Helping a child’s brain to heal
A rare genetic disorder left an infant with debilitating seizures and developmental delays. The medicines weren’t working, but the family and their team of doctors at Stanford Children’s Health refused to give up hope.
By WP BrandStudio
Molly was only one month old when the first signs of trouble appeared. Her tiny body shook with sudden spasms, prompting her mother, Bridget Britt, to wonder if she was having a seizure. Deciding she was probably overreacting, Britt chalked it up instead to indigestion or reflux. But a few weeks later Molly’s symptoms worsened: her arms began stiffening outward, frozen in place, and her face would turn beet-red. “In my gut I knew something was wrong,” said Britt, “but I was trying not to be ‘that parent,’ you know? I was a new mom.”
After witnessing her granddaughter’s symptoms firsthand, Britt’s mother advised her to take Molly to the doctor. The pediatrician consulted a neurologist, who ordered an overnight EEG. The scan determined that Molly was indeed suffering from epileptic seizures, so the doctors sent her to Stanford’s Lucile Packard Children’s Hospital for additional EEG testing and an MRI. The resulting diagnosis was grim: Molly’s brain was riddled with small, firm, potato-shaped malformations called “tubers,” which are the hallmark of a genetic disorder known as tuberous sclerosis, or TS.
Molly was three months old at the time, and her uphill battle with TS had just begun. Fortunately, Stanford Children’s is home to one of the world’s leading experts on the disorder, Stanford pediatric neurologist, Brenda Porter, MD, as well as one of the largest and most renowned pediatric epilepsy centers in the nation.
A long and winding road
Tuberous sclerosis, which occurs in approximately one of every 6,000 newborns, is a genetic disease that manifests across a wide spectrum of severity. Defined by the presence of tubers in the brain and benign tumors in other organs of the body, symptoms range from minor developmental delays and skin imperfections to epileptic seizures, severe autism, heart problems and kidney disease. Three out of four cases are believed to be caused by an in-utero mutation. In the remaining 25 percent, the mutation is inherited from one of the parents, who may suffer from a version of TS so mild they don’t realize they have it. In Molly’s case, neither of her parents had the mutation, and her own symptoms fell somewhere in the middle of the TS spectrum, according to Dr. Porter.
To stop Molly’s major seizures—and hopefully also her more persistent infantile spasms—Dr. Porter prescribed an anti-epilepsy medication, which initially didn’t work. “We kept upping the dose, and there was a lot of panic because we were dealing with this sense of urgency,” Britt said. After a period of time, the medication finally brought Molly’s major seizures and infantile spasms to a halt. Molly immediately began smiling and showing a real sense of personality, and within a short time began rolling over and catching up on other motor skills. “The transformation was amazing,” Britt said. “For a few months that summer we started to feel a little sense of normalcy, a little bit of hope.”
It didn’t last long. When Molly was nine months old, the seizures struck back with a vengeance, overriding the medication that had kept them at bay. Soon after, the infantile spasms returned, as well. The team tried various medications, including Prednisone, a type of steroid, and even a specialized high-fat diet. Although Molly’s regular debilitating spasms were eventually brought under control, her periodic seizures continued. Dr. Porter sat down with Molly’s parents to discuss the only treatment option they had left: brain surgery.
Embracing the last resort
“When you’re looking at a cute little baby, it’s really challenging for parents to see the benefit of epilepsy surgery,” said Dr. Porter. “It seems very scary, like ‘You’re going to do what to my child’s brain?’” When it came to having that discussion with Molly’s parents, it was a calm exchange, because they’d been actively engaged through an organization called the TS Alliance with other parents of children suffering from TS. They knew surgery was Molly’s best hope.
After a week of wearing electrodes applied directly to the surface of her brain to determine the precise location of the tuber causing her seizures, which had begun paralyzing the left side of her face and body, Molly’s operation took place shortly before her second birthday. “The doctors told us to be prepared to sacrifice her left side’s ability to function, because somewhere along the way Molly’s brain had rewired itself, and they couldn’t find the left motor control strip,” said Britt. “We said, well, that’s okay if her mind is intact, the seizures are gone and she has a chance for independence.” During the surgery, Stanford’s chief pediatric neurosurgeon, Gerald Grant, MD, and his team removed a golf ball-sized calcified tuber from the right parietal lobe of Molly’s brain. “She woke up from the surgery standing up on both feet, giving me a hug with both arms and was seizure-free for a while, which was huge,” Britt said. “She started walking a month later and started to gain the skills that she had lost along the way.”
That period of seizure-free calm lasted about a year, during which time Molly began developing at a rapid pace and was doing very well. She loved to draw, but in the summer of 2017, when Molly was four years old, her mother noticed she suddenly seemed to lose the ability to draw stick figures. Dr. Porter suggested they run an EEG, which revealed that Molly was experiencing many subclinical seizures arising from the opposite side of her brain. Medication was tried again, but it soon became clear that a second surgery was needed.
As luck would have it, technological innovations had advanced tremendously during the two years between Molly’s surgeries. “We were right at the forefront of an exciting procedure called Stereo EEG,” said Dr. Grant. The less invasive procedure allows doctors to insert tiny electrodes into the brain to generate a 3D computer model and pinpoint even more precisely the cause of seizures. With the model in hand, and the help of an innovative robotic surgical arm called ROSA—which enables faster, safer and minimally invasive neurosurgery—Dr. Grant localized the seizure onset and carefully removed a large tuber from Molly’s temporal lobe. One year later, her seizures haven’t returned.
Molly’s new uninterrupted life
“Not only is Molly seizure-free, but her development has been exciting to follow because her language had been so stalled,” said Dr. Grant. “She really couldn’t develop any sentences. But then she started singing at home, apparently really loudly, and it’s so wonderful to see her in clinic now just talking and expressing herself with language in ways she never used to be able to do.”
Molly’s trajectory is indicative of the progress the medical community is making in tackling the disease. New breakthroughs on the horizon, many pioneered at Stanford Children’s, have the potential to dramatically expedite future TS treatments in children. These include new minimally-invasive laser-based neurosurgery tools, and even experimental noninvasive ultrasound-based technologies that involve zero incisions into the brain, as well as potential cures for the disorder through gene therapy.
For Molly and her family, their care team’s dogged search for treatment options and new innovations has been nothing short of lifechanging. “Molly is doing really well. She loves the monkey bars, riding her bike, art and talking,” Britt said. “We’re still working on skills that she needs to improve on, but she’s a happy little kid and to look at her you wouldn’t know that she had the rocky start that she did. We are so grateful for the amazing epilepsy team at Stanford Children’s.”
Learn more about Stanford Children’s Health Brain & Behavior Center.
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