Ten-year-old Ava has big plans for her future. Some days she talks about becoming a police officer. Other days she’s more interested in being a “candy queen.” She loves swimming, shopping for unusual treats at World Market near her Arizona home, playing with neighborhood friends and spoiling Simone, the family’s long-haired Nebelung cat.

Most of all, Ava likes to stay busy. “She’s go, go, go all the time,” says her mother, Jessica. “If she’s not doing something, she’s telling me she’s bored.”

Today, Ava can run, jump, swim and play without restrictions. But just a few months ago, her family was facing one of the most difficult decisions of their lives: whether to pursue major spine surgery for a rapidly progressing scoliosis curve in a child with Williams syndrome, a rare genetic condition that can make surgery especially concerning.

Their local children’s hospital was only minutes from home. Instead, the family boarded a plane and flew more than 2,000 miles to Children’s Hospital of Philadelphia (CHOP).

“Our stress wasn’t really about the scoliosis surgery itself,” Jessica says. “It was about everything else that comes along with Williams syndrome. Most doctors aren’t familiar with it, and even those who have studied it for years still have questions they can’t explain.”

A mother’s instinct

For much of Ava’s infancy, Jessica knew something wasn’t quite right. Ava wasn’t meeting milestones. Nursing was challenging. She was colicky. Jessica also noticed her daughter’s neck consistently tilted to the right side.

One pediatrician suggested simple stretching exercises for what might be torticollis. But Jessica couldn’t shake the feeling that there was something more.

“You know your child best,” she says. “I just kept feeling like there was something more.”

After evaluations with multiple specialists and nearly a year of waiting for genetic testing, the family finally got an answer: Ava had Williams syndrome, a rare genetic condition caused by missing genes on chromosome 7. Ava was 15 months old. The diagnosis brought both relief and heartbreak.

“As a parent, you want answers,” Jessica says. “But then once you have the answer, you realize there’s nothing you can fix. You just have to figure out how to give your child the best life possible.”

Over the years, that meant physical therapy, occupational therapy, speech therapy, horseback riding therapy and music therapy. There were challenges in school and concerns about developmental delays. 

But there was also Ava – funny, social, curious, and sometimes a little bossy. She’s the kind of kid who can make friends anywhere, and make busy strangers stop to have a conversation with her.

A frightening discovery

On Christmas Day 2024, Jessica was helping Ava with a bath when she froze.

“I looked at her back and immediately thought, ‘Oh my gosh,’” Jessica says. “I couldn’t believe what I was seeing. Ava’s spine was obviously curved, as if it happened overnight.”

Just weeks later, X-rays confirmed Ava had severe scoliosis – a “S” shaped curve to her spine that measured 44 degrees. Surgery is often a treatment for scoliosis, but like many families caring for a child with Williams syndrome, Jessica knew to be cautious. Instead, Jessica and Ava’s doctors began investigating non-surgical options to prevent the curve from getting worse. 

Doctors recommended Ava wear a Boston brace, a hard plastic device that’s designed to slow the progression of scoliosis. She was supposed to wear the brace 23 hours a day. The experience was miserable for Ava and her family. Every night became a battle – and hot Arizona summers didn’t help. The brace was hot, uncomfortable and difficult for the 10-year-old to understand.

“Honestly, it was one of the hardest things we’ve dealt with,” Jessica says. “It was harder than many other parts of the Williams syndrome journey.”

Ava’s dad, Blayne, encouraged consistency for sticking with the treatment. But Jessica often found herself giving in and letting Ava go without the brace when her daughter became overwhelmed.

“I’d look at her and think, she’s just a kid,” Jessica says. “She’s exhausted. She’s upset. Most of the time I just couldn’t make her do it.”

Six months later, the family returned for follow-up imaging. The curve had worsened – growing to 57 degrees in just a short amount of time. Her doctor wasn’t surprised the brace hadn’t worked for Ava, calling it a “Hail Mary” attempt. Surgery was now unavoidable.

Looking beyond distance

For many families, choosing where to have surgery often comes down to convenience. For Ava’s family, convenience made one option obvious: Phoenix Children’s Hospital. It was close to home, follow-up appointments would be easier, and recovery would be less complicated.

But Jessica kept thinking about Ava’s Williams syndrome. Families affected by the condition often worry about anesthesia because of associated cardiovascular concerns. Although Ava’s congenital heart conditions were mild, Jessica knew they wanted a team that understood the complexities of Williams syndrome before, during and after surgery.

Fortunately, the family already had a connection to CHOP. Ava was participating in a Williams syndrome research study led by Carolyn Mervis, PhD, through the Armellino Center of Excellence for Williams Syndrome (ACE for WS). The unique center was created in 2022 and combines the expertise of clinicians and researchers from Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn). The Armellino Center of Excellence for Williams Syndrome at CHOP cares for both youth and adults with Williams syndrome.

When Jessica mentioned the scoliosis diagnosis, the ACE for WS team immediately helped connect the family with CHOP pediatric orthopedic surgeon Jason B. Anari, MD, and other specialists.

What happened next surprised her. Before ever meeting Ava, Dr. Anari contacted her Arizona orthopedic surgeon to discuss her case and coordinate future follow-up care if the family chose CHOP. “It just showed us how invested he already was,” Jessica says. “He was thinking about Ava before he had even met her.”

The family also met with Mark Levin, MD, a cardiologist with the ACE for WS Center at CHOP and Penn. For the first time, Jessica felt like she wasn’t responsible for educating an entire medical team about Williams syndrome.

“Usually, when you have a child with a rare disorder, you’re the one explaining everything,” she says. “You’re the one making sure everyone understands.”

This time was different. The experts already understood. And they were talking to one another.

Surrounded by experts

In the months leading up to surgery, Jessica watched as specialists across CHOP and Penn coordinated every aspect of Ava’s care. Additional pre-surgery testing was planned. Extra precautions were added. Questions were anticipated before they became concerns.

By the time the family flew to Philadelphia in March 2026, Jessica felt something she hadn’t expected: a sense of calmness. 

“We just trusted them,” she says.

The evening before surgery, Ava was admitted for additional cardiac imaging, monitoring and fluids. Extra precautions were designed to ensure the safest possible experience. Then came an unexpected act of kindness.

One of Ava’s anesthesiologists, Jeremy C. Zuckerberg, MD, a critical care fellow at CHOP, noticed Ava’s candy-filled Paw Patrol watch and struck up a conversation about the characters. 

The next morning, he returned with a surprise. With permission from his young son, Dr. Zuckerberg brought Ava a Paw Patrol figurine from home. To most people, it might have seemed like a small gesture. To Jessica, it meant everything.

“Anesthesia was one of the things I was most afraid of,” she says. “And the doctor I was worried most about – unbeknownst to him – was the one who went above and beyond to make her feel comfortable.”

As Ava headed into surgery, clutching her new toy, Jessica felt a little lighter. “It felt like a sign that everything was going to be okay.”

Back to being Ava

On Friday, March 4, 2026, the 4-hour surgery to fuse six vertebrae in Ava’s spine was successful. Throughout the procedure, Jessica received reassuring updates and messages from the care team.

Afterward, recovery felt impossible but somehow came quickly. In typical Ava fashion, she soon decided she was finished with her hospital stay and was discharged the following Monday.

When she returned home to Arizona less than a week later, she quit taking her pain medication, insisting she didn’t need it anymore. Indeed, her progress accelerated almost daily. She went back to school after a month. And by 12 weeks post-op, physicians cleared her to return to all the activities she loves: swimming, running, jumping, playing with friends, and candy shopping! Ava’s also exploring future opportunities with Special Olympics, after hearing they have a pickleball team; a sport she recently discovered she likes.

Today, Ava has no restrictions. Jessica watches her daughter race through life with the same enthusiasm she’s always had. Only now, her spine is straight and her future feels open.

“I want her to be as independent as possible,” Jessica says. “I want her to have friends, hobbies, and a job she enjoys. Ultimately, I just want her to be happy.”

For a family that crossed the country searching for expertise and peace of mind, seeing Ava back to being herself may be the greatest outcome of all.