Inspired by her daughter, one mom helps families navigate complex epilepsy

Colleen Gagnon felt something wasn’t right soon after her daughter Niamh was born but tried to convince herself she was just overthinking. Fighting her instincts as a nurse and second-time mom, Colleen tried to link the dimple in Niamh’s forehead and darting eye movements to her being born six weeks early. But an eye doctor’s appointment when Niamh was 8 months old proved Colleen’s instincts were right. That appointment set in motion a diagnosis of subcortical band heterotopia (a rare brain malformation) and later Lennox-Gastaut syndrome (LGS), a severe epilepsy syndrome that develops in early childhood and is associated with frequent seizures. LGS can also include autism and other cognitive and behavioral challenges.

Niamh’s diagnosis also set in motion a cross-country move and reintroduction of sorts to Boston Children’s Hospital.

Learning her instinct was right

“We went to the ophthalmologist when Niamh was about 8 months old as standard care to ensure she was growing appropriately because she was born early,” Colleen says. “But the doctor took one look at Niamh and asked who followed her for her microcephaly. That’s when I knew something really was wrong.” Microcephaly is a condition in which a baby’s head is significantly smaller than average, often because of abnormal brain development.

Colleen left the appointment in tears and called her husband, Ryan. Then she called Niamh’s pediatrician, who ordered an MRI of Niamh’s brain. That weekend, while they waited for the MRI results, Niamh experienced her first seizure.

“I swear, I thought she died in my arms,” Colleen says of Niamh’s first atonic seizure. Atonic seizures cause parts of the body to go limp.

At their local hospital, doctors reviewed Niamh’s MRI. The images showed that the outer layers of neurons of her brain — which are responsible for thinking, feeling, and moving — didn’t form correctly, leading to an extra layer of neurons under the usual outside folds of the brain.

“The doctors said, ‘She’ll always have seizures and she’ll always be delayed. We don’t know if she’ll walk or talk,’” Colleen remembers. “For somebody to say, ‘we don’t know’ is the hardest thing for a parent to hear,” Colleen adds. “That’s when you start your search for answers; you want to get as much information as possible.”

Finding new hope and new purpose in an old home

Colleen’s search led her to Boston Children’s. Or back to Boston Children’s as life would have it; Colleen had been assigned there as traveling nurse years earlier before moving to the Chicago area.

Initially, returning to Boston was just a trip to the Epilepsy Center for a second opinion. But after meeting with the team and discussing a path forward for Niamh, Colleen and Ryan made the move permanent so that Niamh could receive the comprehensive treatment the team had recommended.

Under the care of Dr. Ann Bergin and Dr. Heather Olson in the Epilepsy Center and other specialists at Boston Children’s, Niamh’s treatment has included vagus nerve stimulation (VNS) and medication to address her seizures, as well as physical, occupational, and speech therapy, developmental medicine, psychiatry, and other areas of extensive care. These services have helped Niamh not only defy the prediction that she may never walk or talk, but have helped her develop a love of dance, cheering, and other hobbies. Today, she attends a residential school five days a week to help her gain as much independence as possible, which includes working in the school’s café.

Coincidentally, after settling in their new home, Colleen learned of a job opportunity in the Epilepsy Center.

“At first, I thought, ‘Wouldn’t it be kinda odd to work in the department where my child receives care?’” Collen remembers. But she decided to go for it, interviewed, and got the job.

Being an advocate

Today, Colleen sees her job as nurse clinical coordinator for outpatient neurology and epilepsy in the Epilepsy Center as an extra component to her and her family’s commitment to helping Niamh and other children with epilepsy and other complex neurological conditions get the care and support they need.

Colleen says navigating Niamh’s care has been the most humbling and challenging experience of her life, so she can relate to families on a personal level.

“When you have a child with a rare disease or a significant medical concern, it can be hard to advocate and use it positively instead of letting it overpower you. We don’t let Niamh’s condition define her or our family, and I want others to know they don’t have to, either. I want people to see that things can still be really good. It may not be what you expect, but it can still be really good.”

Learn more about how the Epilepsy Center at Boston Children’s helps evaluate, treat, and counsel children with epilepsy and seizures.