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Twenty-one-year-old Amanda Gennaro began experiencing gelastic seizures when she was a toddler. Unlike grand mal seizures characterized by intense muscle convulsions and loss of consciousness, gelastic seizures are characterized by bouts of unprovoked rage or laughter, and they affected the way Amanda interacted with other children. Unsure of the cause, Amanda's parents took her to UPMC Children's Hospital of Pittsburgh, where Amanda was diagnosed with benign childhood epilepsy. Her parents were told she would likely grow out of it.
But as she got older, the seizures continued. Amanda experienced vision changes, body tremors, and random bouts of laughter, which made her self-conscious. She learned to hold her body still so the shaking was less noticeable, but it was difficult to explain to others why she was laughing at serious or inopportune times. She was prescribed anti-seizure medication, but it did little to help.
Despite the serious cognitive deficits often associated with seizure conditions, Amanda's hard work and determination allowed her to be successful in school and to excel in sports. She entered Robert Morris University (RMU) in 2014 to play Division I lacrosse. That fall, with both academic and sports pressure, Amanda's seizures worsened. They severely inhibited her life, and she was forced to leave RMU for a community college. The seizures calmed down until she began attending nursing school, where they flared up again.
Amanda's father, Rodger, was determined to find the root cause. As a paramedic, he is familiar with the medical community, and was referred by a colleague to a UPMC neurologist at the UPMC Comprehensive Epilepsy Center. As part of her state-of-the-art evaluation, Amanda underwent a high-resolution MRI specifically geared toward epilepsy patients. On this brain scan, her physicians discovered a Hypothalamic Hamartoma (HH), a benign tumor on the area of her brain responsible for emotions, hormone balance, and a number of other important bodily processes.
HH is rare; according to HopeforHH.org, an estimated one in 200,000 people experience it, and it is often overlooked. HH often causes seizures and erratic emotional behavior like Amanda experienced, and anti-seizure medications are typically ineffective.
“It was really nice to find the answer after so many years,” Amanda says.
The neurologist referred Amanda to a neurosurgeon in the UPMC Epilepsy and Movement Disorders Program.
On July 1, 2016, Amanda became the first patient in western Pennsylvania to be treated for HH using MRI-guided laser thermal ablation. A recent breakthrough, laser thermal ablation is a minimally invasive procedure that uses a laser fiber and magnetic resonance imaging to precisely target the source of a patient's seizures – in Amanda's case, the tumor on her hypothalamus.
The surgery required only a tiny incision and small opening in Amanda's skull. The surgeon expertly used a laser fiber to heat and destroy the tumor, eliminating the cause of Amanda's symptoms, while leaving surrounding brain tissue intact.
Though the idea of brain surgery was scary for Amanda and her parents, they had no qualms about the brand-new treatment. The UPMC neurosurgeon explained the procedure thoroughly and answered all of their questions, quickly earning their trust.
“I looked at him and said, ‘Are you confident doing this?' He looked right in my eyes and said, ‘Yes, I am,'” Rodger says.
Post-surgery, Amanda was discharged just one day later. After enduring debilitating symptoms and cognitive stress for almost two decades, Amanda is seizure-free. At her one-month follow-up, doctors cleared her for all activities and are confident her seizures won't return.
“I've been feeling great, like I never even had the surgery,” Amanda says. “It's also nice not having the vision change and the laughing.”
Amanda is still actively enrolled in nursing school and works as an Emergency Medical Technician (EMT) for the same ambulance company as her father. She passed her EMT certification the day before her surgery. Amanda eventually wants to become a flight nurse, a goal that is so much more attainable without the effects of HH impeding her. She and her family are so thankful for the work of the UPMC neurosurgery staff, and Amanda fully intends to work for a UPMC facility when she graduates.
After watching Amanda suffer for so much of her life, Rodger hopes parents whose children have similar symptoms will pursue a firm diagnosis. HH is frequently misdiagnosed, and its effects can be devastating. But after the innovative care Amanda received at UPMC, he knows others can overcome it just like she did.
“It's just amazing, what she's accomplished,” Rodger says. “She's an amazing young lady.”
Our patient stories profile a number of patients who have had minimally invasive brain surgery at UPMC. Although everyone's care experience is unique, we hope that sharing these stories will help other prospective patients and their families better understand these procedures and their potential benefits.
Amanda's treatment and results may not be representative of all similar cases.