Tall and skinny with long fingers is typically a build that is revered by basketball coaches, but it is also one watched for by doctors.

Combined with double jointed fingers, eye problems, flat feet, scoliosis, and heart murmurs, the athletic build is a sign of a rare disease known as Marfan syndrome.

Dena Kemmet calls her 14-year-old daughter Courtney the poster child for Marfan syndrome because of her elongated body.

Courtney's hips are misplaced to the middle of her torso in line with her unusually high belly button. Her family calls it her "Marfan belt."

"The proportion of her body is just different," Dena Kemmet said.

Although Courtney is built like an athlete and is naturally athletic, she is not allowed to play sports because of Marfan syndrome. Because of the possibility of aortic dissection and lung collapse, Marfan patients must monitor their heart rates during activity.

"Sports are not recommended," said Selma Kerzman whose son Andy is a Marfan patient.

Rather than playing sports, Courtney enjoys music. She plays the piano, drums and guitar.

"Deal with what is on your plate," Dena Kemmet said.

Kerzman's 6-foot-5-inch son was often told that he should play basketball. He would respond by saying "Do you know it could kill me?"

The constant stopping and starting involved in running sprints is especially dangerous.

"They are allowed and encouraged to run, just not sprinting," Kerzman said.

Kerzman and Dena Kemmet have struggled with their family members' disease alone. North Dakota lacked a National Marfan Foundation chapter until the two friends who were united by the disease decided to take action.

"We didn't have anything local," Kerzman said.

Now they meet every three months to support each other in a positive manner.

"It is not a sit down and cry," Dena Kemmet said. "We do not dwell on the negative."

Marfan syndrome is a result of a defective gene that affects the production of fibrin which creates elasticity.

Over time the vessels are overstretched and become stiff.

"The major problem with that is the aorta," Kerzman said.

Exercise causes the major vessels in the heart to expand and contract more frequently increasing the possibility of aortic dissection.

People with Marfan also suffer from heart murmurs as a result of elongated valves that cannot close completely.

For Kerzman's son Andy, and many Marfan patients, heart surgery has never been a question of necessity but of timing. Now 23 years old, he has yearly check-ups.

Kerzman's husband was officially diagnosed with Marfan shortly after they were married. She suspected her son had Marfan syndrome shortly after he was born, and noticed that his rib cage was inverted - the pectice is a typical sign of Marfan syndrome.

Kerzman's husband Blake died from complications of Marfan syndrome at age 47. His mother died when she was 29 years old from the same disease.

The National Marfan Foundation is researching treatments for Marfan syndrome, but its knowledge of the disease is still limited.

"Ten years ago they didn't know where it was in the gene," Kerzman said.

While doctors are becoming more knowledgeable about the disease, Marfan syndrome is often not diagnosed until autopsy.

"You educate yourself on what you need to know," Dena Kemmet said.

An aortic dissection presents itself with chest pain and can be misinterpreted as a heart attack. Unlike typical heart patients, CPR compressions can actually cause more damage.

For this reason, Dena Kemmet and Kerzman hope to increase knowledge about Marfan syndrome especially to emergency medical response personnel.

They have begun training. provided by the National Marfan Foundation, in Beulah where Dena and Courtney Kemmet live.

"We want to raise awareness," Dena Kemmet said.

They are hoping to expand the training to the entire state.

(Reach reporter Kay Kemmet at 250-8260 or kay.kemmet@;bismarcktribune.com.)