Constable: Marfan family urges early detection, treatment

When you are young sisters attending your first concert, and watching your beloved Taylor Swift perform "The 1989 World Tour" on a gorgeous July night in a rocking Soldier Field, nothing can tear you away.

Well, almost nothing.

"I love Taylor Swift. But we left the Taylor Swift concert early to go to camp," says Nicole Mendez, a 13-year-old Hoffman Estates girl who puts more value on the friendships she's made because of her life-threatening disorder. Nicole and her 12-year-old sister, Melanie Mendez, don't let anything come between them and the chance to hang out with their friends who understand how they cope with their Marfan syndrome.

The sisters and their mom, Josie Villarrubia, who also has the genetic disorder, say their summer vacations are best spent at Minnesota's Camp Odayin, for kids with heart issues, and the Marfan Foundation's Annual Family Conference, which was in Chicago last weekend. Wouldn't the kids rather go to Disney World?

"Never!" says Melanie. "If we have to go somewhere else, and it messes with camp or conference, we don't want to do it."

Villarrubia understands her daughters' desire for camp and conference with people familiar with Marfan.

"It's so important for the girls. They have someone who gets it," she says.

A rare, incurable disorder that affects the body's connective tissue, Marfan often is recognized as an ailment that can make people tall and skinny, with long arms, legs and fingers. But Marfan, named after the 19th-century French doctor who first diagnosed it, and related syndromes also can cause life-threatening problems in the heart, crippling pain, curvature of the spine, lung issues and vision problems.

"It's difficult to diagnose," says Dr. Marla Mendelson, a cardiologist at Northwestern Memorial Hospital, which co-hosted the Marfan conference with the Ann & Robert H. Lurie Children's Hospital of Chicago. "Sometimes it takes a while to see the signs."

Baylor University basketball star Isaiah Austin wasn't diagnosed with Marfan until shortly before the 2014 NBA draft, in which he was expected to be a top draft choice. The 7-foot-1 standout had to give up basketball immediately because of his heart and now is a vocal advocate for people with Marfan.

Villarrubia, who was born in Chicago and spent much of her childhood in Puerto Rico, says she was fortunate to be diagnosed at age 9 by a young medical resident who had just learned about Marfan. Her daughters, who each had a 50 percent chance of inheriting Marfan, were diagnosed as toddlers. They don't remember a time without frequent hospital and doctor visits, eyeglasses and daily medications to keep their aortas from malfunctioning.

"I don't want it to explode," Melanie says, her eyebrows and her voice rising with emotion as she places both hands over her heart.

"She's pretty dramatic about it," Nicole says with an eye roll of her own.

But Melanie has a point.

"Early diagnosis and treatment are essential," says Eileen Masciale, consulting director of communications for the Marfan Foundation at marfan.org. "If you aren't diagnosed and treated, you are at risk of a sudden early death due to a tear in the aorta, the large blood vessel that takes blood away from the heart."

Genetic testing can identify Marfan early so the symptoms can be treated, but with the aorta, "there are no symptoms until it tears," Mendelson says.

Jonathan Larson, the composer and playwright most famous for "Rent," died at age 35 of an aortic dissection believed to have been caused by undiagnosed Marfan syndrome. Former Olympic and 6-foot-5 professional volleyball player Flo Hyman died at age 31 of the same thing during a game in 1986. After his mother died of aortic dissection, Austin Carlile, frontman for the band Of Mice & Men, was diagnosed with Marfan and now speaks out about the need for early diagnosis.

With early treatment, most Marfan patients live long lives, Mendelson says. "My aorta has been stable for many years because of the medication," says Nicole, who takes a combination of seven drugs every day. She also had surgery in February to correct a severe twisting of her spine, which had her using her wheelchair often.

"I have trouble with the stairs. My heart rate speeds up a lot," Nicole says. That exertion also causes pain in her legs and difficulties breathing because of her obstructive and restrictive lung disorder. Since her surgery, she only uses her wheelchair for longer walks.

"They put in two titanium rods, 14 screws and some hooks," says Nicole, who now stands 5 feet, 7 inches and weighs 110 pounds. Melanie has been a stable 5 feet, 5 inches since 5th grade. Their mom reached her top height of 5 feet, 9 inches in fifth grade.

Nicole, who will be a freshman at Hoffman Estates High School, paved the way for her sister, who will start seventh grade at Eisenhower Middle School. The schools have been very accommodating, Villarrubia says. But the first day of school always brings comments about the girls' long legs and fingers or questions about whether they play basketball or why they don't have to do the same PE classes as most kids.

"I've gotten that first question every year from kids. I'm not worried about it," Melanie says. "It's just something that happens."

The girls' best friends live in Illinois, near the Iowa border.

"I met my best friend six years ago at the (Marfan) conference in Rochester, Minnesota," says Nicole. That girl, who has Marfan, has a younger sister without Marfan who became Melanie's best friend. The families get together several times a year and, of course, at last weekend's conference in Chicago.

"Everyone embraces you," Villarrubia says of the Marfan community, which refers to itself as a "Marfamily."

"There are always old friends to see and new ones. It's fun to hang out with other people with Marfan syndrome or at least be with other people who understand," Melanie says.

Eight years ago, Villarrubia started a support group for Marfan families who speak Spanish. Now she conducts workshops in Spanish at the conferences, which also include presentations and consultations with top Marfan doctors.

"It's good to get a new perspective from other doctors," says Nicole, who says last year's conference helped speed up the process for her surgery that corrected the 72 percent twist in her spine to only 8 percent.

Both taking advanced classes in school, the girls' physical activity must be restricted because of their heart conditions.

"I wanted to do karate," Melanie says. She also wants to sky-dive, or at least ride a roller coaster.

"Every single time I go to the doctor, I ask if I can do something, and the answer is always no," Melanie says. "It's kind of heartbreaking that you can't do the thing you want to do. But we can do a lot."

Books make Nicole happy.

"I've always liked to read," Nicole says. "And a few years ago, I got a camera for my birthday. Depending on how you do it, it's a lot lower impact than jumping out of planes."

While many young girls can be shy and self-conscious about revealing details of their lives, the Mendez sisters say they feel a responsibility to encourage people to learn about Marfan and get early testing and treatment.

"We don't mind telling people anything," Nicole says. "You have to be your own advocate when you have a rare disorder."