Archive for epilepsy
Rapid DNA sequencing yields timely answers for infant epilepsy
Treating children with epilepsy has traditionally been a matter of trial and error, trying different drugs one after the other. In the one-third of patients for whom the drugs do not work and seizures continue, doctors consider brain surgery — if it can be done safely. Early in her career, Ann Poduri, MD, MPH, who ... Read More
Which children in status epilepticus are most at risk?
Status epilepticus, a prolonged, potentially life-threatening seizure, is epilepsy’s most severe manifestation. Patients known to have refractory status epilepticus are more likely to need ICU care if initial treatment is delayed. But what about the broader population of children who come to the emergency room in status epilepticus? Are there any early indicators to predict ... Read More
Virtual visits give Weston time to grow and thrive
For many kids and parents, staying home during the COVID-19 pandemic was a challenge. But for Weston Mahady and his family, social distancing was just what the doctor ordered. The slowed-down pace, time spent together — and access to virtual appointments with Boston Children’s specialists — allowed Weston to make developmental strides that once hadn’t ... Read More
A family’s search for answers and hope for PACS1 syndrome
Alya, 9, was about three weeks old when her mother, Taruna, noticed movements and behaviors she was concerned might be seizures. What followed were multiple hospitals, multiple tests, and eventually a diagnosis of PACS1 syndrome. This rare genetic neurodevelopmental disorder can lead to intellectual disabilities and delays and currently has no cure. “We were told to ... Read More
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 ... Read More
Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
As a newborn, Sam Hoffman never cried or made a sound. His mother, Carolyn, often had to wake him up to feed him. He missed many of his infant milestones. At one visit, his pediatrician tapped his leg and couldn’t get a reflex. A urine test found extremely high levels of 4-hydrobutyric acid or GHB ... Read More
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More
‘Mom, my brain feels better.’ One mother’s story of her daughter’s fight with epilepsy
Liliane has a lot to be grateful for this holiday season. Until just this year, her 16-year-old daughter Emily, who has epilepsy, suffered relentless seizures that left her temporarily unable to speak or stand. The seizures began when Emily was 4, and living her life around them was all she knew. But today, Emily is ... Read More
After retinoblastoma, Finn ‘keeps on showing us what he can do’
Six-year-old Finn Carlson “isn’t afraid of anything,” says his mother, Shannon. Whether he’s playing with firetrucks, chasing after his twin, Mack, or riding the tractor on his grandparents’ dairy farm, he’s always up for an adventure. His fearless, free-spirited attitude is even more impressive considering the challenges he’s faced. Born at just 24 weeks, Finn ... Read More
New insight into dietary approaches for epilepsy
Fasting has been believed since ancient times to curb seizures in epilepsy, and small patient studies in the early 1900s have revived the idea. But the reasons have remained mysterious. New research from Boston Children’s helps explain how fasting affects the brain at the molecular level. The findings could lead the way to new approaches ... Read More