An unusual route to saving a child’s eye

Poppy Biagini (left) and Liam Klagges (right), each with the white glow of retinoblastoma in one eye. (Courtesy Dana Biagini and Amy Klagges)

All Poppy Biagini’s family knew was that something was off about her right eye. Liam Klagges’ family’s first sign that something was wrong was that his eyes didn’t always track properly, and that his left eyelid hung a little lower than his right.

Both children, it turns out, had a tumor called a retinoblastoma. Usually diagnosed in children younger than 5, it’s rare—only about 300 children in the United States are diagnosed with it every year—but grows rapidly from the back of the eye. For that reason, doctors have to start treating it as soon as it’s diagnosed, lest it fill the eye or start invading surrounding tissues.

There are a few different ways of treating retinoblastoma, such as chemotherapy, radiation or enucleation (surgical removal of the eye). But both Poppy and Liam’s families elected to try something different—a procedure called intra-arterial (IA) chemotherapy that delivers treatment right to the tumor. Today, both children still have both eyes because of it.

Moving quickly

According to Poppy’s father, Dana, they caught her tumor because of a family friend. “Her granddaughter had retinoblastoma, so we were familiar with the signs.” After they noted that something was off, their doctor sent them to an ophthalmologist. He, in turn, immediately picked up the phone and called Boston Children’s, cautioning the family that because it was late in the day on a Friday, they might not hear back from anyone until the following Monday.

Retinoblastoma is rare—only about 300 children in the United States are diagnosed with it every year—but grows rapidly from the back of the eye.

Things started moving more quickly when Boston Children’s ophthalmologist and surgeon Ankoor Shah, MD, PhD, called them at 9:00 p.m. that same night. “He called apologizing for taking so long to call us back,” Dana recalls. “He’d been in surgery all day!”

But the Biaginis, who live south of Boston, were most surprised by what Shah said next: “I know it’s late, but if you can bring her in to Boston right now, I can see her tonight.”

At 10:30 that night, Shah confirmed the 4-month-old’s diagnosis. Within days, the family was talking to oncologists Allison O’Neill, MD, and Jonathan Marron, MD, from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, and neurointerventional radiologist Darren Orbach, MD, PhD, about the pros and cons of IA chemotherapy.

Direct delivery

Poppy (top, with her father Dana) and Liam (bottom) during treatment. (Courtesy Dana Biagini and Amy Klagges)

With traditional chemotherapy, medications are injected into a vein in the arm. Once in the bloodstream, they flow through the whole body, with some treatment reaching the site of the tumor.

IA chemotherapy takes a very different approach. With the child under anesthesia, a specialist like Orbach threads a very thin catheter from an artery in the groin all the way up through the blood vessels into the head, right to the artery at the back of the eye. Once in position, he or she injects chemotherapy directly to the tumor.

“The idea is to deliver a localized dose of chemotherapy that’s significantly higher than what we could deliver intravenously,” says Carlos Rodriguez-Galindo, MD, director of the Solid Tumors Center at Dana-Farber/Boston Children’s. “With it, we increase the chances of salvaging the patient’s eye and also greatly reduce the side effects of chemotherapy.”

“When we heard about it, IA chemotherapy sounded too good to be true,” Dana says. “Poppy had three treatments over four months and never had any side effects.”

Uncertain diagnosis

For the Klaggeses, who hail from southern New Hampshire, the decision about how to approach Liam’s care was more complex. “We mentioned to our pediatrician at his 4-month-old well visit that his eyes weren’t tracking properly,” says his mother Amy. An eye exam revealed a white glow suggesting that something was blocking Liam’s retina; a pediatric ophthalmologist confirmed a few days later that Liam had retinoblastoma.

IA chemotherapy hadn’t been the Klaggeses first choice for Liam’s treatment. “We initially opted to have his eye removed, because we wanted the tumor out,” Amy explains. “But we learned two days before the surgery that there was a 50 percent chance that he had the inherited form of retinoblastoma, which almost guaranteed that the cancer would show up in his other eye.”

Because of the uncertainty, they opted for IA chemotherapy. “We were faced with the difficult decision of choosing IA chemotherapy versus enucleation without the benefit of knowing which form of retinoblastoma Liam had,” Amy says. “The full genetic test results were going to take six to eight weeks, but no one, including us, wanted to wait that long. The decision was as hard on me as learning he had cancer.”

After his first treatment, the genetic results came back: like Poppy’s, Liam’s tumor was sporadic, not inherited. More good news followed: The first round of IA chemotherapy had worked better than expected and had killed his entire tumor. After two more rounds at Orbach’s hands and two laser treatments by Boston Children’s ophthalmologist Deborah VanderVeen, MD, Liam’s treatment was done.

Eyes on the future

Figure 1Poppy (left) and Liam (right) after their treatments were through. (Courtesy Dana Biagini and Amy Klagges)

Both Poppy and Liam are now cancer-free, though the remains of their respective tumors are still there, and both have vision problems.

“Poppy’s lost some of the central vision in her eye, but her peripheral vision is still pretty good,” says Dana. “Her doctors think that as the remnants of the tumor dissolve, she should hopefully gain some of the central vision back.”

The future of Liam’s vision is less certain, though. “His tumor was very large, covering about 85 or 90 percent of his retina, which is why his doctors initially thought he might have inherited retinoblastoma,” Amy explains. “He can see light and dark, but his central vision is completely gone. We hope some will come back at some point.”

Now 13 months old, Poppy wears protective glasses—”which usually don’t stay on for more than a few minutes,” Dana grouses—and is undergoing treatments aimed at strengthening the vision in her right eye.

“She has a slightly lazy eye and has to go in for regular checkups, but otherwise you wouldn’t know anything had been wrong with her,” Dana says.

Amy says similar things about Liam, who is now 17 months old. “We’ve graduated to being seen every three months now,” she says. “Watching him now, you’d never know that he is effectively blind in one eye. He’s a rock star.”

As Amy notes, the checkups are not simple. “They mean spending a half day in the hospital,” she says. “Liam’s given a dilated eye exam under general anesthesia, as well as laser treatments if necessary. He then wakes up in the Post-Anesthesia Care Unit. He’ll have checkups like this until he’s at least 5 years old.”

“I give anyone in the world of pediatric oncology two thumbs up. We’re lucky our story has a happy ending.”

But both parents marvel at their respective families’ experiences through treatment. “Everything’s been above and beyond what I would expect from a hospital,” Dana says. “Everyone seems to be working around the clock. We could email Drs. Shah or Orbach at any time day or night, and they’d get back to us in minutes.”

“I give anyone in the world of pediatric oncology two thumbs up,” Amy says. “We’re lucky our story has a happy ending.”