Look closer, and you’ll see the telltale signs of her rare genetic disorder, Marfan syndrome.

At 2½, she’s unusually tall and thin, with a narrow head and extra-long arms, fingers and feet. She stoops and limps a bit from a curved spine and one foot that curls inward. But she doesn’t let any of it hold her back.

Foxy, short for Vega Lilou Foxglove, thrives in the spotlight. And her mom, Dr. Shana Kusin, thinks that’s for the best.

“The more we talk about Marfan, the less she’ll get stared at — or at least people will understand,” Kusin says. “And if people do stare or ask questions, she’s that much more comfortable. Ultimately, it makes it something that’s less stressful or weird to her.”

Foxy has a big cheering section at OHSU Doernbecher Children’s Hospital, home to the largest team of Marfan specialists in Oregon and southwest Washington.

Marfan syndrome weakens connective tissues throughout the body. It can cause a range of problems with the heart, blood vessels, bones, joints and lungs throughout life. Some people aren’t diagnosed until they develop serious heart issues as teenagers or young adults. Their parents and other relatives also may have the condition and not know it. 

“Having family-centered care that’s lifelong is extremely important,” says Dr. Kathryn Holmes, Foxy’s heart specialist. “Our goal is to support the children and the families, and address the multiple facets of all their issues, which are different for each patient and change over time.”

“They held her up, and I looked at her and thought, ‘My kid has Marfan syndrome. She’s got it,’” Kusin says. “I know what it looks like. They didn’t have to explain anything to me.”

Since then, Foxy’s pediatrician and a team of specialists at Doernbecher and Portland Shriners Hospital have worked together to address Foxy’s health issues, including heart, eye and bone problems.

Her first challenge was learning to walk. With help from a physical therapist, ankle braces and a walker, she took her first steps at 22 months old. She walks independently now but still moves slower than most kids.

Foxy’s biggest ongoing health risk is her heart.

Like many Marfan kids, Foxy has an enlarged aorta, the major blood vessel taking blood from the heart to the body. Without the right monitoring and treatment, the aorta can stretch, bulge, leak and tear, a life-threatening condition.

Foxy takes daily medicine to lower her blood pressure, slow her heart rate and reduce the pressure on her aorta. She also has regular echocardiograms to check her heart function, valves and aortic root.

Eventually, she will need surgery to replace her aorta with a synthetic tube. The timing is crucial. Her doctors want to delay it as long as possible to give her heart and body time to grow to full size. If she has the surgery when she’s little, she might need to have it again when she’s bigger. But they can’t wait too long and risk a devastating tear.

In the meantime, they want Foxy to be an active, happy kid. And that’s exactly what she is — outgoing, talkative and fun.

“She is extraordinarily special,” Holmes says. “She’s just a joy to be around. The kid is just full of life and love. These are hard conversations to have with people, and she’s one of the kids who reduces the stress in the room.”