Beyond PCD: Eliana and Owen’s Story

Toddlers have a knack for getting sick. But by the time Eliana was 2 years old, her record was alarming. She was almost always coughing or congested, and every cold hit her hard. She’d already been hospitalized several times.

Parents Esther and Tyler shared all this with Eliana’s pediatric cardiologist, who she’d seen since birth for a heart condition. He brought in Connecticut Children’s pulmonary medicine experts, who found the reason: a rare disease called primary ciliary dyskinesia (PCD).

Esther remembers feeling a kind of stunned panic. What was PCD? Would their daughter ever feel better? Was there anything they could do?

Then they met Melanie Collins, MD, who leads Connecticut Children’s PCD Center.

“Dr. Collins was a godsend,” says Esther. “We were so worried. We had so many questions. But even meeting Dr. Collins for the first time, I felt like everything was going to be OK. She had a whole treatment plan. Her attitude was: ‘What you’re going through, it matters. We’re going to figure this out.’”
 

PCD is caused by something most of us never think about: microscopic “hairs” called cilia that line cells throughout our body, including our airways. Normally, they work together to move fluids around — including, crucially, scrubbing mucus from our lungs. In PCD, this system breaks down. Mucus builds up, blocks the breathing tubes and becomes a perfect environment for recurrent infections. Unchecked, this cycle can permanently damage the breathing tubes.

The trick, then, is to catch PCD early. While there’s no cure, kids can thrive with the right care plan — usually including airway clearance therapy, anti-inflammatory medications, and sometimes surgery such as ear tubes or adenoid removal.

Connecticut Children’s PCD Center takes this further.
 

Introducing Connecticut Children’s PCD Center

“When a child has PCD, families need more than doctor’s visits. They need a road map for what to do at home,” says Dr. Collins. “They need relationships with research institutes, so they have access to new treatments. They need education.”

Connecticut Children’s PCD Center is known for all of this, and not just in the Northeast. Every month, Dr. Collins meets with colleagues across the U.S. and Canada who are Clinical Research and Network Center directors like herself. She and the team help lead a national education committee. They offer educational visits to any family facing a pediatric PCD diagnosis — often partnering with their regular pulmonologist, if they already have one — to offer an extra layer of support.

And for parents like Esther and Tyler?

“We literally give families a binder,” says Dr. Collins. “We go through it with them together.”

Inside are step-by-step instructions for treatments, school nurse talking points, and tips for recognizing flare-ups. Families learn how to take lung cultures at home for Video Visits, and how to contact the team anytime they have questions.

For Esther and Tyler, that level of guidance was a game-changer.

Soon, Eliana started at-home mask therapies and anti-inflammatory medication. She had surgery to place ear tubes and remove her adenoids. The change was stunning.

“Her speech took off,” says Esther. “She started talking so much more and singing.”

Before connecting with the PCD Center, Esther had worried constantly about Eliana getting sick. She weighed every grocery trip and play date as a risk. But now, Eliana’s care team was just a call or MyChart message away.

“Dr. Collins told me, ‘Don’t be scared — treat her like any other kid.’ It changed how we parented,” says Esther.
 

When Eliana was 3 years old, the family celebrated happy news: another baby on the way. Then, they learned the baby had PCD too. When a very pregnant Esther told Dr. Collins, she didn’t hesitate.

“Dr. Collins hugged me and said, ‘We’ve got this. Everything is going to be OK,’” Esther recalls.

Owen was born at Hartford Hospital, next door to Connecticut Children’s Level 4 neonatal intensive care unit (NICU). That level of neonatal care was crucial: Like many newborns with PCD, he soon struggled with lung collapse. Instead of anesthesia and surgery, Dr. Collins suggested a different approach: a noninvasive therapy called IPV (intrapulmonary percussive ventilation) to re-expand his lung. It had rarely been tried in a newborn, but she thought it was a safer choice for Owen. Esther and Tyler agreed. It worked.

Later, Esther asked about starting Owen on a medication that had helped for Eliana. Again, it was an unconventional idea for an infant. Still, Dr. Collins could see the value in considering it. After consulting peers in the national PCD community, she told Esther yes. Owen is thriving.
 

These days, Eliana and Owen’s daily PCD treatments are just another part of normal life. Each day, they don special masks for air-clearing therapy, followed by physical therapy exercises. Eliana’s mask looks like a dinosaur; at age 4, she proudly handles her own routine. Owen, at 8 months, requires supervision, so big brother Gabriel often looks on. It’s a family affair.

Many years from now, when they age out of pediatric care, Eliana and Owen will seamlessly transition to UConn Health’s adult PCD Center, thanks to a partnership Dr. Collins helped establish with renowned pulmonologist Mark Metersky, MD. It’s another aspect that sets Connecticut Children’s PCD Center apart.

For now, Eliana and Owen simply know that Connecticut Children’s is a happy place. When they visit, Eliana climbs right into Dr. Collins’ lap. While the adults catch up, and Owen naps on his mom’s shoulder, Eliana amuses herself by playing with Dr. Collins’ hair.

To Dr. Collins, this is a sign she’s doing something right. She wants nothing more than to be a safe space and a resource for kids and families living with PCD.

“When I was in medical school, I wrote this paper about how I wanted to be more than a doctor to my patients,” Dr. Collins says. “I want to be like the aunt you trust to give you the right advice, the one you’re always relieved to see.”

For this family, and so many others, that’s exactly who she is.