Much has been learned about hyperinsulinism/hyperammonemia since Daniel first had severe low blood sugar as a baby. A new clinic as CHOP can help improve symptoms.

Genetic testing determined that Lexi had a very rare genetic disorder known as beta-propeller protein-associated neurodegeneration (BPAN).

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.

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.

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.

Lauren, who was named Miss Wheelchair New York 2020, is participating in research at CHOP for a rare form of epilepsy

After years of uncertainty, genetic testing for epilepsy helped identify the cause of Ryan’s seizures. With this breakthrough, he’s now nearly seizure free.