Monday, December 4, 2023

Controlled strokes to treat hemimegalencephaly

When Bella Hauschildt was born in August 2018, she looked like the average, healthy baby girl. But one day later, twitching in her eyes led to the discovery that the left side of her brain hid severe complications.

Bella had hemimegalencephaly, or HME, a rare disorder that causes half of the brain to grow overly large and abnormal, causing constant seizures.

“Bella was only a couple of days old. It was devastating news,” her grandmother, Ann Getting, said in a story with Children’s National Hospital in Washington, D.C., where Bella eventually went for treatment. “They told us about all kinds of potential disabilities. They also said it would be extremely difficult to control her seizures with medications.”

Because HME is so rare, there are few treatment methods. The typical approach is to open up the skull and remove half of the brain — the left side is not necessary to function normally — to eliminate the tissue that is causing the seizures. But they would have to wait until Bella was 3 months old to safely operate.

At that point, though, waiting was also too risky. Bella was already having 20 to 40 nonstop seizures each hour, even with seizure medication, and if they waited, her IQ would go down 10 to 20 points a month.

“Her seizures were so bad, her quality of life would have been negatively impacted if we waited,” her grandfather, David Getting, said.

The Gettings contacted a good friend, pediatrician Dr. Amy Mashburn, who got to work researching alternative treatments. That led her to Children’s National, where Dr. Taeun Chang, director of the Neonatal Neurology and Neonatal Neurocritical Care Program, had successfully treated a baby girl with the same disorder.

Instead of cutting into the baby’s brain, Chang and her fellow doctors instead purposefully induced repeated strokes to kill off the bad tissue that was causing seizures. Using a micro-catheter, Dr. Monica Pearl and her team go through the femoral artery in the thigh up to the blood vessels in the brain, and carefully put liquid embolic agents, a type of surgical glue, to block blood flow and force the tissue to die.

The procedure, being very new, also held risks, but the Gettings said it “didn’t take long” to decide on that option.

“You proceed with a treatment that offers more hope. You grab hope with both hands. You have the courage to try something that could have a much better outcome,” Ann said.

Before Bella turned 1 month old, the Children’s National team started inducing “controlled” strokes in her brain in three procedures spread out over several weeks. That successfully stopped 98 percent of the problems in her left brain.

Bella was adopted in October while she was still recovering at Children’s National and reliant on multiple seizure medications that made her lethargic.

“She was very sedated as her brain healed from the procedures,” Ambre Hauschildt, her adoptive mom, said. “She didn’t cry. She didn’t have any emotion and, because of the early brain damage, it wasn’t clear if she would ever show emotion. She was just a very quiet, very sleepy, very frail baby with a big question mark over her future.”

But Bella slowly improved, and doctors began to take down her medications, which snapped her out of the fog.

“She was smiling. She was crying. She was learning to suck her thumb. She was looking at us; her eyes would follow us,” Ambre said. “She was very much doing normal baby things: being fussy, wanting to be held — when she didn’t care before.”

Now 14 months old and at home in Iowa with Ambre and her adoptive father, Mark, Bella is down to three seizure medications and doing extremely well.

“She has not had a seizure since Dr. Chang did the procedures. No seizures. No side effects. You would never know she has epilepsy,” Ambre said. “It’s pretty amazing. We’re beyond proud of her. We celebrate all the little things: just seeing her hold her head up, learning to reach for things, and, of course, now she’s talking. She’s done all these things we didn’t know when or if she’d be able to do.”

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