Archive for neurology
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
Looking toward the future in epilepsy care and treatment
“There’s a revolution happening in epilepsy treatment,” says Dr. Philip Pearl, director of Boston Children’s Hospital Epilepsy Center. Dr. Pearl and other members of the center celebrate Epilepsy Awareness Month by sharing what excites them about the future of epilepsy treatment, from targeted therapies to minimally invasive surgeries, and their continued hope for our patients ... Read More about Looking toward the future in epilepsy care and treatment
Tagged: epilepsy, neurology, neurosurgery
‘Face blindness’ may represent a failed brain network — and could shed light on autism
People with prosopagnosia, or “face blindness,” have trouble recognizing faces — even those of close friends and family members. While some people can compensate by using clothing and other cues, face blindness often creates serious social problems. It often becomes apparent in early childhood, but, rarely, people can acquire face blindness later in life after ... Read More about ‘Face blindness’ may represent a failed brain network — and could shed light on autism
Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
In honor of Genetic Counselor Awareness Day, we sat down with Beth Rosen Sheidley, MS, CGC, co-director of the Epilepsy Genetics Program at Boston Children’s Hospital, to learn about the field and practice of genetic counseling. What is the role of a genetic counselor? There are about 30 genetic counselors at Boston Children’s across many different departments and ... Read More about Staff spotlight: Meet genetic counselor Beth Rosen Sheidley
Libby’s story: Finding a surgical path to seizure control
Seven years ago, while my husband was visiting his parents in Washington, D.C., I traveled with our 3-year-old daughter, Libby, to Boston Children’s Hospital via ambulance from New Hampshire. Libby had been sick with a bad cold and had been acting unusually, with short episodes of rapid eye movement and stuttered speech. An epilepsy diagnosis ... Read More about Libby’s story: Finding a surgical path to seizure control
Tagged: epilepsy, neurology, neurosurgery
Amelia makes a special connection with her EEG tech
Amelia arrived at Boston Children’s Hospital in August with a present in her small hands. The gift was for one of Amelia’s favorite people at the hospital, electroencephalographic (EEG) technician Katie Tucker. Tucker has been Amelia’s primary EEG tech since she was just 7 months old. “We first traveled up to Boston Children’s from New ... Read More about Amelia makes a special connection with her EEG tech
Tagged: epilepsy, neurology, neurosurgery
Finding the best care for Zeeva
When our 8-year-old daughter, Zeeva, giggles and runs in her walker to the swing set, it’s like watching pure childhood joy. Understanding what it has taken to get her to this point, though, is close to unimaginable. Zeeva is one of fewer than 150 people in the world with a rare disease called Gould Syndrome ... Read More about Finding the best care for Zeeva
Tagged: epilepsy, neurology, neurosurgery
Two neuroscience rock stars elected to the National Academy of Medicine
Beth Stevens, PhD, and Elizabeth Engle, MD, are the latest Boston Children’s Hospital researchers to be elected to the prestigious National Academy of Medicine. Their election, together with Daphne Haas-Kogan, MD, brings Boston Children’s total number of current NAM members to 22. Both scientists hail from the F.M. Kirby Neurobiology Center at Boston Children’s and are ... Read More about Two neuroscience rock stars elected to the National Academy of Medicine
Tagged: neurology, neuroscience, ophthalmology
Sofie’s story: A new gene therapy treatment for SMA
Sofie Petrovická sits up in the exam room, smiling and laughing with her physical therapist, Elizabeth Maczek. Though she’s just over a year old, sitting on her own is no minor feat for Sofie — in fact, it’s nothing short of a miracle. Sofie was just 3 months old when she was diagnosed with spinal ... Read More about Sofie’s story: A new gene therapy treatment for SMA
Tagged: gene therapy, neurology, rare disease, spinal muscular atrophy
Ellery’s story: The mystery of opsoclonus myoclonus syndrome
Ellery was a normally developing 2-year-old when her skills took a dramatic shift backwards last winter. “She started wobbling when she walked, like someone who had had a few beers,” says her mom, Maura. “Then she developed tremors in her hands, couldn’t put a spoon to her mouth and she stopped playing with any of ... Read More about Ellery’s story: The mystery of opsoclonus myoclonus syndrome