Nora McDougall was born in 2020 with a rare genetic disorder that causes severe, frequent seizures. For her parents, Katie and Bo, managing her care felt overwhelming until a new approach at Golisano Children’s Hospital at University of Vermont Health began to make a difference.

The family credits an innovative model created by Christian Pulcini, MD, a pediatric emergency medicine physician at Golisano Children’s Hospital and UVM Medical Center. It brings all Nora’s medical providers together and gives her parents a real voice in her care. They hope their experience can help other families, especially those in rural areas.

“For me, as a mom, it gave me a sense of control over something that I had no control over,” Katie says.

A Rare Disorder

During Katie’s pregnancy, concerns led her providers to transfer care to Golisano Children’s Hospital, about two hours from their home in Rutland. Nora spent her first three weeks in the neonatal intensive care unit, weighing less than 5 pounds and facing issues including high blood pressure, a collapsed lung and respiratory failure.

In early 2021, Nora had her first seizure and was diagnosed with Wolf-Hirschhorn syndrome, a condition affecting fewer than 50,000 people in the U.S. By age 4, she had endured 18 seizures, often requiring emergency care. Six times, seizure medications caused her to stop breathing.

One day, after stabilizing Nora in the ER, Dr. Pulcini asked the McDougalls a simple question: “I said, does this happen often?”

Their answer — “Yes” — changed everything.

It Takes a Neighborhood 

Dr. Pulcini had been developing an “emergency care action plan” for children with complex medical need, specifically those with multiple chronic health problems that require care that many general and rural hospitals may not be able to provide. After hearing Nora’s story, he knew she was the perfect candidate.

Dr. Pulcini and the McDougalls created a plan addressing Nora’s seizures and respiratory issues, connecting providers from Vermont and Boston Children’s Hospital.

“Kids with medical complexity, we say they have a ‘health neighborhood,’ and this is a good example of that. We connected that health neighborhood for Nora,” Dr. Pulcini says.

The team worked together to make sure Nora gets fast, reliable care, even in a rural state. Here’s what they put in place:

• An emergency department care plan with medical protocols, the equipment needed and contact information for Nora’s care team.
• Ready-to-use access kits for seizure treatment, created with help from her infusion team.
• A respiratory care box at the local ER with equipment sized for Nora.
• Regular check-ins among caregivers to coordinate and adjust Nora’s care.

Empowering and ‘Life-Changing’ 

These steps don’t just support Nora’s health — they give her parents peace of mind.

“For us, it was huge,” Katie says. “Because otherwise, you’re sitting there watching your 2-year-old convulse on a table, and there’s nothing you can do besides hold their hand.”

Leah Pence, a pediatric complex care case manager at UVM Medical Center, has been a key connection, including handling logistics and pulling appointments together.

“We try to think two or three steps ahead,” Pence says. She calls the emergency care action plan “life changing.”

Lessons for Others 

Dr. Pulcini and the McDougalls shared Nora’s story in the journal Pediatrics, hoping it can be a national model for proactive planning and teamwork. Dr. Pulcini’s research continues, and he believes that these kinds of plans can improve care and quality of life, reduce hospital visits and lower costs.

Nora’s progress speaks for itself: She started school, and her care plan has been fully embraced there. For Dr. Pulcini, the ultimate reward was a photo of Nora on vacation, her family feeling safe because of the plan. “That’s what’s inspiring,” he says.

To read more about Dr. Pulcini and his work, click here to read his article in Pediatrics.

To learn more about pediatric specialty care at Golisano Children's Hospital at UVM Health, click here.