All in the family: One family’s shared link to epilepsy and fight for answers

One of the wonders of parenthood is seeing the traits you pass along to your kids, like your eyes or your laugh. For the Anderson family, however, one shared trait is more complex: a mutation in the NPRL3 gene that leads to epilepsy. It took four generations to uncover the family’s genetic link to the neurological disorder, but thanks in part to the Epilepsy Center at Boston Children’s, they’ve found a path to living seizure-free.

A full-circle experience

When her son Christopher was born in 2020, Laura was hit immediately with the love and nervousness of new parenthood. She was also hit with a full-circle moment that brought her back to her own childhood when, soon after delivery, Christopher started showing signs of seizures.

“My heart sank,” Laura says. “I had prayed long and hard that [epilepsy] wouldn’t happen to my child because it changes you, it marks you.”

Laura speaks from experience because she lived it herself about 35 years ago.

Finding life-changing care

Laura had her first seizure at five months old. It was 1987 and her parents — Susan and Scott, who were living in Missouri at the time — had little information about childhood epilepsy despite Scott and his mother having a history of seizures.

“At that time, the thought was hereditary epilepsy didn’t show up when you were a baby,” Susan says. “It was believed it didn’t appear until later in childhood.”

Laura’s seizures temporarily subsided with medication but returned when she was 8. By this time the family was living in Connecticut, where her care team tried different medications without success. By sixth grade, she was having multiple seizures a day.

“We were pulling our hair out,” says Susan. “We kept asking, ‘Who else can we see? Who else can we talk to?’”

Determined to find a solution, they found the Epilepsy Center at Boston Children’s, where extensive testing, including MRIs and EEGs, helped the team locate where in Laura’s brain the seizures were coming from and confirmed that surgery was the best treatment option.

In 1999, Laura and her family traveled to Boston for focal resection to remove the affected brain tissue. The surgery significantly reduced Laura’s seizures, and a second surgery in 2000 completely removed the affected area. She has been seizure-free since.

“It changed my quality of life,” Laura says. “It was amazing.”

Continuing the legacy of advocating

As Laura grew into adulthood, she thought epilepsy was behind her. She got married in 2015 — 15 years to the day of her second, life-changing resection surgery — settled in North Carolina with her husband, Mike, and was excited to start a family. Christopher’s seizures right after his birth were a startling jolt back to the world of epilepsy care.

At ten days old, Christopher was transferred from his birth hospital to a larger academic medical center to receive more specialized care, which included medications and genetic testing.

As his seizures persisted, Laura knew — through watching her parents advocate for her, as well as through her own experience and maternal instinct — that he needed answers their current care team couldn’t provide.

“You’re gonna fight for your kid and what you think is best for them,” Laura says.

For Laura, this meant reaching out to the teams that had helped her all those years ago. To stay closer to North Carolina, she and Mike met with physicians at her original care facility in Missouri where they recommended surgery to treat Christopher’s persistent seizures. At five months old, Christopher underwent a partial hemispherectomy to disconnect a portion of the brain, which alleviated his seizures for a few months. When his seizures returned and a second, full hemispherectomy looked imminent, Laura started considering a return to Boston Children’s.

“He’s my baby and I want the very best of the best for him,” Laura says.

Finding the missing link

While Laura and Mike were navigating bringing Christopher to Boston, the results of their genetic testing came back showing that Laura carried a mutation in the NPRL3 gene, which aids the regulation of cell growth and metabolism and plays a role in the development of epilepsy. For Laura, the results brought clarity.

“I remember sitting in the hospital when Christopher was just days old and having a seizure, thinking, ‘Okay, I had something, my dad had something, my grandma had something, and now my son’s got something. It must be related, right?’” says Laura.

The genetic results proved Laura’s instincts were right and solidified a connection among her family’s history of seizures.

Thriving thanks to family-centered care

In September 2021, under the care of Dr. Phillip Pearl and Dr. Scellig Stone, co-directors of the Epilepsy Center, Christopher underwent a second hemispherectomy and has been seizure-free since.

Today, as Laura and her family watch Christopher enjoy life as a happy, rambunctious three-year-old, they remain grateful for the compassionate, cooperative care they’ve received at Boston Children’s.

“When Boston Children’s talks about family-centered care, they mean it,” says Susan. “It is truly a remarkable and wonderful thing that distinguishes them from any other hospital.”

Laura echoes her mother’s sentiment:

“I think more people need to know about what Boston Children’s can do for their kids,” she says. “It’s just a remarkable place to be whether you’re a parent or a patient. I can say that having experienced both.”

Learn more about the Epilepsy Center at Boston Children’s Hospital.