Division of Neurology Patient Stories
21 - 30 of 56
Cate’s Story: Attaining a Genetic Diagnosis With the Help of the Epilepsy Neurogenetics Initiative
Learning a genetic diagnosis has enabled one family to connect and share their own wisdom and experience with families of children with the same diagnosis.
William’s Story: Gene Replacement Therapy for SMA Type 2
Untreated, children with SMA type 2 will never be able to walk. After receiving a one-time dose of gene therapy, William has gained strength and hit milestones his family previously didn't think possible.
Maddie’s Story: Medical Management of Chronic Migraine
The Headache Program team have worked with Maddie to manage her migraine and minimize pain and disruption to her life.
Sophia’s Story: MAGEC Growing Rod Implantation to Treat Neuromuscular Scoliosis
A CHOP occupational therapist's keen observation led to Sophia's neuromuscular scoliosis diagnosis, and supportive treatment to enhance her quality of life.
Jaxson’s Story: Using Telemedicine to Reach Children With Rare Genetic Epilepsies
Telehealth has allowed Jaxson, 3, and his family to stay connected with the Epilepsy Neurogenetics Initiative (ENGIN) from the comfort of their home during the COVID-19 pandemic.
CDKL5 Deficiency Disorder: Avery's Story
Avery, 6, has been treated at Children’s Hospital of Philadelphia (CHOP) for seizures since she was a baby. She is one of the first patients to benefit from CHOP’s new multidisciplinary CDKL5 clinic.
Lucy’s Story: Going All In to Cure a Rare Disease
Genetic testing helped Lucy's family identify a potential treatment for her seizures, which enabled her family and the ENGIN team to tackle her rare disease.
Medical Legal Partnership: Caleb’s Story
Caleb depends on electricity to run his ventilator, suction machine and feeding tube. CHOP’s Medical Legal Partnership helped his family keep the utilities on so now Caleb can focus on other things — like preparing for kindergarten.
Gene Therapy Treatment for Spinal Muscular Atrophy: Céline’s Story
Céline’s symptoms dramatically improved after she received a new gene therapy treatment for Type 1 spinal muscular atrophy (SMA) at CHOP.
Rare Genetic Muscle Condition: Sadie
After a five-year journey, a new test by the Roberts Individualized Medicine Genetics Center diagnosed Sadie’s rare genetic muscle condition.