, 455 Riverside Drive in Augusta. Group members plan to provide each other with support, help connect each other to helpful resources and discuss strategies to raise awareness about Marfan and related disorders.

For more information, contact Mindy Parker, chairwoman, at 465-6154 or mindy_parker@rocketmail.com

“She does look malnourished,” said her mother, Mindy Parker, of Augusta.

But when a group of young adults started making snide comments about her weight, Parker said her daughter, Kaitlyn, wasn’t shy about educating them.

“My daughter, she is very outspoken, and she’s the one who explained it to them,” Parker said. “She told them she has a boo-boo on her heart, and she tried to give them a lot of details.”

The incident, initially uncomfortable, developed into a conversation between Parker and the young adults in which they learned about the girl’s condition, Marfan syndrome.

Marfan, a rare genetic disorder, creates an unusual problem for the medical community. When it is diagnosed, it can usually be controlled with interventions; but when it goes undetected, it can be deadly. It occurs in only one out of 5,000 people, so there is no routine screening to catch the disorder, meaning those who have it often don’t realize it until it is too late.

A new group is forming in central Maine to help raise awareness of the disorder, which often can be recognized simply by looking at a person. Parker and about 20 others who are grappling with Marfan and related disorders are coming together Monday night for the first time at The Red Barn in Augusta to share information, support and strategies about how to increase public awareness.

People with Marfan, such as Kaitlyn, are born with an abnormality in the gene that produces fibrillin-1, an important component of the body’s flexible connective tissue. The defect causes the body to produce high levels of something called “transforming growth factor beta,” a protein that can wreak havoc on the eyes, the lungs, the joints and the heart.

Because many Marfan sufferers have a specific body type, failures to diagnose it are more frustrating for those who are trying to raise awareness about the condition.

People with Marfan tend to have a tall, lean frame, long fingers and elongated facial features. Some historians believe Abraham Lincoln might have had Marfan.

Other people have a large number of physical markers, which can include crowded teeth and a sunken chest, when they are young. In others, features may develop over time, and not appear until adulthood, if ever.

“Many people go through their whole life without knowing that they have it,” Parker said.

That’s a problem, because awareness of having Marfan gives a person a much better chance of living a long, healthy life, according to The Marfan Foundation, a national organization founded in 1981 to help people with the disorder.

Parker is looking for more ways to spread the word about Marfan so that more people can get help before it’s too late.

When the new support group convenes, it won’t be limited to those with Marfan.

Marfan is one of a whole cluster of related conditions, many of which have similar effects on the people who have them. One, Loeys-Dietz syndrome, is characterized by widely spaced eyes and a cleft palate.

Another, Ehlers-Danlos syndrome, is best known for its characteristic traits of extremely flexible joints and unusually elastic skin. A handful of Ehlers-Danlos sufferers have gone on to careers as circus performers.

Other related disorders recognized by the Marfan Foundation include Beals syndrome, Stickler syndrome and Mass phenotype, all of which have similar causes and symptoms.

Parker said it’s important for those with Marfan to realize that they are not alone and to be able to connect with others who share some of their experiences.


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