Archive for epilepsy
Motor neurons made from patients’ cells reveal possible ALS drugs and targets
Amyotrophic lateral sclerosis (ALS) is a severe, fatal neurodegenerative disorder causing loss of motor neurons and voluntary muscle action. While mouse studies have identified potential treatments, these drugs have typically done very poorly in human trials. “One of the most difficult challenges in drug discovery is identifying a target that has a key role in ... Read More about Motor neurons made from patients’ cells reveal possible ALS drugs and targets
Pinpointing Karlijn’s seizures: Neurosurgery helps teen get back to her life
Karlijn Kuiper was visiting her home country of the Netherlands a few years ago when the trouble began. At first, her family noticed she would zone out. “She had these strange spells where she would just stare,” remembers her mother, Marieke. At first, it didn’t occur to Karlijn’s family that they could be seizures. Like ... Read More about Pinpointing Karlijn’s seizures: Neurosurgery helps teen get back to her life
Predicting pediatric seizures with a wristband: Study shows what’s possible
The ability to track seizures has a number of potential benefits: It could allow physicians to better determine optimal dosing and timing of medication, as well as enable timely interventions to help prevent impending seizures. Traditionally, electroencephalography (EEG) and electrocorticography have been used to evaluate and forecast seizures. However, more compact, portable approaches — such ... Read More about Predicting pediatric seizures with a wristband: Study shows what’s possible
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More about Made-to-order therapies get a boost with new FDA guidelines
Fighting for answers: Innovative approach to epilepsy helps Emma thrive
As a nurse, Lynda Coto was used to solving problems — until she was faced with her own daughter’s seemingly inexplicable illness. “I always have answers, and if I don’t, I find them,” she says. “But this time, I just didn’t know.” The questions surrounding Emma’s health began almost as soon as she was born. At ... Read More about Fighting for answers: Innovative approach to epilepsy helps Emma thrive
‘Anything is possible’: The sky’s the limit for teen with cerebral palsy
Jack Goldberg is on a mission. “I want other kids to see that if you work hard and put your mind to something, anything can be possible,” he says. “The sky’s the limit.” He should know. At 13, he competed in the National Finals to become one of Canada’s top-ranked pony jumpers in his division. ... Read More about ‘Anything is possible’: The sky’s the limit for teen with cerebral palsy
Going into science: Women scientists at Boston Children’s offer advice to girls
In honor of the International Day of Women and Girls in Science (February 11), we invited women scientists at all stages of their careers at Boston Children’s Hospital to share their scientific agendas. Here is some of what they had to say. The scientists also offered their advice for girls interested in entering the field. ... Read More about Going into science: Women scientists at Boston Children’s offer advice to girls
My journey from patient to employee
When I was 13 years old, I remember eating my breakfast and next thing I knew, my mom was repeatedly asking me why I wasn’t responding to her. I was having my first seizure. The start of my journey This was the beginning of my journey with epilepsy. For two and a half years, I ... Read More about My journey from patient to employee
Giving back: Cole’s ‘Socks for Smiles’
When Cole was 10, he experienced his first seizure. Two years later, he has multiple seizures a day and is treated at the Boston Children’s Hospital Epilepsy Center. In the spring of 2019, Cole and his family were inpatient at the hospital for an electroencephalogram (EEG) to check on his epilepsy. While he was in ... Read More about Giving back: Cole’s ‘Socks for Smiles’
Mary’s journey with genetic epilepsy
Lots of people don’t like the heat. It makes them feel uncomfortable and sluggish. But for Mary, being outside on a hot day means risking a seizure. So can running in gym class or having a fever. That’s because Mary has genetic epilepsy, a form of Dravet syndrome — a rare epilepsy syndrome caused by ... Read More about Mary’s journey with genetic epilepsy