6-Year-Old Girl Cured of Deadly Brain Malformation

April 3, 2013— -- The operating team gathered behind Dr. Alejandro Berenstein as 6-year-old Haylie Howe lay unconscious on a table, where seconds before, a special dye had been injected into a catheter to highlight the blood vessels in her brain.

Berenstein, director of the Center for Endovascular Surgery at St. Luke's-Roosevelt Hospital in New York, watched as the negative X-ray image of Haylie's skull transformed to show only her blood vessels.

"We do like that," the Mexico City native said, crossing his fingers in the air and encouraging his colleagues to do the same. "Hopefully, it's all gone."

He paused, searching the screen for a problem.

"Cured," he said, before performing a few more double-checks and giving a few high fives. "Let's get mama here."

Lisa Hribal walked into the room as doctors lowered the blinds on the glass window to the operating room. Still, she had to put on a blue clean room suit, complete with fabric booties and a hair net. She looked around tentatively and took a few steps toward Berenstein.

"Hi," he said. "It's all gone."

Her hands flew to her face as she gasped. She thanked him and hugged him before backing up to tearfully listen to Berenstein use phrases like "normal life" as she clasped her hands and shook her head in shock.

Haylie was born with vein of Galen malformation, a rare brain condition in which the brain is missing the blood vessels -- capillaries -- that would normally slow blood flow from high-pressure arteries to low-pressure veins. Without capillaries, blood rushes to those veins, causing them to expand and allowing blood to pool where it's not needed.

But while some areas of Haylie's brain drowned in blood, other areas weren't getting the blood they needed, and her heart was forced to work overtime to keep up with the high pressure.

"It's basically a big channel full of blood," said radiologist Dr. Daniel Lefton, pointing to Haylie's old MRI scan, which showed a long, thick tube with a bubble at the end in the center of her brain. "With something like this, this kid never would have survived."

He explained that most babies with vein of Galen malformation die of heart failure because the heart is pumping blood with almost no resistance, causing it to pump too hard.

Haylie Howe, 6, was born with a deadly brain malformation. Thursday, doctors declared her cured. (Credit: Lisa Hribal)

"It's literally always fatal in 98 percent of them," Berenstein said, adding that patients with the untreated malformation often die in the first year of life of heart failure with seemingly no explanation. Those with a mild enough malformation to survive the first months of life suffer other complications and still die young without (and sometimes with) treatment.

Haylie wasn't diagnosed when she was born in a suburb of Chicago in 2006. Her mother noticed Haylie wasn't meeting certain milestones and had prominent blue veins on her face, but doctors always told her that Haylie would catch up. They pointed out that Haylie's skin was pale, so she was more likely to have visible veins anyway.

When Haylie still wasn't able to sit up on her own by the time she was a year old, Hribal grew anxious."Something is wrong," Hribal recalled saying. "I can't keep hearing she's going to catch up."

At the next pediatrician appointment, a doctor noticed that Haylie's head was measuring large and suggested hydrocephalus, which is an abnormal accumulation of cerebrospinal fluid. A specialist touched Haylie's head and told Hribal that her baby's skull was actually starting to corrode. Several tests later, doctors reached a diagnosis: vein of Galen malformation.

Berenstein had begun working on a cure in the 1970s. In a procedure called embolization, he closed the malformations using glue, causing the enlarged veins to eventually disappear and allowing blood to flow to the normal vessels at normal pressure.

"We started working with Krazy Glue – literally Krazy Glue we took from the hardware store," he said, adding that technology had since advanced to a medical grade version of the super glue.

The glue goes into the bad veins through a catheter, which is a microscopic tube that enters through the femoral artery in the thigh and snakes its way to the brain. The goal is to get the catheter to reach as close to the problem area as possible before injecting the glue – a delicate process that Berenstein prefers to undertake with a little music in the background.

But Berenstein wasn't Haylie's doctor back when she was a baby. She underwent several embolizations in Chicago, but a complication during one of them caused then-2-year-old Haylie to have a stroke. Hribal said she noticed the doctor giving Haylie extra high fives with both hands to test her after a procedure, but she didn't think anything of it.

"The next morning she was eating breakfast and her face just started drooping," Hribal said.

She called for help, and the doctor confirmed it was a stroke. He then told her that Haylie's case was over his head, and he didn't have a referral.

After frantic Internet searching, Hribal found Berenstein, or "Dr. B," as she and the rest of the vein of Galen malformation parents call him. They've since formed several Facebook groups to offer support and guidance to one another for a disease that was nearly always fatal just a few decades ago. Now, Berenstein says he can save 80 percent of people who have it, but the road to recovery is long and hard for the children and their parents.

For instance, Hribal remembers bringing tiny Haylie to her big sister's elementary school, prompting the older kids to tease Haylie for the blue veins on her face. Haylie's sister, Jocelyn, came to the rescue.

"'They're just beauty veins! They're beauty veins! Leave her alone,'" Hribal remembers Jocelyn shouting at her classmates.

After nine procedures in Chicago and another eight in New York, the veins on Haylie's face are nearly invisible. Her MRI, which she wasn't nervous about until the last second, looks just about normal. A year and a half ago, she had her final embolization, and last Thursday, Berenstein gave her the all clear.

"I feel like she's an old soul," Hribal said. "She knows how lucky she is, but she doesn't know why. At the grocery store, she will say, 'This is the best day of my life.'"