Archive for epilepsy
Exploring brain operations: Making decisions, snapping to attention, and forming memories
How do our brains snap to attention and orient us to the outside world — like when we’re sound asleep and the smoke alarm goes off? And when different choices confront us, how does our brain make decisions? Two groups of researchers at Boston Children’s explored these all-important brain operations. The first study, published February ... Read More about Exploring brain operations: Making decisions, snapping to attention, and forming memories
Infantile spasms: Speeding referrals for all infants
Infantile epileptic spasms syndrome (IESS), often called infantile spasms, is the most common form of epilepsy seen during infancy. Prompt diagnosis and referral to a neurologist are essential. Infantile spasms can present subtly, and research indicates that diagnosis is often delayed. Additionally, infants are especially likely to experience delays in referral to a neurologist if ... Read More about Infantile spasms: Speeding referrals for all infants
Writing the book on infantile spasms: Charlotte’s story
When Charlotte, 3, developed infantile spasms last year, her parents, Kate and Brett, entered a world they didn’t know how to navigate. Inspired by their daughter and the care she received at the Epilepsy Center at Boston Children’s Hospital, they set out to help other families facing similar experiences. Nervous parent instincts prove right “I ... Read More about Writing the book on infantile spasms: Charlotte’s story
All in the family: One family’s shared link to epilepsy and fight for answers
One of the wonders of parenthood is seeing the traits you pass along to your kids, like your eyes or your laugh. For the Anderson family, however, one shared trait is more complex: a mutation in the NPRL3 gene that leads to epilepsy. It took four generations to uncover the family’s genetic link to the ... Read More about All in the family: One family’s shared link to epilepsy and fight for answers
Lessons from Emma: Mom shares how RNS has changed their lives
Emma’s journey with the Epilepsy Center at Boston Children’s Hospital began three years ago when she came to Boston Children’s with her parents for help managing her seizures. In Boston, Emma, Lynda, and Danny found answers to their questions, a (temporary) new home, and hope for Emma’s future as she embarked on responsive neurostimulation (RNS) ... Read More about Lessons from Emma: Mom shares how RNS has changed their lives
How genetic testing helped Wilson help other infants with epilepsy
In August 2021, after months of anticipating their son’s arrival, Emily and Nick felt as ready as they’d ever be to become parents. Happy and excited to finally have Wilson in their arms, they brought him home a few days after delivery. Just over 24 hours later, though, they found themselves back in a hospital ... Read More about How genetic testing helped Wilson help other infants with epilepsy
Homecoming: Jack’s complex care brings a family back to Massachusetts
Georgia and her husband, Keith, moved to North Carolina from Massachusetts in 2015 with a dream of building a house and starting a family. Their plans changed, however, when their son Jack was born in 2017 with severe health complications, including a rare and severe form of childhood epilepsy called Lennox-Gastaut syndrome and a rare ... Read More about Homecoming: Jack’s complex care brings a family back to Massachusetts
Keeping pace: ‘Superhero’ Zachary hasn’t let a brain tumor break his stride
Zachary Sonnek, 11, loves being active, whether that means running or playing baseball, golf, or hockey. “He’s always been ‘go, go, go,’” says his mother, Nicole. So two years ago, when he told his parents he occasionally had trouble breathing, they initially thought he just needed to pace himself. Although he had a clean bill ... Read More about Keeping pace: ‘Superhero’ Zachary hasn’t let a brain tumor break his stride
Unraveling the secret to attention, one brain cell at a time: Brielle Ferguson, PhD
In college, Dr. Brielle Ferguson was initially drawn to psychology. Witnessing the impact of schizophrenia on a family member, she was surprised how little was known about the condition. She majored in cognitive science, but she wanted to go deeper and understand what happens in the brain. Taking a required course in neuroscience, she thought, ... Read More about Unraveling the secret to attention, one brain cell at a time: Brielle Ferguson, PhD
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 about Rapid DNA sequencing yields timely answers for infant epilepsy