Toddler with Brain on Fire Disease Thrives with Expert Care
Doctors were stumped to find the cause of Grace’s seizures.
“She was a puzzle,” said Grace’s mother, Erin. “She was a month away from turning three, and out of nowhere, she started having unexplainable seizures.”
As Grace’s seizures escalated in severity, Erin and her husband Larry rushed her to the emergency department at Ann & Robert H. Lurie Children’s Hospital of Chicago. Once admitted, they met with neurologists who ran a series of tests and a spinal tap. Although the cause of the seizures remained unknown, doctors provided an initial diagnosis of a condition that causes involuntary movement of the face, mouth and tongue, known as orofacial dyskinesias.
While hospitalized, Grace continued to drastically regress, to the point that she lost the ability to walk or speak. She was also experiencing worrisome fits around the clock, in which she would claw herself and have hallucinations.
“It was unnerving to see my baby like that,” Erin recalled.
As the days went on, Grace continued to confront a roller coaster of cognitive abilities. Then, just when things were starting to slightly improve, she experienced a series of massive seizures and was placed on a ventilator. Though the experience was traumatic, Erin says she knew her child and her family were “in the right place at the right time.” Grace recovered in the Lefkofsky Family Pediatric Intensive Care Unit (PICU) at Lurie Children’s.
Grace’s escalation of symptoms led doctors to believe she had autoimmune encephalitis, a disease that can cause seizures as well as uncontrollable side effects. This diagnosis was confirmed after an analysis of an autoimmune encephalitis panel from her blood and spinal fluid.
Autoimmune encephalitis is at the forefront of the autobiographical book and movie Brain on Fire, in which a young news reporter is overcome by seizures, delusions and violent outbursts. This condition causes the body to create antibodies directed against the NMDA receptor in the brain, which regulates behavior, speech, memory and movement.
“As a result of this disruption in brain signaling, children present with a combination of neuropsychiatric symptoms,” says Grace’s lead doctor, Dr. Joanna Blackburn, Attending Physician of Neurology at Lurie Children’s and Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. This can include behavior changes, psychosis, memory loss, speech changes, seizures, autonomic dysfunction and movement disorders, which were all symptoms that Grace experienced.
While still a relatively new disease in terms of the research behind it, treatment is available. At Lurie Children’s, neurology and rheumatology worked together to care for Grace. Her care team began an immunosuppressive regime, which involved six months of chemotherapy as well as outpatient rehabilitation, steroids and anti-seizure medications.
Under this treatment plan, Grace quickly began to show major improvements. “She went from not being able to walk, to running and riding her scooter two weeks later,” Erin says. “One of her doctors said she is one of the fastest recovery cases she’s ever seen. If we weren’t at Lurie Children’s, who knows what Grace’s recovery would have looked like.”
Today, Grace has finished chemotherapy and continues to receive an intravenous steroid and intravenous immunoglobin, a blood product to treat antibody deficiencies. Her chance of relapsing huddles around 20 percent, her doctors say, although data varies. She continues to see doctors in the neuroinflammatory clinic at Lurie Children’s.
The treatment Grace has received at Lurie Children’s is restoring her health, quality of life and bubbly personality, Erin says. She has relearned how to walk and talk by attending occupational, physical and speech therapy. Her four-year-old sister and one-year-old brother also aided with her recovery. “Constant playmates who pushed Grace to her limits daily, was the best therapy we could ask for,” says Erin.
Erin and Larry are incredibly grateful for the life-saving treatment and care their daughter received, as well as the all-encompassing support for their family during one of the most difficult periods of their lives. “Lurie Children’s is a simply amazing hospital. There are levels of support that we didn’t know existed. For example, the child life specialists were there to counsel us on how to explain everything to our four-year-old,” Erin says. “That was priceless.”
According to Erin, Grace’s physicians were accommodating and incorporated her parents’ preferences into every care decision, and even provided the emotional support that helped carry the family through it all. “I remember crying to Dr. Klein, saying ‘Grace was supposed to be a flower girl at her aunt’s wedding,’” Erin recalls. “She comforted me by calmly saying that everything would take time, but it was going to be OK.”
This past fall, Grace walked down the aisle as her aunt’s flower girl. “And she’s perfectly fine,” Erin says.