Neuroscience Center Patient Stories
1 - 10 of 53
Weston’s Story: Management of 4H Leukodystrophy
Leukodystrophies are a group of conditions that affect the white matter of the brain, or the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and assists with transmission of messages between cells.
Khymir’s Story: Gene Therapy to Treat Cerebral Adrenoleukodystrophy
Khymir is a 4-year-old boy who was found to have adrenoleukodystrophy (ALD) through Pennsylvania’s newborn screening.
Gene Therapy for Duchenne Muscular Dystrophy: Cash’s Story
Children’s Hospital of Philadelphia now offers the first-ever gene therapy treatment for Duchenne Muscular Dystrophy (DMD) to patients like 6-year-old Cash. This breakthrough treatment slows the progression of symptoms and can improve strength and endurance for patients with DMD.
Broc’s Story: High-intensity Focused Ultrasound to Treat Seizures
Broc was 7 years old when he had his first tonic-clonic seizure (also known as a grand mal). He lost consciousness and had violent muscle contractions. It was extremely frightening for his parents, Heather and Dave, to see.
Saethre-Chotzen Syndrome and Encephalocele: Elana’s Story
Elana was born with abnormalities of her skull requiring surgery. When her parents came to CHOP, ‘We knew it was going to be OK.’
Logan's Journey with Rare Syndromes and Speech Development at CHOP
Logan battled Sturge-Weber and Klippel-Trenaunay syndromes, and has triumphed over speech difficulties with the support of CHOP specialists.
Elke’s Story: Myelin Oligodendrocyte Glycoprotein Antibody Disease
At age 10, Elke was afflicted by MOGAD, a serious illness that started with acute and severe paralysis and an inability to speak.
Alexandria’s Story: Burr Hole Hemispherotomy for Seizures Caused By Perinatal Stroke
Alexandria was born at Pennsylvania Hospital, the nation’s first hospital, located in downtown Philadelphia. Everything seemed fine just after her C-section delivery, but within 24 hours of her birth, her mother, Kacy, noticed Alexandria’s eye twitching. She pointed it out to a nurse who brought in a neonatologist to evaluate the newborn. The neonatologist said the twitch was, in fact, a seizure.
Anna’s Story: Playing a Role in Research Advances for Friedreich’s Ataxia
Since their first experience at CHOP in 2015, Anna’s parents have felt welcomed and supported by the team in CHOP’s Friedreich’s Ataxia Program. Team members go out of their way to make their daughter feel comfortable and cared for, and they have a sincere commitment to providing care that takes the whole child into account.
Aaron’s Story: Surgery, Chemotherapy and Stem Cell Transplant for Medulloblastoma
When Aaron was 4, he was suddenly diagnosed with a brain tumor and had to undergo seven months of arduous treatment. His family will never forget the teams in neurosurgery, oncology, nursing and child life — and the Phillies and their South Jersey community — all of whom lifted Aaron up throughout his journey at CHOP.