Division of Neurology Patient Stories

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.

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.

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.

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.

Céline’s symptoms dramatically improved after she received a new gene therapy treatment for Type 1 spinal muscular atrophy (SMA) at CHOP.

After a five-year journey, a new test by the Roberts Individualized Medicine Genetics Center diagnosed Sadie’s rare genetic muscle condition.

Diagnosed with myasthenia gravis, which causes eye drooping and double vision, Michaela is grateful for the team at CHOP for helping her see the world with both eyes wide open.

Bewildering symptoms, both physical and behavioral, brought Kayla to CHOP and led to a diagnosis of autoimmune encephalitis, a rare disease when a person’s immune system attacks their brain.