When Andrea, 10, began having vision problems, there's no way her family could have predicted the complex diagnostic journey they were about to embark upon.

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.

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. 

The Headache Program team have worked with Maddie to manage her migraine and minimize pain and disruption to her life.

A CHOP occupational therapist's keen observation led to Sophia's neuromuscular scoliosis diagnosis, and supportive treatment to enhance her quality of life.

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.