Thriving With Marfan Syndrome

Foxy Kusin, with a team of Doernbecher heart doctors and other specialists, is ‘full of life and love’

Foxy Kusin with her mother and healthcare providers
When Shana Kusin (center, with daughter Foxy) learned that her daughter showed signs of a rare connective tissue disorder, she turned to specialists at Doernbecher. They include cardiologist Kathryn Holmes (left) and genetic counselor Jessica Kushner (right).

Her blond hair and colorful glasses are easy to spot as she pops into cafes with her mom. She loves to sip hot chocolate from tiny espresso cups, eat croissants as big as her head and sing along to live kids’ music.

Foxy Kusin with Doernbecher’s Dr. Holmes, her heart specialist
Foxy Kusin with Doernbecher’s Dr. Holmes, her heart specialist.

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.”

An emotional waiting game

Doernbecher patient Foxy Kusin playing with blocks
Foxy’s health concerns — including development issues with her eyes, heart and bones — haven’t stopped her from being an outgoing, affectionate toddler.

Most children with Marfan syndrome inherit it from a parent. In Foxy’s case, a gene mutated on its own early in her fetal development.

Kusin, an OHSU emergency room doctor and toxicology expert, remembers the moment she learned something might be wrong.

A single mom by choice, she was thrilled to be pregnant. Everything was going well until her 20-week ultrasound, when a detailed scan picked up abnormalities. Foxy had clenched hands, an enlarged kidney and extra fluid in her brain.

It was the beginning of an intense, emotional time.

Kusin found the support and answers she needed in Doernbecher’s Fetal Therapy Program, which offers prenatal diagnosis and treatment.

She saw multiple specialists and had tests, including an echocardiogram of Foxy’s heart, MRI (magnetic resonance imaging) of her brain, and gene sequencing.

During her seventh ultrasound, Foxy opened her hands for the first time, and her brain and kidneys looked normal. Kusin was so relieved she burst into tears. She hurried down the hall to share the good news with her geneticist.

The geneticist shared that test results showed Foxy had the markers for Marfan syndrome. It was a shock to the whole team. They wouldn’t know if she showed any physical signs of the disorder until she was born.

They just had to wait and see.

“She is extraordinarily special”

“I wanted her out because I wanted to know,” Kusin recalls. “I wanted to see her alive in the world to know what we were dealing with.”

Kusin knew as soon as she saw her: Foxy was long and thin.

Doernbecher patient Foxy Kusin playing with Dr. Kathryn Holmes
Foxy has what can be a serious heart condition, so she sees Dr. Holmes and her Doernbecher care team often for monitoring and treatment.

“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.”

Doernbecher patient Foxy Kusin with her mother Shana Kusin reading a book
Foxy’s mom, Dr. Shana Kusin, doesn’t mind that her daughter loves the spotlight. “The more we talk about Marfan, the less she’ll get stared at — or at least people will understand,” she says.

A magnetic personality

Foxy makes friends everywhere she goes.

“When she was a baby, she had a way of looking at people,” Kusin says. “Strangers would come up to me in a cafe and say, ‘I feel like your baby is staring into my soul.’ Now she just goes up and talks to them.”

Foxy often makes up stories and songs with her stuffed animals as the audience. At kids’ concerts, she’s first in line for a chance to take the microphone for a dramatic solo.

When she walks around her neighborhood with her mom, she likes to stick her head in every cafe and shop to greet friends.

“It’s her world,” her mom says. “We’re all just living in it.”

— By Suzanne Pardington Effros, a Portland writer who previously worked as a communications specialist at Portland State University and as an education reporter at The Oregonian.

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